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
Gene GO
membrane; protein binding; integral component of membrane; low-density lipoprotein receptor activity; receptor-mediated endocytosis; receptor complex; calcium ion binding
Homolog in other species LRP1B
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049252
Chromosome 2
Coordinate 41,312,559     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 54
Allele Frequency
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL02946
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved