|Institutional Source||Beutler Lab|
|Gene Name||phosphoinositide-3-kinase regulatory subunit 1|
|Synonyms||p55alpha, p85alpha, PI3K, p50alpha|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7507 (G1)|
|Chromosomal Location||101680563-101768217 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 101708982 bp|
|Amino Acid Change||Serine to Leucine at position 147 (S147L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056774 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055518]|
|Predicted Effect||probably benign
AA Change: S147L
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: S147L
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit perinatal lethality associated with hepatic necrosis, chylous ascites, enlarged muscle fibers, calcification of cardiac tissue, and hypoglycemia. Mutants lacking only the major isoform are immunodeficient. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pik3r1||
(F):5'- AGGAACTCCTGCATGTGAGTTG -3'
(R):5'- AGATCCTGCTCTTTAATAGTCCAC -3'
(F):5'- CCTGCATGTGAGTTGGAAATCCC -3'
(R):5'- GCTCTTTAATAGTCCACTGGATTTG -3'