Incidental Mutation 'R0833:Vav3'
ID 77615
Institutional Source Beutler Lab
Gene Symbol Vav3
Ensembl Gene ENSMUSG00000033721
Gene Name vav 3 oncogene
Synonyms A530094I06Rik, Idd18.1
MMRRC Submission 039012-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R0833 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 109247969-109593014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109554995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 81 (N81S)
Ref Sequence ENSEMBL: ENSMUSP00000102186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046864] [ENSMUST00000106576]
AlphaFold Q9R0C8
Predicted Effect possibly damaging
Transcript: ENSMUST00000046864
AA Change: N641S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036270
Gene: ENSMUSG00000033721
AA Change: N641S

DomainStartEndE-ValueType
CH 3 115 2.1e-18 SMART
low complexity region 160 175 N/A INTRINSIC
RhoGEF 196 370 5.09e-56 SMART
PH 401 504 1.88e-9 SMART
C1 514 562 2.17e-11 SMART
SH3 595 659 6.4e-6 SMART
SH2 670 752 2.59e-26 SMART
SH3 791 847 8.96e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106576
AA Change: N81S

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102186
Gene: ENSMUSG00000033721
AA Change: N81S

DomainStartEndE-ValueType
SH3 35 99 3.8e-8 SMART
SH2 110 192 1.6e-28 SMART
SH3 233 289 5.5e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148866
SMART Domains Protein: ENSMUSP00000121660
Gene: ENSMUSG00000033721

DomainStartEndE-ValueType
SH2 33 115 2.59e-26 SMART
PDB:2KBT|A 149 179 6e-6 PDB
Blast:SH3 154 179 2e-10 BLAST
Meta Mutation Damage Score 0.1090 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (97/97)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in tachycardia, systemic arterial hypertension, cardiovascular remodeling, hyperactivity of sympathetic neurons and thus high catecholamine levels, and increased levels of kidney-related hormones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,931 (GRCm39) L41P probably damaging Het
3110082I17Rik A G 5: 139,349,875 (GRCm39) V58A possibly damaging Het
4932415M13Rik A T 17: 54,031,374 (GRCm39) noncoding transcript Het
Aldh1a7 C T 19: 20,679,607 (GRCm39) V390M probably damaging Het
Alg14 A G 3: 121,092,259 (GRCm39) H34R probably damaging Het
Ankrd27 A G 7: 35,307,772 (GRCm39) N337S probably damaging Het
Apoa2 T A 1: 171,052,948 (GRCm39) probably benign Het
Arl2 T G 19: 6,186,052 (GRCm39) K126T probably damaging Het
Ascc3 T C 10: 50,721,762 (GRCm39) W2072R probably benign Het
Astl T C 2: 127,184,339 (GRCm39) F21L probably benign Het
Asxl3 A G 18: 22,649,097 (GRCm39) D362G probably damaging Het
Bdp1 A T 13: 100,172,333 (GRCm39) H2094Q probably benign Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccdc85a T A 11: 28,533,296 (GRCm39) I83F probably damaging Het
Ccnt2 T A 1: 127,730,131 (GRCm39) M336K probably benign Het
Cd226 A C 18: 89,225,144 (GRCm39) probably benign Het
Ceacam23 C A 7: 17,638,906 (GRCm39) A301E possibly damaging Het
Ces1f A T 8: 93,996,652 (GRCm39) S214T probably damaging Het
