LOCUS       NM_028640               4056 bp    mRNA    linear   ROD 07-AUG-2024
DEFINITION  Mus musculus whirlin (Whrn), transcript variant 1, mRNA.
ACCESSION   NM_028640 XM_196324
VERSION     NM_028640.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4056)
  AUTHORS   Aguilar,C., Williams,D., Kurapati,R., Bains,R.S., Mburu,P.,
            Parker,A., Williams,J., Concas,D., Tateossian,H., Haynes,A.R.,
            Banks,G., Vikhe,P., Heise,I., Hutchison,M., Atkins,G., Gillard,S.,
            Starbuck,B., Oliveri,S., Blake,A., Sethi,S., Kumar,S., Bardhan,T.,
            Jeng,J.Y., Johnson,S.L., Corns,L.F., Marcotti,W., Simon,M.,
            Wells,S., Potter,P.K. and Lad,H.V.
  TITLE     Pleiotropic brain function of whirlin identified by a novel
            mutation
  JOURNAL   iScience 27 (7), 110170 (2024)
   PUBMED   38974964
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4056)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 4056)
  AUTHORS   Guan,Y., Du,H.B., Yang,Z., Wang,Y.Z., Ren,R., Liu,W.W., Zhang,C.,
            Zhang,J.H., An,W.T., Li,N.N., Zeng,X.X., Li,J., Sun,Y.X.,
            Wang,Y.F., Yang,F., Yang,J., Xiong,W., Yu,X., Chai,R.J., Tu,X.M.,
            Sun,J.P. and Xu,Z.G.
  TITLE     Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through
            Improper Phosphorylation of WHRN and WDSUB1 Recruitment
  JOURNAL   Adv Sci (Weinh) 10 (16), e2205993 (2023)
   PUBMED   37066759
  REMARK    GeneRIF: Deafness-Associated ADGRV1 Mutation Impairs USH2A
            Stability through Improper Phosphorylation of WHRN and WDSUB1
            Recruitment.
REFERENCE   4  (bases 1 to 4056)
  AUTHORS   Akturk,A., Day,M. and Tarchini,B.
  TITLE     RGS12 polarizes the GPSM2-GNAI complex to organize and elongate
            stereocilia in sensory hair cells
  JOURNAL   Sci Adv 8 (42), eabq2826 (2022)
   PUBMED   36260679
REFERENCE   5  (bases 1 to 4056)
  AUTHORS   Michel,V., Pepermans,E., Boutet de Monvel,J., England,P.,
            Nouaille,S., Aghaie,A., Delhommel,F., Wolff,N., Perfettini,I.,
            Hardelin,J.P., Petit,C. and Bahloul,A.
  TITLE     Interaction of protocadherin-15 with the scaffold protein whirlin
            supports its anchoring of hair-bundle lateral links in cochlear
            hair cells
  JOURNAL   Sci Rep 10 (1), 16430 (2020)
   PUBMED   33009420
  REMARK    GeneRIF: Interaction of protocadherin-15 with the scaffold protein
            whirlin supports its anchoring of hair-bundle lateral links in
            cochlear hair cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4056)
  AUTHORS   Rinchik,E.M.
  TITLE     Molecular genetics of the brown (b)-locus region of mouse
            chromosome 4. II. Complementation analyses of lethal brown
            deletions
  JOURNAL   Genetics 137 (3), 855-865 (1994)
   PUBMED   8088529
REFERENCE   7  (bases 1 to 4056)
  AUTHORS   Rinchik,E.M., Bell,J.A., Hunsicker,P.R., Friedman,J.M.,
            Jackson,I.J. and Russell,L.B.
  TITLE     Molecular genetics of the brown (b)-locus region of mouse
            chromosome 4. I. Origin and molecular mapping of radiation- and
            chemical-induced lethal brown deletions
  JOURNAL   Genetics 137 (3), 845-854 (1994)
   PUBMED   7916309
REFERENCE   8  (bases 1 to 4056)
  AUTHORS   Fleming,J., Rogers,M.J., Brown,S.D. and Steel,K.P.
  TITLE     Linkage analysis of the whirler deafness gene on mouse chromosome 4
  JOURNAL   Genomics 21 (1), 42-48 (1994)
   PUBMED   8088814
REFERENCE   9  (bases 1 to 4056)
  AUTHORS   Weltman,A.S., Sackler,A.M., Lewis,A.S. and Johnson,L.
  TITLE     Metabolism rate, biochemical and endocrine alterations in male
            whirler mice
  JOURNAL   Physiol Behav 5 (1), 17-22 (1970)
   PUBMED   5538400
REFERENCE   10 (bases 1 to 4056)
  AUTHORS   Sackler,A.M. and Weltman,A.S.
  TITLE     Metabolic and endocrine differences between the mutation whirler
            and normal female mice
  JOURNAL   J Exp Zool 164 (2), 133-140 (1967)
   PUBMED   6034501
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK157955.1 and AY739114.1.
            
            On Feb 9, 2013 this sequence version replaced NM_028640.1.
            
            Summary: This gene encodes a protein required for elongation and
            actin polymerization in the hair cell stereocilia. The encoded
            protein is localized to the cytoplasm and co-localizes with the
            growing end of actin filaments. Mutations in this gene have been
            linked to deafness. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (1) lacks an in-frame exon in the
            3' coding region, compared to variant 2. The encoded isoform (1) is
            shorter than isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY739114.1, BC150757.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AK157955.1         2-41
            41-4056             AY739114.1         1-4016
FEATURES             Location/Qualifiers
     source          1..4056
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 33.97 cM"
     gene            1..4056
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /note="whirlin"
                     /db_xref="GeneID:73750"
                     /db_xref="MGI:MGI:2682003"
     exon            1..1379
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1598
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1724
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            1725..1927
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            1928..1964
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            1965..2177
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            2178..2387
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            2388..2459
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            2460..2994
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            2995..3176
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            3177..3299
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            3300..4056
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4038..4043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /note="hexamer: AATAAA"
     polyA_site      4054
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /note="major polyA site"
ORIGIN      
        1 aacagttcgc aaagtccggg ctcccggccg cgtggctccg tgtgcgcccg ggcggcgttg
       61 gggcgcgggg gcccgggctg ctgcatggtg ggcggcccgg gacatgcccc gcaccccccg
      121 ccggacgccc gcgtggctcc tctggctgcg actgctccgg actctgagcc tagattgacc
      181 ggcgccctaa cttctttctg actttggggt cccccagccc tagaggaacg ggcatctcgg
      241 ctgggggagc cccggacatg gtgtgacggg gcgggcggcg tggctgcgcc ccccactgcg
      301 gccacgcacg gtccccgcgc cttccggcat gtagctgctg ttctcgctcc ccccggcctc
      361 cagccgcagt ctccacgacc tccggcctcc aggcgccaac tctttgtccc cccaggatcc
      421 cgccgcggtc ctcaggattg cagccgccgt ctcttcgtcc tccgaattcc agtttcacct
      481 gccttcgcgc ccctgggaca ccagccgctg tccctgccac ctccccagga tccagccagc
      541 gctctagctc acctgcacct ccccaaccca ccctgcagcc gtcgtctccg ctctccgggc
      601 cagtctagac tgcagccggt gactccgcgt ctaccccaaa cccagactcc agccgtgacc
      661 tccgcgcccc ggggaatcca gctgtcgcgc ctctggccgc aggtgcagct gccgccccgc
      721 gccgcgcgcc ccgagtgcgg ccgggcctcg gcggggagat gaacgcacag ctggacggcc
      781 tgtcggtgag ctcgtcctcc accggctcgc tgggctcggc ggcggcggcg gcgggcggcg
      841 gcgggggcgc ggggttgcgg ctgctgtctg ccaacgtgcg ccagctgcac caagcgctca
      901 cggcgctgct gagcgagccc gagcgggagc agttcactca ctgcctcaac gcgtaccacg
      961 cgcgccgcaa cgtcttcgac ctggtgcgca ccctgcgcgt cctgctggac agcccggtca
     1021 agcggcgtct gctgcccatg ctgcgtctgg tcatcccgcg ctccgaccag ctgctcttcg
     1081 accagtacac ggccgagggc ctctacctgc cagccaccac cccctacagg cagcccgcct
     1141 gggccgctcc cgacggcgcg gggcccgggg aggtgcgact cgtgagcctg cggcgcgcca
     1201 aggcccacga gggcttgggc ttcagcatcc gcgggggctc ggaacacggc gtgggcatct
     1261 acgtgtctct agtggagccg ggctccctgg cagagaagga agggttgcgg gtcggggacc
     1321 agattctgcg cgtcaacgat aaatctctag cccgggtgac ccacgcggag gctgtcaagg
     1381 ctctcaaagg ctccaagaag ctggtgctgt ctgtatactc agctgggcgt atcccagggg
     1441 gctatgtgac caaccacatc tacacctggg tggacccaca gggtcgaagc acatcccctc
     1501 cctccagcct gccccagccc catggcagca ccctgagaca gcgtgaagat gaccgaagga
     1561 gtaccctcca cctcctgcag agtggagatg agaaaaaggt gaacctggtg ttgggggacg
     1621 gccggtcctt gggcctcacg atccgaggtg gagcagagta cggccttggc atttacatca
     1681 ctggtgtgga cccaggctct gaagcagaga gcagcggcct caaggttgga gaccagattc
     1741 tggaggtgaa tgggcggagc tttctcaaca tcctgcatga tgaggcagtg aagctgctca
     1801 agtcatcccg gcacctcatc ctgacggtga aggacgtcgg aaggctgccc cacgcacgta
     1861 ccaccgtgga ccagaccaag tggatcgcca gttcccggat cggggaaagc gtcgccaact
     1921 cagcagggtt tccaggggac cacacagaag aagggacaag caagccagga ttttacaagg
     1981 gcccagccgg ctcccaggtg accctgagca gcctggggaa tcagactcgt gcactgctgg
     2041 acgaccaagc caggcacctg ctgacagagc aggagcgcgc caccatgatg tactacctgg
     2101 cccagtaccg tggtggcacc atctctgtgg aggccatggt catggcactg tttgagttgc
     2161 tcaacacaca cgccaagttc tcactcctgt ctgaggtgag aagcatcatc tcaccccaag
     2221 acctggaccg ctttgaccac ctggtgctga ggcgcgagat cgagtctatg aaggcgaggc
     2281 agccccccgg ccccggggtt ggagacacgt attccatggt ttcctacagc gacacaggct
     2341 catccacagg cagccacggc acctctacaa ccgtcagctc ggccaggaat acattagacc
     2401 tggaaggaac cggtgagacc acccagggca gcaccaacgc tctcccggat gtgtctgtgg
     2461 atgatgtcaa atccccctca gaagatctgc ctggtatcaa gccacctcct cccccaccac
     2521 ccctggctca aggtcatgac cgcttgcttg gccagccacg gaagccaggg agggaggacc
     2581 ccgcacctct gtcttctgct gcccactcag gcattgtctt ctcagcacca cggaaccgca
     2641 gcccgccgcc agggactgct cccactccgg gaccttcctc agcacaggac tctccctcct
     2701 cccccattta tgcctccatc tcccatgcca accccagttc cagaaagccg ctggacaccc
     2761 acctggccct ggttaaccag caccccatcg gccccttccc tcgagtccag tccccacctc
     2821 acctgaagag ccctcctgca gagaccccag gagctggggc ctgccttcca ccaccatcac
     2881 cctctgaaca ccctgacgcc gtgggtgcaa accagcactt tgttctggtg gaggtgcacc
     2941 gtccggacag tgagcctgat gtgaatgaag tgcgggctct gccccagact cgcacagcct
     3001 ccacactctc tcagctctca gacagtgggc agaccctgag cgaggacagt ggcgtggatg
     3061 ccggggagac ggaggccagc acctcaggcc gaggcagaca gacagcatcc gctaagaaca
     3121 agaatggcaa ggagcagccc cggacggaga ggaccgcgga gggtgccaac aaacctcccg
     3181 gcctgctgga gccaacgtcc accctggtcc gtgtgaggaa aagtgcagcc acactgggca
     3241 tcgccattga gggcggtgcc aacacacgcc agcctctgcc caggatcgtc acaattcagc
     3301 gaggaggttc tgcccataac tgtggacagc tcaaggtggg ccacgtaatt ctggaagtga
     3361 atgggcagac acttcggggt aaggagcaca aggaggccgc ccgaatcatc gctgaggcct
     3421 tcaagaccaa ggagagagac tacatcgact ttctggtcac tgagttcaac gtgatgctct
     3481 aggggtgggg ccaagttcag ggctatcagc cggggtcaca ggcagagtct cccaccccac
     3541 cctgacacat acaccctgcc tgggcccttg gcccagacta ggagaagaag agggccagac
     3601 aaggcaagca gaaagtcagg ttaaaacctg tgtgccagaa acacagtagg ggctcaataa
     3661 aactatgtta ggtgaaggga aggaaggcag agtacatttc tctaggctgg agaggggtac
     3721 tgccacccca gatgcctagg cctttggctg tgaggacaca ggagagttca cacagactgc
     3781 ttcctgccag gaggaccttc agtgccacaa atgagccgcc agcacgcttg ttcacaccag
     3841 tcgcaccccc ttcctcctgg ctccgtgccc ctatggtatt tatttattta tttatttccc
     3901 ttcctgtgct tcaggggagc ccccccccca aaggccccag cttccctttg cactcccagc
     3961 ctatcccaga ggccttgcag gcgaccagca atgtcagtgt atttatatac agagcttatg
     4021 actttaattt ttcaataaat aaatctgaac aaggtt
//
