|Institutional Source||Beutler Lab|
|Gene Name||phospholipase C, beta 3|
|Is this an essential gene?||Possibly essential (E-score: 0.664)|
|Stock #||R0724 (G1)|
|Chromosomal Location||6953714-6969759 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 6963392 bp|
|Amino Acid Change||Arginine to Cysteine at position 359 (R359C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025912 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025912]|
|Predicted Effect||probably damaging
AA Change: R359C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R359C
|Meta Mutation Damage Score||0.9400|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one targeted mutation die at E2.5 and exhibit poor embryonic organization and hypocellularity. Mice homozygous for a second targeted mutation survive to adulthood and exhibit an increased antinocieptive response to opioids. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plcb3||
(F):5'- TTGTCGAGAGGGTCAATGAGCAGC -3'
(R):5'- ATCCACACTGACTGGAGGAGTGAG -3'
(F):5'- TCTAGAGATTCCCAGGGCAG -3'
(R):5'- AGAGACTAGTATTGCCCTGGAATTG -3'