|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma|
|Is this an essential gene?||Probably non essential (E-score: 0.128)|
|Stock #||R7213 (G1)|
|Chromosomal Location||139587221-139969284 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 139860264 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 604 (I604F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000107499 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087657] [ENSMUST00000111868] [ENSMUST00000218528]|
|Predicted Effect||probably damaging
AA Change: I236F
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I236F
AA Change: I604F
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
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. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allelel exhibit reduced liver glucogen accumulation, hyperlipidemia, adiposity and insulin resistance with age or after consumption of a high-fat diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pik3c2g||
(F):5'- ACACACATGGATTGATAGGTAGTAG -3'
(R):5'- GGATTTGACACAAGTTATTTGCTAGGC -3'
(F):5'- TAGATAGGTAGATGGATAGTCAG -3'
(R):5'- AGGCTCCTTTTCCATTACATGCTAG -3'