Mutagenetix > Incidental Mutation

Incidental Mutation 'R5595:Vasp'

437769

Institutional Source

Beutler Lab

Gene Symbol

Vasp

Ensembl Gene

ENSMUSG00000030403

Gene Name

vasodilator-stimulated phosphoprotein

Synonyms

MMRRC Submission

043147-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R5595 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18990854-19005742 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 18991816 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: L354P

SMART Domains

Protein: ENSMUSP00000032561
Gene: ENSMUSG00000030403
AA Change: L354P

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,682,143 (GRCm39)	F991S	probably benign	Het
4931406B18Rik	A	G	7: 43,147,296 (GRCm39)	I218T	possibly damaging	Het
9930111J21Rik2	C	T	11: 48,910,538 (GRCm39)	A632T	possibly damaging	Het
Akt1	A	T	12: 112,625,050 (GRCm39)	L166Q	probably null	Het
Alpk2	A	T	18: 65,399,319 (GRCm39)	D2086E	probably damaging	Het
Ankrd11	A	T	8: 123,621,043 (GRCm39)	C915*	probably null	Het
Ankrd44	T	C	1: 54,801,506 (GRCm39)	T274A	probably damaging	Het
Ankrd44	A	T	1: 54,774,209 (GRCm39)	I398K	probably damaging	Het
Arhgef2	A	G	3: 88,550,283 (GRCm39)	T663A	probably benign	Het
Btbd16	G	A	7: 130,425,033 (GRCm39)	M471I	possibly damaging	Het
Btbd16	C	A	7: 130,425,034 (GRCm39)	Q472K	probably damaging	Het
Cdc37	G	A	9: 21,054,509 (GRCm39)	R39C	probably damaging	Het
Cnnm1	A	G	19: 43,453,596 (GRCm39)	N537S	possibly damaging	Het
Cop1	T	A	1: 159,077,643 (GRCm39)	D159E	probably benign	Het
Crtac1	C	T	19: 42,402,390 (GRCm39)	V73I	probably benign	Het
Cryz	T	A	3: 154,312,155 (GRCm39)	V84E	probably damaging	Het
Ctnnd2	C	T	15: 30,669,689 (GRCm39)	L433F	probably benign	Het
Ctsq	C	A	13: 61,184,874 (GRCm39)	D271Y	probably benign	Het
Cyp3a25	A	C	5: 145,931,673 (GRCm39)		probably null	Het
Dmbt1	G	C	7: 130,655,797 (GRCm39)	W412C	probably benign	Het
Eif4e1b	G	A	13: 54,934,529 (GRCm39)	V131I	possibly damaging	Het
Epha1	A	G	6: 42,341,568 (GRCm39)	V494A	possibly damaging	Het
Fbxl4	T	C	4: 22,433,641 (GRCm39)	S593P	probably damaging	Het
Fbxo41	G	A	6: 85,456,883 (GRCm39)	P429S	probably benign	Het
Fem1al	T	C	11: 29,774,288 (GRCm39)	N390D	probably benign	Het
Fgfr3	G	A	5: 33,887,347 (GRCm39)	C204Y	probably damaging	Het
Gbf1	T	C	19: 46,272,861 (GRCm39)	V1665A	possibly damaging	Het
Htt	T	A	5: 35,062,741 (GRCm39)	V2825E	probably damaging	Het
Irs1	A	T	1: 82,267,646 (GRCm39)	V190E	probably damaging	Het
Kics2	T	C	10: 121,576,052 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,878,161 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,747,905 (GRCm39)		probably benign	Het
Meox1	T	C	11: 101,770,169 (GRCm39)	E186G	probably damaging	Het
Micu2	G	A	14: 58,209,201 (GRCm39)	R86W	probably damaging	Het
Mrgprb1	A	T	7: 48,097,432 (GRCm39)	I160K	probably damaging	Het
Nckap1l	T	A	15: 103,384,085 (GRCm39)	M561K	possibly damaging	Het
Or4c104	A	T	2: 88,586,749 (GRCm39)	I90N	probably damaging	Het
Or52s6	A	T	7: 103,091,635 (GRCm39)	S232T	probably damaging	Het
Or56b35	A	T	7: 104,963,213 (GRCm39)	M1L	probably benign	Het
Otoa	T	A	7: 120,721,200 (GRCm39)	L405H	probably damaging	Het
Phyhip	A	T	14: 70,704,314 (GRCm39)	M178L	probably benign	Het
Pkd1l3	A	T	8: 110,382,152 (GRCm39)	N1630I	probably damaging	Het
Plek2	T	A	12: 78,940,883 (GRCm39)	T247S	probably benign	Het
Rhbdl3	T	C	11: 80,228,409 (GRCm39)	V293A	probably damaging	Het
Rock2	T	A	12: 16,992,810 (GRCm39)	F193Y	probably damaging	Het
Scn3a	C	T	2: 65,291,057 (GRCm39)	M1896I	probably benign	Het
Snrnp200	T	C	2: 127,067,933 (GRCm39)	V810A	probably damaging	Het
Taar4	G	A	10: 23,836,639 (GRCm39)	S83N	probably damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tec	T	A	5: 72,926,087 (GRCm39)	I322F	possibly damaging	Het
Teddm2	T	C	1: 153,726,146 (GRCm39)	I190V	probably benign	Het
Tmem117	A	G	15: 94,992,765 (GRCm39)	E475G	probably damaging	Het
Trip10	T	A	17: 57,569,460 (GRCm39)	Y495N	probably damaging	Het
Ush2a	T	C	1: 188,638,695 (GRCm39)	V4035A	possibly damaging	Het
Utrn	C	T	10: 12,558,062 (GRCm39)	V1466M	possibly damaging	Het
Vmn1r89	A	T	7: 12,953,857 (GRCm39)	M130L	possibly damaging	Het
Vmn2r2	A	T	3: 64,034,036 (GRCm39)	D495E	possibly damaging	Het
Zfp213	A	G	17: 23,780,160 (GRCm39)	V120A	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
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
R5206:Vasp	UTSW	7	18,992,780 (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'- GTCCCTGTAGTCAAGGAGAACC -3'
(R):5'- CTGTCCCTGAAATAAAGTGGACTG -3'

Sequencing Primer
(F):5'- GTAGTCAAGGAGAACCCCGCTTC -3'
(R):5'- AGCGACGTGTATGTATGTACCTCAC -3'

Posted On

2016-10-26