Mutagenetix > Incidental Mutation

Incidental Mutation 'R0539:Adamts5'

49744

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

038731-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R0539 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85856173-85901828 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85868692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 574 (G574S)

Ref Sequence

ENSEMBL: ENSMUSP00000023611 (fasta)

Gene Model

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

AlphaFold

Q9R001

Predicted Effect

probably damaging
Transcript: ENSMUST00000023611
AA Change: G574S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: G574S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (107/107)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,379,350	H129Q	probably damaging	Het
Abca14	G	A	7: 120,207,797	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,669,075	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208	N357I	possibly damaging	Het
Adgrg5	T	A	8: 94,938,632	N389K	probably damaging	Het
Ankk1	A	G	9: 49,418,030	V80A	probably benign	Het
Arhgap20	A	G	9: 51,850,155	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,914,799	K32*	probably null	Het
AW209491	T	C	13: 14,637,732	F390S	probably damaging	Het
Axl	A	T	7: 25,778,717		probably benign	Het
Bri3bp	A	G	5: 125,454,539	Y183C	probably damaging	Het
Cad	T	C	5: 31,075,457		probably benign	Het
Capns2	A	G	8: 92,901,732	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,925,162	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,523,706	V166A	possibly damaging	Het
Clmp	A	G	9: 40,782,486	Y333C	probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Copz1	A	G	15: 103,291,365	Y69C	probably damaging	Het
Crybg1	T	C	10: 43,998,898	D738G	probably benign	Het
Ctnna2	T	A	6: 76,973,899	I165F	probably damaging	Het
Dcaf7	T	G	11: 106,051,826	S200A	probably damaging	Het
Deup1	T	A	9: 15,582,597	R416S	possibly damaging	Het
Dmxl1	T	A	18: 49,857,430		probably benign	Het
Dnase2b	A	T	3: 146,589,155		probably benign	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eef2	C	CN	10: 81,178,768		probably null	Het
Ephb2	T	C	4: 136,655,976	Y931C	probably damaging	Het
Fam83h	T	C	15: 76,003,227	S754G	possibly damaging	Het
Fibp	T	A	19: 5,463,188	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,832,898	I571T	probably damaging	Het
Grm7	T	G	6: 111,359,094		probably benign	Het
Gsdma3	A	G	11: 98,635,919	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,032,141		probably benign	Het
Hist1h4c	A	G	13: 23,698,148	F101S	probably damaging	Het
Hydin	A	G	8: 110,523,072	I2216V	probably benign	Het
Ipo8	A	G	6: 148,818,108	M113T	probably benign	Het
Kdm6a	A	G	X: 18,262,425	E1045G	probably damaging	Het
Kyat1	C	T	2: 30,188,217	E117K	probably damaging	Het
Lin7b	A	G	7: 45,369,902		probably benign	Het
Lipn	G	A	19: 34,084,603		probably benign	Het
Lrfn2	C	A	17: 49,071,044	N384K	probably damaging	Het
Lrrc6	A	T	15: 66,447,606	V305D	probably damaging	Het
Map1b	T	C	13: 99,434,018	K732E	unknown	Het
Mpl	A	G	4: 118,443,508	M541T	possibly damaging	Het
Mprip	T	C	11: 59,741,117		probably benign	Het
Mrc1	T	C	2: 14,270,126		probably benign	Het
Ms4a13	T	C	19: 11,171,871		probably benign	Het
Myo18b	G	T	5: 112,723,868	R2116S	probably damaging	Het
Nav2	A	G	7: 49,461,938	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,415,697	A642D	probably benign	Het
Ndufs7	T	A	10: 80,254,831		probably benign	Het
Nfkbiz	G	A	16: 55,817,879	T406M	probably benign	Het
Nr4a1	A	G	15: 101,270,884	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,493,404	F1103V	probably damaging	Het
Olfr1028	G	T	2: 85,952,009	M315I	probably benign	Het
Olfr1044	A	T	2: 86,171,043	M258K	probably damaging	Het
Olfr1441	C	T	19: 12,422,809	L167F	probably damaging	Het
Olfr381	T	C	11: 73,486,063	T254A	probably benign	Het
Olfr479	C	T	7: 108,055,822	T280I	probably damaging	Het
Olfr958	A	T	9: 39,550,297	D191E	probably damaging	Het
Olfr996	T	A	2: 85,579,775	C179S	probably damaging	Het
Phf1	A	G	17: 26,934,458		probably null	Het
Pip	C	T	6: 41,849,885	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,118,162		probably null	Het
Prl2c5	A	G	13: 13,189,321		probably null	Het
Psph	T	A	5: 129,766,577		probably benign	Het
Ptch1	C	T	13: 63,543,480		probably benign	Het
Ptprs	C	T	17: 56,458,255	V10M	probably damaging	Het
Rarg	T	C	15: 102,238,877	R358G	probably damaging	Het
Rbl2	T	C	8: 91,112,505		probably benign	Het
Robo2	A	T	16: 73,985,574		probably benign	Het
Scin	A	T	12: 40,081,766	D256E	possibly damaging	Het
Scn8a	T	C	15: 101,016,568	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,225,301		probably benign	Het
Slc13a2	G	A	11: 78,399,138	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,692,230	I519V	probably benign	Het
Slc30a9	C	T	5: 67,334,610	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,202,762	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558	K466N	probably benign	Het
Snx16	T	C	3: 10,426,218	E209G	probably damaging	Het
Sp3	A	T	2: 72,970,532	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,454,794	V1202F	probably benign	Het
Stam2	A	T	2: 52,703,256		probably benign	Het
Stox2	T	C	8: 47,194,035	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,866,523	T49A	probably damaging	Het
Supt3	A	T	17: 45,003,131	I136F	possibly damaging	Het
Syne2	A	T	12: 76,024,121	R103S	possibly damaging	Het
Synj2	T	A	17: 5,996,888	M1K	probably null	Het
Tas2r110	T	C	6: 132,868,371	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434		probably null	Het
Tmem117	A	G	15: 94,714,912	T110A	possibly damaging	Het
Tmem247	A	G	17: 86,917,478	D5G	probably benign	Het
Tmem39a	T	A	16: 38,590,975	F363I	probably benign	Het
Tmem80	G	A	7: 141,335,895	A73T	possibly damaging	Het
Trpm4	C	T	7: 45,305,472	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,063,986		probably benign	Het
Vmn1r120	A	T	7: 21,053,472	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,580,947		probably benign	Het
Vmn2r95	T	C	17: 18,452,100	F700L	probably damaging	Het
Wdr70	G	A	15: 7,885,637	T550M	possibly damaging	Het
Zbtb22	A	G	17: 33,918,144	D421G	possibly damaging	Het
Zbtb45	G	A	7: 13,006,333	R452C	probably damaging	Het
Zfhx3	T	C	8: 108,800,509	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,806,593		probably null	Het
Zfp532	T	A	18: 65,623,766	S257T	probably benign	Het
Zfp933	G	A	4: 147,826,548	T197I	probably benign	Het
Zgrf1	T	A	3: 127,615,192	N1649K	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
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
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
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'- TGATTACTGACACCTGAGGGCAGC -3'
(R):5'- ATGCCCAGCATCAAACAAAGGTTTC -3'

Sequencing Primer
(F):5'- AGGGCAGCGTACTTACCATTG -3'
(R):5'- GGTCCTGAATAATGATGACCTGC -3'

Posted On

2013-06-12