Incidental Mutation 'R9748:Adamts12'
ID 732353
Institutional Source Beutler Lab
Gene Symbol Adamts12
Ensembl Gene ENSMUSG00000047497
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 12
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R9748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 11064876-11349317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11310628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 962 (V962I)
Ref Sequence ENSEMBL: ENSMUSP00000057796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061318]
AlphaFold Q811B3
Predicted Effect probably damaging
Transcript: ENSMUST00000061318
AA Change: V962I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: V962I

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Pep_M12B_propep 53 197 5.5e-30 PFAM
low complexity region 236 245 N/A INTRINSIC
Pfam:Reprolysin_5 248 438 1.6e-14 PFAM
Pfam:Reprolysin_4 248 453 6.7e-8 PFAM
Pfam:Reprolysin 250 460 1.2e-27 PFAM
Pfam:Reprolysin_2 268 450 5.5e-11 PFAM
Pfam:Reprolysin_3 272 407 3.5e-10 PFAM
TSP1 549 601 9.29e-14 SMART
Pfam:ADAM_spacer1 706 817 4.8e-36 PFAM
TSP1 831 887 4.66e-5 SMART
TSP1 890 949 2.54e-1 SMART
TSP1 951 1001 8.95e-7 SMART
low complexity region 1032 1047 N/A INTRINSIC
low complexity region 1130 1141 N/A INTRINSIC
TSP1 1321 1371 2.22e-2 SMART
TSP1 1372 1431 9.97e-2 SMART
TSP1 1432 1479 1.19e-2 SMART
TSP1 1480 1538 2.63e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Mice lacking the encoded protein exhibit increased angiogenic response and tumor invasion in different models of angiogenesis and, severe inflammation and delayed recovery when subjected to experimental conditions that induce colitis, endotoxic sepsis and pancreatitis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,301,068 (GRCm39) T221A probably benign Het
Ano3 T A 2: 110,488,640 (GRCm39) I931F probably damaging Het
Anxa2r2 T A 13: 120,488,200 (GRCm39) E116D possibly damaging Het
Arih1 T G 9: 59,300,581 (GRCm39) D555A possibly damaging Het
Arsg A G 11: 109,381,452 (GRCm39) D65G probably damaging Het
Atp8b3 G A 10: 80,364,407 (GRCm39) T567I probably damaging Het
Camkk2 G C 5: 122,872,182 (GRCm39) R575G probably benign Het
Ccdc168 G T 1: 44,095,824 (GRCm39) S1758Y possibly damaging Het
Ccdc88b G T 19: 6,831,461 (GRCm39) L494M probably damaging Het
Cdc7 A G 5: 107,123,405 (GRCm39) K317E possibly damaging Het
Cfh A G 1: 140,090,687 (GRCm39) probably null Het
Cp T G 3: 20,043,335 (GRCm39) V1041G possibly damaging Het
Cpeb3 A G 19: 37,151,926 (GRCm39) V150A probably benign Het
Cyp7a1 T A 4: 6,269,216 (GRCm39) E352V probably damaging Het
Dnah9 T A 11: 65,976,290 (GRCm39) H1253L possibly damaging Het
Dsg3 T C 18: 20,672,761 (GRCm39) S811P possibly damaging Het
Efcab5 A T 11: 77,007,022 (GRCm39) Y867* probably null Het
Eif2ak1 A G 5: 143,819,031 (GRCm39) T231A probably damaging Het
Eif2ak4 T A 2: 118,247,730 (GRCm39) C256S probably benign Het
Eif5b A G 1: 38,090,241 (GRCm39) N1140S possibly damaging Het
Etnppl A T 3: 130,414,002 (GRCm39) M34L probably benign Het
Fcrl5 T G 3: 87,364,469 (GRCm39) C549W possibly damaging Het
Fhod1 G A 8: 106,058,323 (GRCm39) A811V probably damaging Het
Flcn C T 11: 59,692,980 (GRCm39) S198N probably benign Het
