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
Golgi apparatus
SH3 domain binding
aging
apical part of cell
apical plasma membrane
brush border
brush border membrane
calcium ion binding
cell proliferation
coated pit
cytoplasm
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 69,521,881     (Assembly: GRCm38)    
Ref Base A
Codon Change Ttt/Ctt
Var Base G
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:0.61
G:0.39
Amino Acid Position 604
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL00897
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.14
Polyphen Prediction Benign
Sift Score 0.09
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved