Lrp1 - SNV Details



 Gene Information 
Gene Name Lrp1
Old Gene Names for Lrp1 Ai316852
Gene Description low density lipoprotein receptor-related protein 1 [Source:MGI Symbol;Acc:MGI:96828]
MGI phenotype Mice homozygous for a null allele exhibit lethality during late organogenesis.
Uniprot Name
CCDS Name
Gene GO
lipoprotein metabolic process; negative regulation of platelet-derived growth factor receptor-beta signaling pathway; perinuclear region of cytoplasm; membrane; integral to membrane; cholesterol metabolic process; protease binding; cell proliferation; coated pit; beta-amyloid clearance; positive regulation of cholesterol efflux; apoptotic cell clearance; negative regulation of smooth muscle cell migration; integral to plasma membrane; apolipoprotein binding; protein binding; neuronal cell body; nucleus; endosome; regulation of actin cytoskeleton organization; aging; aorta morphogenesis; clathrin-coated vesicle; regulation of cholesterol transport; receptor-mediated endocytosis; regulation of phospholipase A2 activity; protein kinase C-activating G-protein coupled receptor signaling pathway; protein complex binding; negative regulation of Wnt receptor signaling pathway; positive regulation of lipid transport; dendrite; calcium ion binding; positive regulation of protein transport
Homolog in other species LRP1
Omim http://omim.org/entry/107770
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040249
Chromosome 10
Coordinate 127,572,422     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 127
Allele Frequency
A:R0.54
T:V0.46
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL02624
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.84
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved