Mutagenetix > Incidental Mutation

Incidental Mutation 'R2001:Adamts13'

225888

Institutional Source

Beutler Lab

Gene Symbol

Adamts13

Ensembl Gene

ENSMUSG00000014852

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 13

Synonyms

vWF-CP mRNA for von Willebrand factor-cleaving, LOC279028

MMRRC Submission

040011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R2001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26863428-26899640 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26864002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 60 (P60L)

Ref Sequence

ENSEMBL: ENSMUSP00000099955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014996] [ENSMUST00000102891]

AlphaFold

Q769J6

Predicted Effect

probably benign
Transcript: ENSMUST00000014996
AA Change: P60L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: P60L

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Reprolysin_4	84	287	2.3e-11	PFAM
Pfam:Reprolysin	84	291	1e-15	PFAM
Pfam:Reprolysin_3	113	237	2e-10	PFAM
Pfam:Reprolysin_2	132	281	5e-9	PFAM
TSP1	392	444	3.29e-14	SMART
TSP1	693	748	7.01e0	SMART
TSP1	750	810	3.34e-6	SMART
TSP1	904	959	5.85e0	SMART
TSP1	961	1019	2.69e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102891
AA Change: P60L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: P60L

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Reprolysin_4	84	287	8.5e-11	PFAM
Pfam:Reprolysin	96	291	4.9e-14	PFAM
Pfam:Reprolysin_3	106	237	5.6e-11	PFAM
TSP1	392	444	3.29e-14	SMART
TSP1	693	748	7.01e0	SMART
TSP1	750	810	3.34e-6	SMART
TSP1	904	959	5.85e0	SMART
TSP1	961	1019	2.69e0	SMART
Blast:TSP1	1022	1079	4e-26	BLAST
TSP1	1081	1137	4.58e-4	SMART
Blast:CUB	1196	1293	2e-39	BLAST
Blast:CUB	1303	1412	3e-63	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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. In certain mouse strains (C57BL/6, for example) an intracisternal A-type particle (IAP) retrotransposon sequence is located in the intron 23 that causes an alternate splicing event resulting in a shorter transcript variants encoding shorter isoforms. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme that cleaves von Willebrand factor (VWF) in circulating blood. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,571,800 (GRCm39)	S559P	probably benign	Het
A430005L14Rik	T	A	4: 154,044,314 (GRCm39)	C42S	probably damaging	Het
Abca13	A	T	11: 9,223,967 (GRCm39)	T449S	probably benign	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Adamts20	T	C	15: 94,245,599 (GRCm39)	T568A	possibly damaging	Het
Ago1	T	C	4: 126,348,187 (GRCm39)	I44V	probably null	Het
Agtpbp1	TGAAGATGCATCTTGAGAAGA	TGAAGA	13: 59,623,617 (GRCm39)		probably null	Het
Ankrd28	A	T	14: 31,467,293 (GRCm39)	V39E	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Astn1	A	G	1: 158,348,091 (GRCm39)	N506D	probably damaging	Het
BC051019	G	A	7: 109,319,758 (GRCm39)	Q102*	probably null	Het
Bpifb5	A	G	2: 154,075,199 (GRCm39)	T376A	possibly damaging	Het
Ccdc121rt1	G	T	1: 181,338,551 (GRCm39)	Q134K	probably benign	Het
Ccl20	ATT	ATTT	1: 83,095,576 (GRCm39)		probably null	Het
Ccl6	G	T	11: 83,480,163 (GRCm39)	P68T	possibly damaging	Het
Cd300ld	A	T	11: 114,878,156 (GRCm39)	F119I	probably benign	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cemip2	A	G	19: 21,779,351 (GRCm39)	D387G	probably benign	Het
Chkb	C	T	15: 89,312,969 (GRCm39)	G36E	probably damaging	Het
Col11a1	A	G	3: 113,958,942 (GRCm39)		probably null	Het
Ctla2b	T	C	13: 61,043,881 (GRCm39)	Y120C	probably damaging	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Cyp2a22	G	A	7: 26,634,197 (GRCm39)	P319L	probably damaging	Het
Dcaf12	A	C	4: 41,302,804 (GRCm39)	V117G	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dgki	T	C	6: 36,842,736 (GRCm39)	D923G	possibly damaging	Het
Dhx37	G	T	5: 125,504,528 (GRCm39)	T345K	probably damaging	Het
Dhx9	A	T	1: 153,331,857 (GRCm39)	Y1370*	probably null	Het
Dnah7b	T	C	1: 46,181,247 (GRCm39)	S1045P	possibly damaging	Het
Dnmbp	G	C	19: 43,838,612 (GRCm39)	T1071S	possibly damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Dst	A	T	1: 34,223,144 (GRCm39)	E1625D	probably damaging	Het
Egflam	T	A	15: 7,272,048 (GRCm39)	H630L	probably benign	Het
Elane	T	C	10: 79,723,593 (GRCm39)	V186A	possibly damaging	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Get3	T	C	8: 85,751,789 (GRCm39)	S36G	probably damaging	Het
Gfra1	A	G	19: 58,288,707 (GRCm39)	L246P	probably damaging	Het
Gria2	T	C	3: 80,618,112 (GRCm39)	T308A	probably benign	Het
Grip2	A	T	6: 91,756,831 (GRCm39)	V540D	probably benign	Het
Hhipl1	A	T	12: 108,288,118 (GRCm39)	I575F	possibly damaging	Het
Hmcn1	T	A	1: 150,614,364 (GRCm39)	E1347D	possibly damaging	Het
Itga2b	C	A	11: 102,358,165 (GRCm39)	A187S	probably benign	Het
Kalrn	C	A	16: 33,848,415 (GRCm39)	R469M	probably damaging	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lck	T	C	4: 129,442,730 (GRCm39)	N475S	probably benign	Het
Leng8	A	G	7: 4,148,073 (GRCm39)	N642S	probably damaging	Het
Lingo4	T	A	3: 94,310,382 (GRCm39)	I440N	probably damaging	Het
Lrrc4	A	G	6: 28,830,904 (GRCm39)	F237S	probably damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Naip2	A	T	13: 100,281,096 (GRCm39)	I1316N	probably damaging	Het
Naip6	C	T	13: 100,437,237 (GRCm39)	G429S	probably benign	Het
Noct	C	T	3: 51,155,465 (GRCm39)	R78C	probably damaging	Het
Npbwr1	A	G	1: 5,987,394 (GRCm39)	V40A	possibly damaging	Het
Nsd2	A	G	5: 34,000,746 (GRCm39)	N88D	probably damaging	Het
Or1e29	T	A	11: 73,667,539 (GRCm39)	I205F	probably benign	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or6c210	T	A	10: 129,496,290 (GRCm39)	I205N	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pard3	C	T	8: 127,791,097 (GRCm39)		probably null	Het
Pde4c	A	G	8: 71,200,007 (GRCm39)		probably null	Het
Pde6h	T	A	6: 136,940,203 (GRCm39)	I63N	probably damaging	Het
Phldb2	T	C	16: 45,594,558 (GRCm39)	K916E	possibly damaging	Het
Ppig	T	C	2: 69,571,988 (GRCm39)	S236P	unknown	Het
Ptprd	T	C	4: 75,872,359 (GRCm39)	Y1370C	probably damaging	Het
Pzp	T	C	6: 128,493,083 (GRCm39)	T352A	probably benign	Het
Rab3gap1	A	G	1: 127,831,456 (GRCm39)	Y177C	possibly damaging	Het
Rasgef1a	G	A	6: 118,066,157 (GRCm39)	V457M	probably benign	Het
Scel	A	T	14: 103,848,226 (GRCm39)	T616S	possibly damaging	Het
Sel1l	A	T	12: 91,793,324 (GRCm39)	Y228*	probably null	Het
Sgms1	A	G	19: 32,137,083 (GRCm39)	V161A	possibly damaging	Het
Slfnl1	T	C	4: 120,390,424 (GRCm39)	L25P	probably benign	Het
Smad5	A	G	13: 56,885,187 (GRCm39)	T432A	probably damaging	Het
Sohlh2	T	C	3: 55,099,762 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,383 (GRCm39)	M835K	probably damaging	Het
Sqor	A	C	2: 122,640,018 (GRCm39)	T174P	probably damaging	Het
Stkld1	T	C	2: 26,842,759 (GRCm39)	V577A	probably damaging	Het
Sulf2	T	A	2: 165,922,773 (GRCm39)	E652D	probably benign	Het
Sycp2	T	A	2: 178,019,848 (GRCm39)	Q556L	probably benign	Het
Syk	A	G	13: 52,765,274 (GRCm39)	T134A	probably benign	Het
Tas2r122	T	A	6: 132,688,585 (GRCm39)	I103F	possibly damaging	Het
Tex10	A	G	4: 48,451,940 (GRCm39)	W729R	probably damaging	Het
Tex261	G	T	6: 83,750,713 (GRCm39)	P95T	probably damaging	Het
Tm2d2	T	C	8: 25,507,523 (GRCm39)	S47P	probably benign	Het
Tmem95	A	G	11: 69,767,817 (GRCm39)	S128P	probably damaging	Het
Tnxb	G	A	17: 34,911,553 (GRCm39)	A1619T	possibly damaging	Het
Trappc9	A	G	15: 72,929,885 (GRCm39)	I157T	probably damaging	Het
Unc13c	T	A	9: 73,390,897 (GRCm39)		probably null	Het
Upb1	A	T	10: 75,265,803 (GRCm39)	Y210F	probably damaging	Het
Urb1	T	C	16: 90,559,232 (GRCm39)	M1684V	probably benign	Het
Wnk2	G	A	13: 49,232,158 (GRCm39)	P727S	possibly damaging	Het
Zfp1004	T	A	2: 150,034,867 (GRCm39)	M396K	probably benign	Het
Zfp551	A	T	7: 12,150,276 (GRCm39)	S378T	probably damaging	Het
Zfp598	T	C	17: 24,888,898 (GRCm39)	V56A	possibly damaging	Het
Zfp945	C	T	17: 23,076,223 (GRCm39)		probably null	Het

