|Institutional Source||Beutler Lab|
|Gene Name||vav 3 oncogene|
|Is this an essential gene?||Probably non essential (E-score: 0.099)|
|Stock #||R4779 (G1)|
|Chromosomal Location||109340653-109685698 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 109508794 bp|
|Amino Acid Change||Lysine to Isoleucine at position 243 (K243I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036270 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046864]|
|Predicted Effect||possibly damaging
AA Change: K243I
PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: K243I
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3152|
|Coding Region Coverage||
|Validation Efficiency||98% (95/97)|
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||
|Other mutations in Vav3||
(F):5'- CCACAGTGGGAGCTATGCT -3'
(R):5'- CTGGCCTATTTTAATAAACAAACGAA -3'
(F):5'- CAAGCATCCAGGTAGTTGACTCTG -3'
(R):5'- CTTGATACAAGTTCTGGTCA -3'