Incidental Mutation 'R0669:Adamts5'
ID 218866
Institutional Source Beutler Lab
Gene Symbol Adamts5
Ensembl Gene ENSMUSG00000022894
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 5
Synonyms ADAM-TS5, 9530092O11Rik
MMRRC Submission 038854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R0669 (G1)
Quality Score 22
Status Validated
Chromosome 16
Chromosomal Location 85655045-85698013 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85696614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 181 (I181T)
Ref Sequence ENSEMBL: ENSMUSP00000023611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023611]
AlphaFold Q9R001
Predicted Effect probably benign
Transcript: ENSMUST00000023611
AA Change: I181T

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: I181T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 41 182 9.1e-18 PFAM
low complexity region 226 232 N/A INTRINSIC
Pfam:Reprolysin_5 265 450 2.1e-16 PFAM
Pfam:Reprolysin_4 265 472 4.8e-14 PFAM
Pfam:Reprolysin 267 476 4.6e-26 PFAM
Pfam:Reprolysin_2 286 466 3.7e-13 PFAM
Pfam:Reprolysin_3 288 421 6.9e-17 PFAM
Blast:ACR 477 555 4e-15 BLAST
low complexity region 556 566 N/A INTRINSIC
TSP1 570 622 6.04e-13 SMART
Pfam:ADAM_spacer1 732 852 1.7e-35 PFAM
TSP1 878 926 7.12e-2 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 99% (80/81)
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 aggrecanase enzyme. Mice lacking the encoded protein are protected from surgery-induced osteoarthritis and antigen-induced arthritis. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit a significant reduction in cartilage degradation after induction of osteoarthritis whereas those homozygous for another show no affect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,089,671 (GRCm39) H71L possibly damaging Het
Abcb11 C A 2: 69,159,662 (GRCm39) V10L probably benign Het
Abcb9 T C 5: 124,200,950 (GRCm39) T689A probably damaging Het
Adam22 A G 5: 8,193,036 (GRCm39) probably benign Het
Adamts9 A T 6: 92,857,938 (GRCm39) V231D probably damaging Het
Angptl6 C T 9: 20,787,823 (GRCm39) V197M probably damaging Het
Atp6v1c1 T C 15: 38,677,772 (GRCm39) V99A probably benign Het
Cacna2d3 A G 14: 29,189,906 (GRCm39) V110A probably benign Het
Ccdc32 A G 2: 118,849,648 (GRCm39) probably benign Het
Cela3b T C 4: 137,155,841 (GRCm39) H22R probably benign Het
Cep44 T C 8: 56,994,008 (GRCm39) T190A possibly damaging Het
Chsy1 T C 7: 65,821,435 (GRCm39) C557R probably damaging Het
Cntd1 A G 11: 101,178,324 (GRCm39) T308A probably damaging Het
Cutal T C 2: 34,775,878 (GRCm39) probably benign Het
Dipk1b A G 2: 26,524,878 (GRCm39) T93A probably benign Het
Dna2 A G 10: 62,792,768 (GRCm39) D261G probably damaging Het
Dnhd1 T A 7: 105,342,911 (GRCm39) S1418R probably benign Het
Dnpep A G 1: 75,288,422 (GRCm39) probably benign Het
Dock7 A T 4: 98,875,716 (GRCm39) Y1075N probably benign Het
Eif2s1 C T 12: 78,928,012 (GRCm39) probably benign Het
Ess2 T C 16: 17,725,419 (GRCm39) Y221C probably damaging Het
Fer1l6 T C 15: 58,425,573 (GRCm39) probably null Het
Gm5592 T C 7: 40,805,254 (GRCm39) probably benign Het
Ipp A G 4: 116,395,073 (GRCm39) Y536C probably damaging Het
Krt72 T C 15: 101,686,740 (GRCm39) E402G probably damaging Het
Lamb3 T C 1: 193,014,638 (GRCm39) L599P probably damaging Het
Lingo2 T A 4: 35,709,120 (GRCm39) T287S probably benign Het
Lipo3 T A 19: 33,537,025 (GRCm39) T232S probably benign Het
Lrrc63 G A 14: 75,363,550 (GRCm39) H194Y probably benign Het
Map3k13 A G 16: 21,725,274 (GRCm39) T416A probably benign Het
Mcm3 A T 1: 20,875,153 (GRCm39) probably null Het
Mms22l T C 4: 24,517,223 (GRCm39) V258A probably benign Het
Mrpl46 A T 7: 78,432,631 (GRCm39) L49* probably null Het
Mrs2 T C 13: 25,177,742 (GRCm39) T369A possibly damaging Het
Mtrf1 T A 14: 79,656,708 (GRCm39) Y403* probably null Het
Muc20 G A 16: 32,614,850 (GRCm39) P176S unknown Het
Mup21 C T 4: 62,068,964 (GRCm39) C9Y unknown Het
Mup-ps21 A T 4: 61,949,007 (GRCm39) noncoding transcript Het
Mybph T G 1: 134,125,081 (GRCm39) probably null Het
Mypn A G 10: 62,970,702 (GRCm39) probably benign Het
Nav2 T C 7: 49,058,431 (GRCm39) S124P probably damaging Het
Nrros T C 16: 31,962,241 (GRCm39) D556G probably damaging Het
Numa1 A C 7: 101,648,884 (GRCm39) I872L probably benign Het
Or14c40 A G 7: 86,313,544 (GRCm39) I225V possibly damaging Het
Or2a7 C T 6: 43,150,938 (GRCm39) T6I probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or4c11 A T 2: 88,695,272 (GRCm39) M108L probably benign Het
Or5p52 T A 7: 107,502,446 (GRCm39) I174K probably damaging Het
Pcdhb9 A T 18: 37,535,308 (GRCm39) N434I probably damaging Het
Pigq A T 17: 26,155,736 (GRCm39) probably null Het
Plxna2 T G 1: 194,471,145 (GRCm39) V972G probably damaging Het
Psma3 G A 12: 71,035,269 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,703,975 (GRCm39) T1336A probably benign Het
Rdh7 T C 10: 127,720,598 (GRCm39) D258G probably benign Het
Serpinb6c A G 13: 34,083,252 (GRCm39) I54T probably damaging Het
Sh2d7 A T 9: 54,448,633 (GRCm39) Y218F probably benign Het
Shfl AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,785,013 (GRCm39) probably benign Het
Slc12a8 A T 16: 33,371,274 (GRCm39) I137F possibly damaging Het
Smarca2 T C 19: 26,683,600 (GRCm39) V1153A possibly damaging Het
Smc6 A T 12: 11,339,165 (GRCm39) I334L probably benign Het
Sorcs1 A G 19: 50,230,380 (GRCm39) probably benign Het
Taar8c A G 10: 23,977,401 (GRCm39) L137P probably damaging Het
Tcam1 A T 11: 106,176,252 (GRCm39) D326V possibly damaging Het
Telo2 A T 17: 25,324,797 (GRCm39) V461D probably benign Het
Tmprss7 A T 16: 45,498,325 (GRCm39) C351* probably null Het
Trim66 T A 7: 109,054,199 (GRCm39) probably benign Het
Ube2d1 G T 10: 71,097,940 (GRCm39) H32N probably benign Het
Ubp1 T C 9: 113,793,736 (GRCm39) probably benign Het
Vma21 C T X: 70,863,763 (GRCm39) T81M probably damaging Het
Vmn1r113 T C 7: 20,521,345 (GRCm39) S46P probably benign Het
Wars1 T C 12: 108,831,944 (GRCm39) S374G probably benign Het
Wbp1 T C 6: 83,096,326 (GRCm39) D277G possibly damaging Het
Zfp939 C A 7: 39,123,209 (GRCm39) noncoding transcript Het
Other mutations in Adamts5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Adamts5 APN 16 85,696,722 (GRCm39) missense probably damaging 1.00
IGL01070:Adamts5 APN 16 85,660,021 (GRCm39) missense probably damaging 1.00
IGL01321:Adamts5 APN 16 85,696,363 (GRCm39) missense probably benign 0.03
IGL01616:Adamts5 APN 16 85,684,702 (GRCm39) splice site probably null
IGL02551:Adamts5 APN 16 85,666,926 (GRCm39) missense possibly damaging 0.71
IGL03263:Adamts5 APN 16 85,666,830 (GRCm39) missense probably damaging 0.99
IGL03295:Adamts5 APN 16 85,674,833 (GRCm39) missense probably damaging 1.00
IGL03393:Adamts5 APN 16 85,665,083 (GRCm39) missense probably damaging 0.99
IGL03403:Adamts5 APN 16 85,659,902 (GRCm39) missense probably damaging 0.97
R0414:Adamts5 UTSW 16 85,674,794 (GRCm39) missense probably damaging 1.00
R0419:Adamts5 UTSW 16 85,663,530 (GRCm39) missense probably benign 0.00
R0539:Adamts5 UTSW 16 85,665,580 (GRCm39) missense probably damaging 1.00
R0570:Adamts5 UTSW 16 85,696,135 (GRCm39) missense probably damaging 1.00
R0574:Adamts5 UTSW 16 85,696,372 (GRCm39) missense probably damaging 0.99
R1454:Adamts5 UTSW 16 85,666,881 (GRCm39) missense possibly damaging 0.88
R1498:Adamts5 UTSW 16 85,696,990 (GRCm39) missense possibly damaging 0.63
R1729:Adamts5 UTSW 16 85,674,803 (GRCm39) nonsense probably null
R1753:Adamts5 UTSW 16 85,696,240 (GRCm39) missense probably damaging 1.00
R1784:Adamts5 UTSW 16 85,674,803 (GRCm39) nonsense probably null
R1906:Adamts5 UTSW 16 85,665,573 (GRCm39) nonsense probably null
R1946:Adamts5 UTSW 16 85,696,131 (GRCm39) missense probably damaging 1.00
R2180:Adamts5 UTSW 16 85,684,812 (GRCm39) missense probably damaging 1.00
R2223:Adamts5 UTSW 16 85,696,194 (GRCm39) missense probably damaging 1.00
R2366:Adamts5 UTSW 16 85,659,646 (GRCm39) missense probably damaging 1.00
R3889:Adamts5 UTSW 16 85,665,009 (GRCm39) missense probably damaging 1.00
R4214:Adamts5 UTSW 16 85,665,531 (GRCm39) missense probably damaging 1.00
R4909:Adamts5 UTSW 16 85,696,954 (GRCm39) nonsense probably null
R5119:Adamts5 UTSW 16 85,696,466 (GRCm39) missense probably benign 0.00
R5230:Adamts5 UTSW 16 85,666,956 (GRCm39) missense probably damaging 0.97
R5452:Adamts5 UTSW 16 85,666,800 (GRCm39) critical splice donor site probably benign
R5652:Adamts5 UTSW 16 85,696,156 (GRCm39) missense probably damaging 1.00
R5831:Adamts5 UTSW 16 85,665,006 (GRCm39) missense probably damaging 1.00
R6045:Adamts5 UTSW 16 85,696,188 (GRCm39) missense probably damaging 0.99
R6259:Adamts5 UTSW 16 85,696,641 (GRCm39) missense probably benign 0.03
R6384:Adamts5 UTSW 16 85,659,716 (GRCm39) missense probably benign 0.00
R6724:Adamts5 UTSW 16 85,665,445 (GRCm39) missense probably benign 0.06
R6829:Adamts5 UTSW 16 85,666,959 (GRCm39) missense possibly damaging 0.52
R7066:Adamts5 UTSW 16 85,659,652 (GRCm39) missense probably damaging 1.00
R7256:Adamts5 UTSW 16 85,659,923 (GRCm39) missense probably damaging 1.00
R7293:Adamts5 UTSW 16 85,696,833 (GRCm39) missense probably benign 0.10
R7298:Adamts5 UTSW 16 85,696,806 (GRCm39) missense probably benign 0.35
R7384:Adamts5 UTSW 16 85,696,714 (GRCm39) missense probably benign 0.02
R7452:Adamts5 UTSW 16 85,674,869 (GRCm39) missense probably benign 0.00
R7727:Adamts5 UTSW 16 85,696,854 (GRCm39) missense probably damaging 1.00
R7785:Adamts5 UTSW 16 85,659,892 (GRCm39) missense probably damaging 0.99
R7894:Adamts5 UTSW 16 85,674,808 (GRCm39) nonsense probably null
R8111:Adamts5 UTSW 16 85,696,203 (GRCm39) missense probably damaging 1.00
R8370:Adamts5 UTSW 16 85,696,881 (GRCm39) missense possibly damaging 0.74
R8413:Adamts5 UTSW 16 85,663,506 (GRCm39) critical splice donor site probably null
R8505:Adamts5 UTSW 16 85,696,944 (GRCm39) missense probably benign 0.42
R8804:Adamts5 UTSW 16 85,666,800 (GRCm39) critical splice donor site probably benign
R9209:Adamts5 UTSW 16 85,666,971 (GRCm39) missense probably damaging 1.00
R9455:Adamts5 UTSW 16 85,667,017 (GRCm39) missense probably damaging 0.99
R9616:Adamts5 UTSW 16 85,659,674 (GRCm39) missense probably benign 0.34
X0062:Adamts5 UTSW 16 85,660,045 (GRCm39) missense probably damaging 1.00
Z1177:Adamts5 UTSW 16 85,666,962 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCCAGATGGCGAGAAAGCTGAG -3'
(R):5'- AACTCTACTCTGGCGGTGGCAAAG -3'

Sequencing Primer
(F):5'- AGCTGAGTGGTCCAGCAG -3'
(R):5'- AAAGTGGGCTACCTTGTCTACG -3'
Posted On 2014-08-21