|Institutional Source||Beutler Lab|
|Gene Name||sortilin-related VPS10 domain containing receptor 2|
|Synonyms||VPS10 domain receptor protein|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6292 (G1)|
|Chromosomal Location||36017180-36398139 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 36062587 bp|
|Amino Acid Change||Arginine to Histidine at position 371 (R371H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041828 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037370] [ENSMUST00000135324]|
|Predicted Effect||probably damaging
AA Change: R371H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R371H
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sorcs2||
(F):5'- CAGGTTCTTTGCACATGCTC -3'
(R):5'- TCTTAGGTGACTCTGAATCTGAC -3'
(F):5'- CACTTTATTATAATAGGCTGGCAGGG -3'
(R):5'- GTGACTCTGAATCTGACAAGAGCTAC -3'