Fndc1 T A 17: 7,991,929 (GRCm39) H589L unknown Het
Gm8108 G T 14: 4,110,527 (GRCm38) probably benign Het
Hcn4 C T 9: 58,730,996 (GRCm39) R68W unknown Het
Igfn1 A G 1: 135,926,336 (GRCm39) L38P possibly damaging Het
Il1r1 A G 1: 40,349,496 (GRCm39) T351A probably benign Het
Ildr2 T C 1: 166,096,889 (GRCm39) L36P probably damaging Het
Itgb1bp1 C T 12: 21,324,876 (GRCm39) C60Y probably damaging Het
Jrk A G 15: 74,579,225 (GRCm39) L20P probably damaging Het
Kif5c C T 2: 49,584,859 (GRCm39) A194V probably damaging Het
Lrp4 C T 2: 91,316,116 (GRCm39) L745F probably damaging Het
Ly9 A T 1: 171,428,722 (GRCm39) D299E possibly damaging Het
Mfsd1 C T 3: 67,499,910 (GRCm39) T185I possibly damaging Het
Mprip A G 11: 59,656,348 (GRCm39) Y808C probably damaging Het
Mrps2 C A 2: 28,359,594 (GRCm39) H150Q possibly damaging Het
Mtcl3 A T 10: 29,024,398 (GRCm39) D438V probably damaging Het
Mturn A T 6: 54,665,989 (GRCm39) probably null Het
Myo5a T C 9: 75,091,965 (GRCm39) S1205P probably damaging Het
Nckap5 G A 1: 125,953,939 (GRCm39) P871L probably damaging Het
Ndst3 T A 3: 123,421,631 (GRCm39) I401F probably benign Het
Nek4 G A 14: 30,709,114 (GRCm39) V723M possibly damaging Het
Nfe2l2 A G 2: 75,506,667 (GRCm39) S478P probably damaging Het
Nol6 T C 4: 41,123,538 (GRCm39) Y70C probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Oas1h A T 5: 121,005,088 (GRCm39) N179Y probably damaging Het
Or1o11 T G 17: 37,756,595 (GRCm39) V61G probably benign Het
Or8b39 T A 9: 37,996,353 (GRCm39) S74T probably benign Het
Otof T C 5: 30,540,998 (GRCm39) D847G probably damaging Het
Pak1 C A 7: 97,547,842 (GRCm39) D331E possibly damaging Het
Pkd1l3 T C 8: 110,373,555 (GRCm39) W1374R probably benign Het
Pkdrej G T 15: 85,704,871 (GRCm39) T355K possibly damaging Het
Pramel27 A G 4: 143,579,892 (GRCm39) *492W probably null Het
Prkcd A T 14: 30,320,800 (GRCm39) F607I possibly damaging Het
Prrc2c A G 1: 162,535,435 (GRCm39) S775P unknown Het
Prss16 G T 13: 22,192,504 (GRCm39) H154N possibly damaging Het
Psme2b T C 11: 48,836,779 (GRCm39) D56G possibly damaging Het
Rapsn C T 2: 90,875,823 (GRCm39) P400L probably damaging Het
Rptn A G 3: 93,304,761 (GRCm39) D698G possibly damaging Het
Rragc T C 4: 123,818,658 (GRCm39) V291A possibly damaging Het
Rras2 A G 7: 113,716,629 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scyl2 A C 10: 89,476,794 (GRCm39) M777R probably benign Het
Serhl G T 15: 82,998,597 (GRCm39) V235L probably benign Het
Sh2b3 T C 5: 121,955,874 (GRCm39) Y536C probably damaging Het
Sh3pxd2a T C 19: 47,257,093 (GRCm39) M570V probably benign Het
Slamf8 C T 1: 172,411,800 (GRCm39) V232M probably benign Het
Slc6a21 T A 7: 44,929,941 (GRCm39) L143Q probably damaging Het
Snx9 T A 17: 5,949,670 (GRCm39) D123E probably benign Het
Spopfm2 G A 3: 94,083,155 (GRCm39) H219Y probably damaging Het
Supt6 C A 11: 78,108,767 (GRCm39) R1178L probably damaging Het
Sycp2 T G 2: 178,025,304 (GRCm39) E379D probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tg A G 15: 66,719,008 (GRCm39) M2655V possibly damaging Het
Tiam2 C T 17: 3,561,440 (GRCm39) T1335I probably benign Het
Tmem154 T A 3: 84,573,693 (GRCm39) L12Q possibly damaging Het
Trpv3 A T 11: 73,174,499 (GRCm39) I289F possibly damaging Het
Tubgcp3 A G 8: 12,699,758 (GRCm39) L365P probably damaging Het
Tulp4 T C 17: 6,291,480 (GRCm39) probably null Het
Tyr A G 7: 87,142,072 (GRCm39) S163P possibly damaging Het
Usp42 A T 5: 143,713,533 (GRCm39) probably null Het
Vmn2r94 A G 17: 18,463,989 (GRCm39) M767T probably benign Het
Wasl A G 6: 24,619,533 (GRCm39) V329A unknown Het
Wdr62 T A 7: 29,953,466 (GRCm39) M635L possibly damaging Het
Wee1 G T 7: 109,721,722 (GRCm39) E56* probably null Het
Zc3h12c C T 9: 52,055,231 (GRCm39) G193S probably damaging Het
Zfp236 T A 18: 82,637,008 (GRCm39) Q1426L possibly damaging Het
Zfp74 T C 7: 29,634,751 (GRCm39) Y319C probably damaging Het
Other mutations in Adamts12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Adamts12 APN 15 11,311,685 (GRCm39) missense probably benign 0.00
IGL00513:Adamts12 APN 15 11,257,047 (GRCm39) missense probably benign 0.28
IGL00579:Adamts12 APN 15 11,152,100 (GRCm39) missense probably benign 0.20
IGL00984:Adamts12 APN 15 11,215,696 (GRCm39) missense probably benign 0.01
IGL01307:Adamts12 APN 15 11,237,632 (GRCm39) missense possibly damaging 0.88
IGL01314:Adamts12 APN 15 11,071,939 (GRCm39) missense probably benign 0.30
IGL01353:Adamts12 APN 15 11,292,091 (GRCm39) splice site probably benign
IGL01373:Adamts12 APN 15 11,310,816 (GRCm39) missense probably benign 0.00
IGL01522:Adamts12 APN 15 11,065,245 (GRCm39) critical splice donor site probably null
IGL01589:Adamts12 APN 15 11,311,323 (GRCm39) missense probably benign 0.26
IGL01715:Adamts12 APN 15 11,258,182 (GRCm39) missense possibly damaging 0.47
IGL01966:Adamts12 APN 15 11,258,269 (GRCm39) missense probably damaging 0.98
IGL01994:Adamts12 APN 15 11,345,680 (GRCm39) missense probably damaging 1.00
IGL02058:Adamts12 APN 15 11,215,696 (GRCm39) missense probably benign 0.01
IGL02216:Adamts12 APN 15 11,241,571 (GRCm39) missense possibly damaging 0.63
IGL02252:Adamts12 APN 15 11,311,101 (GRCm39) missense probably benign 0.01
IGL02336:Adamts12 APN 15 11,311,331 (GRCm39) missense probably benign 0.02
IGL02445:Adamts12 APN 15 11,286,798 (GRCm39) missense probably damaging 1.00
IGL03115:Adamts12 APN 15 11,263,422 (GRCm39) missense probably damaging 1.00
IGL03131:Adamts12 APN 15 11,345,650 (GRCm39) missense probably damaging 1.00
IGL03161:Adamts12 APN 15 11,292,168 (GRCm39) missense possibly damaging 0.93
IGL03403:Adamts12 APN 15 11,241,574 (GRCm39) missense probably damaging 1.00
I2289:Adamts12 UTSW 15 11,071,894 (GRCm39) missense probably benign 0.13
PIT4677001:Adamts12 UTSW 15 11,286,896 (GRCm39) missense probably benign 0.33
R0016:Adamts12 UTSW 15 11,217,915 (GRCm39) missense probably damaging 1.00
R0016:Adamts12 UTSW 15 11,217,915 (GRCm39) missense probably damaging 1.00
R0027:Adamts12 UTSW 15 11,285,959 (GRCm39) missense probably damaging 0.99
R0027:Adamts12 UTSW 15 11,285,959 (GRCm39) missense probably damaging 0.99
R0028:Adamts12 UTSW 15 11,215,710 (GRCm39) missense probably damaging 1.00
R0108:Adamts12 UTSW 15 11,311,184 (GRCm39) missense probably benign 0.08
R0108:Adamts12 UTSW 15 11,311,184 (GRCm39) missense probably benign 0.08
R0122:Adamts12 UTSW 15 11,215,710 (GRCm39) missense probably damaging 1.00
R0196:Adamts12 UTSW 15 11,071,594 (GRCm39) missense probably benign 0.11
R0308:Adamts12 UTSW 15 11,311,646 (GRCm39) missense probably damaging 0.98
R0335:Adamts12 UTSW 15 11,311,144 (GRCm39) missense possibly damaging 0.95
R0667:Adamts12 UTSW 15 11,215,710 (GRCm39) missense probably damaging 1.00
R0729:Adamts12 UTSW 15 11,255,769 (GRCm39) missense possibly damaging 0.91
R1162:Adamts12 UTSW 15 11,277,544 (GRCm39) critical splice donor site probably null
R1173:Adamts12 UTSW 15 11,071,843 (GRCm39) missense probably benign
R1174:Adamts12 UTSW 15 11,071,843 (GRCm39) missense probably benign
R1319:Adamts12 UTSW 15 11,286,877 (GRCm39) missense probably benign 0.02
R1344:Adamts12 UTSW 15 11,286,890 (GRCm39) missense probably damaging 1.00
R1367:Adamts12 UTSW 15 11,256,980 (GRCm39) splice site probably benign
R1396:Adamts12 UTSW 15 11,311,558 (GRCm39) missense probably benign 0.01
R1418:Adamts12 UTSW 15 11,286,890 (GRCm39) missense probably damaging 1.00
R1447:Adamts12 UTSW 15 11,263,447 (GRCm39) missense probably benign 0.42
R1466:Adamts12 UTSW 15 11,311,445 (GRCm39) missense probably benign
R1466:Adamts12 UTSW 15 11,311,445 (GRCm39) missense probably benign
R1599:Adamts12 UTSW 15 11,071,797 (GRCm39) missense probably damaging 0.99
R1700:Adamts12 UTSW 15 11,152,143 (GRCm39) missense probably benign 0.00
R1748:Adamts12 UTSW 15 11,241,548 (GRCm39) missense probably damaging 0.99
R1826:Adamts12 UTSW 15 11,071,606 (GRCm39) missense probably benign 0.06
R1870:Adamts12 UTSW 15 11,311,240 (GRCm39) missense probably benign 0.06
R1871:Adamts12 UTSW 15 11,311,240 (GRCm39) missense probably benign 0.06
R1872:Adamts12 UTSW 15 11,217,966 (GRCm39) nonsense probably null
R1931:Adamts12 UTSW 15 11,270,685 (GRCm39) missense probably benign 0.00
R2041:Adamts12 UTSW 15 11,215,821 (GRCm39) missense probably damaging 1.00
R2119:Adamts12 UTSW 15 11,310,665 (GRCm39) missense probably damaging 1.00
R2120:Adamts12 UTSW 15 11,310,665 (GRCm39) missense probably damaging 1.00
R2122:Adamts12 UTSW 15 11,310,665 (GRCm39) missense probably damaging 1.00
R2161:Adamts12 UTSW 15 11,215,821 (GRCm39) missense probably damaging 0.99
R2655:Adamts12 UTSW 15 11,065,174 (GRCm39) missense possibly damaging 0.50
R4010:Adamts12 UTSW 15 11,286,169 (GRCm39) missense possibly damaging 0.69
R4208:Adamts12 UTSW 15 11,071,840 (GRCm39) missense probably benign
R4666:Adamts12 UTSW 15 11,311,578 (GRCm39) missense probably benign 0.08
R4731:Adamts12 UTSW 15 11,270,748 (GRCm39) missense probably damaging 1.00
R4732:Adamts12 UTSW 15 11,270,748 (GRCm39) missense probably damaging 1.00
R4733:Adamts12 UTSW 15 11,270,748 (GRCm39) missense probably damaging 1.00
R4766:Adamts12 UTSW 15 11,285,987 (GRCm39) missense probably benign 0.03
R4877:Adamts12 UTSW 15 11,327,787 (GRCm39) missense probably damaging 1.00
R4929:Adamts12 UTSW 15 11,259,108 (GRCm39) missense probably damaging 0.96
R5060:Adamts12 UTSW 15 11,300,054 (GRCm39) missense probably damaging 1.00
R5145:Adamts12 UTSW 15 11,285,962 (GRCm39) missense probably damaging 1.00
R5191:Adamts12 UTSW 15 11,327,843 (GRCm39) missense probably benign 0.18
R5492:Adamts12 UTSW 15 11,336,384 (GRCm39) missense probably benign 0.05
