Incidental Mutation 'IGL02397:Adam12'
ID 291738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam12
Ensembl Gene ENSMUSG00000054555
Gene Name ADAM metallopeptidase domain 12
Synonyms Mltna, ADAM12
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.386) question?
Stock # IGL02397
Quality Score
Status
Chromosome 7
Chromosomal Location 133484928-133826826 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 133511548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067680] [ENSMUST00000138363]
AlphaFold Q61824
Predicted Effect probably benign
Transcript: ENSMUST00000067680
SMART Domains Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555

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 benign
Transcript: ENSMUST00000138363
SMART Domains Protein: ENSMUSP00000114874
Gene: ENSMUSG00000054555

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,623,834 (GRCm39) N400S probably benign Het
Adam5 T C 8: 25,234,149 (GRCm39) probably benign Het
Amn A T 12: 111,240,913 (GRCm39) Y139F possibly damaging Het
Ano10 C A 9: 122,090,458 (GRCm39) R285L probably damaging Het
Atad2b A G 12: 5,024,046 (GRCm39) Y57C probably damaging Het
Brd8 T C 18: 34,737,926 (GRCm39) K786R probably damaging Het
Cacna2d1 T C 5: 16,525,162 (GRCm39) probably benign Het
Card9 C T 2: 26,242,341 (GRCm39) D532N probably damaging Het
Cd22 T C 7: 30,577,050 (GRCm39) T86A probably benign Het
Cebpz A T 17: 79,230,690 (GRCm39) D842E possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 A G 1: 10,178,690 (GRCm39) N713S possibly damaging Het
Eml5 T C 12: 98,756,933 (GRCm39) T1899A probably benign Het
Fpgs T C 2: 32,575,801 (GRCm39) T381A probably damaging Het
Frmd7 G A X: 49,984,775 (GRCm39) T465I possibly damaging Het
Gm9837 A T 11: 53,360,987 (GRCm39) probably benign Het
Hectd3 C A 4: 116,860,333 (GRCm39) A816D possibly damaging Het
Itpripl2 A G 7: 118,089,519 (GRCm39) W347R probably damaging Het
Kcnc3 A G 7: 44,245,218 (GRCm39) T503A probably damaging Het
Mmadhc T C 2: 50,178,992 (GRCm39) E142G possibly damaging Het
Nabp2 T A 10: 128,244,192 (GRCm39) N138I possibly damaging Het
Obscn A G 11: 58,967,725 (GRCm39) V2902A possibly damaging Het
Rbm8a2 T C 1: 175,806,204 (GRCm39) D91G probably damaging Het
Samd3 A T 10: 26,109,474 (GRCm39) Y134F possibly damaging Het
Slc11a2 A G 15: 100,299,530 (GRCm39) F58S probably damaging Het
Slitrk4 T C X: 63,316,290 (GRCm39) T126A probably damaging Het
Sspo C A 6: 48,438,572 (GRCm39) P1547T probably benign Het
Tecta T C 9: 42,306,294 (GRCm39) S45G probably damaging Het
Tenm3 T C 8: 48,689,729 (GRCm39) T1937A possibly damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trmt1l T A 1: 151,315,282 (GRCm39) I156N probably damaging Het
Vmn1r71 C T 7: 10,482,199 (GRCm39) R163Q probably benign Het
Ythdf2 C T 4: 131,938,757 (GRCm39) G13D probably damaging Het
Zbtb7c A T 18: 76,270,047 (GRCm39) Y45F possibly damaging Het
Zfc3h1 G A 10: 115,243,890 (GRCm39) M740I probably damaging Het
Other mutations in Adam12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Adam12 APN 7 133,511,610 (GRCm39) missense possibly damaging 0.51
IGL01403:Adam12 APN 7 133,521,339 (GRCm39) missense probably benign 0.00
IGL01482:Adam12 APN 7 133,569,577 (GRCm39) missense probably damaging 1.00
