Incidental Mutation 'IGL01682:Pip4k2a'
ID103841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pip4k2a
Ensembl Gene ENSMUSG00000026737
Gene Namephosphatidylinositol-5-phosphate 4-kinase, type II, alpha
SynonymsPip5k2a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01682
Quality Score
Status
Chromosome2
Chromosomal Location18842255-18998126 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18997968 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 10 (S10P)
Ref Sequence ENSEMBL: ENSMUSP00000006912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006912] [ENSMUST00000028069]
Predicted Effect probably benign
Transcript: ENSMUST00000006912
AA Change: S10P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006912
Gene: ENSMUSG00000026737
AA Change: S10P

DomainStartEndE-ValueType
PIPKc 62 405 1.19e-169 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028069
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo T C 12: 37,357,627 probably benign Het
Atp2c1 C T 9: 105,452,842 G93D probably damaging Het
C2cd6 T G 1: 59,062,501 Y333S probably damaging Het
Cacna1a A G 8: 84,536,438 E414G possibly damaging Het
Capn10 C A 1: 92,940,384 T191K probably benign Het
Cd226 A T 18: 89,269,063 R328S probably damaging Het
Cdk10 A G 8: 123,227,658 probably null Het
Cyp4a31 T A 4: 115,578,031 V486D probably damaging Het
Dgke A T 11: 89,052,441 L241I probably damaging Het
Dnah6 G T 6: 73,075,802 A2965E probably damaging Het
Fbn2 A T 18: 58,072,671 C1112S probably damaging Het
Gm10228 T A 16: 89,041,185 Y77F unknown Het
Gng3 T C 19: 8,838,580 I25V probably benign Het
Gramd2 A G 9: 59,712,110 I61M possibly damaging Het
Hcar2 T C 5: 123,864,519 N307S probably benign Het
Iars G A 13: 49,709,658 E529K probably damaging Het
Ilvbl C T 10: 78,577,107 probably benign Het
Lrp1 T C 10: 127,574,978 K1447R probably benign Het
Mmp20 A G 9: 7,671,375 D426G probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr1289 G A 2: 111,483,843 G138S probably damaging Het
Olfr568 C T 7: 102,877,233 L38F probably benign Het
Pth1r A T 9: 110,723,706 probably null Het
Rprd1b T C 2: 158,050,160 I201T probably damaging Het
Rsbn1 A G 3: 103,962,380 N719S probably benign Het
Sorcs1 C T 19: 50,181,506 G939E probably benign Het
Ssfa2 A G 2: 79,635,637 Q33R probably damaging Het
St8sia5 A G 18: 77,248,500 K210E probably damaging Het
Trav3-1 G A 14: 52,581,192 V108M probably benign Het
Washc4 T C 10: 83,580,306 I820T possibly damaging Het
Other mutations in Pip4k2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Pip4k2a APN 2 18872336 missense probably benign 0.10
IGL02379:Pip4k2a APN 2 18866111 critical splice donor site probably null
R0096:Pip4k2a UTSW 2 18889039 splice site probably benign
R0184:Pip4k2a UTSW 2 18889128 missense probably damaging 0.96
R0514:Pip4k2a UTSW 2 18845936 missense probably damaging 0.99
R1673:Pip4k2a UTSW 2 18872282 critical splice donor site probably null
R1779:Pip4k2a UTSW 2 18847622 missense probably benign 0.27
R2198:Pip4k2a UTSW 2 18847655 missense probably damaging 0.98
R4555:Pip4k2a UTSW 2 18872292 missense probably damaging 0.99
R5408:Pip4k2a UTSW 2 18906308 missense probably benign 0.03
R7598:Pip4k2a UTSW 2 18872287 missense possibly damaging 0.50
Posted On2014-01-21