Incidental Mutation 'IGL03393:Adamts5'
ID421144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamts5
Ensembl Gene ENSMUSG00000022894
Gene Namea disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)
Synonyms9530092O11Rik, ADAM-TS5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.201) question?
Stock #IGL03393
Quality Score
Status
Chromosome16
Chromosomal Location85856173-85901828 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 85868195 bp
ZygosityHeterozygous
Amino Acid Change Serine to Tyrosine at position 627 (S627Y)
Ref Sequence ENSEMBL: ENSMUSP00000023611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023611]
Predicted Effect probably damaging
Transcript: ENSMUST00000023611
AA Change: S627Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: S627Y

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
Coding Region Coverage
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 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,074,038 probably benign Het
Allc G A 12: 28,560,011 R196C probably damaging Het
Ccdc65 A C 15: 98,720,687 E241A probably benign Het
Dclk3 T C 9: 111,488,673 probably benign Het
Fzd4 T C 7: 89,407,297 V184A probably benign Het
Gfap T A 11: 102,893,257 probably null Het
Gpr149 A G 3: 62,603,945 V211A probably benign Het
Gprc6a A G 10: 51,615,259 I623T probably damaging Het
Gucy2c T C 6: 136,719,667 T687A probably benign Het
Kcnc4 T G 3: 107,447,927 M402L possibly damaging Het
Ktn1 T C 14: 47,690,934 L584S probably damaging Het
Mrgprb2 C T 7: 48,552,902 S25N probably benign Het
Muc5b T A 7: 141,864,138 V3607E probably benign Het
Olfr48 C A 2: 89,844,569 V135L probably benign Het
Olfr803 T C 10: 129,691,278 I254M probably damaging Het
Otx2 A G 14: 48,661,324 I75T probably damaging Het
Pabpc4l T C 3: 46,446,537 D224G probably damaging Het
Peg3 A T 7: 6,707,649 C1525S probably damaging Het
Polq A T 16: 37,044,794 L669F probably damaging Het
Prss40 A C 1: 34,558,101 V122G probably damaging Het
Rims2 A G 15: 39,462,613 probably null Het
Rrp12 A T 19: 41,871,793 M997K possibly damaging Het
Sbno2 G A 10: 80,066,901 R414W probably damaging Het
Scn1a T C 2: 66,318,018 D41G probably benign Het
Serpinb1c A T 13: 32,882,061 D300E probably damaging Het
Timeless G A 10: 128,252,055 D1165N probably damaging Het
Tnpo1 T G 13: 98,888,473 K66N probably damaging Het
Trappc11 A T 8: 47,510,877 N629K possibly damaging Het
Ubr4 T A 4: 139,452,678 L255M probably damaging Het
Vmn1r10 T A 6: 57,114,057 Y211* probably null Het
Vmn2r76 T G 7: 86,229,826 N422T probably benign Het
Xylt1 C A 7: 117,593,713 N415K probably damaging Het
Zfp786 A T 6: 47,821,524 V160E possibly damaging Het
Other mutations in Adamts5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Adamts5 APN 16 85899834 missense probably damaging 1.00
IGL01070:Adamts5 APN 16 85863133 missense probably damaging 1.00
IGL01321:Adamts5 APN 16 85899475 missense probably benign 0.03
IGL01616:Adamts5 APN 16 85887814 splice site probably null
IGL02551:Adamts5 APN 16 85870038 missense possibly damaging 0.71
IGL03263:Adamts5 APN 16 85869942 missense probably damaging 0.99
IGL03295:Adamts5 APN 16 85877945 missense probably damaging 1.00
IGL03403:Adamts5 APN 16 85863014 missense probably damaging 0.97
R0414:Adamts5 UTSW 16 85877906 missense probably damaging 1.00
R0419:Adamts5 UTSW 16 85866642 missense probably benign 0.00
R0539:Adamts5 UTSW 16 85868692 missense probably damaging 1.00
R0570:Adamts5 UTSW 16 85899247 missense probably damaging 1.00
R0574:Adamts5 UTSW 16 85899484 missense probably damaging 0.99
R0669:Adamts5 UTSW 16 85899726 missense probably benign 0.45
R1454:Adamts5 UTSW 16 85869993 missense possibly damaging 0.88
R1498:Adamts5 UTSW 16 85900102 missense possibly damaging 0.63
R1729:Adamts5 UTSW 16 85877915 nonsense probably null
R1753:Adamts5 UTSW 16 85899352 missense probably damaging 1.00
R1784:Adamts5 UTSW 16 85877915 nonsense probably null
R1906:Adamts5 UTSW 16 85868685 nonsense probably null
R1946:Adamts5 UTSW 16 85899243 missense probably damaging 1.00
R2180:Adamts5 UTSW 16 85887924 missense probably damaging 1.00
R2223:Adamts5 UTSW 16 85899306 missense probably damaging 1.00
R2366:Adamts5 UTSW 16 85862758 missense probably damaging 1.00
R3889:Adamts5 UTSW 16 85868121 missense probably damaging 1.00
R4214:Adamts5 UTSW 16 85868643 missense probably damaging 1.00
R4909:Adamts5 UTSW 16 85900066 nonsense probably null
R5119:Adamts5 UTSW 16 85899578 missense probably benign 0.00
R5230:Adamts5 UTSW 16 85870068 missense probably damaging 0.97
R5452:Adamts5 UTSW 16 85869912 critical splice donor site probably null
R5652:Adamts5 UTSW 16 85899268 missense probably damaging 1.00
R5831:Adamts5 UTSW 16 85868118 missense probably damaging 1.00
R6045:Adamts5 UTSW 16 85899300 missense probably damaging 0.99
R6259:Adamts5 UTSW 16 85899753 missense probably benign 0.03
R6384:Adamts5 UTSW 16 85862828 missense probably benign 0.00
R6724:Adamts5 UTSW 16 85868557 missense probably benign 0.06
R6829:Adamts5 UTSW 16 85870071 missense possibly damaging 0.52
R7066:Adamts5 UTSW 16 85862764 missense probably damaging 1.00
R7256:Adamts5 UTSW 16 85863035 missense probably damaging 1.00
R7293:Adamts5 UTSW 16 85899945 missense probably benign 0.10
R7298:Adamts5 UTSW 16 85899918 missense probably benign 0.35
R7384:Adamts5 UTSW 16 85899826 missense probably benign 0.02
X0062:Adamts5 UTSW 16 85863157 missense probably damaging 1.00
Posted On2016-08-02