|Institutional Source||Beutler Lab|
|Gene Name||phospholipase C, gamma 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5557 (G1)|
|Chromosomal Location||117498291-117635142 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 117586557 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 487 (I487F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079991 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081232]|
|Predicted Effect||probably damaging
AA Change: I487F
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: I487F
|Meta Mutation Damage Score||0.27|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plcg2||
(F):5'- GGCTGAATTCTTGTTGCTTCAAAG -3'
(R):5'- TCAGCTGTGGTGCATCATGG -3'
(F):5'- AAGACTCTGAACTTGGGTCTCCAG -3'
(R):5'- AATCTAGGGTCTATGACATTGGTC -3'