|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta|
|Is this an essential gene?||Possibly non essential (E-score: 0.265)|
|Stock #||R2067 (G1)|
|Chromosomal Location||133045667-133108687 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 133099611 bp|
|Amino Acid Change||Serine to Proline at position 1283 (S1283P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000076911 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000077730]|
|Predicted Effect||probably damaging
AA Change: S1283P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S1283P
|Meta Mutation Damage Score||0.28|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
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 sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pik3c2b||
(F):5'- TTCCCTAAGGGCATCCAGAC -3'
(R):5'- GGCCTTAACGTTTGGGCTAAG -3'
(F):5'- CAGACAACCCAGGGACAGTG -3'
(R):5'- GCTAAGCCTGTCCCACTG -3'