Incidental Mutation 'R8160:Adam12'
ID 643843
Institutional Source Beutler Lab
Gene Symbol Adam12
Ensembl Gene ENSMUSG00000054555
Gene Name ADAM metallopeptidase domain 12
Synonyms Mltna, ADAM12
MMRRC Submission 067586-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.386) question?
Stock # R8160 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 133484928-133826826 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 133569770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067680]
AlphaFold Q61824
Predicted Effect probably null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 100% (32/32)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh8a1 A G 10: 21,271,690 (GRCm39) D472G possibly damaging Het
Appl1 T C 14: 26,650,592 (GRCm39) I527V probably benign Het
Arhgef4 C A 1: 34,762,655 (GRCm39) T637K unknown Het
Atp7b G A 8: 22,487,575 (GRCm39) A1273V probably damaging Het
Ccl20 T A 1: 83,095,543 (GRCm39) S35T Het
Cdh24 C A 14: 54,875,946 (GRCm39) V208F probably damaging Het
Dchs2 A T 3: 83,178,112 (GRCm39) Q1055L probably benign Het
Dock8 G A 19: 25,124,711 (GRCm39) R1009Q probably damaging Het
Ext2 A T 2: 93,644,107 (GRCm39) V58E probably benign Het
Fam209 A T 2: 172,314,645 (GRCm39) I45F possibly damaging Het
Hfm1 T C 5: 107,043,899 (GRCm39) Y579C probably null Het
Hipk4 C T 7: 27,223,186 (GRCm39) A82V possibly damaging Het
Il17rc A G 6: 113,453,489 (GRCm39) Y223C possibly damaging Het
Itsn1 G A 16: 91,615,446 (GRCm39) R397H unknown Het
Kdm5b T A 1: 134,541,657 (GRCm39) M744K probably damaging Het
Mettl16 T C 11: 74,708,505 (GRCm39) V568A probably damaging Het
Mink1 C T 11: 70,496,907 (GRCm39) Q422* probably null Het
Mvb12b G T 2: 33,730,234 (GRCm39) D81E probably benign Het
Nostrin A T 2: 69,009,810 (GRCm39) I313F probably damaging Het
Nsun6 A G 2: 15,014,219 (GRCm39) probably null Het
Nt5dc1 T A 10: 34,200,392 (GRCm39) E209V possibly damaging Het
Oasl2 T C 5: 115,039,347 (GRCm39) probably benign Het
Or10a49 C T 7: 108,467,995 (GRCm39) R122Q possibly damaging Het
Or6aa1 C T 7: 86,044,473 (GRCm39) V78M possibly damaging Het
Or7e166 T A 9: 19,624,085 (GRCm39) probably benign Het
Ppm1h A T 10: 122,638,341 (GRCm39) T204S probably benign Het
Rad51b T A 12: 79,350,115 (GRCm39) L70I probably benign Het
Smok3c A G 5: 138,063,286 (GRCm39) T258A possibly damaging Het
Snai2 T C 16: 14,524,668 (GRCm39) V58A possibly damaging Het
Spmip7 T C 11: 11,437,734 (GRCm39) S246P unknown Het
St6galnac1 G A 11: 116,666,316 (GRCm39) probably benign Het
Tasor T A 14: 27,171,913 (GRCm39) N420K 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
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
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
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
Posted On 2020-08-28