Incidental Mutation 'IGL00704:Pip4k2a'
ID13019
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 #IGL00704
Quality Score
Status
Chromosome2
Chromosomal Location18842255-18998126 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 18872336 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 196 (T196K)
Ref Sequence ENSEMBL: ENSMUSP00000006912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006912]
Predicted Effect probably benign
Transcript: ENSMUST00000006912
AA Change: T196K

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000006912
Gene: ENSMUSG00000026737
AA Change: T196K

DomainStartEndE-ValueType
PIPKc 62 405 1.19e-169 SMART
Predicted Effect unknown
Transcript: ENSMUST00000152981
AA Change: T98K
SMART Domains Protein: ENSMUSP00000119075
Gene: ENSMUSG00000026737
AA Change: T98K

DomainStartEndE-ValueType
Pfam:PIP5K 18 198 1.4e-43 PFAM
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,686,257 I217F probably benign Het
Agfg1 C T 1: 82,858,403 T3I probably damaging Het
Anapc1 A T 2: 128,663,984 V644E possibly damaging Het
Casd1 A T 6: 4,607,979 probably benign Het
Chd1 T C 17: 15,732,565 V369A probably benign Het
Cul2 T C 18: 3,423,487 V299A probably benign Het
Helz2 A G 2: 181,234,385 C1439R probably damaging Het
Mfsd11 T C 11: 116,858,496 F59L probably benign Het
Nlrp4e A T 7: 23,343,140 D817V probably damaging Het
Phf3 C T 1: 30,804,838 G1680D probably benign Het
Plxna2 T A 1: 194,751,461 V606E probably damaging Het
Slc4a2 A C 5: 24,439,068 I931L probably damaging Het
Stk32a T C 18: 43,261,249 Y88H probably damaging Het
Uba2 T C 7: 34,158,869 N54S probably damaging Het
Other mutations in Pip4k2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01682:Pip4k2a APN 2 18997968 missense probably benign
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 On2012-12-06