Incidental Mutation 'R7066:Adamts5'
ID 548595
Institutional Source Beutler Lab
Gene Symbol Adamts5
Ensembl Gene ENSMUSG00000022894
Gene Name a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)
Synonyms 9530092O11Rik, ADAM-TS5
MMRRC Submission 045162-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R7066 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 85856173-85901828 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85862764 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 880 (V880E)
Ref Sequence ENSEMBL: ENSMUSP00000023611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023611]
AlphaFold Q9R001
Predicted Effect probably damaging
Transcript: ENSMUST00000023611
AA Change: V880E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: V880E

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 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,927,114 (GRCm38) V175A probably damaging Het
Adgrf1 T A 17: 43,310,260 (GRCm38) F463I probably benign Het
Ano1 T A 7: 144,637,086 (GRCm38) E249D probably benign Het
Aoc1 A G 6: 48,908,619 (GRCm38) D686G probably damaging Het
Cacna1d A T 14: 30,352,978 (GRCm38) probably benign Het
Cdc42ep4 A G 11: 113,729,218 (GRCm38) S116P probably damaging Het
Ces2a T C 8: 104,740,248 (GRCm38) V463A probably damaging Het
Depdc5 A G 5: 32,901,848 (GRCm38) D297G probably benign Het
Fsip2 T A 2: 82,990,891 (GRCm38) V5656E possibly damaging Het
Gbp5 A G 3: 142,507,729 (GRCm38) T469A probably benign Het
Gm21663 C G 5: 25,941,261 (GRCm38) probably null Het
Iqch A G 9: 63,524,745 (GRCm38) V456A probably benign Het
Lpcat1 A C 13: 73,511,381 (GRCm38) I373L probably benign Het
Morc2b C T 17: 33,136,636 (GRCm38) V721I probably benign Het
Mrgprb1 C T 7: 48,447,676 (GRCm38) V163M probably benign Het
Mtfr2 A G 10: 20,354,226 (GRCm38) I142V possibly damaging Het
Muc16 A T 9: 18,658,021 (GRCm38) S1067R unknown Het
Myh14 T C 7: 44,630,755 (GRCm38) S892G possibly damaging Het
Mylk2 C T 2: 152,911,668 (GRCm38) probably null Het
Mzf1 A T 7: 13,043,563 (GRCm38) V638E possibly damaging Het
Ncoa1 C T 12: 4,322,934 (GRCm38) V156I possibly damaging Het
Nf1 A G 11: 79,556,720 (GRCm38) E2450G probably damaging Het
Olfr1048 T C 2: 86,236,658 (GRCm38) D52G probably damaging Het
Olfr1086 T A 2: 86,677,226 (GRCm38) T36S possibly damaging Het
Olfr114 T A 17: 37,590,143 (GRCm38) D70V probably damaging Het
Olfr1245 T C 2: 89,575,703 (GRCm38) T8A probably damaging Het
Olfr1313 G A 2: 112,072,196 (GRCm38) P129L probably damaging Het
Olfr389 A G 11: 73,777,192 (GRCm38) I45T probably damaging Het
Olfr794 T C 10: 129,571,504 (GRCm38) L283S probably damaging Het
Olfr969 A G 9: 39,796,124 (GRCm38) I250V probably benign Het
P4htm T G 9: 108,596,963 (GRCm38) K125N probably damaging Het
Patj A G 4: 98,413,197 (GRCm38) T240A probably benign Het
Pcolce2 T C 9: 95,681,621 (GRCm38) V220A probably benign Het
Pcyox1 A T 6: 86,394,496 (GRCm38) I136N probably damaging Het
Pde4b A G 4: 102,602,806 (GRCm38) S395G probably benign Het
Peg3 C A 7: 6,708,857 (GRCm38) R1122L probably damaging Het
Plekhm1 A G 11: 103,370,988 (GRCm38) V922A possibly damaging Het
Rad51c T C 11: 87,402,676 (GRCm38) N118S possibly damaging Het
Rb1cc1 T A 1: 6,250,005 (GRCm38) V1216D possibly damaging Het
Rictor C T 15: 6,772,154 (GRCm38) S441L probably benign Het
Rlf T C 4: 121,148,787 (GRCm38) M999V probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,579,918 (GRCm38) probably benign Het
Samd7 G C 3: 30,751,123 (GRCm38) K18N probably benign Het
Sema5b A C 16: 35,651,312 (GRCm38) D425A probably benign Het
Siglecg A G 7: 43,411,742 (GRCm38) E413G probably benign Het
Tcaf1 A T 6: 42,679,177 (GRCm38) N288K probably damaging Het
Tdp1 A G 12: 99,894,732 (GRCm38) D210G probably benign Het
Umps A T 16: 33,961,733 (GRCm38) L273* probably null Het
Vcan A T 13: 89,705,686 (GRCm38) V385D probably damaging Het
Wdr59 T C 8: 111,465,845 (GRCm38) T676A probably benign Het
Zdbf2 A G 1: 63,307,559 (GRCm38) H1699R probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,895,021 (GRCm38) probably benign Het
Other mutations in Adamts5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Adamts5 APN 16 85,899,834 (GRCm38) missense probably damaging 1.00
