|Institutional Source||Beutler Lab|
|Gene Name||sortilin-related VPS10 domain containing receptor 3|
|Is this an essential gene?||Probably non essential (E-score: 0.172)|
|Stock #||R6767 (G1)|
|Chromosomal Location||48206025-48805505 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 48713571 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 630 (L630F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077919 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078880]|
|Predicted Effect||probably damaging
AA Change: L630F
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: L630F
|Meta Mutation Damage Score||0.128|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit absent NMDA and glutamate receptor-dependent long term depression, impaired spatial learning and memory and impaired fear memory. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sorcs3||
(F):5'- TCCTACGAATGCCATTTGAGTG -3'
(R):5'- GCCCCATCTGAATTATCTGGC -3'
(F):5'- CCTTGACAGACTATCTAATGGGATG -3'
(R):5'- AAACAGTGTGCTGGTGAG -3'