|Institutional Source||Beutler Lab|
|Gene Name||vesicle-associated membrane protein, associated protein A|
|Synonyms||VAP33, synaptobrevin-associated protein of 33kDa|
|Is this an essential gene?||Possibly essential (E-score: 0.522)|
|Stock #||R5421 (G1)|
|Chromosomal Location||65580056-65613555 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 65595036 bp|
|Amino Acid Change||Valine to Alanine at position 33 (V33A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024897 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024897]|
|PDB Structure||Solution structure of the MSP domain of mouse VAMP-associated proteinA [SOLUTION NMR]|
|Predicted Effect||possibly damaging
AA Change: V33A
PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: V33A
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vapa||
(F):5'- CTGTACGGTAAGATACCCAAGG -3'
(R):5'- GTCATGTGATGTGTTATGAACATGC -3'
(F):5'- GTACGGTAAGATACCCAAGGAACATC -3'
(R):5'- GGATTTTTGGACCCCACATAACG -3'