Incidental Mutation 'IGL01616:Adamts5'
ID 92402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamts5
Ensembl Gene ENSMUSG00000022894
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 5
Synonyms ADAM-TS5, 9530092O11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # IGL01616
Quality Score
Status
Chromosome 16
Chromosomal Location 85655045-85698013 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 85684702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023611]
AlphaFold Q9R001
Predicted Effect probably null
Transcript: ENSMUST00000023611
SMART Domains Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T A 8: 124,228,746 (GRCm39) W771R probably damaging Het
Braf A G 6: 39,628,586 (GRCm39) S348P probably damaging Het
Cd200 T C 16: 45,217,419 (GRCm39) T112A possibly damaging Het
Cep350 T C 1: 155,828,993 (GRCm39) I304V probably benign Het
Fcsk G T 8: 111,617,108 (GRCm39) H388N possibly damaging Het
Fry A G 5: 150,323,064 (GRCm39) T1072A probably damaging Het
Fry A T 5: 150,362,276 (GRCm39) probably null Het
Gcdh C T 8: 85,620,288 (GRCm39) G8D probably damaging Het
Ivns1abp C A 1: 151,237,294 (GRCm39) T486K possibly damaging Het
Mat1a G A 14: 40,831,436 (GRCm39) V55M probably damaging Het
Or52p1 T C 7: 104,266,928 (GRCm39) F22S probably damaging Het
Pcnx3 C T 19: 5,717,287 (GRCm39) probably benign Het
Psrc1 C A 3: 108,294,008 (GRCm39) S275Y possibly damaging Het
Ptpn21 A G 12: 98,646,272 (GRCm39) L1062P probably damaging Het
Slc22a13b A C 9: 119,049,994 (GRCm39) probably benign Het
Slc35b1 T A 11: 95,279,910 (GRCm39) M178K probably benign Het
Slc6a11 A T 6: 114,111,829 (GRCm39) Q132L possibly damaging Het
Slc9a8 C T 2: 167,266,086 (GRCm39) T21I possibly damaging Het
Tox T C 4: 6,688,430 (GRCm39) T526A probably damaging Het
Ubr3 C T 2: 69,850,828 (GRCm39) P1749S probably benign Het
Wdfy3 C A 5: 102,061,126 (GRCm39) A1363S probably damaging Het
Zdhhc23 T A 16: 43,793,843 (GRCm39) H277L probably damaging 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
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
R0669:Adamts5 UTSW 16 85,696,614 (GRCm39) missense probably benign 0.45
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
Posted On 2013-12-09