IGL01070:Adamts5 APN 16 85,863,133 (GRCm38) missense probably damaging 1.00
IGL01321:Adamts5 APN 16 85,899,475 (GRCm38) missense probably benign 0.03
IGL01616:Adamts5 APN 16 85,887,814 (GRCm38) splice site probably null
IGL02551:Adamts5 APN 16 85,870,038 (GRCm38) missense possibly damaging 0.71
IGL03263:Adamts5 APN 16 85,869,942 (GRCm38) missense probably damaging 0.99
IGL03295:Adamts5 APN 16 85,877,945 (GRCm38) missense probably damaging 1.00
IGL03393:Adamts5 APN 16 85,868,195 (GRCm38) missense probably damaging 0.99
IGL03403:Adamts5 APN 16 85,863,014 (GRCm38) missense probably damaging 0.97
R0414:Adamts5 UTSW 16 85,877,906 (GRCm38) missense probably damaging 1.00
R0419:Adamts5 UTSW 16 85,866,642 (GRCm38) missense probably benign 0.00
R0539:Adamts5 UTSW 16 85,868,692 (GRCm38) missense probably damaging 1.00
R0570:Adamts5 UTSW 16 85,899,247 (GRCm38) missense probably damaging 1.00
R0574:Adamts5 UTSW 16 85,899,484 (GRCm38) missense probably damaging 0.99
R0669:Adamts5 UTSW 16 85,899,726 (GRCm38) missense probably benign 0.45
R1454:Adamts5 UTSW 16 85,869,993 (GRCm38) missense possibly damaging 0.88
R1498:Adamts5 UTSW 16 85,900,102 (GRCm38) missense possibly damaging 0.63
R1729:Adamts5 UTSW 16 85,877,915 (GRCm38) nonsense probably null
R1753:Adamts5 UTSW 16 85,899,352 (GRCm38) missense probably damaging 1.00
R1784:Adamts5 UTSW 16 85,877,915 (GRCm38) nonsense probably null
R1906:Adamts5 UTSW 16 85,868,685 (GRCm38) nonsense probably null
R1946:Adamts5 UTSW 16 85,899,243 (GRCm38) missense probably damaging 1.00
R2180:Adamts5 UTSW 16 85,887,924 (GRCm38) missense probably damaging 1.00
R2223:Adamts5 UTSW 16 85,899,306 (GRCm38) missense probably damaging 1.00
R2366:Adamts5 UTSW 16 85,862,758 (GRCm38) missense probably damaging 1.00
R3889:Adamts5 UTSW 16 85,868,121 (GRCm38) missense probably damaging 1.00
R4214:Adamts5 UTSW 16 85,868,643 (GRCm38) missense probably damaging 1.00
R4909:Adamts5 UTSW 16 85,900,066 (GRCm38) nonsense probably null
R5119:Adamts5 UTSW 16 85,899,578 (GRCm38) missense probably benign 0.00
R5230:Adamts5 UTSW 16 85,870,068 (GRCm38) missense probably damaging 0.97
R5452:Adamts5 UTSW 16 85,869,912 (GRCm38) critical splice donor site probably benign
R5652:Adamts5 UTSW 16 85,899,268 (GRCm38) missense probably damaging 1.00
R5831:Adamts5 UTSW 16 85,868,118 (GRCm38) missense probably damaging 1.00
R6045:Adamts5 UTSW 16 85,899,300 (GRCm38) missense probably damaging 0.99
R6259:Adamts5 UTSW 16 85,899,753 (GRCm38) missense probably benign 0.03
R6384:Adamts5 UTSW 16 85,862,828 (GRCm38) missense probably benign 0.00
R6724:Adamts5 UTSW 16 85,868,557 (GRCm38) missense probably benign 0.06
R6829:Adamts5 UTSW 16 85,870,071 (GRCm38) missense possibly damaging 0.52
R7256:Adamts5 UTSW 16 85,863,035 (GRCm38) missense probably damaging 1.00
R7293:Adamts5 UTSW 16 85,899,945 (GRCm38) missense probably benign 0.10
R7298:Adamts5 UTSW 16 85,899,918 (GRCm38) missense probably benign 0.35
R7384:Adamts5 UTSW 16 85,899,826 (GRCm38) missense probably benign 0.02
R7452:Adamts5 UTSW 16 85,877,981 (GRCm38) missense probably benign 0.00
R7727:Adamts5 UTSW 16 85,899,966 (GRCm38) missense probably damaging 1.00
R7785:Adamts5 UTSW 16 85,863,004 (GRCm38) missense probably damaging 0.99
R7894:Adamts5 UTSW 16 85,877,920 (GRCm38) nonsense probably null
R8111:Adamts5 UTSW 16 85,899,315 (GRCm38) missense probably damaging 1.00
R8370:Adamts5 UTSW 16 85,899,993 (GRCm38) missense possibly damaging 0.74
R8413:Adamts5 UTSW 16 85,866,618 (GRCm38) critical splice donor site probably null
R8505:Adamts5 UTSW 16 85,900,056 (GRCm38) missense probably benign 0.42
R8804:Adamts5 UTSW 16 85,869,912 (GRCm38) critical splice donor site probably benign
R9209:Adamts5 UTSW 16 85,870,083 (GRCm38) missense probably damaging 1.00
R9455:Adamts5 UTSW 16 85,870,129 (GRCm38) missense probably damaging 0.99
R9616:Adamts5 UTSW 16 85,862,786 (GRCm38) missense probably benign 0.34
X0062:Adamts5 UTSW 16 85,863,157 (GRCm38) missense probably damaging 1.00
Z1177:Adamts5 UTSW 16 85,870,074 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCACCACAGCTGTATCTGC -3'
(R):5'- ACATGGGATGGGCTATTCAG -3'

Sequencing Primer
(F):5'- ACAGCTGTATCTGCGATGATC -3'
(R):5'- GCCACAAAAGAAATCCTGATCGTG -3'
Posted On 2019-05-13