Mutagenetix > Incidental Mutation

Incidental Mutation 'R6045:Adamts5'

483811

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

044213-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R6045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85856173-85901828 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85899300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 323 (D323G)

Ref Sequence

ENSEMBL: ENSMUSP00000023611 (fasta)

Gene Model

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

AlphaFold

Q9R001

Predicted Effect

probably damaging
Transcript: ENSMUST00000023611
AA Change: D323G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: D323G

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,229,367	Y87C	probably benign	Het
5530401A14Rik	A	G	11: 81,893,868		probably benign	Het
5830473C10Rik	A	T	5: 90,584,989	Q553L	possibly damaging	Het
Bicc1	G	A	10: 70,957,081	R248*	probably null	Het
Bivm	T	G	1: 44,119,073		probably benign	Het
Ccdc8	A	C	7: 16,996,031	T482P	unknown	Het
Ccnb2	T	C	9: 70,419,093	I21V	probably benign	Het
Cfap73	A	T	5: 120,631,712	I82N	probably damaging	Het
Chd3	A	C	11: 69,352,118	F1426V	possibly damaging	Het
Clcn2	A	T	16: 20,711,688		probably null	Het
Col6a5	T	C	9: 105,925,918	N1283D	unknown	Het
Cyp39a1	G	T	17: 43,731,991	G411W	probably damaging	Het
D130052B06Rik	A	T	11: 33,624,008	I202L	unknown	Het
Dlgap1	T	C	17: 70,818,098	L948P	probably damaging	Het
Dnah3	C	T	7: 119,967,522	V2494M	probably damaging	Het
Dysf	T	A	6: 84,114,072	V1076D	probably damaging	Het
Eif2ak4	C	A	2: 118,388,815	S36*	probably null	Het
Elmod3	C	T	6: 72,568,868	R297H	probably benign	Het
Epas1	C	A	17: 86,809,399	R166S	probably damaging	Het
Erv3	A	G	2: 131,856,022	L139P	probably damaging	Het
Fryl	A	G	5: 73,118,551	V90A	probably damaging	Het
Fxr2	A	G	11: 69,651,051	R439G	possibly damaging	Het
Gabrd	A	T	4: 155,386,474	V259D	possibly damaging	Het
Galnt10	A	G	11: 57,783,793	Y536C	probably damaging	Het
Gbp10	A	T	5: 105,218,403	L545Q	probably damaging	Het
Gfpt1	A	T	6: 87,085,257	I517F	probably damaging	Het
Glb1	T	C	9: 114,437,942	Y225H	probably damaging	Het
Gm1110	C	T	9: 26,883,209		probably null	Het
Gm14851	A	T	8: 21,095,232	C65S	possibly damaging	Het
Gm36028	G	T	16: 37,856,022	Q128K	probably benign	Het
Gmps	C	T	3: 63,980,137	P10L	probably benign	Het
Greb1l	T	A	18: 10,547,068	V1465D	probably damaging	Het
Helz2	A	G	2: 181,240,313	V229A	probably benign	Het
Hipk1	A	T	3: 103,746,902	L924Q	probably benign	Het
Ifngr1	T	G	10: 19,609,161	L303V	possibly damaging	Het
Kif22	T	C	7: 127,031,078	N429D	probably benign	Het
Ktn1	T	C	14: 47,676,796	Y401H	probably damaging	Het
Lars2	T	G	9: 123,371,988	I39S	probably damaging	Het
Lipf	C	T	19: 33,966,844	A151V	probably damaging	Het
Lrp1	A	T	10: 127,566,600	M2234K	probably damaging	Het
Lrp1b	A	G	2: 40,701,813	V56A	unknown	Het
Lyar	T	A	5: 38,234,008	H350Q	probably benign	Het
Mill2	A	T	7: 18,856,564	M190L	probably benign	Het
Morc3	A	G	16: 93,874,845	D921G	probably damaging	Het
Mpp2	G	T	11: 102,059,354	T558K	probably benign	Het
Myh4	A	G	11: 67,244,724	D379G	probably benign	Het
Neb	A	C	2: 52,194,425		probably null	Het
Nedd1	G	A	10: 92,695,100	R376*	probably null	Het
Nlrc4	T	G	17: 74,446,959	D143A	probably damaging	Het
Nol10	G	T	12: 17,348,478		probably benign	Het
Olfr1316	T	G	2: 112,130,536	I92L	possibly damaging	Het
Olfr1404	C	T	1: 173,216,500	T283I	possibly damaging	Het
Olfr1431	C	A	19: 12,210,295	A243D	probably damaging	Het
Olfr197	T	A	16: 59,186,091	T131S	probably benign	Het
Olfr652	C	T	7: 104,564,767	T182I	probably benign	Het
Opn1sw	A	G	6: 29,379,870	S122P	probably damaging	Het
Orm1	T	A	4: 63,344,692	I32N	possibly damaging	Het
Pcdhb5	T	A	18: 37,321,575	V336E	probably damaging	Het
Poli	C	T	18: 70,517,469	R363K	possibly damaging	Het
Rabgap1l	T	C	1: 160,645,323	E515G	probably benign	Het
Rem2	C	A	14: 54,477,768	T134N	probably damaging	Het
Rfc1	A	G	5: 65,279,549	I596T	probably damaging	Het
Ruvbl2	A	T	7: 45,425,009	I202N	probably damaging	Het
S100a6	T	A	3: 90,613,879	I38N	probably damaging	Het
Scel	T	C	14: 103,592,213	C435R	probably benign	Het
Slc6a13	T	A	6: 121,321,628	W146R	probably damaging	Het
Sorcs1	T	A	19: 50,190,117	K856*	probably null	Het
Speer4e	T	G	5: 14,937,181	K70T	possibly damaging	Het
Sucla2	T	A	14: 73,568,964	C158*	probably null	Het
Tie1	G	A	4: 118,484,691	S187L	probably benign	Het
Tmem200a	T	C	10: 25,993,007	T455A	probably damaging	Het
Tra2a	A	G	6: 49,252,464		probably benign	Het
Tsnaxip1	A	C	8: 105,844,187	E615A	probably benign	Het
Tuba3b	T	A	6: 145,621,174	N380K	probably damaging	Het
Umod	C	T	7: 119,476,823	S240N	probably benign	Het
Vmn2r92	G	A	17: 18,168,043		probably null	Het
Vps13b	A	G	15: 35,671,316	E1655G	probably damaging	Het
Vwde	A	T	6: 13,219,936	I72N	probably damaging	Het
Wbp11	G	A	6: 136,821,535	A172V	probably damaging	Het
Zbtb41	T	A	1: 139,424,032	N294K	probably benign	Het
Zfhx4	T	A	3: 5,396,959	H1206Q	probably damaging	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
IGL01321:Adamts5	APN	16	85899475	missense	probably benign	0.03
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 benign
R5652:Adamts5	UTSW	16	85899268	missense	probably damaging	1.00
R5831:Adamts5	UTSW	16	85868118	missense	probably damaging	1.00
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
R8804:Adamts5	UTSW	16	85869912	critical splice donor site	probably benign
R9209:Adamts5	UTSW	16	85870083	missense	probably damaging	1.00
R9455:Adamts5	UTSW	16	85870129	missense	probably damaging	0.99
R9616:Adamts5	UTSW	16	85862786	missense	probably benign	0.34
X0062:Adamts5	UTSW	16	85863157	missense	probably damaging	1.00
Z1177:Adamts5	UTSW	16	85870074	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTTTGTATCCCAGGGCTG -3'
(R):5'- TTTCTCGCCATCTGGGAAC -3'

Posted On

2017-07-14