Incidental Mutation 'R6019:Pip4k2c'
ID 478806
Institutional Source Beutler Lab
Gene Symbol Pip4k2c
Ensembl Gene ENSMUSG00000025417
Gene Name phosphatidylinositol-5-phosphate 4-kinase, type II, gamma
Synonyms Pip5k2c
MMRRC Submission 044193-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6019 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127032936-127047454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127034943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 419 (I419T)
Ref Sequence ENSEMBL: ENSMUSP00000013970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013970] [ENSMUST00000038217] [ENSMUST00000116229] [ENSMUST00000130855] [ENSMUST00000137151] [ENSMUST00000144322]
AlphaFold Q91XU3
Predicted Effect probably damaging
Transcript: ENSMUST00000013970
AA Change: I419T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417
AA Change: I419T

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
low complexity region 27 41 N/A INTRINSIC
PIPKc 72 420 2.3e-172 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038217
SMART Domains Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
low complexity region 64 72 N/A INTRINSIC
coiled coil region 73 104 N/A INTRINSIC
low complexity region 119 154 N/A INTRINSIC
RING 164 202 1.04e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116229
SMART Domains Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
low complexity region 64 72 N/A INTRINSIC
coiled coil region 73 104 N/A INTRINSIC
low complexity region 119 154 N/A INTRINSIC
RING 164 202 1.04e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125254
Predicted Effect probably benign
Transcript: ENSMUST00000130855
SMART Domains Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
low complexity region 67 75 N/A INTRINSIC
coiled coil region 76 107 N/A INTRINSIC
low complexity region 122 157 N/A INTRINSIC
RING 167 205 1.04e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181578
Predicted Effect probably benign
Transcript: ENSMUST00000144322
SMART Domains Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
low complexity region 67 75 N/A INTRINSIC
coiled coil region 76 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219079
Meta Mutation Damage Score 0.8200 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 96% (81/84)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele develop enhanced immune responses associated with T cell hyperactivation, increased T cell proliferation, increased immune infiltrates in various tissues, increased plasma cytokine levels, and increased mTORC1 signaling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,201 (GRCm39) H436Y possibly damaging Het
Acad10 A T 5: 121,772,864 (GRCm39) H472Q possibly damaging Het
Ano8 G A 8: 71,935,024 (GRCm39) R393C probably damaging Het
Arhgap18 T A 10: 26,736,646 (GRCm39) V163E probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacng5 T C 11: 107,775,214 (GRCm39) M52V probably benign Het
Casz1 T C 4: 149,031,495 (GRCm39) C1249R probably damaging Het
Cenpj C T 14: 56,772,272 (GRCm39) S1086N probably benign Het
Chi3l1 T C 1: 134,117,310 (GRCm39) F367S probably benign Het
Copg2 A T 6: 30,787,868 (GRCm39) I610N possibly damaging Het
Cpa6 T C 1: 10,665,868 (GRCm39) K57E possibly damaging Het
D5Ertd579e C T 5: 36,787,036 (GRCm39) A111T possibly damaging Het
Dgat2 A G 7: 98,803,838 (GRCm39) M361T probably benign Het
Dnm3 G T 1: 161,962,070 (GRCm39) F46L probably damaging Het
Dph7 T A 2: 24,853,552 (GRCm39) C122* probably null Het
Dspp A T 5: 104,325,905 (GRCm39) D756V unknown Het
Efcab3 T C 11: 104,933,728 (GRCm39) probably null Het
Ep300 T A 15: 81,525,583 (GRCm39) M1469K unknown Het
Fsip2 T C 2: 82,818,283 (GRCm39) I4672T possibly damaging Het
Gapdh A T 6: 125,139,996 (GRCm39) L67* probably null Het
Gpr75 A G 11: 30,841,640 (GRCm39) R182G probably benign Het
Gsr G T 8: 34,183,835 (GRCm39) A366S probably damaging Het
Gypc A G 18: 32,663,248 (GRCm39) I33T probably damaging Het
Hapln1 A G 13: 89,756,219 (GRCm39) D341G probably benign Het
Hnrnpd A G 5: 100,115,095 (GRCm39) S148P probably benign Het
Hydin A T 8: 111,293,252 (GRCm39) T3450S probably benign Het
Kif20b T C 19: 34,927,864 (GRCm39) V1002A probably benign Het
Kif5c T C 2: 49,625,521 (GRCm39) V597A probably benign Het
Kntc1 A G 5: 123,900,579 (GRCm39) T226A probably benign Het
Krt75 C A 15: 101,482,158 (GRCm39) V37L probably benign Het
L3mbtl2 A G 15: 81,571,143 (GRCm39) I668V probably benign Het
Lrp1b G A 2: 41,192,982 (GRCm39) A480V probably damaging Het
Lrp1b T A 2: 41,366,821 (GRCm39) D485V probably damaging Het
Lrrc37a T C 11: 103,347,422 (GRCm39) H3091R unknown Het
Msi1 A G 5: 115,589,550 (GRCm39) Y361C probably damaging Het
Mtus1 G T 8: 41,536,077 (GRCm39) N546K probably benign Het
Mup17 T A 4: 61,511,936 (GRCm39) T113S probably benign Het
Myh11 T A 16: 14,023,938 (GRCm39) D1479V probably damaging Het
Ncor1 C T 11: 62,263,987 (GRCm39) E198K probably benign Het
Nrde2 A G 12: 100,098,501 (GRCm39) V722A probably benign Het
Or13a28 T C 7: 140,217,925 (GRCm39) F104L probably benign Het
Or51f23 C T 7: 102,453,491 (GRCm39) R269* probably null Het
Or5ac24 C T 16: 59,165,798 (GRCm39) D89N possibly damaging Het
Otog A G 7: 45,938,374 (GRCm39) M2028V probably benign Het
Paox T A 7: 139,711,655 (GRCm39) V169E probably damaging Het
Pcsk9 T G 4: 106,314,073 (GRCm39) D174A probably benign Het
Pde4b A G 4: 102,427,966 (GRCm39) E41G possibly damaging Het
Plekhg3 G T 12: 76,624,715 (GRCm39) E1186* probably null Het
Pole C A 5: 110,472,380 (GRCm39) P1548T probably benign Het
Pole C T 5: 110,472,381 (GRCm39) P1548L probably benign Het
Polq A G 16: 36,882,126 (GRCm39) E1430G probably damaging Het
Potefam3c A T 8: 69,881,966 (GRCm39) C337S probably benign Het
Pramel47 G A 5: 95,488,072 (GRCm39) S2N probably damaging Het
Ptgr2 T C 12: 84,344,920 (GRCm39) S98P probably damaging Het
Ralgapa1 A G 12: 55,730,827 (GRCm39) Y1903H possibly damaging Het
Rasgrp1 T C 2: 117,122,376 (GRCm39) D338G probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnase13 C T 14: 52,159,860 (GRCm39) C93Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
S100z T A 13: 95,613,934 (GRCm39) M59L probably benign Het
Ska1 T A 18: 74,332,992 (GRCm39) D142V probably benign Het
Slc16a3 T C 11: 120,847,931 (GRCm39) probably null Het
Snd1 T C 6: 28,880,233 (GRCm39) V669A probably benign Het
Snrpd3 A T 10: 75,368,029 (GRCm39) T49S probably damaging Het
Sort1 T C 3: 108,264,549 (GRCm39) L856P possibly damaging Het
Srek1ip1 T A 13: 104,970,830 (GRCm39) probably null Het
Ssrp1 T C 2: 84,875,796 (GRCm39) S552P probably damaging Het
Stab2 A G 10: 86,838,886 (GRCm39) V60A probably benign Het
Stard9 GCCC GCC 2: 120,524,196 (GRCm39) probably null Het
Tll1 A C 8: 64,494,525 (GRCm39) H743Q possibly damaging Het
Tpo G T 12: 30,144,980 (GRCm39) R590S possibly damaging Het
Trbv12-1 A T 6: 41,090,780 (GRCm39) T51S probably benign Het
Trbv30 C T 6: 41,258,708 (GRCm39) A40V probably benign Het
Tulp4 T A 17: 6,283,490 (GRCm39) V1173E possibly damaging Het
Upk1a A T 7: 30,311,810 (GRCm39) probably null Het
Vinac1 T C 2: 128,879,610 (GRCm39) Q772R probably benign Het
Vmn1r199 A G 13: 22,566,769 (GRCm39) D21G possibly damaging Het
Vmn2r7 T C 3: 64,623,643 (GRCm39) T317A probably damaging Het
Wdfy3 A G 5: 101,997,289 (GRCm39) V3112A probably damaging Het
Zbtb8os T C 4: 129,234,542 (GRCm39) V40A possibly damaging Het
Zfp1002 T A 2: 150,097,132 (GRCm39) H99L probably damaging Het
Zwint A G 10: 72,492,685 (GRCm39) K108E possibly damaging Het
Other mutations in Pip4k2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01467:Pip4k2c APN 10 127,035,498 (GRCm39) missense probably benign 0.24
R0281:Pip4k2c UTSW 10 127,041,690 (GRCm39) splice site probably null
R0433:Pip4k2c UTSW 10 127,044,815 (GRCm39) missense probably benign 0.33
R0834:Pip4k2c UTSW 10 127,036,704 (GRCm39) splice site probably benign
R1170:Pip4k2c UTSW 10 127,047,262 (GRCm39) missense unknown
R1851:Pip4k2c UTSW 10 127,036,744 (GRCm39) missense probably damaging 1.00
R2082:Pip4k2c UTSW 10 127,034,958 (GRCm39) missense probably damaging 0.97
R4750:Pip4k2c UTSW 10 127,047,286 (GRCm39) missense unknown
R4915:Pip4k2c UTSW 10 127,035,196 (GRCm39) missense possibly damaging 0.79
R4916:Pip4k2c UTSW 10 127,035,196 (GRCm39) missense possibly damaging 0.79
R4918:Pip4k2c UTSW 10 127,035,196 (GRCm39) missense possibly damaging 0.79
R4985:Pip4k2c UTSW 10 127,035,244 (GRCm39) missense probably benign 0.05
R7525:Pip4k2c UTSW 10 127,044,773 (GRCm39) missense probably damaging 0.99
R7586:Pip4k2c UTSW 10 127,034,955 (GRCm39) missense probably damaging 1.00
R8793:Pip4k2c UTSW 10 127,042,530 (GRCm39) missense probably damaging 0.99
R8829:Pip4k2c UTSW 10 127,037,037 (GRCm39) missense probably damaging 0.96
R8832:Pip4k2c UTSW 10 127,037,037 (GRCm39) missense probably damaging 0.96
R8942:Pip4k2c UTSW 10 127,036,084 (GRCm39) missense probably benign 0.00
R9189:Pip4k2c UTSW 10 127,035,246 (GRCm39) missense possibly damaging 0.78
R9610:Pip4k2c UTSW 10 127,036,069 (GRCm39) missense probably damaging 1.00
R9611:Pip4k2c UTSW 10 127,036,069 (GRCm39) missense probably damaging 1.00
R9648:Pip4k2c UTSW 10 127,041,569 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTCCCGAAGATGGCAAAC -3'
(R):5'- AAGAACGCTTCTGGGGTCAG -3'

Sequencing Primer
(F):5'- GCTCCTCCTATTTCATAGAAACAAG -3'
(R):5'- TCAGAGTAGTGGGATGGCTGAG -3'
Posted On 2017-06-26