|Institutional Source||Beutler Lab|
|Gene Name||phospholipase C, delta 3|
|Is this an essential gene?||Possibly essential (E-score: 0.530)|
|Stock #||R7165 (G1)|
|Chromosomal Location||103070304-103101658 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 103079613 bp|
|Amino Acid Change||Phenylalanine to Serine at position 200 (F200S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099366 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103077]|
|Predicted Effect||probably damaging
AA Change: F200S
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: F200S
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plcd3||
(F):5'- GACTAACCAGGCTCAGGTGTTG -3'
(R):5'- CAGGCTAGGAGAAAAGTACAGTCTC -3'
(F):5'- GGCCTGATGGTGCCTATCAAAAATC -3'
(R):5'- AGGAGAAAAGTACAGTCTCTAATTCC -3'