Sorl1 - SNV Details



 Human Rare Diseases 
Early-onset autosomal dominant Alzheimer disease

 Gene Information 
Gene Name Sorl1
Old Gene Names for Sorl1 Ai596264 , 2900010l19rik , Aw261561
Gene Description sortilin-related receptor, LDLR class A repeats-containing [Source:MGI Symbol;Acc:MGI:1202296]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
perinuclear region of cytoplasm; integral to membrane; cholesterol metabolic process; protein binding; lipid transport; low-density lipoprotein particle binding; low-density lipoprotein particle; multicellular organismal development; endocytosis
Homolog in other species SORL1
Omim http://omim.org/entry/602005
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, C2C12, UMBLICALCORD, NIH.3T3, OSTEO GROUP, EPITH GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049313
Chromosome 9
Coordinate 41,974,094     (Assembly: GRCm38)    
Ref Base A
Var Base C
Zygosity Heterozygous
Read Depth 50
Allele Frequency
A:R0.58
C:V0.42
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL00087
Median Base Quality 39
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved