|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta|
|Is this an essential gene?||Probably essential (E-score: 0.965)|
|Stock #||R4009 (G1)|
|Chromosomal Location||99036654-99140621 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 99040929 bp|
|Amino Acid Change||Tyrosine to Histidine at position 1017 (Y1017H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035037 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035037] [ENSMUST00000136965]|
CRYSTAL STRUCTURE OF P110BETA IN COMPLEX WITH ICSH2 OF P85BETA AND THE DRUG GDC-0941 [X-RAY DIFFRACTION]
Discovery and Optimization of Pyrimidone Indoline Amide PI3Kbeta Inhibitors for the Treatment of Phosphatase and TENsin homologue (PTEN)-Deficient Cancers [X-RAY DIFFRACTION]
|Predicted Effect||probably damaging
AA Change: Y1017H
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: Y1017H
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit 30% fetal lethality, decreased size at birth and postnatally, abnormal glucose homeostasis, and dyslipidemia. Mice homozygous for a different knock-out allele die prior to E8.5 [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pik3cb||
(F):5'- ATCAGATCTTGAGCAGGGAGTTG -3'
(R):5'- ATGCCCTCGCTCTAAAGGTG -3'
(F):5'- AACTCAGAGCTTCAGTCTTGGCAG -3'
(R):5'- AAGGTGTCTTGTTTTCCTTTGCAAAC -3'