Incidental Mutation 'R5452:Adamts5'
ID 432604
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 042848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R5452 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 85655045-85698013 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) A to G at 85666800 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 benign
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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A T 8: 41,248,801 (GRCm39) I304F probably damaging Het
Akr1c6 A G 13: 4,504,544 (GRCm39) R132G probably benign Het
Ash1l T A 3: 88,892,183 (GRCm39) M1354K possibly damaging Het
C6 T C 15: 4,844,311 (GRCm39) I911T possibly damaging Het
Calm2 T C 17: 87,743,150 (GRCm39) probably null Het
Ccdc80 G A 16: 44,938,528 (GRCm39) R745Q probably damaging Het
Celsr3 T C 9: 108,721,233 (GRCm39) I2685T possibly damaging Het
Chkb T C 15: 89,313,788 (GRCm39) probably benign Het
Dennd5b T A 6: 148,943,011 (GRCm39) probably null Het
Dnah2 T C 11: 69,415,209 (GRCm39) Y175C probably damaging Het
Dnajc13 A G 9: 104,069,313 (GRCm39) S1154P probably benign Het
Ephb4 T C 5: 137,359,404 (GRCm39) S325P probably damaging Het
Fzd9 C T 5: 135,279,714 (GRCm39) R57H probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm9949 A G 18: 62,313,587 (GRCm39) probably benign Het
Gnb4 A T 3: 32,643,994 (GRCm39) M188K probably benign Het
Hr G T 14: 70,794,067 (GRCm39) G109V probably damaging Het
Lrp1b A G 2: 40,812,328 (GRCm39) S2426P probably damaging Het
Map2k4 A G 11: 65,610,413 (GRCm39) W88R probably damaging Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Moxd2 C T 6: 40,859,048 (GRCm39) probably null Het
Mrgprx1 T C 7: 47,671,556 (GRCm39) I64V probably benign Het
Mtrex T C 13: 113,049,715 (GRCm39) S232G probably null Het
Or5p68 A C 7: 107,945,312 (GRCm39) I292S probably damaging Het
Padi2 T C 4: 140,659,382 (GRCm39) F229S probably benign Het
Pappa2 T C 1: 158,666,172 (GRCm39) N1136S probably benign Het
Pcdhb1 A T 18: 37,398,811 (GRCm39) N254I possibly damaging Het
Plcb2 A G 2: 118,548,727 (GRCm39) Y400H probably damaging Het
Plce1 A C 19: 38,608,926 (GRCm39) T412P probably benign Het
Prg4 T C 1: 150,331,519 (GRCm39) probably benign Het
Prkdc A G 16: 15,586,501 (GRCm39) N2510S possibly damaging Het
Psme4 T A 11: 30,741,168 (GRCm39) S107T probably benign Het
Resf1 C A 6: 149,230,611 (GRCm39) S1219* probably null Het
Rint1 G T 5: 23,999,363 (GRCm39) A51S probably benign Het
Rsad1 T A 11: 94,434,515 (GRCm39) R306S probably damaging Het
Sema3c T G 5: 17,922,068 (GRCm39) probably null Het
Sirt3 G A 7: 140,444,928 (GRCm39) T290I probably damaging Het
Spam1 G A 6: 24,800,731 (GRCm39) G490D probably benign Het
Speer4f2 C T 5: 17,581,498 (GRCm39) R147W possibly damaging Het
Sppl2c A T 11: 104,078,126 (GRCm39) I309L probably benign Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
St3gal4 C T 9: 34,964,752 (GRCm39) R152H probably damaging Het
Sv2c A T 13: 96,114,591 (GRCm39) F532I probably damaging Het
Tacc1 C A 8: 25,654,431 (GRCm39) K705N probably null Het
Tekt3 G T 11: 62,985,619 (GRCm39) S475I probably damaging Het
Tjap1 T C 17: 46,571,101 (GRCm39) T139A probably damaging Het
Tnfrsf8 T A 4: 145,019,214 (GRCm39) K207M possibly damaging Het
Tnn T C 1: 159,937,831 (GRCm39) T965A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt2a A G 16: 18,068,814 (GRCm39) H270R probably damaging Het
Ttc21a T C 9: 119,780,037 (GRCm39) L448P probably benign Het
Ttll4 C A 1: 74,718,480 (GRCm39) N110K probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Tut7 A G 13: 59,948,471 (GRCm39) Y215H probably damaging Het
Ubr1 A G 2: 120,698,783 (GRCm39) Y1595H possibly damaging Het
Unc45a G A 7: 79,978,787 (GRCm39) P621S probably damaging Het
Xrn2 A T 2: 146,866,633 (GRCm39) probably null 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
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
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'- TGGAGTTTGCCAAGAAATCCCTG -3'
(R):5'- AGTGCAACTTGACATTTGGGC -3'

Sequencing Primer
(F):5'- GCCAAGAAATCCCTGTTACTTGTGTG -3'
(R):5'- CAACTTGACATTTGGGCCTGAGTAC -3'
Posted On 2016-10-06