Psapl1,Sorcs2 - SNV Details



 Gene Information 
Gene Name Psapl1 , Sorcs2
Old Gene Names for Psapl1 2310020a21rik
Old Gene Names for Sorcs2 N28137
Gene Description sortilin-related VPS10 domain containing receptor 2 [Source:MGI Symbol;Acc:MGI:1932289],prosaposin-like 1 [Source:MGI Symbol;Acc:MGI:1924193]
Uniprot Name
CCDS Name
Gene GO
lipid metabolic process; lysosome; extracellular region; sphingolipid metabolic process; molecular_function
integral to membrane
Homolog in other species PSAPL1,SORCS2
Omim NO_OMIM,http://omim.org/entry/606284
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL),MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1),NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000043430
Chromosome 5
Coordinate 36,205,225     (Assembly: GRCm38)    
Ref Base C
Codon Change cCa/cAa
Var Base A
Zygosity Heterozygous
Read Depth 13
Allele Frequency
C:R0.54
A:V0.38
Amino Acid Position 387
Amino Acid Change P->Q (Proline -> Glutamine)
Sample ID IGL01873
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0.11
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved