Plcl2 - SNV Details



 Gene Information 
Gene Name Plcl2
Old Gene Names for Plcl2 Plce2
Gene Description phospholipase C-like 2 [Source:MGI Symbol;Acc:MGI:1352756]
MGI phenotype Inactivation of this gene is compatible with normal immune cell development, though the B cell response is dysregulated.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; lipid metabolic process; cytoplasm; signal transduction; GABA receptor binding; negative regulation of B cell receptor signaling pathway; B cell proliferation involved in immune response; phosphoric diester hydrolase activity; protein binding; B-1a B cell differentiation; signal transducer activity; calcium ion binding; regulation of peptidyl-serine phosphorylation; regulation of synaptic transmission
GABAergic; phosphatidylinositol phospholipase C activity; positive regulation of receptor binding; gamma-aminobutyric acid signaling pathway
Homolog in other species PLCL2
Omim http://omim.org/entry/614276
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038910
Chromosome 17
Coordinate 50,687,814     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
G:R0.61
T:V0.39
Amino Acid Change E->Stop (Glutamic acid -> Stop)
Sample ID IGL02985
Median Base Quality 34.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Cryopreserved