Mutagenetix > Incidental Mutation

Incidental Mutation 'R4670:Vasp'

348357

Institutional Source

Beutler Lab

Gene Symbol

Vasp

Ensembl Gene

ENSMUSG00000030403

Gene Name

vasodilator-stimulated phosphoprotein

Synonyms

MMRRC Submission

041926-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

R4670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18990854-19005742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18998350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 108 (N108S)

Ref Sequence

ENSEMBL: ENSMUSP00000032561 (fasta)

Gene Model

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

AlphaFold

P70460

Predicted Effect

probably benign
Transcript: ENSMUST00000032561
AA Change: N108S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032561
Gene: ENSMUSG00000030403
AA Change: N108S

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: ENSMUST00000162717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206229

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (69/71)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,130,983 (GRCm39)		probably null	Het
Alb	T	A	5: 90,610,665 (GRCm39)	S82T	probably benign	Het
Arf4	A	G	14: 26,374,248 (GRCm39)		probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Arhgap32	A	G	9: 32,081,441 (GRCm39)	E153G	probably benign	Het
Arhgef18	T	A	8: 3,484,897 (GRCm39)	M200K	probably damaging	Het
Atp1a4	T	A	1: 172,062,567 (GRCm39)	N647Y	probably benign	Het
Atp5f1c	A	T	2: 10,064,428 (GRCm39)	L226Q	probably damaging	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cadm3	T	A	1: 173,174,013 (GRCm39)	T67S	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Chst7	C	A	X: 19,927,110 (GRCm39)	R386S	probably damaging	Het
Cyp4f37	A	T	17: 32,844,126 (GRCm39)	M77L	probably benign	Het
Dnah7b	A	T	1: 46,117,684 (GRCm39)	D50V	probably damaging	Het
Galnt4	A	G	10: 98,945,160 (GRCm39)	D295G	possibly damaging	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm6471	G	A	7: 142,385,360 (GRCm39)		noncoding transcript	Het
Gm6818	T	A	7: 38,101,981 (GRCm39)		noncoding transcript	Het
Gm9271	T	A	7: 39,013,734 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Ift140	C	A	17: 25,317,935 (GRCm39)		probably benign	Het
Itih5	A	C	2: 10,195,180 (GRCm39)	I191L	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kank1	T	C	19: 25,387,944 (GRCm39)	M511T	probably benign	Het
Krt74	A	T	15: 101,667,304 (GRCm39)		noncoding transcript	Het
Lrrc37a	A	G	11: 103,395,363 (GRCm39)	S21P	probably benign	Het
Lrrc8c	G	A	5: 105,756,240 (GRCm39)	V672I	probably benign	Het
Lypd4	T	C	7: 24,566,151 (GRCm39)	R58G	probably benign	Het
Magi1	A	T	6: 93,663,624 (GRCm39)		probably null	Het
Mefv	T	A	16: 3,526,071 (GRCm39)	L745F	possibly damaging	Het
Myh13	A	T	11: 67,255,564 (GRCm39)	K1645*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,171,382 (GRCm39)		noncoding transcript	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or51aa2	A	G	7: 103,188,393 (GRCm39)	V16A	possibly damaging	Het
Or6k6	T	A	1: 173,945,427 (GRCm39)	M52L	probably benign	Het
Or8k37	T	C	2: 86,469,512 (GRCm39)	D180G	possibly damaging	Het
P2ry12	T	C	3: 59,125,325 (GRCm39)		probably null	Het
Pcx	T	A	19: 4,669,916 (GRCm39)	V861E	probably damaging	Het
Pkp3	C	T	7: 140,662,612 (GRCm39)	P75S	probably benign	Het
Plscr4	T	C	9: 92,364,920 (GRCm39)		probably null	Het
Pole	A	G	5: 110,454,253 (GRCm39)	T923A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rhot2	A	C	17: 26,060,305 (GRCm39)		probably benign	Het
Rsrp1	A	G	4: 134,651,488 (GRCm39)	Y84C	unknown	Het
Sbf2	T	C	7: 109,934,606 (GRCm39)	K1348E	probably damaging	Het
Sgip1	A	T	4: 102,726,951 (GRCm39)	N53Y	probably damaging	Het
Snapc2	A	G	8: 4,304,998 (GRCm39)	T127A	possibly damaging	Het
Snx8	A	G	5: 140,341,713 (GRCm39)		probably null	Het
Spag8	A	G	4: 43,653,378 (GRCm39)		probably benign	Het
Srebf2	T	C	15: 82,076,503 (GRCm39)	F718L	probably damaging	Het
Szt2	C	G	4: 118,233,026 (GRCm39)		probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Tubgcp4	T	A	2: 121,004,146 (GRCm39)	Y62*	probably null	Het
Usp29	T	A	7: 6,965,914 (GRCm39)	S586T	possibly damaging	Het
Vmn1r214	A	G	13: 23,219,141 (GRCm39)	M212V	probably benign	Het
Wipi2	G	C	5: 142,645,345 (GRCm39)	A194P	probably benign	Het
Zbtb4	T	A	11: 69,667,355 (GRCm39)	I220N	probably damaging	Het
Zcchc2	A	T	1: 105,917,996 (GRCm39)		probably benign	Het
Zfp729a	T	A	13: 67,769,534 (GRCm39)	K232*	probably null	Het
Zfp995	A	T	17: 22,106,320 (GRCm39)	M1K	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CATACAGATCTATGTTCCCAGTCC -3'
(R):5'- AGTTGTTGGCCGCAAGATG -3'

Sequencing Primer
(F):5'- GTTCCCAGTCCCAATTTTATTTACG -3'
(R):5'- CAAGATGCAGCCGGATCAGC -3'

Posted On

2015-10-08