Other mutations in Adamts13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Adamts13	APN	2	26,895,373 (GRCm39)	missense	probably benign	0.04
IGL00465:Adamts13	APN	2	26,863,567 (GRCm39)	missense	probably benign	0.32
IGL01114:Adamts13	APN	2	26,895,202 (GRCm39)	missense	probably benign	0.41
IGL01138:Adamts13	APN	2	26,873,054 (GRCm39)	missense	probably damaging	1.00
IGL01154:Adamts13	APN	2	26,896,206 (GRCm39)	missense	probably benign
IGL01860:Adamts13	APN	2	26,868,023 (GRCm39)	missense	probably damaging	0.99
IGL01924:Adamts13	APN	2	26,886,595 (GRCm39)	missense	possibly damaging	0.80
IGL01991:Adamts13	APN	2	26,880,610 (GRCm39)	missense	probably damaging	0.97
IGL02215:Adamts13	APN	2	26,875,495 (GRCm39)	missense	probably damaging	1.00
IGL02415:Adamts13	APN	2	26,879,295 (GRCm39)	missense	possibly damaging	0.95
IGL02519:Adamts13	APN	2	26,868,687 (GRCm39)	missense	probably damaging	1.00
IGL02956:Adamts13	APN	2	26,873,049 (GRCm39)	missense	probably benign	0.18
IGL03209:Adamts13	APN	2	26,882,973 (GRCm39)	missense	probably benign	0.00
I1329:Adamts13	UTSW	2	26,863,631 (GRCm39)	missense	possibly damaging	0.52
IGL02837:Adamts13	UTSW	2	26,881,432 (GRCm39)	missense	probably benign	0.01
IGL03048:Adamts13	UTSW	2	26,868,711 (GRCm39)	critical splice donor site	probably null
R0041:Adamts13	UTSW	2	26,873,986 (GRCm39)	missense	probably damaging	1.00
R0217:Adamts13	UTSW	2	26,886,933 (GRCm39)	splice site	probably benign
R0276:Adamts13	UTSW	2	26,865,772 (GRCm39)	missense	possibly damaging	0.91
R0309:Adamts13	UTSW	2	26,877,001 (GRCm39)	missense	probably damaging	0.99
R0348:Adamts13	UTSW	2	26,871,092 (GRCm39)	missense	probably benign	0.13
R0369:Adamts13	UTSW	2	26,895,198 (GRCm39)	missense	probably benign	0.00
R0386:Adamts13	UTSW	2	26,876,691 (GRCm39)	splice site	probably null
R0553:Adamts13	UTSW	2	26,881,346 (GRCm39)	nonsense	probably null
R0714:Adamts13	UTSW	2	26,876,997 (GRCm39)	splice site	probably benign
R0862:Adamts13	UTSW	2	26,896,336 (GRCm39)	critical splice donor site	probably null
R1320:Adamts13	UTSW	2	26,879,258 (GRCm39)	missense	probably damaging	0.97
R1458:Adamts13	UTSW	2	26,878,366 (GRCm39)	missense	probably damaging	1.00
R1473:Adamts13	UTSW	2	26,871,765 (GRCm39)	nonsense	probably null
R1491:Adamts13	UTSW	2	26,868,327 (GRCm39)	missense	probably damaging	1.00
R1588:Adamts13	UTSW	2	26,865,687 (GRCm39)	missense	probably benign	0.01
R1638:Adamts13	UTSW	2	26,886,595 (GRCm39)	missense	possibly damaging	0.80
R1724:Adamts13	UTSW	2	26,881,306 (GRCm39)	missense	probably benign	0.00
R1924:Adamts13	UTSW	2	26,874,153 (GRCm39)	missense	probably damaging	1.00
R2072:Adamts13	UTSW	2	26,895,437 (GRCm39)	missense	probably benign	0.10
R2073:Adamts13	UTSW	2	26,896,326 (GRCm39)	missense	probably damaging	1.00
R2409:Adamts13	UTSW	2	26,868,374 (GRCm39)	missense	probably benign	0.00
