Incidental Mutation 'R7820:Adam12'
ID 601819
Institutional Source Beutler Lab
Gene Symbol Adam12
Ensembl Gene ENSMUSG00000054555
Gene Name ADAM metallopeptidase domain 12
Synonyms Mltna, ADAM12
MMRRC Submission 045874-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.386) question?
Stock # R7820 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 133484928-133826826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133599917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 99 (V99A)
Ref Sequence ENSEMBL: ENSMUSP00000123161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067680] [ENSMUST00000127524] [ENSMUST00000134504]
AlphaFold Q61824
Predicted Effect probably benign
Transcript: ENSMUST00000067680
AA Change: V130A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
AA Change: V130A

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: ENSMUST00000127524
AA Change: V99A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120094
Gene: ENSMUSG00000054555
AA Change: V99A

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 6 135 4.3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134504
AA Change: V99A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123161
Gene: ENSMUSG00000054555
AA Change: V99A

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 6 135 6.1e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik T A 7: 50,249,371 (GRCm39) I135N probably benign Het
Abca14 A T 7: 119,811,944 (GRCm39) N175I probably benign Het
Ankfn1 G T 11: 89,311,956 (GRCm39) P730T probably damaging Het
Arhgap21 A G 2: 20,867,983 (GRCm39) S847P probably damaging Het
Cacna1i C T 15: 80,256,573 (GRCm39) A989V probably benign Het
Cacnb2 T A 2: 14,965,477 (GRCm39) N152K probably damaging Het
Cemip2 C T 19: 21,784,825 (GRCm39) A436V probably damaging Het
Chd3 A T 11: 69,244,064 (GRCm39) Y1334N probably damaging Het
Cimap1a A C 7: 140,429,176 (GRCm39) T128P probably benign Het
Clca4a A T 3: 144,666,432 (GRCm39) D473E probably damaging Het
Crhr2 A C 6: 55,079,764 (GRCm39) I191S probably damaging Het
Eef1akmt3 T C 10: 126,869,063 (GRCm39) Q137R possibly damaging Het
Eml1 T C 12: 108,481,433 (GRCm39) I432T possibly damaging Het
Fcgbp A G 7: 27,819,784 (GRCm39) T2504A probably benign Het
Hmgxb4 G T 8: 75,727,574 (GRCm39) E186* probably null Het
Ighv16-1 T C 12: 114,032,589 (GRCm39) N71S probably benign Het
Kif2b A G 11: 91,468,100 (GRCm39) V61A probably benign Het
Map1b C T 13: 99,567,685 (GRCm39) G1679R unknown Het
Mast4 G A 13: 102,890,596 (GRCm39) S1086L probably damaging Het
Mcm8 A G 2: 132,682,692 (GRCm39) E724G possibly damaging Het
Mfap5 C A 6: 122,497,880 (GRCm39) D51E probably damaging Het
Mon1a T C 9: 107,778,511 (GRCm39) L245P probably damaging Het
Mtx1 G T 3: 89,121,315 (GRCm39) H106Q probably benign Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Ngp A G 9: 110,249,932 (GRCm39) T77A probably benign Het
Oca2 A T 7: 55,981,713 (GRCm39) I612F probably damaging Het
Or11a4 A T 17: 37,536,786 (GRCm39) M257L probably benign Het
Or4c119 T A 2: 88,986,592 (GRCm39) D309V probably benign Het
Or8b3 A T 9: 38,314,862 (GRCm39) I228F probably damaging Het
Otop3 T A 11: 115,230,414 (GRCm39) V97D probably damaging Het
Ovgp1 A G 3: 105,893,837 (GRCm39) probably benign Het
Pdc T C 1: 150,209,021 (GRCm39) I168T probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plekha7 A T 7: 115,836,715 (GRCm39) F18I probably benign Het
Plppr4 A G 3: 117,115,598 (GRCm39) I753T possibly damaging Het
Pms2 T G 5: 143,851,451 (GRCm39) S123A possibly damaging Het
Pou4f2 T A 8: 79,163,131 (GRCm39) probably benign Het
Ptch1 A T 13: 63,670,875 (GRCm39) L885Q probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rgs11 T A 17: 26,424,169 (GRCm39) probably null Het
Samd3 T A 10: 26,109,416 (GRCm39) probably null Het
Slit3 A G 11: 35,591,235 (GRCm39) D1349G probably benign Het
Sorbs2 A T 8: 46,249,593 (GRCm39) Q868L probably null Het
Speer4f1 T A 5: 17,684,528 (GRCm39) S185R probably damaging Het
Spin2f A G X: 30,905,635 (GRCm39) K28R probably benign Het
Tas2r125 T G 6: 132,886,841 (GRCm39) I76M probably benign Het
Tex15 A T 8: 34,065,090 (GRCm39) I1507F probably damaging Het
Vmn1r215 A T 13: 23,260,715 (GRCm39) I252F probably damaging Het
Vmn1r71 A G 7: 10,482,652 (GRCm39) F12S possibly damaging Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zfp764l1 A T 7: 126,990,608 (GRCm39) W460R possibly 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
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'- TCAGCTGTGTAATTTGCAAGTAGC -3'
(R):5'- GTTGAATGGTAAGGCAGCCTG -3'

Sequencing Primer
(F):5'- TTGCAAGTAGCTATACAGGCCTC -3'
(R):5'- TAAGGCAGCCTGTGTCATAC -3'
Posted On 2019-12-03