Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03393:Adamts5'

421144

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 #

IGL03393

Quality Score

Status

Chromosome

Chromosomal Location

85655045-85698013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85665083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 627 (S627Y)

Ref Sequence

ENSEMBL: ENSMUSP00000023611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023611]

AlphaFold

Q9R001

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 86,909,902 (GRCm39)		probably benign	Het
Allc	G	A	12: 28,610,010 (GRCm39)	R196C	probably damaging	Het
Ccdc65	A	C	15: 98,618,568 (GRCm39)	E241A	probably benign	Het
Dclk3	T	C	9: 111,317,741 (GRCm39)		probably benign	Het
Fzd4	T	C	7: 89,056,505 (GRCm39)	V184A	probably benign	Het
Gfap	T	A	11: 102,784,083 (GRCm39)		probably null	Het
Gpr149	A	G	3: 62,511,366 (GRCm39)	V211A	probably benign	Het
Gprc6a	A	G	10: 51,491,355 (GRCm39)	I623T	probably damaging	Het
Gucy2c	T	C	6: 136,696,665 (GRCm39)	T687A	probably benign	Het
Kcnc4	T	G	3: 107,355,243 (GRCm39)	M402L	possibly damaging	Het
Ktn1	T	C	14: 47,928,391 (GRCm39)	L584S	probably damaging	Het
Mrgprb2	C	T	7: 48,202,650 (GRCm39)	S25N	probably benign	Het
Muc5b	T	A	7: 141,417,875 (GRCm39)	V3607E	probably benign	Het
Or4c58	C	A	2: 89,674,913 (GRCm39)	V135L	probably benign	Het
Or6c3b	T	C	10: 129,527,147 (GRCm39)	I254M	probably damaging	Het
Otx2	A	G	14: 48,898,781 (GRCm39)	I75T	probably damaging	Het
Pabpc4l	T	C	3: 46,400,972 (GRCm39)	D224G	probably damaging	Het
Peg3	A	T	7: 6,710,648 (GRCm39)	C1525S	probably damaging	Het
Polq	A	T	16: 36,865,156 (GRCm39)	L669F	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rims2	A	G	15: 39,326,009 (GRCm39)		probably null	Het
Rrp12	A	T	19: 41,860,232 (GRCm39)	M997K	possibly damaging	Het
Sbno2	G	A	10: 79,902,735 (GRCm39)	R414W	probably damaging	Het
Scn1a	T	C	2: 66,148,362 (GRCm39)	D41G	probably benign	Het
Serpinb1c	A	T	13: 33,066,044 (GRCm39)	D300E	probably damaging	Het
Timeless	G	A	10: 128,087,924 (GRCm39)	D1165N	probably damaging	Het
Tnpo1	T	G	13: 99,024,981 (GRCm39)	K66N	probably damaging	Het
Trappc11	A	T	8: 47,963,912 (GRCm39)	N629K	possibly damaging	Het
Ubr4	T	A	4: 139,179,989 (GRCm39)	L255M	probably damaging	Het
Vmn1r10	T	A	6: 57,091,042 (GRCm39)	Y211*	probably null	Het
Vmn2r76	T	G	7: 85,879,034 (GRCm39)	N422T	probably benign	Het
Xylt1	C	A	7: 117,192,940 (GRCm39)	N415K	probably damaging	Het
Zfp786	A	T	6: 47,798,458 (GRCm39)	V160E	possibly damaging	Het

Other mutations in Adamts5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02