|Institutional Source||Beutler Lab|
|Gene Name||phospholipase C, gamma 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5264 (G1)|
|Chromosomal Location||117498291-117635142 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 117634793 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 1255 (E1255V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079991 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081232]|
|Predicted Effect||possibly damaging
AA Change: E1255V
PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: E1255V
|Meta Mutation Damage Score||0.0762|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
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'- TGGATCCTTAAAGAGCCGC -3'
(R):5'- AATAGCAGGAAGGTCTCAACGC -3'
(F):5'- GGATCCTTAAAGAGCCGCCATTG -3'
(R):5'- CAGAACTGTCATCTCTATGGTGAG -3'