Incidental Mutation 'R4877:Adamts12'
ID 375014
Institutional Source Beutler Lab
Gene Symbol Adamts12
Ensembl Gene ENSMUSG00000047497
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 12
Synonyms
MMRRC Submission 042486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R4877 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 11064876-11349317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 11327787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 1388 (G1388V)
Ref Sequence ENSEMBL: ENSMUSP00000057796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061318]
AlphaFold Q811B3
Predicted Effect probably damaging
Transcript: ENSMUST00000061318
AA Change: G1388V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: G1388V

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
Meta Mutation Damage Score 0.9409 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 100% (76/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,258,421 (GRCm39) Y475H probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Arhgap26 T C 18: 39,429,982 (GRCm39) probably null Het
Atp7b T A 8: 22,518,617 (GRCm39) I74F probably damaging Het
Bod1l A G 5: 41,977,337 (GRCm39) Y1326H probably benign Het
Card11 T C 5: 140,871,632 (GRCm39) S690G probably damaging Het
Cbx3 A G 6: 51,459,540 (GRCm39) E169G possibly damaging Het
Cd28 A T 1: 60,808,861 (GRCm39) M192L possibly damaging Het
Chd6 T C 2: 160,871,219 (GRCm39) probably benign Het
Cyp2c69 C T 19: 39,866,056 (GRCm39) C179Y probably damaging Het
Cyp7b1 A T 3: 18,151,457 (GRCm39) V252E probably damaging Het
Dcp2 G T 18: 44,550,659 (GRCm39) G378C probably benign Het
Dip2b A T 15: 100,058,410 (GRCm39) I196L possibly damaging Het
Erbin G A 13: 103,987,346 (GRCm39) P405S probably damaging Het
Etv1 A G 12: 38,881,292 (GRCm39) probably null Het
F830104G03Rik T G 3: 56,797,917 (GRCm39) K33T unknown Het
Fbln2 C A 6: 91,210,477 (GRCm39) H140Q probably damaging Het
Fxr1 A G 3: 34,101,847 (GRCm39) T109A probably damaging Het
Gm10110 T C 14: 90,134,785 (GRCm39) noncoding transcript Het
Gm9949 C T 18: 62,317,140 (GRCm39) probably benign Het
Grin2d A G 7: 45,504,039 (GRCm39) L604P probably damaging Het
Gstcd A T 3: 132,711,314 (GRCm39) probably benign Het
Ifna16 A G 4: 88,594,681 (GRCm39) V138A probably benign Het
Itpr2 T A 6: 146,226,703 (GRCm39) N1314I probably damaging Het
Kitl T C 10: 99,916,728 (GRCm39) V177A probably damaging Het
L3mbtl1 A T 2: 162,790,488 (GRCm39) Q185L probably damaging Het
Lhx9 T A 1: 138,766,092 (GRCm39) N232I probably benign Het
Lnx1 T C 5: 74,788,784 (GRCm39) R111G probably benign Het
Lrrc41 A G 4: 115,936,602 (GRCm39) I72M probably damaging Het
Lrriq1 T A 10: 103,069,899 (GRCm39) D39V possibly damaging Het
Lyrm7 A G 11: 54,731,936 (GRCm39) probably benign Het
Lyst T A 13: 13,857,734 (GRCm39) Y2508N probably damaging Het
Masp2 A T 4: 148,687,328 (GRCm39) Y70F probably benign Het
Mc4r T C 18: 66,992,409 (GRCm39) I235V probably benign Het
Med12l G A 3: 59,152,214 (GRCm39) V1000M probably damaging Het
Morc2b T C 17: 33,357,712 (GRCm39) H20R probably benign Het
Ms4a1 A T 19: 11,231,857 (GRCm39) S173T probably damaging Het
Myh13 A C 11: 67,228,477 (GRCm39) D339A probably damaging Het
Nars1 A T 18: 64,633,643 (GRCm39) Y542* probably null Het
Nectin2 G A 7: 19,451,645 (GRCm39) T463I possibly damaging Het
Nrg4 A G 9: 55,166,679 (GRCm39) F64L probably benign Het
Nrxn1 T A 17: 91,395,605 (GRCm39) I184F probably benign Het
Nxph2 C T 2: 23,289,846 (GRCm39) P66L probably benign Het
Or10ag2 C T 2: 87,248,907 (GRCm39) Q170* probably null Het
Or2v1 C A 11: 49,025,608 (GRCm39) F196L probably damaging Het
Pard3 A T 8: 128,115,018 (GRCm39) T579S probably damaging Het
Patj A G 4: 98,457,295 (GRCm39) I48V possibly damaging Het
Paxbp1 T C 16: 90,841,199 (GRCm39) probably benign Het
Pou2f3 A T 9: 43,050,618 (GRCm39) N235K possibly damaging Het
Ppp2r2c A G 5: 37,026,214 (GRCm39) D17G probably damaging Het
Rgs8 A G 1: 153,568,633 (GRCm39) probably benign Het
Rnd3 A G 2: 51,038,762 (GRCm39) V42A probably damaging Het
Rp1l1 A G 14: 64,263,620 (GRCm39) R247G probably benign Het
Sec31b A T 19: 44,524,172 (GRCm39) V156D probably damaging Het
Slc22a2 T A 17: 12,833,702 (GRCm39) Y461N possibly damaging Het
Spag6l T C 16: 16,599,622 (GRCm39) K280R possibly damaging Het
Spata31d1a A G 13: 59,850,337 (GRCm39) L597P probably damaging Het
Srr G T 11: 74,798,606 (GRCm39) probably benign Het
Sry C G Y: 2,662,864 (GRCm39) Q265H unknown Het
Tgif1 A C 17: 71,156,700 (GRCm39) probably null Het
Tle3 A T 9: 61,280,781 (GRCm39) probably benign Het
Tubgcp4 A G 2: 121,020,343 (GRCm39) T439A probably benign Het
Twist1 C T 12: 34,008,350 (GRCm39) T125M probably damaging Het
Unc13a T A 8: 72,111,260 (GRCm39) D317V possibly damaging Het
Vmn1r227 T A 17: 20,955,407 (GRCm39) noncoding transcript Het
Vps72 G T 3: 95,025,498 (GRCm39) probably benign Het
Zfp184 T C 13: 22,144,498 (GRCm39) S735P possibly damaging Het
Zfp42 A T 8: 43,748,725 (GRCm39) C259S possibly damaging Het
Zmiz2 A G 11: 6,353,251 (GRCm39) H678R 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
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
R9748:Adamts12 UTSW 15 11,310,628 (GRCm39) missense probably damaging 0.99
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'- TCCCAAACTAGGAGGTCTGTTTATATG -3'
(R):5'- ACTCAGTCTCCGAGATGCTG -3'

Sequencing Primer
(F):5'- GATTGCCTCTCCGTAAATATGAAGG -3'
(R):5'- AGTCTCCGAGATGCTGCATGTC -3'
Posted On 2016-03-17