Mutagenetix > Incidental Mutation

Incidental Mutation 'R5206:Vasp'

402030

Institutional Source

Beutler Lab

Gene Symbol

Vasp

Ensembl Gene

ENSMUSG00000030403

Gene Name

vasodilator-stimulated phosphoprotein

Synonyms

MMRRC Submission

042781-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R5206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18990854-19005742 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 18992780 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: H327R

SMART Domains

Protein: ENSMUSP00000032561
Gene: ENSMUSG00000030403
AA Change: H327R

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,272 (GRCm39)	E487G	probably benign	Het
2610021A01Rik	A	T	7: 41,276,009 (GRCm39)	K571*	probably null	Het
A2m	T	C	6: 121,651,766 (GRCm39)	V1278A	probably damaging	Het
Abcc2	T	C	19: 43,806,589 (GRCm39)	V801A	probably damaging	Het
Acod1	T	A	14: 103,292,731 (GRCm39)	D418E	possibly damaging	Het
Bsn	G	A	9: 107,982,572 (GRCm39)	A3727V	unknown	Het
Cmah	T	G	13: 24,648,267 (GRCm39)	F501V	probably damaging	Het
Csf2rb2	T	A	15: 78,176,952 (GRCm39)	I173L	probably benign	Het
Dnah12	T	C	14: 26,491,942 (GRCm39)	W1126R	probably damaging	Het
Dock5	G	T	14: 68,000,633 (GRCm39)	A1690E	probably benign	Het
Dop1b	T	C	16: 93,598,472 (GRCm39)	L1879P	probably damaging	Het
Eif3j2	A	T	18: 43,610,647 (GRCm39)	D55E	probably benign	Het
Fam83f	G	A	15: 80,576,255 (GRCm39)	G302D	possibly damaging	Het
Fus	G	A	7: 127,568,969 (GRCm39)	G40D	unknown	Het
Glrp1	GTGCTGCTGCTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTGCTGCTGCTG	1: 88,430,997 (GRCm39)		probably benign	Het
Gxylt2	T	C	6: 100,781,576 (GRCm39)	V417A	probably damaging	Het
Hhipl1	G	A	12: 108,278,437 (GRCm39)	R255H	probably damaging	Het
Ints8	A	T	4: 11,216,477 (GRCm39)	I838N	possibly damaging	Het
Lama5	C	A	2: 179,833,097 (GRCm39)	C1579F	probably damaging	Het
Med13	C	T	11: 86,210,705 (GRCm39)	R479H	probably damaging	Het
Or51ag1	A	T	7: 103,155,309 (GRCm39)	Y281*	probably null	Het
Or5b113	G	T	19: 13,342,429 (GRCm39)	G146C	possibly damaging	Het
Or5k15	G	T	16: 58,710,381 (GRCm39)	N67K	probably damaging	Het
Or6e1	T	A	14: 54,520,155 (GRCm39)	M66L	probably benign	Het
Or9g3	T	A	2: 85,589,967 (GRCm39)	Y251F	probably benign	Het
Pak6	A	G	2: 118,523,784 (GRCm39)	E313G	probably benign	Het
Pigs	T	A	11: 78,224,549 (GRCm39)	Y145N	probably damaging	Het
Pla2g2f	T	A	4: 138,479,662 (GRCm39)	D165V	probably benign	Het
Plbd1	C	T	6: 136,618,154 (GRCm39)	V133M	probably benign	Het
Ppp1r14bl	C	T	1: 23,141,183 (GRCm39)	G44R	probably benign	Het
Ryr3	T	C	2: 112,675,056 (GRCm39)	Y1352C	probably damaging	Het
Scamp1	C	T	13: 94,368,615 (GRCm39)	R51H	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slc2a2	G	A	3: 28,762,756 (GRCm39)	V100M	probably damaging	Het
Slc38a10	C	G	11: 119,995,888 (GRCm39)	A1062P	probably damaging	Het
Snai1	T	C	2: 167,380,888 (GRCm39)	I127T	probably benign	Het
Stat4	G	A	1: 52,144,395 (GRCm39)	G692D	probably damaging	Het
Stc1	A	T	14: 69,269,048 (GRCm39)	D72V	probably damaging	Het
Tmc1	T	C	19: 20,804,024 (GRCm39)	N351S	probably damaging	Het
Trim28	A	G	7: 12,759,275 (GRCm39)	I130V	probably benign	Het
Trim39	A	G	17: 36,571,382 (GRCm39)	Y459H	probably damaging	Het
Ugt1a6b	C	A	1: 88,035,170 (GRCm39)	Y169*	probably null	Het
Vmn2r99	G	T	17: 19,598,868 (GRCm39)	G184V	probably benign	Het
Xrcc1	C	T	7: 24,266,988 (GRCm39)	T358I	probably damaging	Het
Zfp219	A	G	14: 52,247,022 (GRCm39)	V35A	probably benign	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
IGL02496:Vasp	APN	7	18,992,748 (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
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

Predicted Primers

PCR Primer
(F):5'- ACTGAGGATTCTGGGGACTCAG -3'
(R):5'- CAGAACCTGTGAGAAGACCC -3'

Sequencing Primer
(F):5'- CGGTCTGCTATAGCTACTGGGAAAG -3'
(R):5'- CCTGTGAGAAGACCCTGGGAG -3'

Posted On

2016-07-22