IGL01922:Adam12 APN 7 133,539,201 (GRCm39) nonsense probably null
IGL03401:Adam12 APN 7 133,518,192 (GRCm39) missense probably damaging 1.00
R0122:Adam12 UTSW 7 133,614,077 (GRCm39) missense probably benign 0.45
R0200:Adam12 UTSW 7 133,576,145 (GRCm39) splice site probably null
R0463:Adam12 UTSW 7 133,576,145 (GRCm39) splice site probably null
R0927:Adam12 UTSW 7 133,599,959 (GRCm39) missense probably damaging 1.00
R1258:Adam12 UTSW 7 133,539,176 (GRCm39) missense probably damaging 1.00
R1440:Adam12 UTSW 7 133,533,543 (GRCm39) missense probably benign 0.03
R1483:Adam12 UTSW 7 133,531,754 (GRCm39) missense probably benign 0.41
R1692:Adam12 UTSW 7 133,489,673 (GRCm39) makesense probably null
R1797:Adam12 UTSW 7 133,569,590 (GRCm39) missense probably benign 0.03
R2134:Adam12 UTSW 7 133,614,017 (GRCm39) nonsense probably null
R2230:Adam12 UTSW 7 133,521,347 (GRCm39) missense probably damaging 1.00
R2350:Adam12 UTSW 7 133,521,253 (GRCm39) missense probably damaging 1.00
R2944:Adam12 UTSW 7 133,577,236 (GRCm39) missense probably null 0.02
R3688:Adam12 UTSW 7 133,566,525 (GRCm39) nonsense probably null
R3747:Adam12 UTSW 7 133,774,594 (GRCm39) missense probably damaging 0.96
R3749:Adam12 UTSW 7 133,774,594 (GRCm39) missense probably damaging 0.96
R3750:Adam12 UTSW 7 133,774,594 (GRCm39) missense probably damaging 0.96
R4028:Adam12 UTSW 7 133,531,725 (GRCm39) missense probably damaging 1.00
R4130:Adam12 UTSW 7 133,514,653 (GRCm39) missense probably damaging 1.00
R4131:Adam12 UTSW 7 133,514,653 (GRCm39) missense probably damaging 1.00
R4346:Adam12 UTSW 7 133,583,264 (GRCm39) missense possibly damaging 0.82
R4701:Adam12 UTSW 7 133,518,191 (GRCm39) missense possibly damaging 0.64
R4887:Adam12 UTSW 7 133,774,550 (GRCm39) missense possibly damaging 0.74
R5355:Adam12 UTSW 7 133,489,671 (GRCm39) makesense probably null
R5468:Adam12 UTSW 7 133,577,202 (GRCm39) missense probably damaging 1.00
R5486:Adam12 UTSW 7 133,509,401 (GRCm39) missense possibly damaging 0.75
R5990:Adam12 UTSW 7 133,533,465 (GRCm39) missense probably damaging 1.00
R6504:Adam12 UTSW 7 133,531,713 (GRCm39) missense probably damaging 1.00
R6783:Adam12 UTSW 7 133,576,126 (GRCm39) missense probably damaging 1.00
R7117:Adam12 UTSW 7 133,518,191 (GRCm39) missense probably benign 0.00
R7263:Adam12 UTSW 7 133,521,240 (GRCm39) missense possibly damaging 0.68
R7749:Adam12 UTSW 7 133,826,542 (GRCm39) missense unknown
R7820:Adam12 UTSW 7 133,599,917 (GRCm39) missense probably benign 0.00
R7880:Adam12 UTSW 7 133,511,691 (GRCm39) missense possibly damaging 0.94
R7891:Adam12 UTSW 7 133,599,961 (GRCm39) missense probably benign 0.00
R8114:Adam12 UTSW 7 133,569,617 (GRCm39) missense probably damaging 1.00
R8160:Adam12 UTSW 7 133,569,770 (GRCm39) splice site probably null
R8683:Adam12 UTSW 7 133,491,929 (GRCm39) missense possibly damaging 0.49
R9236:Adam12 UTSW 7 133,614,022 (GRCm39) missense probably benign 0.03
R9277:Adam12 UTSW 7 133,521,561 (GRCm39) missense probably benign 0.00
R9480:Adam12 UTSW 7 133,736,470 (GRCm39) missense probably damaging 0.98
R9515:Adam12 UTSW 7 133,509,373 (GRCm39) missense probably benign 0.03
R9599:Adam12 UTSW 7 133,566,454 (GRCm39) missense probably damaging 0.99
X0057:Adam12 UTSW 7 133,614,044 (GRCm39) nonsense probably null
Posted On 2015-04-16