Clip1 T C 5: 123,768,784 (GRCm39) D605G probably benign Het
Col26a1 A G 5: 136,794,154 (GRCm39) probably null Het
Crtc1 A G 8: 70,845,663 (GRCm39) V306A probably benign Het
D130043K22Rik G A 13: 25,047,563 (GRCm39) probably benign Het
D17H6S53E A T 17: 35,346,385 (GRCm39) probably null Het
Dnah11 G A 12: 118,160,397 (GRCm39) A111V probably benign Het
Dyrk2 T C 10: 118,697,027 (GRCm39) H77R probably benign Het
Epha3 A G 16: 63,423,882 (GRCm39) probably benign Het
Epn2 T C 11: 61,410,317 (GRCm39) N611S probably benign Het
Erich6 A C 3: 58,526,365 (GRCm39) probably benign Het
Fam217b T C 2: 178,062,782 (GRCm39) S249P probably benign Het
Fam219b A G 9: 57,445,299 (GRCm39) probably benign Het
Fryl A T 5: 73,246,424 (GRCm39) probably benign Het
Ftdc2 G A 16: 58,455,886 (GRCm39) S129L probably damaging Het
Gm14496 T C 2: 181,638,059 (GRCm39) W378R probably damaging Het
Gm57858 A G 3: 36,074,362 (GRCm39) probably benign Het
Gm8674 A T 13: 50,058,611 (GRCm39) noncoding transcript Het
Grap T A 11: 61,551,065 (GRCm39) D32E possibly damaging Het
Grk2 C A 19: 4,339,385 (GRCm39) L428F probably damaging Het
Grm8 T A 6: 27,363,178 (GRCm39) E779V probably damaging Het
Hipk1 A G 3: 103,661,612 (GRCm39) S670P probably damaging Het
Ilrun A T 17: 28,005,112 (GRCm39) S148R probably damaging Het
Itgae A T 11: 73,020,032 (GRCm39) M845L probably benign Het
Itih1 A T 14: 30,663,512 (GRCm39) V164E probably damaging Het
Itpka T A 2: 119,581,312 (GRCm39) N448K probably damaging Het
Jak3 A C 8: 72,136,622 (GRCm39) N643T probably damaging Het
Lrfn5 A C 12: 61,886,454 (GRCm39) T81P probably damaging Het
Lrrc45 T A 11: 120,609,019 (GRCm39) probably null Het
Marchf6 T C 15: 31,480,437 (GRCm39) Y562C probably benign Het
Mcrs1 T C 15: 99,141,330 (GRCm39) probably benign Het
Meis1 G A 11: 18,831,767 (GRCm39) H424Y possibly damaging Het
Mst1r A G 9: 107,791,975 (GRCm39) N837S probably benign Het
Mst1r G A 9: 107,790,366 (GRCm39) V660I probably benign Het
Mthfd2l T C 5: 91,094,801 (GRCm39) V90A probably damaging Het
Mtnr1a A T 8: 45,540,974 (GRCm39) I312F probably benign Het
Or10g3b T C 14: 52,586,835 (GRCm39) I223V probably benign Het
Or51g1 C A 7: 102,634,043 (GRCm39) L109F possibly damaging Het
Or8b12b T C 9: 37,684,372 (GRCm39) V139A probably benign Het
Otog C T 7: 45,918,786 (GRCm39) T954I possibly damaging Het
Pdcd6 A G 13: 74,464,443 (GRCm39) probably benign Het
Phlpp2 A G 8: 110,663,738 (GRCm39) T926A probably damaging Het
Plec GGCAGCAG GGCAGCAGCAG 15: 76,066,107 (GRCm39) probably benign Het
Plekha5 T A 6: 140,535,360 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Pramel18 G A 4: 101,767,294 (GRCm39) C181Y probably damaging Het
Pramel23 A T 4: 143,425,056 (GRCm39) M129K probably benign Het
Rab27b T C 18: 70,120,112 (GRCm39) probably benign Het
Rapsn T C 2: 90,867,153 (GRCm39) Y152H probably damaging Het
Rasd1 A T 11: 59,855,379 (GRCm39) F85I probably damaging Het
Rgs1 A T 1: 144,123,671 (GRCm39) S85T probably damaging Het
Samd9l T C 6: 3,372,725 (GRCm39) E1512G possibly damaging Het
