Incidental Mutation 'R1760:Vav3'
ID 192676
Institutional Source Beutler Lab
Gene Symbol Vav3
Ensembl Gene ENSMUSG00000033721
Gene Name vav 3 oncogene
Synonyms A530094I06Rik, Idd18.1
MMRRC Submission 039792-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R1760 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 109247969-109593014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109248443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 30 (V30A)
Ref Sequence ENSEMBL: ENSMUSP00000036270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046864]
AlphaFold Q9R0C8
Predicted Effect possibly damaging
Transcript: ENSMUST00000046864
AA Change: V30A

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036270
Gene: ENSMUSG00000033721
AA Change: V30A

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 noncoding transcript
Transcript: ENSMUST00000126179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137871
Meta Mutation Damage Score 0.3450 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency 97% (95/98)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,333,055 (GRCm39) S1585P probably benign Het
Abhd16b T C 2: 181,135,197 (GRCm39) F33S probably damaging Het
Adgra2 G A 8: 27,609,795 (GRCm39) R856Q probably damaging Het
Aff3 A T 1: 38,368,945 (GRCm39) probably benign Het
Anxa2 A T 9: 69,397,049 (GRCm39) Y251F probably benign Het
Arid1b A G 17: 5,392,088 (GRCm39) T1873A probably damaging Het
Baz1b C A 5: 135,271,378 (GRCm39) D1320E probably benign Het
Bbs1 A T 19: 4,944,350 (GRCm39) S426R probably benign Het
Bid A G 6: 120,877,209 (GRCm39) V44A possibly damaging Het
Ccdc60 T A 5: 116,310,532 (GRCm39) M177L probably damaging Het
Cdh23 G A 10: 60,161,855 (GRCm39) T1997M probably damaging Het
Cdh5 T A 8: 104,854,801 (GRCm39) M243K probably benign Het
Clpb T A 7: 101,435,905 (GRCm39) V578E possibly damaging Het
Cngb1 C A 8: 96,026,328 (GRCm39) C151F probably benign Het
Cntnap5b T C 1: 99,700,535 (GRCm39) S16P probably benign Het
Cr1l T A 1: 194,797,123 (GRCm39) M305L probably benign Het
Ctnnal1 A T 4: 56,838,988 (GRCm39) M235K probably damaging Het
Ddx55 A T 5: 124,706,176 (GRCm39) R534W probably damaging Het
Dip2b T A 15: 100,109,910 (GRCm39) L1465Q probably damaging Het
Dnah9 G T 11: 65,872,048 (GRCm39) D2727E probably benign Het
Dph3b-ps A C 13: 106,683,497 (GRCm39) noncoding transcript Het
Dst T A 1: 34,267,684 (GRCm39) L2702Q probably damaging Het
Efnb2 T C 8: 8,673,184 (GRCm39) T158A possibly damaging Het
Exosc10 A T 4: 148,662,926 (GRCm39) K712* probably null Het
Fgr T C 4: 132,725,653 (GRCm39) V354A possibly damaging Het
Fsip2 A G 2: 82,830,185 (GRCm39) D6893G possibly damaging Het
Fsip2 G A 2: 82,815,240 (GRCm39) V3658M probably benign Het
Fsip2 A T 2: 82,818,055 (GRCm39) H4596L possibly damaging Het
Gm1527 G A 3: 28,949,699 (GRCm39) probably benign Het
Gm5150 G T 3: 16,060,468 (GRCm39) Q7K probably benign Het
Gpr155 C T 2: 73,212,279 (GRCm39) V115M probably damaging Het
Gpr75 T C 11: 30,841,527 (GRCm39) L144P probably damaging Het
Gsn T A 2: 35,174,835 (GRCm39) Y127N probably damaging Het
Hk1 A G 10: 62,117,678 (GRCm39) L615S probably damaging Het
Igsf9b A G 9: 27,229,123 (GRCm39) T194A possibly damaging Het
Il17rd C T 14: 26,813,763 (GRCm39) Q46* probably null Het
Jak1 T A 4: 101,020,126 (GRCm39) M678L probably benign Het
Kif6 T C 17: 49,922,311 (GRCm39) V16A probably benign Het
Kpna3 T C 14: 61,607,990 (GRCm39) E405G probably benign Het
Lmtk2 C A 5: 144,110,993 (GRCm39) T571K probably damaging Het
