Lrp1b - SNV Details



 Gene Information 
Gene Name Lrp1b
Old Gene Names for Lrp1b 9630004p12rik
Gene Description low density lipoprotein-related protein 1B (deleted in tumors) [Source:MGI Symbol;Acc:MGI:2151136]
MGI phenotype Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors.
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; protein binding; low-density lipoprotein receptor activity; calcium ion binding
Homolog in other species LRP1B
Immgen Expression
LOW
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049252
Chromosome 2
Coordinate 41,449,234     (Assembly: GRCm38)    
Ref Base C
Codon Change Ggc/Tgc
Var Base A
Zygosity Heterozygous
Read Depth 26
Allele Frequency
C:R0.58
A:V0.42
Amino Acid Position 752
Amino Acid Change G->C (Glycine -> Cysteine)
Sample ID IGL01826
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 20 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved