Incidental Mutation 'R8851:Adamts7'
ID 675012
Institutional Source Beutler Lab
Gene Symbol Adamts7
Ensembl Gene ENSMUSG00000032363
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 7
Synonyms ADAM-TS7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R8851 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 90041420-90082155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90075163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 965 (N965S)
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
AA Change: N1007S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363
AA Change: N1007S

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
AA Change: N965S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363
AA Change: N965S

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 benign
Transcript: ENSMUST00000147250
AA Change: N965S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363
AA Change: N965S

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
AA Change: N1007S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
AA Change: N1007S

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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, 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,159,683 (GRCm39) I279F probably benign Het
Adgrl3 A G 5: 81,613,119 (GRCm39) Y184C probably damaging Het
Ankar T C 1: 72,691,535 (GRCm39) Y1142C probably damaging Het
Apoa4 A G 9: 46,153,906 (GRCm39) K169R probably benign Het
Cd22 T A 7: 30,577,084 (GRCm39) K74N probably benign Het
Defa39 T A 8: 22,193,555 (GRCm39) I22F possibly damaging Het
Dgcr2 G A 16: 17,690,507 (GRCm39) T41I possibly damaging Het
Dicer1 A G 12: 104,690,300 (GRCm39) V245A possibly damaging Het
Dop1b T A 16: 93,559,398 (GRCm39) S715T probably benign Het
Epb41l1 A T 2: 156,364,431 (GRCm39) H980L probably benign Het
Erc2 A T 14: 28,039,216 (GRCm39) E973V probably null Het
Fam124b T A 1: 80,190,882 (GRCm39) Q167L probably damaging Het
Frmpd2 A G 14: 33,217,643 (GRCm39) E46G probably damaging Het
Gabrb2 G A 11: 42,312,186 (GRCm39) V4I probably benign Het
Gbf1 T A 19: 46,256,922 (GRCm39) N841K probably damaging Het
Gnpat A G 8: 125,601,004 (GRCm39) H161R probably damaging Het
Gpd2 A T 2: 57,197,062 (GRCm39) M206L possibly damaging Het
Grid2ip T C 5: 143,348,352 (GRCm39) F148L possibly damaging Het
Hemk1 A G 9: 107,213,412 (GRCm39) V128A probably benign Het
Ism1 G T 2: 139,591,465 (GRCm39) S273I probably damaging Het
Kcnab3 G T 11: 69,218,990 (GRCm39) probably null Het
Kdm6b A G 11: 69,291,993 (GRCm39) Y1430H unknown Het
Lama2 A G 10: 27,242,119 (GRCm39) V279A possibly damaging Het
Lmf1 G A 17: 25,804,680 (GRCm39) W119* probably null Het
Lrrc42 A G 4: 107,096,375 (GRCm39) V276A probably benign Het
Magi2 T C 5: 20,270,618 (GRCm39) F163L probably damaging Het
Map2k2 A G 10: 80,955,097 (GRCm39) K196R probably damaging Het
Mfsd11 C A 11: 116,752,479 (GRCm39) D209E probably benign Het
Muc1 C A 3: 89,138,425 (GRCm39) F422L probably benign Het
Muc13 A G 16: 33,631,273 (GRCm39) H391R probably benign Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Nfatc2ip T C 7: 125,986,617 (GRCm39) Q346R probably damaging Het
Or8g2b A G 9: 39,751,600 (GRCm39) Y290C probably damaging Het
Otol1 T A 3: 69,935,299 (GRCm39) D430E probably damaging Het
Pcdh1 T C 18: 38,325,155 (GRCm39) E929G probably damaging Het
Pip4p2 T C 4: 14,912,491 (GRCm39) M200T possibly damaging Het
Plekhf1 C T 7: 37,921,466 (GRCm39) R34H probably damaging Het
Plekhm2 A T 4: 141,358,639 (GRCm39) V622E probably benign Het
Pomt2 G A 12: 87,184,838 (GRCm39) T196I probably damaging Het
Ppp1r12c C T 7: 4,487,703 (GRCm39) G436D probably damaging Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Slc29a1 A G 17: 45,900,402 (GRCm39) I176T probably damaging Het
Slc5a9 A T 4: 111,755,790 (GRCm39) V36E probably damaging Het
Slc7a1 A C 5: 148,285,093 (GRCm39) S133R probably damaging Het
Sox17 A G 1: 4,562,073 (GRCm39) Y376H probably benign Het
Spata4 T C 8: 55,062,935 (GRCm39) I280T probably benign Het
Svop T A 5: 114,192,557 (GRCm39) I187F probably damaging Het
Tas2r103 T A 6: 133,013,896 (GRCm39) I57F Het
Tead3 A G 17: 28,551,704 (GRCm39) V463A probably damaging Het
Tenm4 G C 7: 96,501,710 (GRCm39) G1305R probably damaging Het
Top2a A T 11: 98,900,677 (GRCm39) F594L probably damaging Het
Trim23 A G 13: 104,334,573 (GRCm39) T419A possibly damaging Het
Ttn T C 2: 76,629,237 (GRCm39) E12621G probably damaging Het
Ttyh2 A G 11: 114,593,090 (GRCm39) I254V probably benign Het
Vmn2r58 T C 7: 41,487,219 (GRCm39) M559V probably benign Het
Wwp1 A T 4: 19,643,437 (GRCm39) H358Q probably null Het
Zcwpw1 A C 5: 137,820,626 (GRCm39) D597A probably damaging Het
Zfp318 A T 17: 46,710,761 (GRCm39) Y828F probably damaging Het
Zfp608 T A 18: 55,032,194 (GRCm39) N582I 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
R9025:Adamts7 UTSW 9 90,067,848 (GRCm39) nonsense probably null
R9038:Adamts7 UTSW 9 90,056,692 (GRCm39) missense
R9101:Adamts7 UTSW 9 90,071,794 (GRCm39) critical splice donor site probably null
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'- ACATGTGGAGCTGGCATTCG -3'
(R):5'- CCCCATTATCAACCAGGTCTG -3'

Sequencing Primer
(F):5'- GCAACGAAGTGTCCTCTGCATC -3'
(R):5'- CTGGATGGGGTTCTTCAAAGGAC -3'
Posted On 2021-07-15