Sgsm1 C T 5: 113,427,050 (GRCm39) A127T probably benign Het
Shc1 A G 3: 89,330,276 (GRCm39) D70G probably damaging Het
Slc26a1 T A 5: 108,821,389 (GRCm39) T167S probably benign Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc2a12 T C 10: 22,577,915 (GRCm39) probably benign Het
Slc30a7 T A 3: 115,783,789 (GRCm39) probably null Het
Slc44a5 T C 3: 153,971,111 (GRCm39) S654P probably damaging Het
Stard9 T G 2: 120,527,480 (GRCm39) S1246A possibly damaging Het
Stxbp5 A T 10: 9,740,843 (GRCm39) S116R probably damaging Het
Syvn1 C T 19: 6,102,483 (GRCm39) P517L probably benign Het
Tas2r105 T C 6: 131,664,393 (GRCm39) I12V probably benign Het
Tas2r121 A G 6: 132,677,325 (GRCm39) S216P probably damaging Het
Tcof1 T C 18: 60,978,904 (GRCm39) D48G probably damaging Het
Tgm3 C T 2: 129,868,602 (GRCm39) probably benign Het
Tle2 T C 10: 81,424,781 (GRCm39) F667L probably damaging Het
Tnfaip3 C A 10: 18,878,697 (GRCm39) A704S probably benign Het
Trabd2b A G 4: 114,437,519 (GRCm39) Q232R probably benign Het
Ttc28 T A 5: 111,378,947 (GRCm39) I1144N probably damaging Het
Ucp3 T A 7: 100,128,748 (GRCm39) C25* probably null Het
Ugt3a1 A G 15: 9,370,236 (GRCm39) D460G probably damaging Het
Urb1 T C 16: 90,592,336 (GRCm39) D308G possibly damaging Het
Ush1g G T 11: 115,209,694 (GRCm39) R167S possibly damaging Het
Vmn2r108 A T 17: 20,691,721 (GRCm39) D267E probably benign Het
Zng1 A G 19: 24,918,203 (GRCm39) probably benign Het
Other mutations in Vav3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Vav3 APN 3 109,435,708 (GRCm39) splice site probably benign
IGL01488:Vav3 APN 3 109,565,260 (GRCm39) missense probably damaging 0.99
IGL01649:Vav3 APN 3 109,470,078 (GRCm39) missense probably benign
IGL01675:Vav3 APN 3 109,571,729 (GRCm39) missense probably benign 0.16
IGL02189:Vav3 APN 3 109,433,276 (GRCm39) splice site probably benign
IGL03134:Vav3 APN 3 109,470,410 (GRCm39) splice site probably benign
IGL03358:Vav3 APN 3 109,554,989 (GRCm39) missense probably damaging 1.00
PIT4131001:Vav3 UTSW 3 109,571,751 (GRCm39) critical splice donor site probably null
R0511:Vav3 UTSW 3 109,571,756 (GRCm39) splice site probably benign
R0542:Vav3 UTSW 3 109,434,746 (GRCm39) missense probably damaging 1.00
R0630:Vav3 UTSW 3 109,331,328 (GRCm39) missense probably damaging 1.00
R0683:Vav3 UTSW 3 109,559,129 (GRCm39) missense probably benign 0.04
R0836:Vav3 UTSW 3 109,554,995 (GRCm39) missense possibly damaging 0.93
R0940:Vav3 UTSW 3 109,470,151 (GRCm39) missense possibly damaging 0.78
R1561:Vav3 UTSW 3 109,402,154 (GRCm39) critical splice donor site probably null
R1617:Vav3 UTSW 3 109,418,294 (GRCm39) missense probably damaging 1.00
R1760:Vav3 UTSW 3 109,248,443 (GRCm39) missense possibly damaging 0.61
R1834:Vav3 UTSW 3 109,413,742 (GRCm39) missense probably benign 0.06
R1928:Vav3 UTSW 3 109,413,738 (GRCm39) missense possibly damaging 0.94
R2090:Vav3 UTSW 3 109,555,055 (GRCm39) critical splice donor site probably null
R2190:Vav3 UTSW 3 109,470,130 (GRCm39) missense probably damaging 1.00
R2483:Vav3 UTSW 3 109,248,482 (GRCm39) missense probably damaging 1.00
