Incidental Mutation 'R0122:Adamts7'
ID 21103
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 038407-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R0122 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 90041420-90082155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90061474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 360 (E360G)
Ref Sequence ENSEMBL: ENSMUSP00000129292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113059] [ENSMUST00000113060] [ENSMUST00000134996] [ENSMUST00000147250] [ENSMUST00000167122]
AlphaFold Q68SA9
Predicted Effect probably damaging
Transcript: ENSMUST00000113059
AA Change: E360G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363
AA Change: E360G

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 damaging
Transcript: ENSMUST00000113060
AA Change: E360G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363
AA Change: E360G

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 damaging
Transcript: ENSMUST00000134996
AA Change: E360G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119744
Gene: ENSMUSG00000032363
AA Change: E360G

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 damaging
Transcript: ENSMUST00000147250
AA Change: E360G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363
AA Change: E360G

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 damaging
Transcript: ENSMUST00000167122
AA Change: E360G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
AA Change: E360G

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
Meta Mutation Damage Score 0.7500 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (78/79)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
Adam12 T A 7: 133,614,077 (GRCm39) I60F probably benign Het
Adamts10 A G 17: 33,747,454 (GRCm39) probably benign Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Atn1 A T 6: 124,720,197 (GRCm39) probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Baz2b G T 2: 59,743,963 (GRCm39) probably null Het
Bloc1s6 G C 2: 122,587,963 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
C1qa T A 4: 136,625,142 (GRCm39) T3S probably benign Het
Cacna1e A T 1: 154,319,647 (GRCm39) F1351Y probably damaging Het
Car9 C T 4: 43,512,206 (GRCm39) A356V probably benign Het
Ccdc116 T A 16: 16,960,598 (GRCm39) D73V probably damaging Het
Ces2g T C 8: 105,694,932 (GRCm39) Y518H probably damaging Het
Ciz1 A G 2: 32,261,431 (GRCm39) probably benign Het
Cmc1 A T 9: 117,894,388 (GRCm39) C29S probably damaging Het
Coil T A 11: 88,875,833 (GRCm39) probably benign Het
Col3a1 C T 1: 45,380,057 (GRCm39) probably benign Het
Cox15 A G 19: 43,737,229 (GRCm39) I135T possibly damaging Het
Cyld T C 8: 89,468,920 (GRCm39) S564P probably damaging Het
Dnah5 T A 15: 28,378,509 (GRCm39) N2948K probably damaging Het
Dnah7a G A 1: 53,436,301 (GRCm39) R4014W probably damaging Het
Dnmt3b T C 2: 153,518,618 (GRCm39) Y594H probably damaging Het
Dntt A G 19: 41,041,477 (GRCm39) K387R possibly damaging Het
Efcab7 G A 4: 99,749,560 (GRCm39) probably benign Het
Flvcr1 G T 1: 190,753,423 (GRCm39) P250T possibly damaging Het
Gga2 C A 7: 121,590,797 (GRCm39) V504L probably damaging Het
Gm12239 T A 11: 55,906,738 (GRCm39) noncoding transcript Het
Gm6327 T C 16: 12,578,890 (GRCm39) noncoding transcript Het
Krt26 G T 11: 99,224,545 (GRCm39) Y324* probably null Het
Lamb2 A T 9: 108,363,713 (GRCm39) H939L probably benign Het
Lipo3 C T 19: 33,600,086 (GRCm39) probably benign Het
Mmp1b G A 9: 7,386,689 (GRCm39) T145M probably damaging Het
Mrps27 G T 13: 99,501,736 (GRCm39) V76L probably benign Het
Mup6 T A 4: 60,003,995 (GRCm39) Y29* probably null Het
Nlrc3 T C 16: 3,776,822 (GRCm39) K756E probably damaging Het
Nnt T C 13: 119,505,133 (GRCm39) H527R probably damaging Het
Nudt8 T C 19: 4,051,306 (GRCm39) V59A probably benign Het
Ofcc1 A T 13: 40,434,032 (GRCm39) probably null Het
Or10d1 A T 9: 39,484,020 (GRCm39) D178E probably damaging Het
Or2a25 T C 6: 42,888,889 (GRCm39) V144A probably benign Het
Or51q1c T C 7: 103,652,565 (GRCm39) W28R probably damaging Het
Pdgfd T C 9: 6,293,851 (GRCm39) S142P probably damaging Het
Pias4 G T 10: 80,992,921 (GRCm39) Q22K probably damaging Het
Pin1 T C 9: 20,573,600 (GRCm39) I95T probably benign Het
Pramel23 A T 4: 143,424,974 (GRCm39) D156E probably benign Het
Prickle2 G A 6: 92,388,326 (GRCm39) Q359* probably null Het
Qrich2 G T 11: 116,337,639 (GRCm39) Q1950K possibly damaging Het
Rab10 C A 12: 3,359,357 (GRCm39) G21V probably damaging Het
Rbm27 T A 18: 42,447,033 (GRCm39) probably benign Het
Samd4 C A 14: 47,254,017 (GRCm39) S160R probably benign Het
Scube3 A C 17: 28,385,502 (GRCm39) probably benign Het
Serpinf2 A G 11: 75,327,372 (GRCm39) L185P probably damaging Het
Slc16a12 A G 19: 34,652,264 (GRCm39) I294T probably benign Het
Slc45a3 T A 1: 131,905,478 (GRCm39) M167K probably damaging Het
Sspo T A 6: 48,450,910 (GRCm39) L2673Q possibly damaging Het
Supt3 A G 17: 45,314,028 (GRCm39) D139G probably damaging Het
Tas1r3 T C 4: 155,945,290 (GRCm39) M644V probably benign Het
Tgfbi A G 13: 56,775,781 (GRCm39) T276A probably damaging Het
Tmem177 T C 1: 119,838,308 (GRCm39) I124V probably benign Het
Tmprss11f G T 5: 86,681,484 (GRCm39) probably benign Het
Tmprss3 G A 17: 31,412,876 (GRCm39) probably benign Het
Twf1 A G 15: 94,484,430 (GRCm39) probably benign Het
Uba52 T A 8: 70,961,951 (GRCm39) Q166L probably damaging Het
Ubr3 G T 2: 69,809,756 (GRCm39) G1242V probably damaging Het
Unc13d C T 11: 115,956,308 (GRCm39) S835N probably benign Het
Ush2a A G 1: 188,680,652 (GRCm39) K4877E possibly damaging Het
Vmn2r98 A G 17: 19,286,662 (GRCm39) I387V probably benign Het
Vps11 A T 9: 44,265,809 (GRCm39) I490N probably damaging Het
Vstm4 T A 14: 32,585,768 (GRCm39) probably null Het
Zfp110 C A 7: 12,582,524 (GRCm39) H391N possibly damaging Het
Zfp212 C T 6: 47,907,957 (GRCm39) P312L possibly damaging Het
Zfp329 A T 7: 12,544,914 (GRCm39) H203Q probably damaging Het
Zscan12 G A 13: 21,553,139 (GRCm39) G321E probably 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
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
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'- GAGGAGAAATGACACCCTAGCTGC -3'
(R):5'- TCTTGCTGAGGAACTGAGACAATGC -3'

Sequencing Primer
(F):5'- CCTAGCTGCCCGGTCTG -3'
(R):5'- GTGGTTGGAACTGTAACCCC -3'
Posted On 2013-04-11