|Institutional Source||Beutler Lab|
|Gene Name||protein kinase C, theta|
|Synonyms||PKC theta, PKC-0, PKCtheta, PKC-theta, A130035A12Rik, Pkcq|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1687 (G1)|
|Chromosomal Location||11172108-11301222 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 11290533 bp|
|Amino Acid Change||Tyrosine to Histidine at position 598 (Y598H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028118 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028118] [ENSMUST00000102970]|
|Predicted Effect||probably damaging
AA Change: Y598H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y598H
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|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. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkcq||
(F):5'- ACGTACTGATGATGCTCTGCTTTCG -3'
(R):5'- TGCTTAAAGAGCCAGAGTCACCAAG -3'
(F):5'- ACGTACTAATGATGCTCTCTCTG -3'
(R):5'- caaacgtaacagtagaggcatc -3'