Incidental Mutation 'IGL03401:Adam12'
ID421419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam12
Ensembl Gene ENSMUSG00000054555
Gene Namea disintegrin and metallopeptidase domain 12 (meltrin alpha)
SynonymsMltna, ADAM12
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.325) question?
Stock #IGL03401
Quality Score
Status
Chromosome7
Chromosomal Location133883199-134232146 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133916463 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 327 (N327K)
Ref Sequence ENSEMBL: ENSMUSP00000114874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067680] [ENSMUST00000138363]
Predicted Effect probably damaging
Transcript: ENSMUST00000067680
AA Change: N649K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: N649K

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
Predicted Effect probably damaging
Transcript: ENSMUST00000138363
AA Change: N327K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114874
Gene: ENSMUSG00000054555
AA Change: N327K

DomainStartEndE-ValueType
Pfam:Reprolysin 4 92 4.5e-24 PFAM
Pfam:Reprolysin_2 6 82 2.1e-11 PFAM
Pfam:Reprolysin_5 9 70 2.8e-11 PFAM
Pfam:Reprolysin_4 11 87 8.9e-8 PFAM
DISIN 109 184 4.29e-42 SMART
ACR 185 328 1.75e-67 SMART
transmembrane domain 383 405 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,662,266 R581* probably null Het
6430573F11Rik A C 8: 36,505,669 D91A probably damaging Het
Actn1 A T 12: 80,168,967 L799* probably null Het
Adamts9 A G 6: 92,786,868 V1314A probably damaging Het
Agbl4 G T 4: 111,119,019 R191L probably damaging Het
Ano6 T C 15: 95,949,905 I611T probably damaging Het
Arhgef26 T A 3: 62,423,532 S556T possibly damaging Het
AW209491 A G 13: 14,637,456 D298G probably benign Het
Cc2d1a A G 8: 84,134,629 M763T probably benign Het
Cep290 A G 10: 100,500,265 D388G probably benign Het
Cept1 T C 3: 106,533,390 E151G probably damaging Het
Chat T C 14: 32,452,569 K139E probably damaging Het
Edc4 T A 8: 105,887,514 Y7* probably null Het
Enpep T A 3: 129,312,620 Q319L probably benign Het
F13a1 A G 13: 36,898,080 I550T probably benign Het
Fbxw19 A G 9: 109,494,970 probably null Het
Frem3 T G 8: 80,614,541 D1154E probably damaging Het
Frmpd1 G T 4: 45,284,383 C1068F probably benign Het
Fsip2 C A 2: 82,990,470 P5516T probably benign Het
Hyou1 G A 9: 44,384,909 A429T probably damaging Het
Lrp1b C T 2: 41,110,778 E2145K probably benign Het
Map1b A T 13: 99,427,268 V2397D unknown Het
Mcm3ap T C 10: 76,484,649 probably benign Het
Mgst2 T G 3: 51,664,512 S20R possibly damaging Het
Nr4a3 T A 4: 48,070,987 probably null Het
Nup93 T A 8: 94,309,711 probably null Het
Olfr397 T C 11: 73,965,562 probably benign Het
Papola A T 12: 105,829,122 T611S probably benign Het
Pik3ca C A 3: 32,437,814 probably null Het
Pklr T C 3: 89,142,729 V337A probably benign Het
Prl7b1 A G 13: 27,601,981 Y235H probably benign Het
Proc T C 18: 32,123,273 Y447C possibly damaging Het
Pum1 T C 4: 130,743,681 probably benign Het
Rimklb A T 6: 122,464,118 I32N probably damaging Het
Rrm1 T A 7: 102,465,744 D644E possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Shbg A G 11: 69,615,099 S361P probably damaging Het
Zfp647 T A 15: 76,911,368 H364L probably damaging Het
Zfp715 A T 7: 43,299,736 S267T probably benign 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
IGL01482:Adam12 APN 7 133967848 missense probably damaging 1.00
IGL01922:Adam12 APN 7 133937472 nonsense probably null
IGL02397:Adam12 APN 7 133909819 splice site probably benign
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
X0057:Adam12 UTSW 7 134012315 nonsense probably null
Posted On2016-08-02