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; 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
LOW
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000049252
Chromosome 2
Coordinate 41,312,466     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 25
Allele Frequency
G:R0.64
A:V0.36
Amino Acid Change Disrupted splicing
Splice Position 10
Sample ID IGL03129
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 

 Availability Details 
Availability Line Propagating , Progeny Cryopreserved