|Institutional Source||Beutler Lab|
|Gene Name||phospholipase C, beta 1|
|Is this an essential gene?||Probably non essential (E-score: 0.241)|
|Stock #||R6760 (G1)|
|Chromosomal Location||134786067-135475258 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 135472060 bp|
|Amino Acid Change||Threonine to Methionine at position 1144 (T1144M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105743 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110116] [ENSMUST00000131552]|
|Predicted Effect||possibly damaging
AA Change: T1144M
PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: T1144M
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||97% (35/36)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plcb1||
(F):5'- CCTTAGGCTTGTTACACTACATGAC -3'
(R):5'- TCACTGGAGGGAGACTTGAG -3'
(F):5'- GACCACAACTTGATTTTCAGCTGGG -3'
(R):5'- GGTTCACCTTTGCAGCATCTGAG -3'