Incidental Mutation 'R9066:Vasp'
ID 689264
Institutional Source Beutler Lab
Gene Symbol Vasp
Ensembl Gene ENSMUSG00000030403
Gene Name vasodilator-stimulated phosphoprotein
Synonyms
MMRRC Submission 068891-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.579) question?
Stock # R9066 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 18990854-19005742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18998433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 80 (H80Q)
Ref Sequence ENSEMBL: ENSMUSP00000032561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032561]
AlphaFold P70460
Predicted Effect probably damaging
Transcript: ENSMUST00000032561
AA Change: H80Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032561
Gene: ENSMUSG00000030403
AA Change: H80Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (46/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,849,188 (GRCm39) T1858A probably damaging Het
Atp1a1 A G 3: 101,489,338 (GRCm39) I758T probably damaging Het
Atp2c1 T C 9: 105,330,845 (GRCm39) E225G probably damaging Het
Clec7a A C 6: 129,444,491 (GRCm39) S115A probably benign Het
Cnbd1 T C 4: 19,098,181 (GRCm39) T80A probably benign Het
Ctu1 A G 7: 43,326,019 (GRCm39) H226R possibly damaging Het
Dctn4 T C 18: 60,659,387 (GRCm39) F29L probably damaging Het
Dnajb2 A G 1: 75,217,874 (GRCm39) T169A Het
Efcab3 T A 11: 104,631,688 (GRCm39) probably benign Het
Esf1 A T 2: 139,990,693 (GRCm39) M597K probably benign Het
Fzd7 C T 1: 59,521,991 (GRCm39) probably benign Het
Gapvd1 C A 2: 34,617,297 (GRCm39) Q349H probably damaging Het
Garin5b T C 7: 4,773,518 (GRCm39) probably benign Het
Gata5 A G 2: 179,968,761 (GRCm39) F371S Het
Gm572 A T 4: 148,751,278 (GRCm39) Q217L possibly damaging Het
Igkv14-130 T A 6: 67,768,219 (GRCm39) M26K probably damaging Het
Jchain T G 5: 88,675,638 (GRCm39) M1L probably benign Het
Kcnj14 G A 7: 45,469,073 (GRCm39) T144M probably damaging Het
Kirrel2 C A 7: 30,153,454 (GRCm39) A302S probably damaging Het
Klhl29 C T 12: 5,260,114 (GRCm39) V35I probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lgi4 A C 7: 30,759,446 (GRCm39) M1L probably benign Het
Ncr1 A G 7: 4,347,552 (GRCm39) D276G probably benign Het
Nfatc3 T A 8: 106,825,782 (GRCm39) M619K probably benign Het
Nudcd1 A T 15: 44,243,588 (GRCm39) F441I probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or10a3n A T 7: 108,493,253 (GRCm39) Y125* probably null Het
Or8b12 T G 9: 37,657,871 (GRCm39) V147G possibly damaging Het
Pop1 A T 15: 34,516,060 (GRCm39) Q586L possibly damaging Het
Prss3b C T 6: 41,008,640 (GRCm39) G225R probably benign Het
Rcbtb1 T G 14: 59,462,206 (GRCm39) I279S possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Serpine3 A G 14: 62,929,555 (GRCm39) D401G probably damaging Het
Slc25a4 A G 8: 46,662,115 (GRCm39) V181A probably damaging Het
Slc26a2 T G 18: 61,335,130 (GRCm39) I108L probably benign Het
Slc27a5 A C 7: 12,722,530 (GRCm39) V648G possibly damaging Het
Slc2a7 T C 4: 150,250,872 (GRCm39) F431S probably damaging Het
Sox11 T C 12: 27,391,422 (GRCm39) H329R possibly damaging Het
Speg G A 1: 75,361,654 (GRCm39) G223R probably damaging Het
Synpo2 G A 3: 122,911,133 (GRCm39) H171Y possibly damaging Het
Tle6 G T 10: 81,430,212 (GRCm39) N323K possibly damaging Het
Ugt3a1 A T 15: 9,367,384 (GRCm39) M376L possibly damaging Het
Unc13d T C 11: 115,957,561 (GRCm39) K798R probably benign Het
Vmn2r28 T C 7: 5,491,596 (GRCm39) D217G probably damaging Het
Vps41 T C 13: 19,008,018 (GRCm39) S284P probably damaging Het
Zer1 A C 2: 30,000,686 (GRCm39) L245R probably damaging Het
Zfp516 G T 18: 82,973,964 (GRCm39) R54L probably damaging Het
Zfp868 T C 8: 70,064,292 (GRCm39) K348E 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
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
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'- AGAGTCTTGCTACATCATCCAGG -3'
(R):5'- CAAGATGCAGCCGGATCAGC -3'
Posted On 2021-11-19