|Institutional Source||Beutler Lab|
|Gene Name||vesicle-associated membrane protein, associated protein B and C|
|Synonyms||VAP33b, VAMP-associated protein 33b, D2Abb2e|
|Is this an essential gene?||Probably non essential (E-score: 0.167)|
|Stock #||R1302 (G1)|
|Chromosomal Location||173737511-173784336 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 173771537 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 76 (F76L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064699 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067530]|
|Predicted Effect||possibly damaging
AA Change: F76L
PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: F76L
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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 found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibited enhanced motor coordination during inverted screen testing. Mice homozygous for another knock-out allele exhibit hypotonia, impaired coordination in older mice and mild tremors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vapb||
(F):5'- TGGCCTTAACTGCTGACCTGAAAG -3'
(R):5'- GAAGCATCCACTCAGGATAGAGCAC -3'
(F):5'- TTAACTGCTGACCTGAAAGATGGG -3'
(R):5'- GCAAGTTCAGTTCATCGAGTCAG -3'