|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol-5-phosphate 4-kinase, type II, alpha|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7598 (G1)|
|Chromosomal Location||18842255-18998126 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 18872287 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 212 (L212F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006912 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006912]|
|Predicted Effect||possibly damaging
AA Change: L212F
PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: L212F
AA Change: L114F
|Meta Mutation Damage Score||0.8766|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and appear phenotypically normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pip4k2a||
(F):5'- GCATGTGGTACTACATGGCATG -3'
(R):5'- CGATACACCACGTTTTGACAGC -3'
(F):5'- ACTACATGGCATGTGGCTGAC -3'
(R):5'- ACACCACGTTTTGACAGCTACTTTTC -3'