|Institutional Source||Beutler Lab|
|Gene Name||VPS35 retromer complex component|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6434 (G1)|
|Chromosomal Location||85260392-85299802 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 85273495 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 501 (D501N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034131 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034131]|
|Predicted Effect||possibly damaging
AA Change: D501N
PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: D501N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E10. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps35||
(F):5'- ACTTGTTCTTCATGAGTGCCAAC -3'
(R):5'- GTATCCACTTAGAAACTGTTGCC -3'
(F):5'- ATGGCTACAGTGAGAACTTGCCTC -3'
(R):5'- ATTCAGGATCAGCCAGAC -3'