Incidental Mutation 'R1252:Pip4k2b'
ID 151808
Institutional Source Beutler Lab
Gene Symbol Pip4k2b
Ensembl Gene ENSMUSG00000018547
Gene Name phosphatidylinositol-5-phosphate 4-kinase, type II, beta
Synonyms c11, PI5P4Kbeta, Pip5k2b
MMRRC Submission 039319-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R1252 (G1)
Quality Score 96
Status Not validated
Chromosome 11
Chromosomal Location 97605983-97635530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97635420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 4 (N4S)
Ref Sequence ENSEMBL: ENSMUSP00000018691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018685] [ENSMUST00000018691]
AlphaFold Q80XI4
Predicted Effect probably benign
Transcript: ENSMUST00000018685
SMART Domains Protein: ENSMUSP00000018685
Gene: ENSMUSG00000018541

DomainStartEndE-ValueType
Cir_N 11 47 8.52e-14 SMART
Pfam:CWC25 66 157 8.2e-24 PFAM
coiled coil region 159 187 N/A INTRINSIC
low complexity region 251 269 N/A INTRINSIC
low complexity region 274 293 N/A INTRINSIC
coiled coil region 329 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000018691
AA Change: N4S

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018691
Gene: ENSMUSG00000018547
AA Change: N4S

DomainStartEndE-ValueType
PIPKc 67 416 4.49e-156 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124356
Predicted Effect probably benign
Transcript: ENSMUST00000152395
SMART Domains Protein: ENSMUSP00000122738
Gene: ENSMUSG00000018541

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 27 46 N/A INTRINSIC
coiled coil region 81 117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184148
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.2%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acsm2 C T 7: 119,172,468 (GRCm39) H104Y probably benign Het
Adgrb3 G A 1: 25,167,909 (GRCm39) T1009M probably damaging Het
Arfgef2 A G 2: 166,701,877 (GRCm39) K755E probably damaging Het
Atm A T 9: 53,367,140 (GRCm39) D2491E probably damaging Het
Bptf A G 11: 106,964,077 (GRCm39) S1706P probably benign Het
Capn13 C T 17: 73,674,222 (GRCm39) G77D possibly damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cdhr18 T C 14: 13,862,444 (GRCm38) D370G probably benign Het
Cep135 A G 5: 76,741,962 (GRCm39) K133E possibly damaging Het
Cyp2c67 A G 19: 39,614,585 (GRCm39) M314T possibly damaging Het
Dennd5b T C 6: 148,945,985 (GRCm39) D542G probably damaging Het
Dpys A T 15: 39,687,636 (GRCm39) N387K probably damaging Het
Erc1 A T 6: 119,720,353 (GRCm39) D749E possibly damaging Het
Gucy2e A T 11: 69,126,485 (GRCm39) F298L probably benign Het
Igsf10 A G 3: 59,239,269 (GRCm39) V304A probably benign Het
Kmt2b A T 7: 30,279,912 (GRCm39) C1363S probably damaging Het
Krt87 A G 15: 101,385,711 (GRCm39) Y295H probably damaging Het
Lmo7 T C 14: 102,138,019 (GRCm39) V396A probably damaging Het
Lpl A G 8: 69,345,311 (GRCm39) D105G probably benign Het
Lrrc45 C A 11: 120,606,297 (GRCm39) T135N probably benign Het
Ltn1 C T 16: 87,212,918 (GRCm39) A548T probably benign Het
Nectin2 T G 7: 19,451,523 (GRCm39) I504L probably benign Het
Nmbr T C 10: 14,636,187 (GRCm39) I52T probably benign Het
Nop14 A T 5: 34,807,899 (GRCm39) N354K probably benign Het
Olfm1 A G 2: 28,119,447 (GRCm39) I361V probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Ovol1 T C 19: 5,603,629 (GRCm39) T91A probably benign Het
Pigz T A 16: 31,760,808 (GRCm39) V3E possibly damaging Het
Slc23a2 A T 2: 131,904,117 (GRCm39) probably null Het
Slc66a2 A G 18: 80,334,813 (GRCm39) T211A possibly damaging Het
Speg A T 1: 75,403,739 (GRCm39) D2640V probably damaging Het
Trip12 G A 1: 84,754,071 (GRCm39) Q111* probably null Het
Trub2 A G 2: 29,672,170 (GRCm39) F141S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wdfy4 A T 14: 32,693,729 (GRCm39) probably null Het
Zfp935 A G 13: 62,602,355 (GRCm39) F282L probably damaging Het
Zfp946 G T 17: 22,672,560 (GRCm39) probably null Het
Zkscan4 A G 13: 21,668,044 (GRCm39) E165G probably benign Het
Other mutations in Pip4k2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Pip4k2b APN 11 97,635,331 (GRCm39) missense probably damaging 1.00
IGL01567:Pip4k2b APN 11 97,620,387 (GRCm39) missense probably damaging 0.99
IGL01568:Pip4k2b APN 11 97,620,378 (GRCm39) critical splice donor site probably null
IGL03004:Pip4k2b APN 11 97,615,300 (GRCm39) missense probably damaging 1.00
bigun UTSW 11 97,613,762 (GRCm39) splice site probably benign
yuge UTSW 11 97,613,260 (GRCm39) missense probably benign 0.04
R0119:Pip4k2b UTSW 11 97,613,762 (GRCm39) splice site probably benign
R0657:Pip4k2b UTSW 11 97,613,762 (GRCm39) splice site probably benign
R1223:Pip4k2b UTSW 11 97,609,720 (GRCm39) missense probably damaging 1.00
R2914:Pip4k2b UTSW 11 97,613,260 (GRCm39) missense probably benign 0.04
R3702:Pip4k2b UTSW 11 97,620,374 (GRCm39) splice site probably benign
R4173:Pip4k2b UTSW 11 97,613,201 (GRCm39) missense probably benign 0.06
R4998:Pip4k2b UTSW 11 97,613,261 (GRCm39) missense possibly damaging 0.49
R5084:Pip4k2b UTSW 11 97,610,569 (GRCm39) missense probably damaging 1.00
R5128:Pip4k2b UTSW 11 97,609,702 (GRCm39) missense probably benign 0.01
R6590:Pip4k2b UTSW 11 97,620,393 (GRCm39) missense probably damaging 1.00
R6690:Pip4k2b UTSW 11 97,620,393 (GRCm39) missense probably damaging 1.00
R7104:Pip4k2b UTSW 11 97,623,542 (GRCm39) missense possibly damaging 0.83
R7676:Pip4k2b UTSW 11 97,611,188 (GRCm39) missense probably benign 0.02
R9161:Pip4k2b UTSW 11 97,615,245 (GRCm39) missense possibly damaging 0.87
R9277:Pip4k2b UTSW 11 97,613,272 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGGGGAAGCTGGTTACCGTGT -3'
(R):5'- TAGGGAGCCCTTCTTGCCGAGT -3'

Sequencing Primer
(F):5'- GTGGTTCACCCCCCACATC -3'
(R):5'- TACCATTCCGACGGGGAGG -3'
Posted On 2014-01-29