|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol-5-phosphate 4-kinase, type II, beta|
|Synonyms||Pip5k2b, PI5P4Kbeta, c11|
|Is this an essential gene?||Probably non essential (E-score: 0.234)|
|Stock #||R1223 (G1)|
|Chromosomal Location||97715157-97744704 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 97718894 bp (GRCm38)|
|Amino Acid Change||Arginine to Cysteine at position 406 (R406C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018691 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018691]|
AA Change: R406C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R406C
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are smaller than normal with less body fat and an increased sensitivity to insulin. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pip4k2b||
(F):5'- GCAGTCCCTTAACTAAAGCCCTCG -3'
(R):5'- AGCTCTGATGTGACATACAAGCCAC -3'
(F):5'- TTAACTAAAGCCCTCGCAAGC -3'
(R):5'- gtttgtttgtttgtttgtttgtttTC -3'