Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01321:Adamts5'

74043

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

IGL01321

Quality Score

Status

Chromosome

Chromosomal Location

85856173-85901828 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85899475 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 265 (R265G)

Ref Sequence

ENSEMBL: ENSMUSP00000023611 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023611
AA Change: R265G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: R265G

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,843	V76D	probably damaging	Het
Acnat2	A	G	4: 49,380,269	S370P	probably damaging	Het
Cd2ap	T	C	17: 42,845,389	S86G	possibly damaging	Het
Cers3	A	C	7: 66,786,003		probably benign	Het
Dnaaf2	G	T	12: 69,196,602	P562T	probably damaging	Het
Dnajc21	A	C	15: 10,447,102	V520G	probably benign	Het
Dpcr1	A	T	17: 35,636,866	N490K	probably damaging	Het
Dync1h1	A	G	12: 110,625,607		probably benign	Het
Extl3	T	C	14: 65,066,762	N733D	probably benign	Het
Gm5499	T	A	17: 87,078,500		noncoding transcript	Het
Gstm6	T	C	3: 107,941,063	Q180R	probably benign	Het
Hdlbp	G	A	1: 93,423,802	R460W	probably damaging	Het
Ift81	T	C	5: 122,610,968	D40G	probably damaging	Het
Igsf3	T	A	3: 101,427,022		probably benign	Het
Kcnb2	A	G	1: 15,312,923	T158A	probably benign	Het
Lrrc59	C	T	11: 94,638,600	R167*	probably null	Het
Macf1	A	G	4: 123,440,774	C4397R	probably damaging	Het
Morc1	T	C	16: 48,582,462	S583P	probably benign	Het
Nipsnap2	T	A	5: 129,757,141	*282R	probably null	Het
Olfr1160	A	T	2: 88,006,245	C178S	probably damaging	Het
Olfr703	T	C	7: 106,844,749	L46P	probably damaging	Het
Parp14	T	A	16: 35,856,559	Q1013L	probably benign	Het
Pdzd8	A	C	19: 59,301,529	S480A	probably benign	Het
Piezo1	A	T	8: 122,487,600	S1609R	probably damaging	Het
Pkp4	G	A	2: 59,350,627		probably null	Het
Plpp2	A	T	10: 79,527,493	V106D	probably damaging	Het
Rimbp2	T	C	5: 128,786,752	Y724C	probably benign	Het
Rpgrip1l	A	T	8: 91,260,873	L852*	probably null	Het
Samd9l	T	A	6: 3,376,259	D334V	probably benign	Het
Sipa1l2	G	A	8: 125,491,518	T360M	probably damaging	Het
Slc30a2	A	T	4: 134,343,300	D5V	probably damaging	Het
Spata31	T	C	13: 64,921,754	I572T	probably benign	Het
Tma16	G	A	8: 66,476,860	L161F	probably benign	Het
Trim69	A	T	2: 122,173,284	E238V	possibly damaging	Het
Zfhx4	A	G	3: 5,242,328	T205A	probably benign	Het

Other mutations in Adamts5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Adamts5	APN	16	85899834	missense	probably damaging	1.00
IGL01070:Adamts5	APN	16	85863133	missense	probably damaging	1.00
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
IGL03393:Adamts5	APN	16	85868195	missense	probably damaging	0.99
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
R7452:Adamts5	UTSW	16	85877981	missense	probably benign	0.00
R7727:Adamts5	UTSW	16	85899966	missense	probably damaging	1.00
R7785:Adamts5	UTSW	16	85863004	missense	probably damaging	0.99
R7894:Adamts5	UTSW	16	85877920	nonsense	probably null
R8111:Adamts5	UTSW	16	85899315	missense	probably damaging	1.00
R8370:Adamts5	UTSW	16	85899993	missense	possibly damaging	0.74
R8413:Adamts5	UTSW	16	85866618	critical splice donor site	probably null
R8505:Adamts5	UTSW	16	85900056	missense	probably benign	0.42
X0062:Adamts5	UTSW	16	85863157	missense	probably damaging	1.00
Z1177:Adamts5	UTSW	16	85870074	missense	probably damaging	1.00

Posted On

2013-10-07