|Institutional Source||Beutler Lab|
|Gene Name||phosphoinositide-3-kinase regulatory subunit 2|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6794 (G1)|
|Chromosomal Location||70768176-70776713 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 70770717 bp (GRCm38)|
|Amino Acid Change||Histidine to Arginine at position 380 (H380R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034296 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034296] [ENSMUST00000143785]|
|PDB Structure||CRYSTAL STRUCTURE OF P110BETA IN COMPLEX WITH ICSH2 OF P85BETA AND THE DRUG GDC-0941 [X-RAY DIFFRACTION]|
AA Change: H380R
PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: H380R
|Coding Region Coverage||
|Validation Efficiency||100% (37/37)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene have lower blood glucose levels both when fed and after fasting. Insulin sensitivity is improved as well. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pik3r2||
(F):5'- TGGTCCTGGATCCCAAACAC -3'
(R):5'- TTCTTAGTCAGAGATGCATCCAG -3'
(F):5'- ACAACCATCAGTGCTTCCCTC -3'
(R):5'- TCCAGCAAGATCCAAGGAGAGTAC -3'