Mutagenetix > Incidental Mutations

Incidental Mutation 'R4684:Adamts3'

353505

Institutional Source

Beutler Lab

Gene Symbol

Adamts3

Ensembl Gene

ENSMUSG00000043635

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3

Synonyms

6330442E02Rik, 1100001H14Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89677087-89883334 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89703007 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 558 (T558P)

Ref Sequence

ENSEMBL: ENSMUSP00000058552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061427] [ENSMUST00000163159]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061427
AA Change: T558P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: T558P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	42	201	5.1e-40	PFAM
Pfam:Reprolysin_5	254	439	5.4e-15	PFAM
Pfam:Reprolysin_4	256	454	1.9e-10	PFAM
Pfam:Reprolysin	257	460	3.6e-22	PFAM
Pfam:Reprolysin_2	274	451	7.7e-13	PFAM
Pfam:Reprolysin_3	278	409	1.5e-12	PFAM
TSP1	554	606	1.26e-15	SMART
Pfam:ADAM_spacer1	713	827	3e-34	PFAM
TSP1	848	905	4.35e-2	SMART
TSP1	908	967	4.95e-2	SMART
TSP1	969	1016	6.58e-5	SMART
low complexity region	1114	1128	N/A	INTRINSIC
low complexity region	1157	1177	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163159
AA Change: T558P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: T558P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	43	201	1.5e-40	PFAM
Pfam:Reprolysin_5	254	439	2.2e-15	PFAM
Pfam:Reprolysin_4	256	454	7.7e-11	PFAM
Pfam:Reprolysin	257	460	3.7e-21	PFAM
Pfam:Reprolysin_2	274	451	4.3e-14	PFAM
Pfam:Reprolysin_3	278	409	1.3e-12	PFAM
TSP1	554	606	1.26e-15	SMART
Pfam:ADAM_spacer1	713	828	3.6e-28	PFAM
TSP1	849	906	4.35e-2	SMART
TSP1	909	968	4.95e-2	SMART
TSP1	970	1017	6.58e-5	SMART
low complexity region	1115	1129	N/A	INTRINSIC
low complexity region	1158	1178	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193	R3882*	probably null	Het
Ano2	A	G	6: 125,790,341	N214S	probably benign	Het
Arhgef4	A	T	1: 34,811,785		probably null	Het
Boc	C	T	16: 44,500,380	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256		probably benign	Het
Cobll1	G	T	2: 65,099,028	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003	Y118N	probably damaging	Het
Dgki	A	T	6: 37,299,846		probably benign	Het
Disp2	A	G	2: 118,792,756	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409	Y42*	probably null	Het
Eps8l1	C	A	7: 4,473,945	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,721,687	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256	F910L	probably damaging	Het
Helz	T	C	11: 107,649,145	V315A	probably damaging	Het
Hk2	T	C	6: 82,739,648	Y301C	probably damaging	Het
Htt	C	T	5: 34,852,765	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433	M1T	probably null	Het
Ik	T	C	18: 36,752,414	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430	F123L	probably damaging	Het
Mettl7b	G	T	10: 128,960,702	C79*	probably null	Het
Myh4	G	C	11: 67,245,811	D472H	probably damaging	Het
Nipa2	A	T	7: 55,935,826	N121K	probably benign	Het
Nostrin	C	T	2: 69,183,924	T408M	probably benign	Het
Olfr347	A	G	2: 36,734,674	M118V	probably damaging	Het
Olfr725	T	C	14: 50,034,830	D191G	probably damaging	Het
Oosp2	C	T	19: 11,649,653	R102H	probably damaging	Het
Osgin2	T	A	4: 16,001,946	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179	K35*	probably null	Het
Psmc2	A	G	5: 21,803,265	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,441,125	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200		probably null	Het
Secisbp2l	T	C	2: 125,745,942	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076	F1887S	probably damaging	Het
Sptbn4	T	C	7: 27,364,419	E879G	probably damaging	Het
Sptbn4	A	T	7: 27,366,735	D649E	possibly damaging	Het
Stx5a	C	A	19: 8,743,361	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847	S32P	probably benign	Het
Trmt44	C	T	5: 35,558,043	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114	F1107L	probably benign	Het
Usp5	A	T	6: 124,817,956	V677E	probably damaging	Het
Utp20	A	T	10: 88,807,445	L605*	probably null	Het
Utrn	T	C	10: 12,745,240	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,178	V1476A	probably damaging	Het
Vps13b	C	T	15: 35,841,341	H2506Y	probably benign	Het
Vps13b	C	A	15: 35,879,821	T3014K	probably benign	Het
Vps37c	T	C	19: 10,712,768	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078	T1994A	probably benign	Het
Zfp791	A	G	8: 85,110,930	Y102H	probably benign	Het

Other mutations in Adamts3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Adamts3	APN	5	89861325	missense	probably damaging	1.00
IGL00340:Adamts3	APN	5	89701666	missense	probably damaging	1.00
IGL00923:Adamts3	APN	5	89684376	missense	probably benign	0.06
IGL01420:Adamts3	APN	5	89703057	missense	possibly damaging	0.57
IGL01522:Adamts3	APN	5	89702943	missense	probably benign	0.14
IGL01676:Adamts3	APN	5	89677754	missense	probably benign	0.00
IGL01676:Adamts3	APN	5	89881543	missense	possibly damaging	0.54
IGL01678:Adamts3	APN	5	89707856	missense	probably damaging	1.00
IGL01936:Adamts3	APN	5	89861423	missense	probably benign	0.00
IGL01956:Adamts3	APN	5	89677911	missense	probably damaging	0.99
IGL02342:Adamts3	APN	5	89691473	splice site	probably null
IGL02415:Adamts3	APN	5	89706647	splice site	probably null
IGL03261:Adamts3	APN	5	89882897	utr 5 prime	probably benign
IGL03301:Adamts3	APN	5	89707404	missense	probably damaging	1.00
R0041:Adamts3	UTSW	5	89684467	missense	probably benign
R0079:Adamts3	UTSW	5	89693053	missense	probably benign	0.00
R0096:Adamts3	UTSW	5	89701717	nonsense	probably null
R0096:Adamts3	UTSW	5	89701717	nonsense	probably null
R0477:Adamts3	UTSW	5	89684507	missense	probably benign
R0605:Adamts3	UTSW	5	89861475	missense	possibly damaging	0.96
R1036:Adamts3	UTSW	5	89696093	splice site	probably benign
R1462:Adamts3	UTSW	5	89861349	missense	probably benign	0.17
R1462:Adamts3	UTSW	5	89861349	missense	probably benign	0.17
R1621:Adamts3	UTSW	5	89721701	missense	probably damaging	1.00
R1799:Adamts3	UTSW	5	89775421	missense	probably benign	0.00
R2163:Adamts3	UTSW	5	89708718	missense	probably damaging	0.99
R2412:Adamts3	UTSW	5	89701771	missense	probably damaging	0.99
R2420:Adamts3	UTSW	5	89683175	missense	probably damaging	0.97
R2421:Adamts3	UTSW	5	89683175	missense	probably damaging	0.97
R2422:Adamts3	UTSW	5	89683175	missense	probably damaging	0.97
R2921:Adamts3	UTSW	5	89861534	missense	possibly damaging	0.90
R2922:Adamts3	UTSW	5	89861534	missense	possibly damaging	0.90
R2923:Adamts3	UTSW	5	89861534	missense	possibly damaging	0.90
R3402:Adamts3	UTSW	5	89701733	missense	probably benign	0.04
R3431:Adamts3	UTSW	5	89707453	splice site	probably benign
R3432:Adamts3	UTSW	5	89707453	splice site	probably benign
R3813:Adamts3	UTSW	5	89677926	missense	possibly damaging	0.67
R3816:Adamts3	UTSW	5	89705264	missense	probably damaging	0.99
R3905:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R3906:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R3907:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R3908:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R4557:Adamts3	UTSW	5	89700487	missense	probably benign	0.03
R4844:Adamts3	UTSW	5	89677816	missense	probably damaging	0.99
R4925:Adamts3	UTSW	5	89684323	missense	probably benign	0.01
R5097:Adamts3	UTSW	5	89693050	missense	probably damaging	0.97
R5100:Adamts3	UTSW	5	89708643	missense	probably damaging	1.00
R5237:Adamts3	UTSW	5	89775377	missense	probably benign
R5265:Adamts3	UTSW	5	89861552	missense	possibly damaging	0.91
R5322:Adamts3	UTSW	5	89707300	splice site	probably null
R5413:Adamts3	UTSW	5	89708767	missense	probably damaging	1.00
R5459:Adamts3	UTSW	5	89691473	splice site	probably null
R5738:Adamts3	UTSW	5	89708668	missense	probably damaging	1.00
R5979:Adamts3	UTSW	5	89861669	missense	probably damaging	0.96
R5992:Adamts3	UTSW	5	89691335	missense	probably damaging	1.00
R6364:Adamts3	UTSW	5	89721814	missense	possibly damaging	0.92
R6572:Adamts3	UTSW	5	89861609	missense	possibly damaging	0.87
R7098:Adamts3	UTSW	5	89861495	missense	probably damaging	1.00
R7172:Adamts3	UTSW	5	89883001	start gained	probably benign
R7263:Adamts3	UTSW	5	89677742	missense	probably benign	0.03
R7401:Adamts3	UTSW	5	89707450	critical splice acceptor site	probably null
R7599:Adamts3	UTSW	5	89861397	missense	probably benign	0.00
R7829:Adamts3	UTSW	5	89861490	missense	probably damaging	1.00
R7835:Adamts3	UTSW	5	89700440	missense	possibly damaging	0.70
R7892:Adamts3	UTSW	5	89861429	missense	probably benign	0.10
R7918:Adamts3	UTSW	5	89700440	missense	possibly damaging	0.70
R7975:Adamts3	UTSW	5	89861429	missense	probably benign	0.10
X0064:Adamts3	UTSW	5	89703042	missense	possibly damaging	0.75
Z1088:Adamts3	UTSW	5	89684449	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGCAGTACTTTCCATAGCCTC -3'
(R):5'- GGATACCTTTGTGCAGCAAATG -3'

Sequencing Primer
(F):5'- GCCTCTGTTTTTCCAAATGAGATG -3'
(R):5'- GCAAATGCCTATGGGTATCTTAAATC -3'

Posted On

2015-10-21