Incidental Mutation 'R2914:Pip4k2b'
ID254814
Institutional Source Beutler Lab
Gene Symbol Pip4k2b
Ensembl Gene ENSMUSG00000018547
Gene Namephosphatidylinositol-5-phosphate 4-kinase, type II, beta
SynonymsPip5k2b, PI5P4Kbeta, c11
MMRRC Submission 040501-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.304) question?
Stock #R2914 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location97715157-97744704 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 97722434 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 245 (N245K)
Ref Sequence ENSEMBL: ENSMUSP00000018691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018691]
Predicted Effect probably benign
Transcript: ENSMUST00000018691
AA Change: N245K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000018691
Gene: ENSMUSG00000018547
AA Change: N245K

DomainStartEndE-ValueType
PIPKc 67 416 4.49e-156 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144012
Meta Mutation Damage Score 0.0796 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (41/41)
MGI Phenotype 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
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 A G 5: 30,196,994 S679P probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 probably benign Het
Cryl1 T C 14: 57,275,918 E282G probably benign Het
Dbn1 A G 13: 55,482,421 F45L probably damaging Het
Dclre1b T C 3: 103,808,114 M105V probably damaging Het
Defb12 T C 8: 19,114,814 N3D probably benign Het
Eprs G A 1: 185,379,742 probably null Het
Fa2h T C 8: 111,393,649 D35G probably damaging Het
Fdxacb1 C T 9: 50,768,399 A39V probably benign Het
Fras1 G A 5: 96,733,915 R2502K probably benign Het
Grm1 A G 10: 11,079,857 S228P probably benign Het
Il27ra T A 8: 84,031,613 probably benign Het
Lrrtm1 A T 6: 77,244,979 Q473L probably damaging Het
Macf1 T A 4: 123,475,911 I121F probably damaging Het
Mael A T 1: 166,226,610 F188I probably damaging Het
Mapk4 C T 18: 73,935,165 A232T probably benign Het
Mrpl9 C A 3: 94,443,801 T96K probably damaging Het
Musk C A 4: 58,366,938 L511I probably damaging Het
Mutyh G A 4: 116,815,629 D60N probably damaging Het
Nckap5 A T 1: 126,026,537 probably null Het
Nktr T C 9: 121,749,604 probably benign Het
Otud7b C A 3: 96,155,955 A837E probably benign Het
Pigb A T 9: 73,039,778 probably null Het
Ptprd T A 4: 75,947,101 D1464V probably damaging Het
Rab22a A G 2: 173,695,281 N98S probably benign Het
Rictor G T 15: 6,769,995 probably null Het
Rims1 T C 1: 22,805,630 E32G probably damaging Het
Slx4ip A G 2: 137,067,591 probably null Het
Snx19 G A 9: 30,433,532 probably benign Het
Snx29 C T 16: 11,447,453 R516W probably damaging Het
Tcof1 T C 18: 60,816,084 D1253G possibly damaging Het
Tmod1 A T 4: 46,092,259 N203I probably damaging Het
Tmprss15 T C 16: 78,962,190 N880S probably benign Het
Ttn A T 2: 76,769,635 I19065N probably damaging Het
Txk T C 5: 72,724,451 N154S probably damaging Het
Utp20 A G 10: 88,754,475 probably null Het
Vmn1r65 T A 7: 6,009,041 I65F possibly damaging Het
Yes1 T C 5: 32,640,582 S82P probably benign Het
Other mutations in Pip4k2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Pip4k2b APN 11 97744505 missense probably damaging 1.00
IGL01567:Pip4k2b APN 11 97729561 missense probably damaging 0.99
IGL01568:Pip4k2b APN 11 97729552 critical splice donor site probably null
IGL03004:Pip4k2b APN 11 97724474 missense probably damaging 1.00
bigun UTSW 11 97722936 splice site probably benign
yuge UTSW 11 97722434 missense probably benign 0.04
R0119:Pip4k2b UTSW 11 97722936 splice site probably benign
R0657:Pip4k2b UTSW 11 97722936 splice site probably benign
R1223:Pip4k2b UTSW 11 97718894 missense probably damaging 1.00
R1252:Pip4k2b UTSW 11 97744594 missense probably benign 0.45
R3702:Pip4k2b UTSW 11 97729548 splice site probably benign
R4173:Pip4k2b UTSW 11 97722375 missense probably benign 0.06
R4998:Pip4k2b UTSW 11 97722435 missense possibly damaging 0.49
R5084:Pip4k2b UTSW 11 97719743 missense probably damaging 1.00
R5128:Pip4k2b UTSW 11 97718876 missense probably benign 0.01
R6590:Pip4k2b UTSW 11 97729567 missense probably damaging 1.00
R6690:Pip4k2b UTSW 11 97729567 missense probably damaging 1.00
R7104:Pip4k2b UTSW 11 97732716 missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TTTTAGGCAAGGCTCACACC -3'
(R):5'- ACGATTGCTGTCATTACCTGTC -3'

Sequencing Primer
(F):5'- CGACACCACTCTCTCAGCTAGG -3'
(R):5'- CTGTGCATCTGTGTTAAGGATCACTC -3'
Posted On2014-12-29