LOCUS       NM_016881               1886 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus phosphomannomutase 2 (Pmm2), transcript variant 1,
            mRNA.
ACCESSION   NM_016881
VERSION     NM_016881.3
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 1886)
  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   2  (bases 1 to 1886)
  AUTHORS   Segovia-Falquina,C., Vilas,A., Leal,F., Del Cano-Ochoa,F.,
            Kirk,E.P., Ugarte,M., Ramon-Maiques,S., Gamez,A. and Perez,B.
  TITLE     A functional platform for the selection of pathogenic variants of
            PMM2 amenable to rescue via the use of pharmacological chaperones
  JOURNAL   Hum Mutat 43 (10), 1430-1442 (2022)
   PUBMED   35789514
  REMARK    GeneRIF: A functional platform for the selection of pathogenic
            variants of PMM2 amenable to rescue via the use of pharmacological
            chaperones.
REFERENCE   3  (bases 1 to 1886)
  AUTHORS   Mohammed,Y., Michaud,S.A., Petrosova,H., Yang,J., Ganguly,M.,
            Schibli,D., Flenniken,A.M., Nutter,L.M.J., Adissu,H.A.,
            Lloyd,K.C.K., McKerlie,C. and Borchers,C.H.
  TITLE     Proteotyping of knockout mouse strains reveals sex- and
            strain-specific signatures in blood plasma
  JOURNAL   NPJ Syst Biol Appl 7 (1), 25 (2021)
   PUBMED   34050187
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1886)
  AUTHORS   Chan,B., Clasquin,M., Smolen,G.A., Histen,G., Powe,J., Chen,Y.,
            Lin,Z., Lu,C., Liu,Y., Cang,Y., Yan,Z., Xia,Y., Thompson,R.,
            Singleton,C., Dorsch,M., Silverman,L., Su,S.M., Freeze,H.H. and
            Jin,S.
  TITLE     A mouse model of a human congenital disorder of glycosylation
            caused by loss of PMM2
  JOURNAL   Hum Mol Genet 25 (11), 2182-2193 (2016)
   PUBMED   27053713
  REMARK    GeneRIF: This functional mouse model of PMM2-CDG, in vitro assays
            and identification of the novel gp130 biomarker all shed light on
            the human disease, and moreover, provide the essential tools to
            test potential therapeutics for this untreatable disease.
REFERENCE   5  (bases 1 to 1886)
  AUTHORS   Scekic-Zahirovic,J., Sendscheid,O., El Oussini,H., Jambeau,M.,
            Sun,Y., Mersmann,S., Wagner,M., Dieterle,S., Sinniger,J.,
            Dirrig-Grosch,S., Drenner,K., Birling,M.C., Qiu,J., Zhou,Y., Li,H.,
            Fu,X.D., Rouaux,C., Shelkovnikova,T., Witting,A., Ludolph,A.C.,
            Kiefer,F., Storkebaum,E., Lagier-Tourenne,C. and Dupuis,L.
  TITLE     Toxic gain of function from mutant FUS protein is crucial to
            trigger cell autonomous motor neuron loss
  JOURNAL   EMBO J 35 (10), 1077-1097 (2016)
   PUBMED   26951610
REFERENCE   6  (bases 1 to 1886)
  AUTHORS   Cromphout,K., Vleugels,W., Heykants,L., Schollen,E., Keldermans,L.,
            Sciot,R., D'Hooge,R., De Deyn,P.P., von Figura,K., Hartmann,D.,
            Korner,C. and Matthijs,G.
  TITLE     The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is
            not essential for normal mouse development
  JOURNAL   Mol Cell Biol 26 (15), 5621-5635 (2006)
   PUBMED   16847318
REFERENCE   7  (bases 1 to 1886)
  AUTHORS   Thiel,C., Lubke,T., Matthijs,G., von Figura,K. and Korner,C.
  TITLE     Targeted disruption of the mouse phosphomannomutase 2 gene causes
            early embryonic lethality
  JOURNAL   Mol Cell Biol 26 (15), 5615-5620 (2006)
   PUBMED   16847317
  REMARK    GeneRIF: These results indicate that Pmm2 is essential for early
            development of mice.
REFERENCE   8  (bases 1 to 1886)
  AUTHORS   Cromphout,K., Keldermans,L., Snellinx,A., Collet,J.F.,
            Grunewald,S., De Geest,N., Sciot,R., Vanschaftingen,E., Jaeken,J.,
            Matthijs,G. and Hartmann,D.
  TITLE     Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2
            during brain development
  JOURNAL   Eur J Neurosci 22 (4), 991-996 (2005)
   PUBMED   16115222
  REMARK    GeneRIF: Pmm2 immunoreactivity seen in prenatal brain until
            postnatal and adult stage and restricted in neuronal cell bodies.
REFERENCE   9  (bases 1 to 1886)
  AUTHORS   Heykants,L., Schollen,E., Grunewald,S. and Matthijs,G.
  TITLE     Identification and localization of two mouse phosphomannomutase
            genes, Pmm1 and Pmm2
  JOURNAL   Gene 270 (1-2), 53-59 (2001)
   PUBMED   11404002
REFERENCE   10 (bases 1 to 1886)
  AUTHORS   Siu,G., Hedrick,S.M. and Brian,A.A.
  TITLE     Isolation of the murine intercellular adhesion molecule 1 (ICAM-1)
            gene. ICAM-1 enhances antigen-specific T cell activation
  JOURNAL   J Immunol 143 (11), 3813-3820 (1989)
   PUBMED   2479693
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC115005.11.
            
            On Apr 18, 2018 this sequence version replaced NM_016881.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AK145402.1, AF043514.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-122               AC115005.11        95192-95313         c
            123-234             AC115005.11        90171-90282         c
            235-311             AC115005.11        87575-87651         c
            312-403             AC115005.11        86756-86847         c
            404-503             AC115005.11        84273-84372         c
            504-579             AC115005.11        84063-84138         c
            580-695             AC115005.11        81495-81610         c
            696-833             AC115005.11        77332-77469         c
            834-1886            AC115005.11        75412-76464         c
FEATURES             Location/Qualifiers
     source          1..1886
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 4.24 cM"
     gene            1..1886
                     /gene="Pmm2"
                     /note="phosphomannomutase 2"
                     /db_xref="GeneID:54128"
                     /db_xref="MGI:MGI:1859214"
     exon            1..122
                     /gene="Pmm2"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..797
                     /gene="Pmm2"
                     /EC_number="5.4.2.8"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="phosphomannomutase 2 isoform 1"
                     /protein_id="NP_058577.1"
                     /db_xref="CCDS:CCDS27941.1"
                     /db_xref="GeneID:54128"
                     /db_xref="MGI:MGI:1859214"
                     /translation="MATLCLFDMDGTLTAPRQKITEEMDGFLQKLRQKTKIGVVGGSD
                     FEKLQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCKQNIQGHLGEDVIQDLINYCLSY
                     IANIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKEHIRQKFVADLRKE
                     FAGKGLTFSIGGQISIDVFPEGWDKRYCLRHLEHAGYKTIYFFGDKTMPGGNDHEIFT
                     DPRTVGYTVTAPEDTRRICEGLFP"
     exon            123..234
                     /gene="Pmm2"
                     /inference="alignment:Splign:2.1.0"
     exon            235..311
                     /gene="Pmm2"
                     /inference="alignment:Splign:2.1.0"
     exon            312..403
                     /gene="Pmm2"
                     /inference="alignment:Splign:2.1.0"
     exon            404..503
                     /gene="Pmm2"
                     /inference="alignment:Splign:2.1.0"
     exon            504..579
                     /gene="Pmm2"
                     /inference="alignment:Splign:2.1.0"
     exon            580..695
                     /gene="Pmm2"
                     /inference="alignment:Splign:2.1.0"
     exon            696..833
                     /gene="Pmm2"
                     /inference="alignment:Splign:2.1.0"
     exon            834..1886
                     /gene="Pmm2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1781..1786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pmm2"
                     /note="hexamer: AATAAA"
     polyA_site      1809
                     /gene="Pmm2"
                     /note="major polyA site"
ORIGIN      
        1 ggacccggaa gttccgggta gagttccggg tagagttcct ggtgcggtcg aggtttctga
       61 ctggagaaat ggccactctc tgtctcttcg acatggatgg gaccctgact gccccgcggc
      121 agaaaattac agaagaaatg gatggctttc tacaaaaatt gaggcagaag accaaaattg
      181 gagtggtagg tgggtcagat tttgagaaac tgcaagagca actgggaaat gatgtggttg
      241 agaaatacga ttatgtgttt ccagagaatg gcttggtagc gtacaaagat gggaagctat
      301 tgtgtaagca gaatattcaa gggcatctgg gggaggatgt gatccaagac ctgatcaact
      361 actgtctgag ctacattgca aacattaaac tccctaagaa aaggggaact ttcattgaat
      421 tccgaaatgg catgttgaat gtgtccccaa ttggaagaag ctgcagccaa gaagaacgaa
      481 ttgaattcta cgaactcgat aaaaaagaac atatacgaca aaagttcgta gcagacctgc
      541 ggaaggagtt tgcagggaaa ggcctcacgt tctccatagg tggccaaatc agcattgacg
      601 tctttcctga aggatgggat aagcggtatt gcctgagaca cctggaacat gctggctata
      661 agaccattta tttctttgga gacaagacta tgccgggtgg caatgaccat gagatcttca
      721 cagaccccag aactgtgggc tacacagtga cggcccccga agacacacgc aggatctgtg
      781 aggggctctt cccttgaccc gaggagtgcc ggactgacca acaacactga aaggggcatc
      841 tgatgatgaa agagagcagc cacccagagt tacccacctg ggatagaact gaagacttct
      901 gtgacatgct ccgtctgcaa cctgtggtgg aggctgaggc aggaaggaac accactattc
      961 tgtcaaaggg ttaatgtttc tgttttcaag ccagcttccc ctctgtgagc cacagacgac
     1021 agtgtggcct gctgcctgac agatagctga ccaagtgaca actgatccca cagtttacac
     1081 ttgcactggc ctggctggcc atctctattt gctatatctt aaagccagac tgctttcctg
     1141 tcaccgcagg aggggaggac agaggaccca gcaaagcagc acctcactgc agtcctcttt
     1201 aacccccagg ctgaccaacc taggtagcag acgcagtacc taaggccaca gcagcagggg
     1261 tgctctccag cctcttcttg gagagtgcac gtgtgtcctc cagaagctcg gggacagcct
     1321 tccaagaaca cttcccaggc agcttcccag tgcccaacca ccatatgtct ccactgccct
     1381 acccttggct gcccctactc tgtccacacc cacagcagaa tgccaggtcc tcaccctgtg
     1441 gcatccttgg gttttatggc agtgctgtga agcccactga agggacagca ccatacctca
     1501 cttctcagtc tggtcacttt aaccctcagt gtcaaaaggg tgtctacccc aggttggcag
     1561 agaacttggc ttctgagagc tgctttcccc acttggctcc agtaatgctg gagcccctag
     1621 ctgtcctggc tgtagcagtt ccaagccagc ccagatgctg tgttctacct gcaggtccag
     1681 tgtctcccac tgtgccaggt ggactccagg ccttgccagt tcctacagtg gctatcacag
     1741 aacccccctg ccccactgtc ttcattcaac tctcccacct aataaagggc ctctgctctc
     1801 caggcagtac atgattgtgg ccgaatcata catgtatgat cttgctgatg gggcagtgtg
     1861 gctgcccagg tccaaggact tgtgct
//
