Incidental Mutation 'R9101:Adamts7'
ID 691693
Institutional Source Beutler Lab
Gene Symbol Adamts7
Ensembl Gene ENSMUSG00000032363
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 7
Synonyms ADAM-TS7
MMRRC Submission 068915-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R9101 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 90041420-90082155 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 90071794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113059] [ENSMUST00000113060] [ENSMUST00000134996] [ENSMUST00000147250] [ENSMUST00000167122]
AlphaFold Q68SA9
Predicted Effect probably benign
Transcript: ENSMUST00000113059
SMART Domains Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Pep_M12B_propep 34 174 1.1e-36 PFAM
low complexity region 203 220 N/A INTRINSIC
Pfam:Reprolysin_5 224 411 1.3e-16 PFAM
Pfam:Reprolysin_4 224 425 8.5e-9 PFAM
Pfam:Reprolysin 226 437 2.2e-27 PFAM
Pfam:Reprolysin_2 244 427 2.9e-12 PFAM
Pfam:Reprolysin_3 248 383 5.2e-13 PFAM
Blast:ACR 442 513 5e-15 BLAST
TSP1 526 578 4.9e-13 SMART
Pfam:ADAM_spacer1 683 794 2.2e-36 PFAM
TSP1 807 863 1.45e-6 SMART
TSP1 866 908 2.41e-1 SMART
TSP1 929 978 1.45e-6 SMART
low complexity region 1011 1025 N/A INTRINSIC
low complexity region 1211 1233 N/A INTRINSIC
TSP1 1385 1435 2.4e-2 SMART
TSP1 1436 1493 1.8e-2 SMART
TSP1 1495 1542 4.82e-2 SMART
TSP1 1543 1600 1.39e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113060
SMART Domains Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Pep_M12B_propep 33 174 3.4e-28 PFAM
low complexity region 203 220 N/A INTRINSIC
Pfam:Reprolysin_5 224 411 1.6e-16 PFAM
Pfam:Reprolysin_4 224 425 8.2e-9 PFAM
Pfam:Reprolysin 226 437 6.4e-30 PFAM
Pfam:Reprolysin_2 244 427 4.6e-12 PFAM
Pfam:Reprolysin_3 248 383 8.1e-13 PFAM
Blast:ACR 442 513 5e-15 BLAST
TSP1 526 578 4.9e-13 SMART
Pfam:ADAM_spacer1 683 794 1.5e-36 PFAM
TSP1 807 863 1.45e-6 SMART
TSP1 866 908 2.41e-1 SMART
low complexity region 969 983 N/A INTRINSIC
low complexity region 1169 1191 N/A INTRINSIC
TSP1 1343 1393 2.4e-2 SMART
TSP1 1394 1451 1.8e-2 SMART
TSP1 1453 1500 4.82e-2 SMART
TSP1 1501 1558 1.39e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134996
SMART Domains Protein: ENSMUSP00000119744
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Pep_M12B_propep 33 174 2.4e-29 PFAM
low complexity region 203 220 N/A INTRINSIC
Pfam:Reprolysin_5 224 412 1e-17 PFAM
Pfam:Reprolysin_4 224 426 5e-10 PFAM
Pfam:Reprolysin 226 437 3.7e-31 PFAM
Pfam:Reprolysin_2 244 427 3.2e-13 PFAM
Pfam:Reprolysin_3 248 383 6.3e-14 PFAM
Blast:ACR 439 505 7e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000147250
SMART Domains Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Pep_M12B_propep 33 174 2.7e-26 PFAM
low complexity region 203 220 N/A INTRINSIC
Pfam:Reprolysin_5 224 411 1.4e-14 PFAM
Pfam:Reprolysin_4 224 425 7e-7 PFAM
Pfam:Reprolysin 226 437 4.9e-28 PFAM
Pfam:Reprolysin_2 244 427 5e-10 PFAM
Pfam:Reprolysin_3 248 383 6.5e-11 PFAM
ACR 439 515 1.7e-5 SMART
TSP1 526 578 2.3e-15 SMART
Pfam:ADAM_spacer1 683 794 3.5e-34 PFAM
TSP1 807 863 6.9e-9 SMART
TSP1 866 908 1.2e-3 SMART
low complexity region 969 983 N/A INTRINSIC
low complexity region 1169 1191 N/A INTRINSIC
TSP1 1284 1334 1.2e-4 SMART
TSP1 1335 1392 8.7e-5 SMART
TSP1 1394 1441 2.3e-4 SMART
TSP1 1442 1499 6.5e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167122
SMART Domains Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Pep_M12B_propep 33 174 1.4e-28 PFAM
low complexity region 203 220 N/A INTRINSIC
Pfam:Reprolysin_5 224 411 7.2e-17 PFAM
Pfam:Reprolysin_4 224 425 3.6e-9 PFAM
Pfam:Reprolysin 226 437 2.9e-30 PFAM
Pfam:Reprolysin_2 244 427 2.2e-12 PFAM
Pfam:Reprolysin_3 248 383 3.7e-13 PFAM
Blast:ACR 442 513 5e-15 BLAST
TSP1 526 578 4.9e-13 SMART
Pfam:ADAM_spacer1 683 794 1.1e-36 PFAM
TSP1 807 863 1.45e-6 SMART
TSP1 866 908 2.41e-1 SMART
TSP1 929 978 1.45e-6 SMART
low complexity region 1011 1025 N/A INTRINSIC
low complexity region 1211 1233 N/A INTRINSIC
TSP1 1385 1435 2.4e-2 SMART
TSP1 1436 1493 1.8e-2 SMART
TSP1 1495 1542 4.82e-2 SMART
TSP1 1543 1600 1.39e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
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, zinc-dependent enzyme that degrades cartilage oligomeric matrix protein. The deficiency of the encoded protein decreases atherosclerosis in genetically hyperlipidemic mice and in response to vascular injury. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for a null allele show increased lung function parameters, reduced endothelial cell migration and proliferation, increased re-endothelialization and ameliorated neointima formation after carotid artery injury, and increased oval cell activation and biliary fibrosis after liver injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T C 12: 113,455,376 (GRCm39) V731A probably benign Het
Afdn T C 17: 14,043,706 (GRCm39) V388A probably damaging Het
Alg3 A G 16: 20,427,599 (GRCm39) Y113H possibly damaging Het
Aox1 C T 1: 58,371,796 (GRCm39) P820L probably benign Het
Avil A G 10: 126,852,873 (GRCm39) D731G probably benign Het
Blvra C T 2: 126,927,890 (GRCm39) L47F probably damaging Het
Bmerb1 T A 16: 13,867,259 (GRCm39) I39N probably damaging Het
Ccdc85c C A 12: 108,240,917 (GRCm39) R159L unknown Het
Clcn2 T C 16: 20,525,979 (GRCm39) D797G probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Dclre1a A T 19: 56,532,738 (GRCm39) F619I possibly damaging Het
Dnajb1 C A 8: 84,335,119 (GRCm39) D53E probably benign Het
Dnmt1 T C 9: 20,852,839 (GRCm39) D89G probably damaging Het
Gck A G 11: 5,856,516 (GRCm39) Y214H probably damaging Het
Gm9507 A G 10: 77,647,650 (GRCm39) S10P unknown Het
Hacd2 G A 16: 34,920,156 (GRCm39) V138I probably benign Het
Hhip A T 8: 80,770,591 (GRCm39) V272D probably damaging Het
Hoga1 A C 19: 42,048,347 (GRCm39) T72P possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Kif21b G A 1: 136,078,893 (GRCm39) G414S probably damaging Het
Klk1b5 T A 7: 43,500,205 (GRCm39) D264E probably benign Het
Lars1 G A 18: 42,376,942 (GRCm39) R205C probably damaging Het
Ly6a A T 15: 74,869,419 (GRCm39) L12Q probably null Het
Mastl A G 2: 23,008,449 (GRCm39) *866Q probably null Het
Mpzl3 T A 9: 44,981,983 (GRCm39) M217K possibly damaging Het
Mroh2b T A 15: 4,929,935 (GRCm39) M7K probably benign Het
Mtarc2 T A 1: 184,554,687 (GRCm39) R273W probably null Het
Nefh A G 11: 4,890,925 (GRCm39) S565P probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nsd1 C T 13: 55,461,359 (GRCm39) L2632F Het
Or10d1 T A 9: 39,483,805 (GRCm39) Y250F probably benign Het
Or1a1b C T 11: 74,097,322 (GRCm39) C240Y probably damaging Het
Or4a71 A T 2: 89,358,721 (GRCm39) I11N possibly damaging Het
Or51ac3 A T 7: 103,213,680 (GRCm39) F269I possibly damaging Het
Or51r1 T C 7: 102,228,137 (GRCm39) V145A probably benign Het
Or5m10b A G 2: 85,694,523 (GRCm39) probably benign Het
Or5w18 T C 2: 87,632,924 (GRCm39) Y60H probably damaging Het
Pcdhga6 T C 18: 37,841,393 (GRCm39) V371A possibly damaging Het
Pdss2 A G 10: 43,269,945 (GRCm39) K263E possibly damaging Het
Phf3 C T 1: 30,843,026 (GRCm39) A1978T possibly damaging Het
Phykpl C A 11: 51,483,741 (GRCm39) T207K probably benign Het
Pkd2 T A 5: 104,628,230 (GRCm39) C435S probably damaging Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Pramel52-ps G A 5: 94,531,899 (GRCm39) C261Y probably damaging Het
Prkra T A 2: 76,478,184 (GRCm39) H6L probably benign Het
Prpf39 A G 12: 65,090,078 (GRCm39) K131E probably damaging Het
Prpf40a A G 2: 53,035,255 (GRCm39) V762A probably benign Het
Prr27 C T 5: 87,991,330 (GRCm39) T314I probably damaging Het
Ptges3 A G 10: 127,907,998 (GRCm39) D116G possibly damaging Het
Rab11fip5 G T 6: 85,317,675 (GRCm39) F1071L probably benign Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
Slc45a3 T C 1: 131,905,175 (GRCm39) V66A possibly damaging Het
Spata31e5 T A 1: 28,815,740 (GRCm39) D764V probably benign Het
Ten1 A G 11: 116,096,562 (GRCm39) Y72C probably damaging Het
Tenm3 A G 8: 48,745,186 (GRCm39) L1125S probably damaging Het
Thpo T A 16: 20,544,557 (GRCm39) I159F possibly damaging Het
Tmppe T C 9: 114,234,309 (GRCm39) S203P probably damaging Het
Ttc23l A T 15: 10,537,661 (GRCm39) I203N probably benign Het
Vars2 A G 17: 35,969,980 (GRCm39) L803P possibly damaging Het
Vmn2r110 T A 17: 20,794,471 (GRCm39) I733F Het
Xxylt1 T C 16: 30,899,745 (GRCm39) N137D possibly damaging Het
Zc3h13 G A 14: 75,561,042 (GRCm39) R544Q unknown Het
Zfhx4 C T 3: 5,477,198 (GRCm39) T3271I probably benign Het
Zfp943 T A 17: 22,212,392 (GRCm39) C493S possibly damaging Het
Other mutations in Adamts7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Adamts7 APN 9 90,076,302 (GRCm39) missense possibly damaging 0.71
IGL00673:Adamts7 APN 9 90,075,714 (GRCm39) missense possibly damaging 0.78
IGL00902:Adamts7 APN 9 90,070,847 (GRCm39) critical splice donor site probably null
IGL01303:Adamts7 APN 9 90,053,787 (GRCm39) missense possibly damaging 0.46
IGL01333:Adamts7 APN 9 90,069,032 (GRCm39) missense probably damaging 1.00
IGL01431:Adamts7 APN 9 90,089,838 (GRCm39) missense possibly damaging 0.89
IGL01595:Adamts7 APN 9 90,075,359 (GRCm39) missense probably benign 0.02
IGL02728:Adamts7 APN 9 90,073,880 (GRCm39) splice site probably benign
IGL02860:Adamts7 APN 9 90,073,915 (GRCm39) missense probably benign
IGL03237:Adamts7 APN 9 90,070,717 (GRCm39) missense probably damaging 1.00
PIT4495001:Adamts7 UTSW 9 90,056,675 (GRCm39) missense probably damaging 1.00
R0044:Adamts7 UTSW 9 90,053,641 (GRCm39) missense possibly damaging 0.58
R0078:Adamts7 UTSW 9 90,061,464 (GRCm39) missense probably damaging 1.00
R0107:Adamts7 UTSW 9 90,062,773 (GRCm39) missense possibly damaging 0.82
R0122:Adamts7 UTSW 9 90,061,474 (GRCm39) missense probably damaging 1.00
R0166:Adamts7 UTSW 9 90,075,745 (GRCm39) missense probably benign 0.00
R0517:Adamts7 UTSW 9 90,081,911 (GRCm39) missense probably benign 0.01
R1442:Adamts7 UTSW 9 90,070,823 (GRCm39) missense probably damaging 0.99
R1468:Adamts7 UTSW 9 90,070,851 (GRCm39) splice site probably benign
R1554:Adamts7 UTSW 9 90,055,703 (GRCm39) missense probably damaging 1.00
R1612:Adamts7 UTSW 9 90,070,750 (GRCm39) missense possibly damaging 0.86
R1652:Adamts7 UTSW 9 90,071,697 (GRCm39) missense probably damaging 1.00
R2007:Adamts7 UTSW 9 90,059,909 (GRCm39) missense probably damaging 1.00
R2091:Adamts7 UTSW 9 90,070,493 (GRCm39) critical splice donor site probably null
R2202:Adamts7 UTSW 9 90,062,729 (GRCm39) missense probably damaging 1.00
R2204:Adamts7 UTSW 9 90,062,729 (GRCm39) missense probably damaging 1.00
R2205:Adamts7 UTSW 9 90,062,729 (GRCm39) missense probably damaging 1.00
R2305:Adamts7 UTSW 9 90,062,764 (GRCm39) missense probably benign 0.39
R2409:Adamts7 UTSW 9 90,062,740 (GRCm39) missense probably damaging 1.00
R4157:Adamts7 UTSW 9 90,070,414 (GRCm39) missense probably damaging 1.00
R4210:Adamts7 UTSW 9 90,076,063 (GRCm39) missense possibly damaging 0.95
R4368:Adamts7 UTSW 9 90,077,904 (GRCm39) critical splice donor site probably null
R4533:Adamts7 UTSW 9 90,062,761 (GRCm39) missense probably damaging 1.00
R4608:Adamts7 UTSW 9 90,056,593 (GRCm39) missense probably damaging 1.00
R4623:Adamts7 UTSW 9 90,068,515 (GRCm39) missense probably benign 0.17
R4661:Adamts7 UTSW 9 90,075,383 (GRCm39) missense probably benign 0.02
R4820:Adamts7 UTSW 9 90,071,739 (GRCm39) missense possibly damaging 0.62
R4942:Adamts7 UTSW 9 90,045,364 (GRCm39) missense probably benign
R4961:Adamts7 UTSW 9 90,067,793 (GRCm39) missense probably damaging 1.00
R5064:Adamts7 UTSW 9 90,077,883 (GRCm39) missense probably damaging 1.00
R5763:Adamts7 UTSW 9 90,070,462 (GRCm39) missense probably damaging 1.00
R5921:Adamts7 UTSW 9 90,070,747 (GRCm39) missense probably benign 0.20
R6027:Adamts7 UTSW 9 90,073,078 (GRCm39) missense probably damaging 1.00
R6182:Adamts7 UTSW 9 90,074,489 (GRCm39) missense probably benign 0.01
R6306:Adamts7 UTSW 9 90,060,331 (GRCm39) critical splice donor site probably null
R6404:Adamts7 UTSW 9 90,062,509 (GRCm39) splice site probably null
R6488:Adamts7 UTSW 9 90,053,535 (GRCm39) missense probably benign 0.00
R6649:Adamts7 UTSW 9 90,073,990 (GRCm39) missense probably damaging 1.00
R6658:Adamts7 UTSW 9 90,077,353 (GRCm39) missense probably damaging 0.99
R6874:Adamts7 UTSW 9 90,070,784 (GRCm39) missense probably damaging 1.00
R6947:Adamts7 UTSW 9 90,073,857 (GRCm39) splice site probably null
R7110:Adamts7 UTSW 9 90,076,017 (GRCm39) missense possibly damaging 0.92
R7224:Adamts7 UTSW 9 90,067,868 (GRCm39) missense probably damaging 1.00
R7239:Adamts7 UTSW 9 90,068,610 (GRCm39) splice site probably null
R7519:Adamts7 UTSW 9 90,079,132 (GRCm39) missense probably benign 0.22
R7608:Adamts7 UTSW 9 90,055,826 (GRCm39) missense possibly damaging 0.68
R7635:Adamts7 UTSW 9 90,077,298 (GRCm39) missense probably damaging 1.00
R7699:Adamts7 UTSW 9 90,070,792 (GRCm39) missense probably damaging 1.00
R8519:Adamts7 UTSW 9 90,075,610 (GRCm39) nonsense probably null
R8680:Adamts7 UTSW 9 90,077,321 (GRCm39) missense probably damaging 1.00
R8743:Adamts7 UTSW 9 90,077,296 (GRCm39) missense probably damaging 0.99
R8784:Adamts7 UTSW 9 90,075,918 (GRCm39) missense probably null 0.00
R8794:Adamts7 UTSW 9 90,076,239 (GRCm39) nonsense probably null
R8851:Adamts7 UTSW 9 90,075,163 (GRCm39) missense probably benign 0.00
R9025:Adamts7 UTSW 9 90,067,848 (GRCm39) nonsense probably null
R9038:Adamts7 UTSW 9 90,056,692 (GRCm39) missense
R9256:Adamts7 UTSW 9 90,060,218 (GRCm39) missense probably damaging 1.00
R9261:Adamts7 UTSW 9 90,075,397 (GRCm39) missense probably benign 0.01
R9385:Adamts7 UTSW 9 90,077,258 (GRCm39) nonsense probably null
R9614:Adamts7 UTSW 9 90,077,251 (GRCm39) missense probably damaging 1.00
X0028:Adamts7 UTSW 9 90,060,270 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- ATGACTGTGATGGGACTGGAC -3'
(R):5'- AGAACAGGTCTCACTTGTGAC -3'

Sequencing Primer
(F):5'- TGAGCCCTGGCACATACTCAG -3'
(R):5'- GTGACAAGGATTTACTGACTGC -3'
Posted On 2021-12-30