|Institutional Source||Beutler Lab|
|Gene Name||protein kinase C, iota|
|Synonyms||Pkci, 2310021H13Rik, Prkcl, aPKClambda, PKClambda, Pkcl|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0699 (G1)|
|Chromosomal Location||30995747-31052959 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 31050273 bp|
|Amino Acid Change||Valine to Alanine at position 595 (V595A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103884 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000108249]|
|Predicted Effect||possibly damaging
AA Change: V595A
PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: V595A
|Meta Mutation Damage Score||0.282|
|Coding Region Coverage||
|Validation Efficiency||98% (120/123)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality. Muscle-specific deletion of this gene impairs glucose transport and induces metabolic and diabetic syndromes. Podocyte-specific deletion leads to altered podocyte architecture, proteinuria, and accelerated renal failure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkci||
(F):5'- CCCTCTCGGTTATAAGGTTGGTTGC -3'
(R):5'- ACCGTCCTTCCTCATTAGGAGTGTC -3'
(F):5'- GAACCCACTTTGTGATTAAGAACTC -3'
(R):5'- CTCATTAGGAGTGTCTGGAGAGC -3'