Lrp8 - SNV Details



 Gene Information 
Gene Name Lrp8
Old Gene Names for Lrp8 Lr8b , 4932703m08rik , Aa921429 , Ai848122
Gene Description low density lipoprotein receptor-related protein 8, apolipoprotein e receptor [Source:MGI Symbol;Acc:MGI:1340044]
MGI phenotype Homozygotes for a targeted null mutation exhibit impaired granule cell migration, radial glial scaffold formation, contextual fear conditioning, and long-term potentiation. Mutant males have abnormal sperm and are sterile.
Uniprot Name
CCDS Name
Gene GO
positive regulation of dendrite development; reelin receptor activity; positive regulation of protein tyrosine kinase activity; calcium-dependent protein binding; caveola; integral to membrane; very-low-density lipoprotein particle receptor activity; reelin-mediated signaling pathway; apolipoprotein binding; layer formation in cerebral cortex; protein binding; glycoprotein binding; low-density lipoprotein receptor activity; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of protein kinase activity; ammon gyrus development; hippocampus development; negative regulation of transcription from RNA polymerase II promoter; plasma membrane; regulation of synaptic transmission; positive regulation of CREB transcription factor activity; calcium ion binding; extracellular space; positive regulation of dendritic spine morphogenesis; endocytosis; ventral spinal cord development
Homolog in other species LRP8
Omim http://omim.org/entry/602600
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028613
Chromosome 4
Coordinate 107,847,494     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtt/Ttt
Var Base T
Zygosity Heterozygous
Read Depth 78
Allele Frequency
G:R0.50
T:V0.50
Amino Acid Position 178
Amino Acid Change V->F (Valine -> Phenylalanine)
Sample ID IGL02398
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 0.78
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved