Incidental Mutation 'R2202:Adamts7'
ID 238757
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 040204-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R2202 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 90041420-90082155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90062729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 394 (K394N)
Ref Sequence ENSEMBL: ENSMUSP00000129292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113059] [ENSMUST00000113060] [ENSMUST00000134996] [ENSMUST00000147250] [ENSMUST00000167122]
AlphaFold Q68SA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000113059
AA Change: K394N

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363
AA Change: K394N

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: K394N

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363
AA Change: K394N

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 possibly damaging
Transcript: ENSMUST00000134996
AA Change: K394N

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119744
Gene: ENSMUSG00000032363
AA Change: K394N

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 possibly damaging
Transcript: ENSMUST00000147250
AA Change: K394N

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363
AA Change: K394N

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: K394N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
AA Change: K394N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,056,011 (GRCm39) V249A possibly damaging Het
9930111J21Rik2 C G 11: 48,910,149 (GRCm39) L761F probably damaging Het
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Abca14 T C 7: 119,888,764 (GRCm39) Y1237H probably benign Het
Abi3bp C T 16: 56,471,088 (GRCm39) R578* probably null Het
Abi3bp T G 16: 56,433,566 (GRCm39) L550R probably benign Het
Ahdc1 A G 4: 132,793,220 (GRCm39) E1487G possibly damaging Het
AI987944 T C 7: 41,023,950 (GRCm39) E343G probably damaging Het
Ankrd26 T A 6: 118,500,843 (GRCm39) H876L possibly damaging Het
Atg16l1 A C 1: 87,694,737 (GRCm39) Q138P probably benign Het
Atp1b1 G T 1: 164,281,084 (GRCm39) T11K probably benign Het
Calr3 A G 8: 73,188,683 (GRCm39) L40S probably damaging Het
Ccar1 A C 10: 62,581,066 (GRCm39) D1119E unknown Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Cdk12 T G 11: 98,101,464 (GRCm39) S441A unknown Het
Ces4a T A 8: 105,872,746 (GRCm39) V333E probably damaging Het
Cfap61 T C 2: 146,056,600 (GRCm39) L1193P probably damaging Het
Chd2 A T 7: 73,128,416 (GRCm39) D856E probably benign Het
Chil3 T C 3: 106,071,562 (GRCm39) D34G probably benign Het
Cln3 T A 7: 126,178,390 (GRCm39) H211L probably benign Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dcstamp T A 15: 39,617,708 (GRCm39) V39E probably damaging Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Duox1 A G 2: 122,175,194 (GRCm39) T1331A probably benign Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fam184a T A 10: 53,528,530 (GRCm39) Q29L probably damaging Het
Fcer2a T C 8: 3,738,557 (GRCm39) E60G possibly damaging Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Fnbp1l A T 3: 122,340,611 (GRCm39) M463K probably benign Het
Garem2 A G 5: 30,319,762 (GRCm39) D408G probably benign Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Gpc3 T A X: 51,486,083 (GRCm39) I344F probably damaging Het
Gtf2e1 T A 16: 37,331,904 (GRCm39) E390D possibly damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Il15ra T A 2: 11,723,155 (GRCm39) probably null Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Irak1 G A X: 73,060,744 (GRCm39) T193I probably damaging Het
Jmjd1c A G 10: 67,075,242 (GRCm39) probably null Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Letm1 C A 5: 33,926,830 (GRCm39) V156L possibly damaging Het
Lrrc24 G A 15: 76,607,111 (GRCm39) P95L probably damaging Het
Map2k2 T C 10: 80,955,213 (GRCm39) S14P probably damaging Het
Me3 T C 7: 89,499,589 (GRCm39) Y535H probably damaging Het
Nfatc2ip T C 7: 125,990,467 (GRCm39) E178G probably benign Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or10a2 T A 7: 106,673,523 (GRCm39) W163R probably damaging Het
Or2m12 C T 16: 19,105,047 (GRCm39) A149T probably benign Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Pbrm1 A G 14: 30,754,406 (GRCm39) D142G possibly damaging Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pid1 T A 1: 84,016,159 (GRCm39) I69F probably damaging Het
Pkhd1 A G 1: 20,607,584 (GRCm39) S1091P probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Plxnd1 T C 6: 115,939,725 (GRCm39) N1418S probably benign Het
Pmm1 T C 15: 81,840,601 (GRCm39) T82A probably benign Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Ptprz1 C T 6: 23,000,649 (GRCm39) T913M possibly damaging Het
Ralgapa1 T C 12: 55,659,585 (GRCm39) probably null Het
Rbm8a2 T C 1: 175,806,420 (GRCm39) E19G possibly damaging Het
Rgs3 T C 4: 62,608,741 (GRCm39) S336P probably damaging Het
Saxo5 A T 8: 3,529,028 (GRCm39) D201V probably benign Het
Serpina11 G T 12: 103,952,233 (GRCm39) T179K probably damaging Het
Serpina1f T C 12: 103,659,655 (GRCm39) N209S possibly damaging Het
Serpinf2 G A 11: 75,327,588 (GRCm39) T159I probably benign Het
Slc19a1 T C 10: 76,877,758 (GRCm39) C98R possibly damaging Het
Slc22a20 A T 19: 6,021,553 (GRCm39) I483N possibly damaging Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Timd5 A G 11: 46,419,394 (GRCm39) N70S probably benign Het
Tln1 C T 4: 43,553,083 (GRCm39) probably null Het
Tmem39b A C 4: 129,587,716 (GRCm39) S32A probably benign Het
Tmx3 T C 18: 90,546,037 (GRCm39) F206S probably damaging Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Trappc10 A G 10: 78,034,876 (GRCm39) probably null Het
Tssk2 A G 16: 17,716,603 (GRCm39) D2G possibly damaging Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Ube3b G A 5: 114,527,135 (GRCm39) V118M probably damaging Het
Vmn1r23 T C 6: 57,903,604 (GRCm39) D58G probably benign Het
Vmn2r53 T A 7: 12,335,366 (GRCm39) Y98F probably damaging Het
Vmn2r58 T A 7: 41,513,594 (GRCm39) N350Y probably benign Het
Vmn2r82 A T 10: 79,192,519 (GRCm39) H32L probably benign Het
Wsb1 T C 11: 79,131,212 (GRCm39) I395V probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfat T C 15: 68,051,709 (GRCm39) D695G probably benign Het
Zfp358 G T 8: 3,546,995 (GRCm39) V526F possibly damaging Het
Zmat1 A G X: 133,873,861 (GRCm39) L476P 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
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'- AGAAACCCAGGGAATACTGC -3'
(R):5'- CACACTCCTTGGTACTGCAACC -3'

Sequencing Primer
(F):5'- TCAAGGTCATGCAGCCATTG -3'
(R):5'- TGGTACTGCAACCCTCCACG -3'
Posted On 2014-10-02