R3124:Vav3 UTSW 3 109,535,484 (GRCm39) critical splice donor site probably null
R3125:Vav3 UTSW 3 109,535,484 (GRCm39) critical splice donor site probably null
R3800:Vav3 UTSW 3 109,535,355 (GRCm39) missense probably benign 0.45
R3919:Vav3 UTSW 3 109,434,854 (GRCm39) missense possibly damaging 0.51
R4693:Vav3 UTSW 3 109,470,534 (GRCm39) splice site probably benign
R4779:Vav3 UTSW 3 109,416,110 (GRCm39) missense possibly damaging 0.88
R5384:Vav3 UTSW 3 109,434,791 (GRCm39) missense possibly damaging 0.92
R5385:Vav3 UTSW 3 109,434,791 (GRCm39) missense possibly damaging 0.92
R5474:Vav3 UTSW 3 109,571,737 (GRCm39) missense probably benign
R5703:Vav3 UTSW 3 109,248,557 (GRCm39) missense probably benign 0.13
R5997:Vav3 UTSW 3 109,408,777 (GRCm39) missense probably damaging 1.00
R6109:Vav3 UTSW 3 109,571,681 (GRCm39) missense probably damaging 1.00
R6110:Vav3 UTSW 3 109,571,681 (GRCm39) missense probably damaging 1.00
R6120:Vav3 UTSW 3 109,571,681 (GRCm39) missense probably damaging 1.00
R6123:Vav3 UTSW 3 109,571,681 (GRCm39) missense probably damaging 1.00
R6124:Vav3 UTSW 3 109,571,681 (GRCm39) missense probably damaging 1.00
R6186:Vav3 UTSW 3 109,423,383 (GRCm39) missense probably damaging 1.00
R6291:Vav3 UTSW 3 109,416,170 (GRCm39) missense possibly damaging 0.82
R6335:Vav3 UTSW 3 109,470,512 (GRCm39) missense probably benign 0.01
R6647:Vav3 UTSW 3 109,434,732 (GRCm39) missense probably benign 0.19
R6849:Vav3 UTSW 3 109,428,782 (GRCm39) missense probably damaging 1.00
R6897:Vav3 UTSW 3 109,434,810 (GRCm39) missense probably damaging 1.00
R7075:Vav3 UTSW 3 109,433,240 (GRCm39) missense possibly damaging 0.47
R7131:Vav3 UTSW 3 109,571,662 (GRCm39) missense probably damaging 1.00
R7328:Vav3 UTSW 3 109,410,744 (GRCm39) missense probably benign 0.10
R7365:Vav3 UTSW 3 109,535,415 (GRCm39) missense possibly damaging 0.67
R7991:Vav3 UTSW 3 109,470,478 (GRCm39) missense probably damaging 1.00
R8151:Vav3 UTSW 3 109,416,164 (GRCm39) missense probably benign
R8164:Vav3 UTSW 3 109,248,368 (GRCm39) missense probably benign
R8170:Vav3 UTSW 3 109,331,323 (GRCm39) missense probably damaging 1.00
R8527:Vav3 UTSW 3 109,410,787 (GRCm39) missense probably damaging 0.98
R8542:Vav3 UTSW 3 109,410,787 (GRCm39) missense probably damaging 0.98
R8734:Vav3 UTSW 3 109,565,285 (GRCm39) missense probably benign 0.00
R8828:Vav3 UTSW 3 109,555,051 (GRCm39) missense probably benign 0.00
R8963:Vav3 UTSW 3 109,590,229 (GRCm39) missense probably damaging 1.00
R9032:Vav3 UTSW 3 109,413,722 (GRCm39) missense probably benign
R9085:Vav3 UTSW 3 109,413,722 (GRCm39) missense probably benign
R9387:Vav3 UTSW 3 109,565,291 (GRCm39) missense probably benign 0.39
R9393:Vav3 UTSW 3 109,485,682 (GRCm39) critical splice donor site probably null
R9429:Vav3 UTSW 3 109,564,561 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCAATAGGCAAGCAACCCTGAG -3'
(R):5'- TCCTGTAACCTGAGTGACCAGGAG -3'

Sequencing Primer
(F):5'- AACCCTGAGGATACTGCGTTG -3'
(R):5'- GGAGCAGGTTAGACCATTTACCC -3'
Posted On 2013-10-16