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
SH2 domain SH2 IPR000980 ENSMUSP00000079991 Prosite_profiles 532
635 Description available Search pathways
SH2 domain SH2 IPR000980 ENSMUSP00000079991 Smart 530
623 Description available 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 Pfam 532
617 Description available Search pathways

 Availability Details 
Availability Cryopreserved