|Institutional Source||Beutler Lab|
|Gene Name||protein kinase C, alpha|
|Is this an essential gene?||Possibly essential (E-score: 0.595)|
|Stock #||R1795 (G1)|
|Chromosomal Location||107933387-108343928 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 108012692 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 285 (Y285N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062392 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059595]|
|Predicted Effect||possibly damaging
AA Change: Y285N
PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: Y285N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2479|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show no overt macroscopic abnormalities, however examination of one line revealed increased cardiac muscle contractility and protection against heart failure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkca||
(F):5'- GGAAAATTGCTTTGGGCTTCC -3'
(R):5'- AGCATGTTGCCATATCCCAG -3'
(F):5'- TTCCCAGTGGTGTCGCAAG -3'
(R):5'- CATATCCCAGGTGGCTGAGAG -3'