Mucl2 T C 15: 103,927,838 (GRCm39) T40A possibly damaging Het
Myh11 G A 16: 14,051,559 (GRCm39) probably benign Het
Myh7 C T 14: 55,210,170 (GRCm39) R1845Q probably damaging Het
Myo1f T A 17: 33,805,172 (GRCm39) L480Q probably benign Het
Nek9 T G 12: 85,352,364 (GRCm39) D833A possibly damaging Het
Nek9 T C 12: 85,357,184 (GRCm39) E660G probably benign Het
Or10z1 C T 1: 174,077,926 (GRCm39) C189Y probably damaging Het
Or2a12 A G 6: 42,904,431 (GRCm39) I89V possibly damaging Het
Or2t45 A G 11: 58,669,195 (GRCm39) M81V possibly damaging Het
Or5h18 T C 16: 58,847,350 (GRCm39) R307G probably benign Het
Or6c65 T A 10: 129,603,417 (GRCm39) D17E probably benign Het
Or6f2 G A 7: 139,756,188 (GRCm39) V52M probably damaging Het
Or7s1a-ps1 T A 9: 18,843,791 (GRCm39) probably benign Het
Otud3 G T 4: 138,623,092 (GRCm39) T383K possibly damaging Het
Pkp4 T C 2: 59,142,185 (GRCm39) L496P probably damaging Het
Pla2g4e C A 2: 120,000,527 (GRCm39) A737S possibly damaging Het
Pla2g4f T C 2: 120,144,547 (GRCm39) probably benign Het
Plxnd1 A T 6: 115,944,740 (GRCm39) V1018E possibly damaging Het
Ppp1r21 T G 17: 88,869,653 (GRCm39) V402G possibly damaging Het
Prkcq T G 2: 11,304,881 (GRCm39) M690R probably damaging Het
Ptpra T C 2: 130,391,747 (GRCm39) I719T probably damaging Het
Rab3ip C T 10: 116,773,415 (GRCm39) D133N probably damaging Het
Relch T G 1: 105,647,169 (GRCm39) probably benign Het
Rsbn1 T A 3: 103,867,347 (GRCm39) Y563N probably damaging Het
Rtf1 A C 2: 119,558,889 (GRCm39) D530A probably benign Het
Rybp G T 6: 100,209,224 (GRCm39) S199R probably benign Het
Sema5a T G 15: 32,641,252 (GRCm39) C689G probably damaging Het
Senp6 T A 9: 80,025,911 (GRCm39) V314E probably benign Het
Setd1a T A 7: 127,385,062 (GRCm39) C47S possibly damaging Het
Slamf1 C A 1: 171,604,734 (GRCm39) T168K probably benign Het
Slc12a5 T C 2: 164,838,048 (GRCm39) S937P probably damaging Het
Slc38a11 C T 2: 65,185,663 (GRCm39) probably null Het
Slc6a2 C T 8: 93,687,846 (GRCm39) probably benign Het
Snw1 A T 12: 87,511,459 (GRCm39) F64Y probably benign Het
Spata9 A C 13: 76,146,643 (GRCm39) I172L probably benign Het
Sphkap T C 1: 83,255,265 (GRCm39) H828R probably benign Het
Spmip6 T A 4: 41,507,330 (GRCm39) probably null Het
Tmem94 A T 11: 115,687,580 (GRCm39) K1146N probably damaging Het
Trdn A G 10: 33,109,883 (GRCm39) T294A possibly damaging Het
Tsc22d1 T C 14: 76,654,388 (GRCm39) V289A possibly damaging Het
Tti1 C A 2: 157,834,955 (GRCm39) V1002L possibly damaging Het
Tubgcp4 T A 2: 121,019,952 (GRCm39) probably null Het
Ush2a G A 1: 188,643,180 (GRCm39) E4181K possibly damaging Het
Uvrag A G 7: 98,537,555 (GRCm39) S547P probably benign Het
Vegfa A G 17: 46,336,395 (GRCm39) Y242H probably damaging Het
Vmn2r75 G T 7: 85,798,019 (GRCm39) T598K probably damaging Het
Vps13b C T 15: 35,884,765 (GRCm39) S3146L possibly damaging Het
Vrk3 A G 7: 44,417,895 (GRCm39) Y310C probably damaging Het
Zfhx4 A G 3: 5,447,676 (GRCm39) K1100R probably benign Het
Zfp748 T A 13: 67,693,540 (GRCm39) probably null Het
Zfp760 A T 17: 21,941,311 (GRCm39) D162V probably damaging Het
Znfx1 T A 2: 166,881,786 (GRCm39) M1068L probably damaging 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
R0833:Vav3 UTSW 3 109,554,995 (GRCm39) missense possibly damaging 0.93
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
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'- AGCTCCACTCATCCGAGGGTTCAC -3'
(R):5'- TTAATGGGAGCCTCTGACGGGCAG -3'

Sequencing Primer
(F):5'- AGTCGGAAGCCAGTGCTC -3'
(R):5'- GGTTGATCTCCTTCAGATTGATGG -3'
Posted On 2014-05-23