Incidental Mutation 'R5122:Vasp'
ID393343
Institutional Source Beutler Lab
Gene Symbol Vasp
Ensembl Gene ENSMUSG00000030403
Gene Namevasodilator-stimulated phosphoprotein
Synonyms
MMRRC Submission 042710-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.503) question?
Stock #R5122 (G1)
Quality Score144
Status Not validated
Chromosome7
Chromosomal Location19256929-19271817 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 19264772 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 20 (N20S)
Ref Sequence ENSEMBL: ENSMUSP00000032561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032561]
Predicted Effect probably benign
Transcript: ENSMUST00000032561
AA Change: N20S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032561
Gene: ENSMUSG00000030403
AA Change: N20S

DomainStartEndE-ValueType
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: ENSMUST00000162717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206229
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,757 probably null Het
Acan T C 7: 79,100,661 S1727P probably damaging Het
Actr8 A T 14: 29,982,715 K57N possibly damaging Het
Bcan G T 3: 87,994,207 S396Y probably damaging Het
Bmp2k A G 5: 97,087,015 probably benign Het
Cd274 A G 19: 29,380,565 H219R possibly damaging Het
Cdc16 A T 8: 13,764,570 Y118F probably damaging Het
Cdc23 C A 18: 34,651,689 V7L unknown Het
Chchd3 T C 6: 32,968,305 R89G probably benign Het
Clstn2 C T 9: 97,461,421 V658M probably damaging Het
Cpt1b A G 15: 89,424,023 S160P probably benign Het
Crym T C 7: 120,195,495 N167S probably benign Het
Dhx16 T A 17: 35,883,310 Y438N probably damaging Het
Dnah12 A G 14: 26,718,000 R536G probably benign Het
Dnajc11 A G 4: 151,976,997 D382G possibly damaging Het
Dync1h1 G A 12: 110,629,680 G1547D probably damaging Het
Eml3 T A 19: 8,937,696 probably null Het
Ep400 G A 5: 110,668,170 P2799S probably damaging Het
Ephb6 T C 6: 41,613,404 V30A probably benign Het
Fam53b T A 7: 132,779,262 probably benign Het
Fcrl1 A G 3: 87,385,774 K246R probably benign Het
Focad G A 4: 88,407,365 probably null Het
Glipr1l2 T C 10: 112,107,056 I272T possibly damaging Het
Gm597 A G 1: 28,780,060 S47P probably benign Het
Gm8104 A G 14: 43,109,093 I101V probably benign Het
Grm5 A G 7: 88,074,820 I773V probably damaging Het
Hyal1 A T 9: 107,578,069 T193S probably benign Het
Igkv10-94 C A 6: 68,704,671 G62* probably null Het
Itsn1 A G 16: 91,893,844 probably benign Het
Kank4 A G 4: 98,756,567 S983P probably damaging Het
Krtap16-1 C A 11: 99,985,697 V294F probably damaging Het
Lama3 T G 18: 12,539,766 V866G possibly damaging Het
Lrba C T 3: 86,349,154 R1268* probably null Het
Lrriq1 C T 10: 103,187,453 V984I probably damaging Het
Macf1 A C 4: 123,452,292 V4136G probably damaging Het
Mdn1 A T 4: 32,670,593 E419D probably damaging Het
Nedd4l A G 18: 65,191,447 Y473C probably damaging Het
Nod2 G T 8: 88,664,120 D330Y probably damaging Het
Nt5c2 C T 19: 46,889,921 C458Y probably damaging Het
Numa1 T C 7: 102,013,769 I681T probably damaging Het
Olfr713 C A 7: 107,036,848 S231* probably null Het
Papolg C T 11: 23,867,501 probably null Het
Parn A G 16: 13,654,447 probably null Het
Pgap2 T C 7: 102,231,391 F42S probably damaging Het
Phf11d A T 14: 59,353,344 M188K possibly damaging Het
Pofut2 G C 10: 77,268,565 R392P probably damaging Het
Prpf18 T C 2: 4,643,709 D102G probably damaging Het
Rreb1 T A 13: 37,930,768 I701N probably benign Het
Slc26a5 T C 5: 21,847,196 K45R probably damaging Het
Slc8a3 A G 12: 81,314,258 probably null Het
Slf1 T A 13: 77,049,987 M723L probably benign Het
Sra1 T C 18: 36,667,594 T187A probably benign Het
Stk17b A C 1: 53,776,558 N27K probably damaging Het
Tbc1d9 T A 8: 83,236,543 Y295N probably damaging Het
Tubgcp6 A G 15: 89,116,103 V353A probably damaging Het
Unc80 A T 1: 66,679,590 T2991S possibly damaging Het
Urb1 G A 16: 90,752,095 R2242* probably null Het
Zfp263 A G 16: 3,749,855 H390R probably damaging Het
Other mutations in Vasp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Vasp APN 7 19257712 unclassified probably benign
IGL02496:Vasp APN 7 19258823 unclassified probably benign
IGL02542:Vasp APN 7 19264780 missense probably damaging 1.00
R1241:Vasp UTSW 7 19259033 unclassified probably benign
R1646:Vasp UTSW 7 19260978 unclassified probably benign
R4162:Vasp UTSW 7 19259472 splice site probably null
R4670:Vasp UTSW 7 19264425 missense probably benign 0.03
R4938:Vasp UTSW 7 19257717 makesense probably null
R5175:Vasp UTSW 7 19264669 missense probably benign 0.02
R5206:Vasp UTSW 7 19258855 unclassified probably benign
R5595:Vasp UTSW 7 19257891 unclassified probably benign
R7042:Vasp UTSW 7 19262021 missense probably benign 0.02
Z1176:Vasp UTSW 7 19264488 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GGCACAGTTGATAACCACCTAC -3'
(R):5'- ACTGTGGATTCAACCAAGGG -3'

Sequencing Primer
(F):5'- CCACCTACAAGAGAGAACAGGTTG -3'
(R):5'- GCTGGGCAAACACGCTACTATTG -3'
Posted On2016-06-15