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; integral to membrane; protein binding; low-density lipoprotein receptor activity; calcium ion binding
Homolog in other species LRP1B
Immgen Expression
LOW
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049252
Chromosome 2
Coordinate 40,750,947     (Assembly: GRCm38)    
Ref Base C
Codon Change tGt/tAt
Var Base T
Zygosity Heterozygous
Read Depth 51
Allele Frequency
C:R0.57
T:V0.43
Amino Acid Position 3526
Amino Acid Change C->Y (Cysteine -> Tyrosine)
Sample ID IGL01092
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000054275:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Low-density lipoprotein (LDL) receptor class A repeat LDrepeatLR_classA_rpt IPR002172 ENSMUSP00000054275 Smart 3506
3543 Description available Search pathways
Low-density lipoprotein (LDL) receptor class A repeat LDrepeatLR_classA_rpt IPR002172 ENSMUSP00000054275 Prosite_profiles 3506
3542 Description available Search pathways
Low-density lipoprotein (LDL) receptor class A repeat LDrepeatLR_classA_rpt IPR002172 ENSMUSP00000054275 Superfamily 3505
3541 Description available Search pathways
Low-density lipoprotein (LDL) receptor class A repeat LDrepeatLR_classA_rpt IPR002172 ENSMUSP00000054275 Pfam 3505
3541 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved , Line Propagating