LOCUS       NM_008938               2662 bp    mRNA    linear   ROD 07-FEB-2025
DEFINITION  Mus musculus peripherin 2 (Prph2), mRNA.
ACCESSION   NM_008938
VERSION     NM_008938.2
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 2662)
  AUTHORS   Rutan Woods,C.T., Makia,M.S., Lewis,T.R., Crane,R., Zeibak,S.,
            Yu,P., Kakakhel,M., Castillo,C.M., Arshavsky,V.Y., Naash,M.I. and
            Al-Ubaidi,M.R.
  TITLE     Downregulation of rhodopsin is an effective therapeutic strategy in
            ameliorating peripherin-2-associated inherited retinal disorders
  JOURNAL   Nat Commun 15 (1), 4756 (2024)
   PUBMED   38834544
  REMARK    GeneRIF: Downregulation of rhodopsin is an effective therapeutic
            strategy in ameliorating peripherin-2-associated inherited retinal
            disorders.
            Erratum:[Nat Commun. 2024 Jul 19;15(1):6091. doi:
            10.1038/s41467-024-50140-3.. PMID: 39030161]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2662)
  AUTHORS   Vasudevan,S., Senapati,S., Pendergast,M. and Park,P.S.
  TITLE     Aggregation of rhodopsin mutants in mouse models of autosomal
            dominant retinitis pigmentosa
  JOURNAL   Nat Commun 15 (1), 1451 (2024)
   PUBMED   38365903
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2662)
  AUTHORS   Lewis,T.R., Makia,M.S., Castillo,C.M., Hao,Y., Al-Ubaidi,M.R.,
            Skiba,N.P., Conley,S.M., Arshavsky,V.Y. and Naash,M.I.
  TITLE     ROM1 is redundant to PRPH2 as a molecular building block of
            photoreceptor disc rims
  JOURNAL   Elife 12, 89444 (2023)
   PUBMED   37991486
  REMARK    GeneRIF: ROM1 is redundant to PRPH2 as a molecular building block
            of photoreceptor disc rims.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2662)
  AUTHORS   Ruiz-Pastor,M.J., Sanchez-Saez,X., Kutsyr,O., Albertos-Arranz,H.,
            Sanchez-Castillo,C., Ortuno-Lizaran,I., Martinez-Gil,N.,
            Vidal-Gil,L., Mendez,L., Sanchez-Martin,M., Maneu,V., Lax,P. and
            Cuenca,N.
  TITLE     Prph2 knock-in mice recapitulate human central areolar choroidal
            dystrophy retinal degeneration and exhibit aberrant synaptic
            remodeling and microglial activation
  JOURNAL   Cell Death Dis 14 (11), 711 (2023)
   PUBMED   37914688
  REMARK    GeneRIF: Prph2 knock-in mice recapitulate human central areolar
            choroidal dystrophy retinal degeneration and exhibit aberrant
            synaptic remodeling and microglial activation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2662)
  AUTHORS   Zhou,J. and Ekstrom,P.
  TITLE     Pyruvate Kinase 2, an Energy Metabolism Related Enzyme, May Have a
            Neuroprotective Function in Retinal Degeneration
  JOURNAL   ASN Neuro 15, 17590914231151534 (2023)
   PUBMED   36799552
REFERENCE   6  (bases 1 to 2662)
  AUTHORS   Travis,G.H., Groshan,K.R., Lloyd,M. and Bok,D.
  TITLE     Complete rescue of photoreceptor dysplasia and degeneration in
            transgenic retinal degeneration slow (rds) mice
  JOURNAL   Neuron 9 (1), 113-119 (1992)
   PUBMED   1385966
REFERENCE   7  (bases 1 to 2662)
  AUTHORS   Viczian,A., Sanyal,S., Toffenetti,J., Chader,G.J. and Farber,D.B.
  TITLE     Photoreceptor-specific mRNAs in mice carrying different allelic
            combinations at the rd and rds loci
  JOURNAL   Exp Eye Res 54 (6), 853-860 (1992)
   PUBMED   1381682
REFERENCE   8  (bases 1 to 2662)
  AUTHORS   Robb,R.M.
  TITLE     Cyclic nucleotide phosphodiesterase activity in normal mice and
            mice with retinal degeneration
  JOURNAL   Invest Ophthalmol Vis Sci 18 (10), 1097-1100 (1979)
   PUBMED   225287
REFERENCE   9  (bases 1 to 2662)
  AUTHORS   Demant,P., Ivanyi,D. and van Nie,R.
  TITLE     The map position of the rds gene on the 17th chromosome of the
            mouse
  JOURNAL   Tissue Antigens 13 (1), 53-55 (1979)
   PUBMED   419532
REFERENCE   10 (bases 1 to 2662)
  AUTHORS   van Nie,R., Ivanyi,D. and Demant,P.
  TITLE     A new H-2-linked mutation, rds, causing retinal degeneration in the
            mouse
  JOURNAL   Tissue Antigens 12 (2), 106-108 (1978)
   PUBMED   705766
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK044549.1, X14770.1 and BE950297.1.
            
            On Jul 14, 2018 this sequence version replaced NM_008938.1.
            
            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 :: AK136280.1, X14770.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849384 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AK044549.1         2-8
            8-2639              X14770.1           1-2632
            2640-2662           BE950297.1         1-23                c
FEATURES             Location/Qualifiers
     source          1..2662
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="17"
                     /map="17 22.91 cM"
     gene            1..2662
                     /gene="Prph2"
                     /gene_synonym="AOFMD; AVMD; Nmf193; PRPH; Rd-2; Rd2; rds;
                     Rds; RP7; Tspan22"
                     /note="peripherin 2"
                     /db_xref="GeneID:19133"
                     /db_xref="MGI:MGI:102791"
     exon            1..800
                     /gene="Prph2"
                     /gene_synonym="AOFMD; AVMD; Nmf193; PRPH; Rd-2; Rd2; rds;
                     Rds; RP7; Tspan22"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..1260
                     /gene="Prph2"
                     /gene_synonym="AOFMD; AVMD; Nmf193; PRPH; Rd-2; Rd2; rds;
                     Rds; RP7; Tspan22"
                     /note="retinal degeneration, slow (retinitis pigmentosa
                     7); retinal degeneration slow protein; retinal
                     degeneration 2"
                     /codon_start=1
                     /product="peripherin-2"
                     /protein_id="NP_032964.1"
                     /db_xref="CCDS:CCDS28844.1"
                     /db_xref="GeneID:19133"
                     /db_xref="MGI:MGI:102791"
                     /translation="MALLKVKFDQKKRVKLAQGLWLMNWLSVLAGIVLFSLGLFLKIE
                     LRKRSEVMNNSESHFVPNSLIGVGVLSCVFNSLAGKICYDALDPAKYAKWKPWLKPYL
                     AVCIFFNVILFLVALCCFLLRGSLESTLAYGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
                     IEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSS
                     PRPCIQYQLTNNSAHYSYDHQTEELNLWLRGCRAALLNYYSSLMNSMGVVTLLVWLFE
                     VSITAGLRYLHTALESVSNPEDPECESEGWLLEKSVPETWKAFLESFKKLGKSNQVEA
                     EGADAGPAPEAG"
     exon            801..1047
                     /gene="Prph2"
                     /gene_synonym="AOFMD; AVMD; Nmf193; PRPH; Rd-2; Rd2; rds;
                     Rds; RP7; Tspan22"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..2646
                     /gene="Prph2"
                     /gene_synonym="AOFMD; AVMD; Nmf193; PRPH; Rd-2; Rd2; rds;
                     Rds; RP7; Tspan22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2620..2625
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Prph2"
                     /gene_synonym="AOFMD; AVMD; Nmf193; PRPH; Rd-2; Rd2; rds;
                     Rds; RP7; Tspan22"
                     /note="hexamer: ATTAAA"
     polyA_site      2643
                     /gene="Prph2"
                     /gene_synonym="AOFMD; AVMD; Nmf193; PRPH; Rd-2; Rd2; rds;
                     Rds; RP7; Tspan22"
                     /note="major polyA site"
ORIGIN      
        1 ggctgggaag gactctgcag atacggcggc ctagattagc tccggctacc gttactgagt
       61 taacggggat cccaagctag ggaggcccca aaatgggcaa ctccctgcag cttgggccca
      121 tggtgctctt ccctagaccc tagcggtcca gccccggagc tcactcggat taggagtgga
      181 agctgaaccg tgggaggctg ctgaacgcac tcggtaagca tggcgctgct caaagtcaag
      241 tttgaccaga agaagcgggt caagttggcc caggggctct ggcttatgaa ctggctgtcc
      301 gtgttggccg gcatcgtcct cttcagcttg gggctgttct tgaagattga acttcgcaag
      361 aggagcgaag tgatgaataa ttctgagagc cactttgtgc ccaactccct gataggggtg
      421 ggggtcctgt cctgtgtctt caactctctg gctgggaaga tctgctatga tgccctggac
      481 ccggccaagt acgccaagtg gaagccctgg ctgaagccgt acctggctgt ctgcatcttc
      541 tttaacgtca tcctcttcct ggtggctctc tgctgctttc tgttgcgggg ctccctggag
      601 agcaccctgg cttacggact caagaatggg atgaagtatt atcgggatac ggacaccccc
      661 ggccggtgct tcatgaaaaa gaccatcgac atgctccaga ttgagttcaa gtgctgtggg
      721 aacaacggct tccgggactg gttcgagatt cagtggatca gcaatcgcta cctggacttc
      781 tcctccaagg aggtcaaaga tcgcatcaag agcaacgtgg atgggcggta cctggtggac
      841 ggcgtccctt tcagctgctg caaccccagc tccccgcggc cctgtatcca gtaccagctc
      901 accaacaact cggcgcacta cagctatgac catcagactg aggagctcaa cctctggctg
      961 cggggctgca gggccgctct gctgaattac tacagcagcc tcatgaattc catgggcgtc
     1021 gtcacacttc tcgtctggct ctttgaggtg agcatcactg ccggactccg ctacctccac
     1081 acagcgctgg agagtgtgtc taacccggag gaccccgagt gtgagagtga gggctggctg
     1141 ctggagaaga gcgtgcccga gacctggaag gcctttctgg agagctttaa gaagctgggc
     1201 aagagcaatc aggtggaggc tgaaggtgca gacgcaggcc cggctccaga ggctggctga
     1261 tggcctgggg cctctccccc tcctcaacac ttagtggact ccagggactg tggatacccc
     1321 ctttgtccag ctgaaagtcc aaatttcccg agaaagctgg tcacctactg actctccttg
     1381 atgtgggcct tgaagttcag ggtccttagg gcaggttaca aacatttgtg aaacggctgc
     1441 ctccagatgt gagtgactga acgatgcagc agatggccag gactgaacgc tcacaggact
     1501 ggccagtcca gggctctgtc caagtgtgag tccagatctc tcataggtga ctggccacac
     1561 caagggcctc tcccctcctc agtagtgtct gcctctttta agctacaagt tctgcatccc
     1621 aaccatcact tgaaacataa aagcaaggtg aaaataagaa aactctaagg gccatgttgt
     1681 ttgttttcct taatgatagg gttaacaggc tggtcatcat ttgcttcatg ttacacaatg
     1741 ggggagaagc aatgatattt ttttaagagt attggactcc ctcagaaggt tacctccaca
     1801 tagaaattca cagatggcac aggaggtaaa aactttcctt tagtaaaatc cagtgagtgt
     1861 cccatacctg ccccattccc agactcgcag tcacgtactt cagctggcat gtcccagcat
     1921 cctccactca ccaagtgctg ggtgagccac tgcctgagaa ggccccgggt gagtttgctg
     1981 tcctttgtgg gagagatgtg gtgatcaatt aggaatctgc cacttgggga ccaagccctg
     2041 cctcctggtg gtctcagatg gccacaacag tctttgtgga ctgcactgtc caggagggca
     2101 aagacccctg ggagcttctg ttctccctcc cacaaagcac tatgggaatg cttccgtatc
     2161 caggaagatt ctggagatag gttatctttc cgagctagcg tgtgtggaaa gttgctgttt
     2221 cttctgggaa cgtcaggcaa actctcaggg gaagcaaaaa tatgattttg gtggcacctt
     2281 gtgggatggc acccacaagg actgttgtgg ccatctgaga ccaccaggag gcagggcttg
     2341 gtccccaagg gctcagctgc tgctggcctg tgctgtgtgg ttctaactct ctcaggggga
     2401 agaccagatt agagatgctg gcacacccaa cgaactatgg ccccaatgtt ggttagtatt
     2461 ctgagtctct cagagcaaga aatggcccag atgctgagcc aggcatctgt ggcggggacc
     2521 ctcggggtcc tgccgtcacc tctcaggagg gctgagacta tggtgaaaga tactctagac
     2581 ccatttctaa ctatgctgtc aaccatcgta ttaagagata ttaaaaacta tattgtatga
     2641 aaatcaaaaa aaaaaaaaaa aa
//