R5580:Adamts12 UTSW 15 11,152,086 (GRCm39) missense probably benign 0.14
R5645:Adamts12 UTSW 15 11,277,506 (GRCm39) missense possibly damaging 0.92
R5724:Adamts12 UTSW 15 11,286,836 (GRCm39) missense probably benign 0.15
R6240:Adamts12 UTSW 15 11,286,044 (GRCm39) missense probably benign 0.44
R6331:Adamts12 UTSW 15 11,241,519 (GRCm39) missense probably damaging 1.00
R6381:Adamts12 UTSW 15 11,257,080 (GRCm39) missense possibly damaging 0.93
R6393:Adamts12 UTSW 15 11,255,721 (GRCm39) missense probably damaging 0.97
R6419:Adamts12 UTSW 15 11,215,759 (GRCm39) missense possibly damaging 0.72
R6571:Adamts12 UTSW 15 11,065,187 (GRCm39) missense probably benign 0.00
R6821:Adamts12 UTSW 15 11,152,134 (GRCm39) missense probably benign 0.14
R6913:Adamts12 UTSW 15 11,215,778 (GRCm39) missense probably damaging 1.00
R6973:Adamts12 UTSW 15 11,331,866 (GRCm39) nonsense probably null
R7188:Adamts12 UTSW 15 11,336,411 (GRCm39) nonsense probably null
R7290:Adamts12 UTSW 15 11,277,452 (GRCm39) missense probably benign 0.08
R7307:Adamts12 UTSW 15 11,217,899 (GRCm39) missense probably damaging 1.00
R7376:Adamts12 UTSW 15 11,277,425 (GRCm39) missense possibly damaging 0.69
R7419:Adamts12 UTSW 15 11,317,365 (GRCm39) missense probably benign 0.00
R7484:Adamts12 UTSW 15 11,345,734 (GRCm39) missense probably benign 0.25
R7562:Adamts12 UTSW 15 11,270,697 (GRCm39) missense probably benign 0.01
R7653:Adamts12 UTSW 15 11,257,115 (GRCm39) missense probably benign 0.28
R7696:Adamts12 UTSW 15 11,258,224 (GRCm39) missense probably damaging 1.00
R7957:Adamts12 UTSW 15 11,317,298 (GRCm39) missense possibly damaging 0.96
R7980:Adamts12 UTSW 15 11,263,423 (GRCm39) missense probably damaging 1.00
R7992:Adamts12 UTSW 15 11,310,904 (GRCm39) missense probably benign
R8032:Adamts12 UTSW 15 11,259,189 (GRCm39) critical splice donor site probably null
R8109:Adamts12 UTSW 15 11,331,877 (GRCm39) missense probably benign 0.02
R8402:Adamts12 UTSW 15 11,263,376 (GRCm39) missense probably damaging 0.96
R8751:Adamts12 UTSW 15 11,215,813 (GRCm39) missense probably damaging 1.00
R8782:Adamts12 UTSW 15 11,237,678 (GRCm39) missense probably damaging 1.00
R8934:Adamts12 UTSW 15 11,300,015 (GRCm39) missense probably damaging 0.99
R8952:Adamts12 UTSW 15 11,286,065 (GRCm39) missense probably damaging 1.00
R8963:Adamts12 UTSW 15 11,317,443 (GRCm39) critical splice donor site probably null
R9042:Adamts12 UTSW 15 11,152,134 (GRCm39) missense probably benign 0.08
R9162:Adamts12 UTSW 15 11,311,721 (GRCm39) missense probably benign 0.29
R9190:Adamts12 UTSW 15 11,336,446 (GRCm39) missense probably benign 0.02
R9700:Adamts12 UTSW 15 11,311,442 (GRCm39) missense probably benign 0.04
V1662:Adamts12 UTSW 15 11,071,894 (GRCm39) missense probably benign 0.13
X0022:Adamts12 UTSW 15 11,277,534 (GRCm39) missense probably benign 0.30
Z1176:Adamts12 UTSW 15 11,336,469 (GRCm39) missense not run
Z1177:Adamts12 UTSW 15 11,336,469 (GRCm39) missense not run
Z1177:Adamts12 UTSW 15 11,317,410 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCCTTCGGTTTGACTGTATC -3'
(R):5'- TGTGCTCATAGACTCAGGCAC -3'

Sequencing Primer
(F):5'- CCTTCGGTTTGACTGTATCTTGGG -3'
(R):5'- GTCGATTGATTTTTCCCACTGG -3'
Posted On 2022-11-14