R4362:Adamts13	UTSW	2	26,894,794 (GRCm39)	missense	probably damaging	1.00
R4363:Adamts13	UTSW	2	26,894,794 (GRCm39)	missense	probably damaging	1.00
R4422:Adamts13	UTSW	2	26,895,412 (GRCm39)	missense	probably benign	0.00
R4769:Adamts13	UTSW	2	26,898,723 (GRCm39)	nonsense	probably null
R4785:Adamts13	UTSW	2	26,873,054 (GRCm39)	missense	probably damaging	1.00
R4831:Adamts13	UTSW	2	26,873,142 (GRCm39)	critical splice donor site	probably null
R4832:Adamts13	UTSW	2	26,879,414 (GRCm39)	missense	probably benign	0.22
R4945:Adamts13	UTSW	2	26,876,622 (GRCm39)	missense	probably damaging	1.00
R5047:Adamts13	UTSW	2	26,886,922 (GRCm39)	missense	probably damaging	0.98
R5126:Adamts13	UTSW	2	26,886,927 (GRCm39)	critical splice donor site	probably null
R5161:Adamts13	UTSW	2	26,883,020 (GRCm39)	missense	probably benign	0.00
R5394:Adamts13	UTSW	2	26,876,570 (GRCm39)	missense	probably benign	0.00
R5557:Adamts13	UTSW	2	26,863,651 (GRCm39)	missense	probably benign	0.05
R5660:Adamts13	UTSW	2	26,886,761 (GRCm39)	missense	probably benign
R5890:Adamts13	UTSW	2	26,876,603 (GRCm39)	missense	probably damaging	0.96
R6168:Adamts13	UTSW	2	26,894,898 (GRCm39)	missense	probably benign	0.37
R6536:Adamts13	UTSW	2	26,865,762 (GRCm39)	missense	probably damaging	0.99
R6929:Adamts13	UTSW	2	26,896,275 (GRCm39)	nonsense	probably null
R7207:Adamts13	UTSW	2	26,868,707 (GRCm39)	missense	probably damaging	1.00
R7211:Adamts13	UTSW	2	26,879,310 (GRCm39)	missense	probably benign	0.40
R7212:Adamts13	UTSW	2	26,896,326 (GRCm39)	missense	probably damaging	1.00
R7392:Adamts13	UTSW	2	26,879,336 (GRCm39)	missense	probably damaging	1.00
R7583:Adamts13	UTSW	2	26,863,965 (GRCm39)	missense	probably benign
R7604:Adamts13	UTSW	2	26,895,218 (GRCm39)	missense	probably benign	0.00
R7783:Adamts13	UTSW	2	26,880,597 (GRCm39)	missense	not run
R7814:Adamts13	UTSW	2	26,886,561 (GRCm39)	missense	probably benign
R8076:Adamts13	UTSW	2	26,880,624 (GRCm39)	missense	probably benign	0.06
R8245:Adamts13	UTSW	2	26,880,568 (GRCm39)	missense	probably damaging	1.00
R8526:Adamts13	UTSW	2	26,868,012 (GRCm39)	missense	probably benign
R9112:Adamts13	UTSW	2	26,880,379 (GRCm39)	missense	possibly damaging	0.60
R9147:Adamts13	UTSW	2	26,883,024 (GRCm39)	missense	probably benign
R9148:Adamts13	UTSW	2	26,883,024 (GRCm39)	missense	probably benign
R9704:Adamts13	UTSW	2	26,895,237 (GRCm39)	missense
R9743:Adamts13	UTSW	2	26,895,491 (GRCm39)	critical splice donor site	probably null
R9743:Adamts13	UTSW	2	26,886,812 (GRCm39)	missense	probably benign	0.16
X0027:Adamts13	UTSW	2	26,875,558 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGACTGATCTTCCCTGCCTAG -3'
(R):5'- TGTGACGCTGAACAGAAGC -3'

Sequencing Primer
(F):5'- GGCACTGCCCCTCATGC -3'
(R):5'- CTATTATCAAGTTGGCAGGAAGC -3'

Posted On

2014-08-25