Plcg2 - SNV Details



 Human Rare Diseases 
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation

 Gene Information 
Gene Name Plcg2
Old Gene Names for Plcg2 Plcg-2
Gene Description phospholipase C, gamma 2 [Source:MGI Symbol;Acc:MGI:97616]
MGI phenotype Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.
Uniprot Name
CCDS Name
Gene GO
response to lipopolysaccharide; intracellular signal transduction; lipid metabolic process; inositol trisphosphate biosynthetic process; phosphatidylinositol biosynthetic process; signal transduction; follicular B cell differentiation; B cell differentiation; response to ATP; activation of store-operated calcium channel activity; phospholipase C activity; phosphoric diester hydrolase activity; regulation of gene expression; negative regulation of programmed cell death; protein binding; response to magnesium ion; cytosol; plasma membrane; phospholipid catabolic process; signal transducer activity; B cell receptor signaling pathway; phospholipid binding; release of sequestered calcium ion into cytosol; phosphatidylinositol phospholipase C activity; T cell receptor signaling pathway
Homolog in other species PLCG2
Omim http://omim.org/entry/600220
Immgen Expression
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034330
Chromosome 8
Coordinate 117,590,233     (Assembly: GRCm38)    
Ref Base C
Codon Change caC/caA
Var Base A
Zygosity Heterozygous
Read Depth 13
Allele Frequency
C:R0.69
A:V0.31
Amino Acid Position 616
Amino Acid Change H->Q (Histidine -> Glutamine)
Sample ID IGL01828
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 21 Other Mutations

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

 Protein domains 
ENSMUSP00000079991:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase gamma PLC-gamma IPR016279 ENSMUSP00000079991 PIRSF 1
1264 Description available Search pathways
PLC-like phosphodiesterase, TIM beta/alpha-barrel domain PLC-like_Pdiesterase_TIM-brl IPR017946 ENSMUSP00000079991 Superfamily 315
1060 Description available Search pathways
SH2 domain SH2 IPR000980 ENSMUSP00000079991 Prosite_profiles 532
635 Description available Search pathways
SH2 domain SH2 IPR000980 ENSMUSP00000079991 Pfam 532
617 Description available Search pathways
SH2 domain SH2 IPR000980 ENSMUSP00000079991 Smart 530
623 Description available Search pathways

 Availability Details 
Availability Cryopreserved