Pirb - SNV Details



 Gene Information 
Gene Name Pirb
Old Gene Names for Pirb Lilrb3 , Gp91
Gene Description leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 [Source:MGI Symbol;Acc:MGI:894311]
MGI phenotype Mice homozygous for disruptions of this gene display abnormalities in both B and T lymphocytes.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cytokine-mediated signaling pathway; protein binding; B cell mediated immunity; plasma membrane; myeloid dendritic cell differentiation; B cell homeostasis
Omim http://omim.org/entry/604820
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC GROUP, TGD.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058818
Chromosome 7
Coordinate 3,717,406     (Assembly: GRCm38)    
Ref Base G
Codon Change Ccc/Tcc
Var Base A
Zygosity Heterozygous
Read Depth 49
Allele Frequency
G:R0.59
A:V0.41
Amino Acid Position 323
Amino Acid Change P->S (Proline -> Serine)
Sample ID IGL01295
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 68 Other Mutations

 Predictions 
Polyphen Score 0.18
Polyphen Prediction Benign
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved