Incidental Mutation 'R9261:Adamts7'
ID 702260
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 068990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R9261 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 90041420-90082155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90075397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1043 (E1043G)
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: E1085G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363
AA Change: E1085G

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 possibly damaging
Transcript: ENSMUST00000113060
AA Change: E1043G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363
AA Change: E1043G

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: E1043G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363
AA Change: E1043G

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: E1085G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
AA Change: E1085G

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: 98.8%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agps T G 2: 75,684,850 (GRCm39) probably benign Het
Ahnak A G 19: 8,993,503 (GRCm39) E4929G possibly damaging Het
Arl6ip4 T A 5: 124,256,146 (GRCm39) probably benign Het
Cdhr17 T C 5: 17,006,547 (GRCm39) L88P possibly damaging Het
Clca3a2 G T 3: 144,525,158 (GRCm39) H25N probably benign Het
Cubn C T 2: 13,283,262 (GRCm39) D3559N probably damaging Het
Dmac2 T A 7: 25,320,345 (GRCm39) W15R probably benign Het
Dzank1 T C 2: 144,355,344 (GRCm39) E117G probably benign Het
Eml2 A G 7: 18,913,743 (GRCm39) T187A probably benign Het
Eml5 A G 12: 98,822,287 (GRCm39) V747A probably damaging Het
Esr1 T A 10: 4,919,271 (GRCm39) S454T probably damaging Het
Evc2 A G 5: 37,537,895 (GRCm39) T528A probably benign Het
Fbxo5 T C 10: 5,752,325 (GRCm39) N96S probably damaging Het
Fcnb T C 2: 27,969,636 (GRCm39) T144A probably damaging Het
Fgf20 T A 8: 40,739,951 (GRCm39) probably benign Het
Gcg T C 2: 62,306,408 (GRCm39) probably benign Het
Gfm2 T A 13: 97,299,369 (GRCm39) Y363* probably null Het
Grwd1 C T 7: 45,475,381 (GRCm39) R387Q probably benign Het
Gstt2 C T 10: 75,669,511 (GRCm39) D59N possibly damaging Het
Herc1 A G 9: 66,412,129 (GRCm39) N4783S probably damaging Het
Hydin C A 8: 110,994,047 (GRCm39) A27E unknown Het
Iigp1c T A 18: 60,353,820 (GRCm39) probably benign Het
Ikbip A G 10: 90,932,249 (GRCm39) T298A possibly damaging Het
Il1rap A G 16: 26,541,724 (GRCm39) N655S possibly damaging Het
Kif21b C T 1: 136,077,162 (GRCm39) R395C probably damaging Het
Kif3a ATTGACG A 11: 53,484,248 (GRCm39) probably benign Het
Klhl40 A G 9: 121,609,002 (GRCm39) D389G probably benign Het
Ly6g A G 15: 75,030,529 (GRCm39) T116A probably damaging Het
Mast2 A G 4: 116,165,900 (GRCm39) L1276P probably damaging Het
Mitf A G 6: 97,990,704 (GRCm39) Q369R possibly damaging Het
Mtus2 T A 5: 148,243,453 (GRCm39) Y192* probably null Het
Nav1 T A 1: 135,388,095 (GRCm39) E1109D unknown Het
Nav2 A G 7: 49,246,904 (GRCm39) E2143G probably damaging Het
Nedd4 A G 9: 72,584,656 (GRCm39) Q119R possibly damaging Het
Nek9 A G 12: 85,359,841 (GRCm39) V537A probably damaging Het
Notum G T 11: 120,550,974 (GRCm39) T64K Het
Nudcd2 A G 11: 40,630,026 (GRCm39) N144S probably damaging Het
Nup205 A G 6: 35,176,792 (GRCm39) E596G probably benign Het
Olfml1 T A 7: 107,167,007 (GRCm39) L12Q possibly damaging Het
Or4f60 T A 2: 111,902,718 (GRCm39) D70V probably damaging Het
Or51k1 C T 7: 103,661,336 (GRCm39) C191Y probably damaging Het
Or52n2c A T 7: 104,574,305 (GRCm39) M222K probably benign Het
Or56b2 T A 7: 104,337,260 (GRCm39) F13I probably benign Het
Or6b13 A G 7: 139,782,563 (GRCm39) V40A probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Padi4 T C 4: 140,479,926 (GRCm39) N409S probably damaging Het
Pam T A 1: 97,903,620 (GRCm39) T38S probably benign Het
Piezo2 T C 18: 63,208,868 (GRCm39) I1382V possibly damaging Het
Pla2g12a A T 3: 129,684,080 (GRCm39) Q153L possibly damaging Het
Pla2g4e T A 2: 120,019,910 (GRCm39) H180L probably benign Het
Pou2af2 T A 9: 51,202,998 (GRCm39) H52L probably benign Het
Pprc1 A G 19: 46,050,868 (GRCm39) T169A unknown Het
Prrc2c A G 1: 162,505,622 (GRCm39) I2592T possibly damaging Het
Ptchd3 T A 11: 121,722,956 (GRCm39) I348N probably damaging Het
Ralgps1 T C 2: 33,226,571 (GRCm39) D40G probably damaging Het
Rbm19 T C 5: 120,256,810 (GRCm39) F41S probably damaging Het
Rbsn T C 6: 92,166,797 (GRCm39) M616V probably benign Het
Ryr1 A T 7: 28,751,813 (GRCm39) M3660K possibly damaging Het
Sidt2 A T 9: 45,861,396 (GRCm39) V246E probably damaging Het
Slc4a4 T C 5: 89,347,568 (GRCm39) W770R probably damaging Het
Spata31d1c T A 13: 65,184,680 (GRCm39) S741T probably damaging Het
Stk19 T G 17: 35,051,432 (GRCm39) Y108S possibly damaging Het
Stox2 T C 8: 47,645,441 (GRCm39) E673G possibly damaging Het
Tax1bp1 T A 6: 52,714,116 (GRCm39) C271S probably benign Het
Tmem161a C A 8: 70,631,572 (GRCm39) R167S probably damaging Het
Tnrc6c T A 11: 117,605,105 (GRCm39) V80E probably damaging Het
Trpa1 G A 1: 14,963,465 (GRCm39) H586Y probably damaging Het
Tsr1 A G 11: 74,799,056 (GRCm39) T746A probably damaging Het
Uqcrfs1 T C 13: 30,724,794 (GRCm39) I249V probably damaging Het
Vmn2r84 C A 10: 130,229,976 (GRCm39) E45D probably benign Het
Vnn3 A G 10: 23,741,607 (GRCm39) E304G probably damaging Het
Zfp541 G A 7: 15,816,029 (GRCm39) V839M possibly damaging Het
Zfp62 A G 11: 49,108,350 (GRCm39) K814E probably benign 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
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
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'- TGAGGAGGAACTAGATCCGC -3'
(R):5'- TATCATCAACTGAAGCAGGGG -3'

Sequencing Primer
(F):5'- AACTAGATCCGCCAGGGC -3'
(R):5'- CAAGCTGGGGAATCCAAGTTC -3'
Posted On 2022-03-25