Lrp2 - SNV Details



 Human Rare Diseases 
Donnai-Barrow syndrome

 Gene Information 
Gene Name Lrp2
Old Gene Names for Lrp2 D230004k18rik , Ai315343 , Aw536255 , Gp330
Gene Description low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]
MGI phenotype Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.
Uniprot Name
CCDS Name
Gene GO
membrane; receptor activity; apical plasma membrane; lysosomal membrane; cell proliferation; coated pit; brush border; SH3 domain binding; endoplasmic reticulum; protein binding; integral component of membrane; endosome; extracellular vesicular exosome; brush border membrane; apical part of cell; receptor-mediated endocytosis; endocytic vesicle; forebrain development; receptor complex; calcium ion binding; Golgi apparatus; vitamin metabolic process
Homolog in other species LRP2
Omim http://omim.org/entry/600073
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, BLASTOCYSTS, GI GROUP)
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, BLASTOCYSTS, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027070
Chromosome 2
Coordinate 69,552,450     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 38
Allele Frequency
A:R0.42
T:V0.58
Amino Acid Change S->R (Serine -> Arginine)
Sample ID IGL02889
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved