Incidental Mutation 'IGL01482:Adam12'
ID 88656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam12
Ensembl Gene ENSMUSG00000054555
Gene Name a disintegrin and metallopeptidase domain 12 (meltrin alpha)
Synonyms Mltna, ADAM12
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.400) question?
Stock # IGL01482
Quality Score
Status
Chromosome 7
Chromosomal Location 133883199-134232146 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 133967848 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 299 (D299E)
Ref Sequence ENSEMBL: ENSMUSP00000065213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067680]
AlphaFold Q61824
Predicted Effect probably damaging
Transcript: ENSMUST00000067680
AA Change: D299E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: D299E

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Pep_M12B_propep 35 165 1.1e-27 PFAM
Pfam:Reprolysin_5 210 392 2.1e-24 PFAM
Pfam:Reprolysin_4 210 408 3.8e-16 PFAM
Pfam:Reprolysin 212 414 1.4e-74 PFAM
Pfam:Reprolysin_2 232 404 6e-18 PFAM
Pfam:Reprolysin_3 236 359 1.3e-16 PFAM
DISIN 431 506 4.29e-42 SMART
ACR 507 650 1.75e-67 SMART
transmembrane domain 705 727 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein that localizes to the cell surface. About a third of the mice lacking the encoded protein die before weaning. Overexpression of the encoded protein in a mouse model of Duchenne muscular dystrophy alleviates the muscle pathology by preventing cell necrosis and inflammation. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A T 1: 120,171,471 D98V probably benign Het
Aatf G A 11: 84,470,710 R356C possibly damaging Het
Abca15 A T 7: 120,382,746 T1095S probably benign Het
Abca9 A G 11: 110,120,773 F1148S probably benign Het
Alyref A T 11: 120,595,936 N166K possibly damaging Het
Atxn1 A T 13: 45,557,314 I714N probably benign Het
Bves A G 10: 45,354,806 E291G possibly damaging Het
Chrm2 A G 6: 36,523,757 N183S possibly damaging Het
Dennd2a T C 6: 39,480,309 H733R probably damaging Het
Erbb3 C T 10: 128,572,929 G762S possibly damaging Het
Gm29326 A C 7: 29,560,711 noncoding transcript Het
Gm9866 T A 12: 27,141,894 noncoding transcript Het
Itgb2l A T 16: 96,438,748 L17Q probably damaging Het
Jade1 T A 3: 41,613,502 D668E probably benign Het
Ksr1 G A 11: 79,036,583 T308I probably damaging Het
Mfap4 A G 11: 61,487,757 D177G probably damaging Het
Muc2 A T 7: 141,754,060 I369F probably damaging Het
Mut C T 17: 40,956,271 R579C probably damaging Het
Myh13 A T 11: 67,352,068 M936L probably benign Het
Nckap5 G T 1: 126,023,160 S1598Y probably damaging Het
Nlrp10 T A 7: 108,926,952 M60L probably benign Het
Nlrp12 T C 7: 3,235,160 N739S possibly damaging Het
Olfr482 A C 7: 108,095,486 V28G probably benign Het
Pappa A T 4: 65,156,034 H275L probably benign Het
Plekhm2 A G 4: 141,630,029 S711P probably damaging Het
Ptpn1 G A 2: 167,967,792 V107M probably damaging Het
Ptprf G A 4: 118,212,454 R1498C probably damaging Het
Rhobtb2 A G 14: 69,796,588 I396T possibly damaging Het
Ryr1 A G 7: 29,052,337 F3668S probably damaging Het
Serpinb6d T C 13: 33,671,363 V340A probably benign Het
Spaca3 G T 11: 80,867,684 V158L probably benign Het
Tdp1 A G 12: 99,891,380 N66S probably benign Het
Tmem132d A T 5: 128,269,206 I84N probably damaging Het
Uggt2 T A 14: 119,057,645 D523V probably damaging Het
Usp17la A T 7: 104,859,393 M1L probably benign Het
Yeats2 C T 16: 20,222,921 T1202I probably damaging Het
Other mutations in Adam12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Adam12 APN 7 133909881 missense possibly damaging 0.51
IGL01403:Adam12 APN 7 133919610 missense probably benign 0.00
IGL01922:Adam12 APN 7 133937472 nonsense probably null
IGL02397:Adam12 APN 7 133909819 splice site probably benign
IGL03401:Adam12 APN 7 133916463 missense probably damaging 1.00
R0122:Adam12 UTSW 7 134012348 missense probably benign 0.45
R0200:Adam12 UTSW 7 133974416 splice site probably null
R0463:Adam12 UTSW 7 133974416 splice site probably null
R0927:Adam12 UTSW 7 133998230 missense probably damaging 1.00
R1258:Adam12 UTSW 7 133937447 missense probably damaging 1.00
R1440:Adam12 UTSW 7 133931814 missense probably benign 0.03
R1483:Adam12 UTSW 7 133930025 missense probably benign 0.41
R1692:Adam12 UTSW 7 133887944 makesense probably null
R1797:Adam12 UTSW 7 133967861 missense probably benign 0.03
R2134:Adam12 UTSW 7 134012288 nonsense probably null
R2230:Adam12 UTSW 7 133919618 missense probably damaging 1.00
R2350:Adam12 UTSW 7 133919524 missense probably damaging 1.00
R2944:Adam12 UTSW 7 133975507 missense probably null 0.02
R3688:Adam12 UTSW 7 133964796 nonsense probably null
R3747:Adam12 UTSW 7 134172865 missense probably damaging 0.96
R3749:Adam12 UTSW 7 134172865 missense probably damaging 0.96
R3750:Adam12 UTSW 7 134172865 missense probably damaging 0.96
R4028:Adam12 UTSW 7 133929996 missense probably damaging 1.00
R4130:Adam12 UTSW 7 133912924 missense probably damaging 1.00
R4131:Adam12 UTSW 7 133912924 missense probably damaging 1.00
R4346:Adam12 UTSW 7 133981535 missense possibly damaging 0.82
R4701:Adam12 UTSW 7 133916462 missense possibly damaging 0.64
R4887:Adam12 UTSW 7 134172821 missense possibly damaging 0.74
R5355:Adam12 UTSW 7 133887942 makesense probably null
R5468:Adam12 UTSW 7 133975473 missense probably damaging 1.00
R5486:Adam12 UTSW 7 133907672 missense possibly damaging 0.75
R5990:Adam12 UTSW 7 133931736 missense probably damaging 1.00
R6504:Adam12 UTSW 7 133929984 missense probably damaging 1.00
R6783:Adam12 UTSW 7 133974397 missense probably damaging 1.00
R7117:Adam12 UTSW 7 133916462 missense probably benign 0.00
R7263:Adam12 UTSW 7 133919511 missense possibly damaging 0.68
R7749:Adam12 UTSW 7 134224813 missense unknown
R7820:Adam12 UTSW 7 133998188 missense probably benign 0.00
R7880:Adam12 UTSW 7 133909962 missense possibly damaging 0.94
R7891:Adam12 UTSW 7 133998232 missense probably benign 0.00
R8114:Adam12 UTSW 7 133967888 missense probably damaging 1.00
R8160:Adam12 UTSW 7 133968041 splice site probably null
R8683:Adam12 UTSW 7 133890200 missense possibly damaging 0.49
R9236:Adam12 UTSW 7 134012293 missense probably benign 0.03
R9277:Adam12 UTSW 7 133919832 missense probably benign 0.00
R9480:Adam12 UTSW 7 134134741 missense probably damaging 0.98
R9515:Adam12 UTSW 7 133907644 missense probably benign 0.03
R9599:Adam12 UTSW 7 133964725 missense probably damaging 0.99
X0057:Adam12 UTSW 7 134012315 nonsense probably null
Posted On 2013-11-18