|Institutional Source||Beutler Lab|
|Gene Name||protein kinase C, eta|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0127 (G1)|
|Chromosomal Location||73584796-73778185 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 73721787 bp|
|Amino Acid Change||Histidine to Asparagine at position 444 (H444N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021527 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021527] [ENSMUST00000221153]|
|Predicted Effect||possibly damaging
AA Change: H444N
PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: H444N
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.428|
|Coding Region Coverage||
|Validation Efficiency||99% (85/86)|
FUNCTION: 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. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in the human gene are associated with susceptibility to cerebral infarction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit thymus hypoplasia, enlarged lymph nodes and alterations in T cell homeostasis and activation. Mice homozygous for a different knock-out allele show impaired wound healing and increased incidence of tumors by chemical induction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkch||
(F):5'- AACCCTGTGTGCTCCACTGAAGAC -3'
(R):5'- GCAAATGCTGGCTGAACCAATCC -3'
(F):5'- GTGCTCCACTGAAGACATTTG -3'
(R):5'- CTAATGAATACTTGGGCCTTCTG -3'