Incidental Mutation 'R1797:Adam12'
ID 202374
Institutional Source Beutler Lab
Gene Symbol Adam12
Ensembl Gene ENSMUSG00000054555
Gene Name ADAM metallopeptidase domain 12
Synonyms Mltna, ADAM12
MMRRC Submission 039827-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.386) question?
Stock # R1797 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 133484928-133826826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 133569590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 295 (R295L)
Ref Sequence ENSEMBL: ENSMUSP00000065213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067680]
AlphaFold Q61824
Predicted Effect probably benign
Transcript: ENSMUST00000067680
AA Change: R295L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: R295L

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
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,089,285 (GRCm39) K200E possibly damaging Het
Abcc2 A G 19: 43,803,225 (GRCm39) E687G possibly damaging Het
Abcc2 A T 19: 43,822,426 (GRCm39) Q1421H probably damaging Het
Abcg3 C T 5: 105,087,030 (GRCm39) S534N possibly damaging Het
Acp1 A G 12: 30,946,113 (GRCm39) probably null Het
Albfm1 A T 5: 90,727,460 (GRCm39) E359D probably damaging Het
Alg1 C A 16: 5,057,007 (GRCm39) H213Q probably benign Het
Ap4b1 T A 3: 103,726,149 (GRCm39) W410R possibly damaging Het
As3mt A G 19: 46,713,373 (GRCm39) T307A possibly damaging Het
Cdc14a T C 3: 116,115,843 (GRCm39) I289V probably damaging Het
Cdk17 A G 10: 93,044,114 (GRCm39) I18V possibly damaging Het
Cep131 C T 11: 119,964,562 (GRCm39) probably null Het
Clca3a2 A G 3: 144,503,398 (GRCm39) Y851H probably benign Het
Cnih2 T C 19: 5,144,314 (GRCm39) K66E probably benign Het
Cpsf3 T A 12: 21,356,851 (GRCm39) N491K probably benign Het
Cux1 C T 5: 136,304,169 (GRCm39) E1253K probably benign Het
Dcc A C 18: 71,500,232 (GRCm39) L1005R probably damaging Het
Ddx19b A T 8: 111,739,439 (GRCm39) M200K probably damaging Het
Ech1 A G 7: 28,531,288 (GRCm39) Y292C probably damaging Het
Edc4 G T 8: 106,617,717 (GRCm39) A1121S probably benign Het
Eml6 T A 11: 29,832,041 (GRCm39) I210F probably benign Het
Fam135b T C 15: 71,324,290 (GRCm39) T1226A probably benign Het
Flg2 C T 3: 93,108,283 (GRCm39) R104C probably damaging Het
Frzb T C 2: 80,276,872 (GRCm39) I105V possibly damaging Het
Gli3 A G 13: 15,888,097 (GRCm39) D504G probably damaging Het
Gm42669 A T 5: 107,655,683 (GRCm39) K1161* probably null Het
Gm6665 T C 18: 31,953,186 (GRCm39) E63G possibly damaging Het
Gm9923 T C 10: 72,145,593 (GRCm39) V148A probably benign Het
Hoxc5 T C 15: 102,922,866 (GRCm39) I118T probably benign Het
Hsp90b1 A G 10: 86,537,609 (GRCm39) V232A possibly damaging Het
Impdh1 T A 6: 29,207,168 (GRCm39) I59F probably damaging Het
Iqch G A 9: 63,495,659 (GRCm39) P111S possibly damaging Het
Itih1 G T 14: 30,651,856 (GRCm39) Q829K probably damaging Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Kmt5b G T 19: 3,864,833 (GRCm39) E632D probably benign Het
L2hgdh C T 12: 69,746,340 (GRCm39) M373I probably benign Het
Map3k4 C T 17: 12,482,906 (GRCm39) E604K probably benign Het
Mok T A 12: 110,774,479 (GRCm39) Y420F probably benign Het
Nedd1 G A 10: 92,534,601 (GRCm39) T303I possibly damaging Het
Nipal4 T A 11: 46,042,160 (GRCm39) M174L probably benign Het
Or6c213 A C 10: 129,574,578 (GRCm39) I69M probably benign Het
Pag1 T A 3: 9,758,946 (GRCm39) T391S probably benign Het
Palm3 A G 8: 84,755,432 (GRCm39) R315G probably benign Het
Patj C T 4: 98,575,675 (GRCm39) R1177W probably damaging Het
Pbld2 G A 10: 62,910,903 (GRCm39) probably null Het
Phldb1 A T 9: 44,627,842 (GRCm39) M81K probably damaging Het
Pkn2 A G 3: 142,515,289 (GRCm39) F682L probably damaging Het
Plce1 T C 19: 38,747,392 (GRCm39) probably null Het
Plekha8 T A 6: 54,617,959 (GRCm39) V518E probably damaging Het
Ppp1r3a T A 6: 14,717,981 (GRCm39) M978L probably benign Het
Ppp4r4 T A 12: 103,564,410 (GRCm39) C592S possibly damaging Het
Prdx6b T A 2: 80,123,546 (GRCm39) D118E possibly damaging Het
Ptprg T C 14: 12,199,743 (GRCm38) V52A probably damaging Het
Rab27b A G 18: 70,122,617 (GRCm39) M114T probably damaging Het
Ralgps1 A G 2: 33,230,723 (GRCm39) probably null Het
Rasa3 G A 8: 13,632,372 (GRCm39) P506L probably benign Het
Rps6kb1 G A 11: 86,393,634 (GRCm39) R499* probably null Het
S1pr4 A G 10: 81,335,024 (GRCm39) M150T probably damaging Het
Scube2 T C 7: 109,430,882 (GRCm39) D439G probably damaging Het
Serpina1e T C 12: 103,917,150 (GRCm39) K173R probably benign Het
Serpina3m T A 12: 104,355,774 (GRCm39) I147N probably damaging Het
Sh3rf3 G T 10: 58,922,489 (GRCm39) G522* probably null Het
Smad1 A T 8: 80,070,473 (GRCm39) V355E probably damaging Het
Srsf11 A G 3: 157,725,065 (GRCm39) V211A possibly damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stt3a C T 9: 36,654,711 (GRCm39) probably null Het
Syne2 T C 12: 76,010,557 (GRCm39) V2488A probably benign Het
Tbc1d23 T C 16: 56,993,463 (GRCm39) T568A possibly damaging Het
Tnn A C 1: 159,968,258 (GRCm39) V378G probably damaging Het
Trim50 T C 5: 135,382,355 (GRCm39) V69A possibly damaging Het
Ttll10 A T 4: 156,132,024 (GRCm39) D19E probably damaging Het
Ushbp1 G A 8: 71,841,567 (GRCm39) R421C probably damaging Het
Vmn2r2 T C 3: 64,042,128 (GRCm39) T196A probably benign Het
Wdr64 G A 1: 175,639,585 (GRCm39) S1028N probably damaging Het
Wwtr1 T C 3: 57,369,996 (GRCm39) Y373C probably damaging Het
Zeb1 A T 18: 5,766,298 (GRCm39) K216* probably null Het
Zfp39 T C 11: 58,791,486 (GRCm39) D67G probably damaging Het
Zfp40 A G 17: 23,394,514 (GRCm39) I691T possibly damaging Het
Zfp532 T C 18: 65,758,215 (GRCm39) V716A probably benign Het
Zfp616 T A 11: 73,976,105 (GRCm39) C791* probably null Het
Zfp932 G A 5: 110,144,489 (GRCm39) probably benign 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
IGL02397:Adam12 APN 7 133,511,548 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CATAAATGAGAGTCCTGCAGGG -3'
(R):5'- CTGACTGTGATCCTCCAAGG -3'

Sequencing Primer
(F):5'- CCCAGATGGATGTGTAGTAGC -3'
(R):5'- CCAAGGATGCCCATTCTCTTAG -3'
Posted On 2014-06-23