|Institutional Source||Beutler Lab|
|Gene Name||sortilin-related receptor, LDLR class A repeats-containing|
|Synonyms||2900010L19Rik, mSorLA, Sorla, LR11|
|Essential gene?||Probably non essential (E-score: 0.213)|
|Stock #||R7831 (G1)|
|Chromosomal Location||41964720-42124297 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 42089961 bp (GRCm38)|
|Amino Acid Change||Valine to Leucine at position 248 (V248L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058613 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060989]|
AA Change: V248L
PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: V248L
|Coding Region Coverage||
|Validation Efficiency||100% (87/87)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutation of this gene results in decreased femoral artery intimal thickness after cuff placement and abolished angiotensin II stimulated vascular smooth muscle migration and attachment. Two other alleles show an increase in beta-amyloid deposits or peptide in the brain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sorl1||
(F):5'- TTCCTCAGCATCTCAAACCG -3'
(R):5'- AAGTGGCAGGCAAGTTGTCC -3'
(F):5'- GTCACCCTTTGATACCAGGAG -3'
(R):5'- GCCGTTCTAGAAAACAGATCTGTC -3'