|Institutional Source||Beutler Lab|
|Gene Name||VSP16 CORVET/HOPS core subunit|
|Is this an essential gene?||Probably essential (E-score: 0.973)|
|Stock #||R8246 (G1)|
|Chromosomal Location||130424339-130444269 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 130438873 bp (GRCm38)|
|Amino Acid Change||Glycine to Arginine at position 241 (G241R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028900 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000128994]|
|AlphaFold||no structure available at present|
AA Change: G241R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G241R
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice with a homozygous point mutation in exon 3 display impaired motor function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps16||
(F):5'- ACCTTCTGGATCATGCTACCTG -3'
(R):5'- AGCTTCTCCTGAAACAGCAC -3'
(F):5'- CTCTGCAGTGGTGAGAACCTAAG -3'
(R):5'- AGCACAGCATGTCATGGC -3'