Incidental Mutation 'R5122:Vasp'
ID 393343
Institutional Source Beutler Lab
Gene Symbol Vasp
Ensembl Gene ENSMUSG00000030403
Gene Name vasodilator-stimulated phosphoprotein
Synonyms
MMRRC Submission 042710-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.579) question?
Stock # R5122 (G1)
Quality Score 144
Status Not validated
Chromosome 7
Chromosomal Location 18990854-19005742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18998697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 20 (N20S)
Ref Sequence ENSEMBL: ENSMUSP00000032561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032561]
AlphaFold P70460
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
Acan T C 7: 78,750,409 (GRCm39) S1727P probably damaging Het
Actr8 A T 14: 29,704,672 (GRCm39) K57N possibly damaging Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Bltp1 A G 3: 37,088,906 (GRCm39) probably null Het
Bmp2k A G 5: 97,234,874 (GRCm39) probably benign Het
Cd274 A G 19: 29,357,965 (GRCm39) H219R possibly damaging Het
Cdc16 A T 8: 13,814,570 (GRCm39) Y118F probably damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Chchd3 T C 6: 32,945,240 (GRCm39) R89G probably benign Het
Clstn2 C T 9: 97,343,474 (GRCm39) V658M probably damaging Het
Cpt1b A G 15: 89,308,226 (GRCm39) S160P probably benign Het
Crym T C 7: 119,794,718 (GRCm39) N167S probably benign Het
Dhx16 T A 17: 36,194,202 (GRCm39) Y438N probably damaging Het
Dnah12 A G 14: 26,439,155 (GRCm39) R536G probably benign Het
Dnajc11 A G 4: 152,061,454 (GRCm39) D382G possibly damaging Het
Dync1h1 G A 12: 110,596,114 (GRCm39) G1547D probably damaging Het
Eml3 T A 19: 8,915,060 (GRCm39) probably null Het
Ep400 G A 5: 110,816,036 (GRCm39) P2799S probably damaging Het
Ephb6 T C 6: 41,590,338 (GRCm39) V30A probably benign Het
Fam53b T A 7: 132,380,991 (GRCm39) probably benign Het
Fcrl1 A G 3: 87,293,081 (GRCm39) K246R probably benign Het
Focad G A 4: 88,325,602 (GRCm39) probably null Het
Glipr1l2 T C 10: 111,942,961 (GRCm39) I272T possibly damaging Het
Gm8104 A G 14: 42,966,550 (GRCm39) I101V probably benign Het
Grm5 A G 7: 87,724,028 (GRCm39) I773V probably damaging Het
Hyal1 A T 9: 107,455,268 (GRCm39) T193S probably benign Het
Igkv10-94 C A 6: 68,681,655 (GRCm39) G62* probably null Het
Itsn1 A G 16: 91,690,732 (GRCm39) probably benign Het
Kank4 A G 4: 98,644,804 (GRCm39) S983P probably damaging Het
Krtap16-1 C A 11: 99,876,523 (GRCm39) V294F probably damaging Het
Lama3 T G 18: 12,672,823 (GRCm39) V866G possibly damaging Het
Lrba C T 3: 86,256,461 (GRCm39) R1268* probably null Het
Lrriq1 C T 10: 103,023,314 (GRCm39) V984I probably damaging Het
Macf1 A C 4: 123,346,085 (GRCm39) V4136G probably damaging Het
Mdn1 A T 4: 32,670,593 (GRCm39) E419D probably damaging Het
Nedd4l A G 18: 65,324,518 (GRCm39) Y473C probably damaging Het
Nod2 G T 8: 89,390,748 (GRCm39) D330Y probably damaging Het
Nt5c2 C T 19: 46,878,360 (GRCm39) C458Y probably damaging Het
Numa1 T C 7: 101,662,976 (GRCm39) I681T probably damaging Het
Or10a5 C A 7: 106,636,055 (GRCm39) S231* probably null Het
Papolg C T 11: 23,817,501 (GRCm39) probably null Het
Parn A G 16: 13,472,311 (GRCm39) probably null Het
Pgap2 T C 7: 101,880,598 (GRCm39) F42S probably damaging Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Pofut2 G C 10: 77,104,399 (GRCm39) R392P probably damaging Het
Prpf18 T C 2: 4,648,520 (GRCm39) D102G probably damaging Het
Rreb1 T A 13: 38,114,744 (GRCm39) I701N probably benign Het
Slc26a5 T C 5: 22,052,194 (GRCm39) K45R probably damaging Het
Slc8a3 A G 12: 81,361,032 (GRCm39) probably null Het
Slf1 T A 13: 77,198,106 (GRCm39) M723L probably benign Het
Spata31e5 A G 1: 28,819,141 (GRCm39) S47P probably benign Het
Sra1 T C 18: 36,800,647 (GRCm39) T187A probably benign Het
Stk17b A C 1: 53,815,717 (GRCm39) N27K probably damaging Het
Tbc1d9 T A 8: 83,963,172 (GRCm39) Y295N probably damaging Het
Tubgcp6 A G 15: 89,000,306 (GRCm39) V353A probably damaging Het
Unc80 A T 1: 66,718,749 (GRCm39) T2991S possibly damaging Het
Urb1 G A 16: 90,548,983 (GRCm39) R2242* probably null Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R probably damaging Het
Other mutations in Vasp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGCACAGTTGATAACCACCTAC -3'
(R):5'- ACTGTGGATTCAACCAAGGG -3'

Sequencing Primer
(F):5'- CCACCTACAAGAGAGAACAGGTTG -3'
(R):5'- GCTGGGCAAACACGCTACTATTG -3'
Posted On 2016-06-15