|Institutional Source||Beutler Lab|
|Gene Name||phospholipase C, epsilon 1|
|Is this an essential gene?||Possibly essential (E-score: 0.592)|
|Stock #||R2080 (G1)|
|Chromosomal Location||38481109-38785030 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||C to T at 38727013 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000138360 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000169713] [ENSMUST00000182267] [ENSMUST00000182481]|
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plce1||
(F):5'- GACTAGAAACGTCTCCGACC -3'
(R):5'- CCATATATGCCAGCATGTGATATC -3'
(F):5'- CGACCTGGGGCTGTTCATTAAAAG -3'
(R):5'- GCCAGCATGTGATATCATACTTGC -3'