|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R2015 (G1)|
|Chromosomal Location||116337265-116443449 bp(-) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||T to A at 116350931 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000146181 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000170430] [ENSMUST00000206219]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9500|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pik3c2a||
(F):5'- TGTAAAGACGGTTACCAGTGAG -3'
(R):5'- CCACTGTTGAATATGTCTTTGAGG -3'
(F):5'- CGGTTACCAGTGAGAGAAGGTTAAG -3'
(R):5'- TCTGTTCCAATGATGAAGTTGC -3'