Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Vasp'

295834

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vasp

Ensembl Gene

ENSMUSG00000030403

Gene Name

vasodilator-stimulated phosphoprotein

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

18990854-19005742 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 18992748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032561] [ENSMUST00000161711]

AlphaFold

P70460

Predicted Effect

unknown
Transcript: ENSMUST00000032561
AA Change: D338Y

SMART Domains

Protein: ENSMUSP00000032561
Gene: ENSMUSG00000030403
AA Change: D338Y

Domain	Start	End	E-Value	Type
WH1	1	110	1.14e-46	SMART
low complexity region	155	183	N/A	INTRINSIC
low complexity region	185	229	N/A	INTRINSIC
Pfam:VASP_tetra	336	372	6.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161488

Predicted Effect

probably benign
Transcript: ENSMUST00000161711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206229

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit hyperplasia of megakaryocytes, and mutant platelets activated by thrombin display two-fold higher surface expression of P-selectin and fibrinogen binding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,327,712 (GRCm39)	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,324,578 (GRCm39)	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,078,512 (GRCm39)	R44Q	probably benign	Het
Amigo2	A	T	15: 97,143,494 (GRCm39)	C309*	probably null	Het
Ccdc88c	A	C	12: 100,919,552 (GRCm39)	S446A	probably benign	Het
Cd9	A	T	6: 125,449,458 (GRCm39)	V28E	probably damaging	Het
Cops2	A	T	2: 125,678,163 (GRCm39)		probably benign	Het
Csn1s1	C	T	5: 87,825,453 (GRCm39)		probably benign	Het
Cul9	G	T	17: 46,851,302 (GRCm39)	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,126,640 (GRCm39)	H1457N	probably damaging	Het
Dennd2b	C	A	7: 109,155,442 (GRCm39)	R436L	possibly damaging	Het
Dnah9	A	G	11: 65,920,189 (GRCm39)	S2235P	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883 (GRCm39)	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919 (GRCm38)		probably benign	Het
Flnc	G	T	6: 29,440,684 (GRCm39)	V301L	probably damaging	Het
Hfm1	T	C	5: 107,049,627 (GRCm39)	S445G	probably benign	Het
Hif3a	A	G	7: 16,773,603 (GRCm39)		probably benign	Het
Hsd17b4	T	C	18: 50,288,220 (GRCm39)	Y217H	probably damaging	Het
Iba57	T	C	11: 59,049,772 (GRCm39)	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,703,671 (GRCm39)	I78N	probably damaging	Het
Inhbe	A	T	10: 127,186,797 (GRCm39)	W128R	probably damaging	Het
Ism1	T	C	2: 139,599,121 (GRCm39)	C365R	probably damaging	Het
Kif19a	A	T	11: 114,670,470 (GRCm39)	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,755,439 (GRCm39)		probably benign	Het
Mmp20	A	G	9: 7,654,042 (GRCm39)	R321G	probably damaging	Het
Msl2	T	C	9: 100,977,854 (GRCm39)	M76T	possibly damaging	Het
Nme9	T	C	9: 99,351,684 (GRCm39)	C223R	probably damaging	Het
Nucb1	G	T	7: 45,144,467 (GRCm39)		probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or13a18	A	C	7: 140,190,081 (GRCm39)	M1L	probably benign	Het
Or5b98	T	A	19: 12,931,556 (GRCm39)	I201N	possibly damaging	Het
Or6b1	A	C	6: 42,815,738 (GRCm39)	I308L	probably benign	Het
P4ha1	A	G	10: 59,206,824 (GRCm39)		probably null	Het
Parp8	T	C	13: 116,998,838 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,468,507 (GRCm39)	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,303,535 (GRCm39)	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,489,147 (GRCm39)	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,171,716 (GRCm39)	I103V	probably benign	Het
Plscr3	C	A	11: 69,738,209 (GRCm39)		probably benign	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prr36	C	A	8: 4,266,407 (GRCm39)	E48*	probably null	Het
Ptgir	G	A	7: 16,641,409 (GRCm39)	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,901,070 (GRCm39)	V219E	probably benign	Het
Rab39b	T	A	X: 74,618,609 (GRCm39)	I74F	probably damaging	Het
Rasal2	A	T	1: 156,977,449 (GRCm39)	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,750,885 (GRCm39)	A20T	probably null	Het
Serpinb10	A	C	1: 107,466,155 (GRCm39)		probably null	Het
Sipa1l1	T	A	12: 82,471,868 (GRCm39)	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,528,468 (GRCm39)	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,559,599 (GRCm39)	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,659,247 (GRCm39)	H691L	probably damaging	Het
Smo	A	C	6: 29,758,480 (GRCm39)	T542P	probably damaging	Het
Spats2	T	A	15: 99,071,329 (GRCm39)	I51N	probably damaging	Het
Spon1	G	T	7: 113,635,897 (GRCm39)	V704L	probably benign	Het
Tex9	T	A	9: 72,389,774 (GRCm39)	Q112L	probably benign	Het
Tgfbr2	T	C	9: 115,919,486 (GRCm39)	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335 (GRCm38)	V141E	probably benign	Het
Trhde	A	T	10: 114,636,466 (GRCm39)	L247*	probably null	Het
Umodl1	G	T	17: 31,217,628 (GRCm39)	V1145F	probably damaging	Het
Vmn1r8	G	T	6: 57,013,556 (GRCm39)	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,787,837 (GRCm39)	T505A	probably benign	Het
Wdr27	A	G	17: 15,112,693 (GRCm39)		probably benign	Het
Wfdc1	T	G	8: 120,406,909 (GRCm39)	V109G	probably damaging	Het
Zan	C	A	5: 137,463,056 (GRCm39)	E708*	probably null	Het
Zbtb1	T	A	12: 76,432,169 (GRCm39)	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,648,117 (GRCm39)	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,757,113 (GRCm39)	S349P	probably damaging	Het
Znfx1	A	T	2: 166,889,550 (GRCm39)	C731S	possibly damaging	Het

Other mutations in Vasp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:Vasp	APN	7	18,991,637 (GRCm39)	unclassified	probably benign
IGL02542:Vasp	APN	7	18,998,705 (GRCm39)	missense	probably damaging	1.00
R1241:Vasp	UTSW	7	18,992,958 (GRCm39)	unclassified	probably benign
R1646:Vasp	UTSW	7	18,994,903 (GRCm39)	unclassified	probably benign
R4162:Vasp	UTSW	7	18,993,397 (GRCm39)	splice site	probably null
R4670:Vasp	UTSW	7	18,998,350 (GRCm39)	missense	probably benign	0.03
R4938:Vasp	UTSW	7	18,991,642 (GRCm39)	makesense	probably null
R5122:Vasp	UTSW	7	18,998,697 (GRCm39)	missense	probably benign	0.04
R5175:Vasp	UTSW	7	18,998,594 (GRCm39)	missense	probably benign	0.02
R5206:Vasp	UTSW	7	18,992,780 (GRCm39)	unclassified	probably benign
R5595:Vasp	UTSW	7	18,991,816 (GRCm39)	unclassified	probably benign
R7042:Vasp	UTSW	7	18,995,946 (GRCm39)	missense	probably benign	0.02
R8797:Vasp	UTSW	7	18,994,563 (GRCm39)	missense	unknown
R9066:Vasp	UTSW	7	18,998,433 (GRCm39)	missense	probably damaging	1.00
R9264:Vasp	UTSW	7	18,993,376 (GRCm39)	missense	unknown
Z1176:Vasp	UTSW	7	18,998,413 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16