Incidental Mutation 'R5062:Pi4ka'
ID 462761
Institutional Source Beutler Lab
Gene Symbol Pi4ka
Ensembl Gene ENSMUSG00000041720
Gene Name phosphatidylinositol 4-kinase alpha
Synonyms Pik4ca
MMRRC Submission 042652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5062 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17098215-17224178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 17127261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 1064 (A1064E)
Ref Sequence ENSEMBL: ENSMUSP00000156049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000139768] [ENSMUST00000154364] [ENSMUST00000231651] [ENSMUST00000232232]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036161
AA Change: A1064E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: A1064E

DomainStartEndE-ValueType
low complexity region 198 221 N/A INTRINSIC
low complexity region 243 253 N/A INTRINSIC
SCOP:d1gw5a_ 268 675 2e-3 SMART
low complexity region 895 907 N/A INTRINSIC
PI3Ka 1483 1671 2.11e-54 SMART
Blast:PI3Kc 1688 1762 2e-39 BLAST
PI3Kc 1788 2041 4.04e-106 SMART
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000154364
AA Change: A1064E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: A1064E

DomainStartEndE-ValueType
low complexity region 198 221 N/A INTRINSIC
low complexity region 243 253 N/A INTRINSIC
SCOP:d1gw5a_ 268 675 2e-3 SMART
low complexity region 895 907 N/A INTRINSIC
PI3Ka 1483 1671 2.11e-54 SMART
Blast:PI3Kc 1688 1762 2e-39 BLAST
PI3Kc 1788 2041 4.04e-106 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231651
Predicted Effect probably benign
Transcript: ENSMUST00000231683
Predicted Effect probably benign
Transcript: ENSMUST00000232232
AA Change: A1064E

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000232404
Meta Mutation Damage Score 0.0594 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,067,892 (GRCm39) I1593N probably benign Het
Akr1b10 G T 6: 34,369,041 (GRCm39) K173N probably damaging Het
Artn A T 4: 117,784,873 (GRCm39) L3Q probably damaging Het
Asxl3 T A 18: 22,655,775 (GRCm39) S1262T possibly damaging Het
Atp6v0a4 A T 6: 38,051,118 (GRCm39) M420K probably benign Het
Bcam T A 7: 19,494,026 (GRCm39) T422S possibly damaging Het
Casp2 C T 6: 42,246,206 (GRCm39) probably benign Het
Ccdc137 A G 11: 120,353,341 (GRCm39) probably benign Het
Cd177 C A 7: 24,443,741 (GRCm39) A786S probably benign Het
Cdca4 T C 12: 112,785,483 (GRCm39) N82D probably benign Het
Clu A C 14: 66,217,177 (GRCm39) T337P probably damaging Het
Col6a3 A C 1: 90,707,074 (GRCm39) I2013S unknown Het
Cpne9 T A 6: 113,281,449 (GRCm39) M510K probably damaging Het
Cyp3a13 A C 5: 137,897,161 (GRCm39) N384K possibly damaging Het
Fam186a A C 15: 99,842,527 (GRCm39) I1239S possibly damaging Het
Fryl T C 5: 73,233,236 (GRCm39) E413G possibly damaging Het
Fscn2 A C 11: 120,257,575 (GRCm39) Y312S probably damaging Het
Fshr A T 17: 89,293,474 (GRCm39) C401* probably null Het
Glyat A C 19: 12,627,627 (GRCm39) Q74P probably damaging Het
Gm6158 A T 14: 24,120,158 (GRCm39) noncoding transcript Het
Grm7 A G 6: 110,623,097 (GRCm39) N90S probably damaging Het
Hectd1 A T 12: 51,791,662 (GRCm39) C2536S probably damaging Het
Herc3 C T 6: 58,832,745 (GRCm39) Q137* probably null Het
Kctd3 A C 1: 188,727,890 (GRCm39) probably benign Het
Klhl30 A G 1: 91,283,300 (GRCm39) T301A probably benign Het
Klra9 T C 6: 130,156,072 (GRCm39) K228E possibly damaging Het
Lamc3 A T 2: 31,795,679 (GRCm39) T355S possibly damaging Het
Lcmt1 A C 7: 123,010,053 (GRCm39) probably null Het
Limch1 C T 5: 67,126,578 (GRCm39) P60S probably damaging Het
Lrfn2 A G 17: 49,377,528 (GRCm39) D203G probably damaging Het
Mc5r T C 18: 68,472,352 (GRCm39) L237P probably damaging Het
Mknk2 G A 10: 80,507,603 (GRCm39) R58W probably damaging Het
Mrgpra2b T C 7: 47,152,676 (GRCm39) probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Nae1 A T 8: 105,243,334 (GRCm39) C395S possibly damaging Het
Ncoa1 A G 12: 4,309,333 (GRCm39) M1321T probably damaging Het
Neb A C 2: 52,170,513 (GRCm39) F1720V possibly damaging Het
Nectin2 C T 7: 19,472,198 (GRCm39) V64I probably benign Het
Nisch T A 14: 30,894,397 (GRCm39) T1145S probably damaging Het
Nlrp5 A T 7: 23,135,335 (GRCm39) R1009* probably null Het
Or12d13 A T 17: 37,647,822 (GRCm39) H100Q probably damaging Het
Or4k15 T A 14: 50,364,894 (GRCm39) Y287N probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pak1ip1 A G 13: 41,161,621 (GRCm39) probably benign Het
Pcm1 T C 8: 41,712,297 (GRCm39) V189A probably damaging Het
Peak1 G T 9: 56,167,573 (GRCm39) N118K probably damaging Het
Phgdh T A 3: 98,235,655 (GRCm39) I121F probably damaging Het
Pkhd1 A C 1: 20,655,935 (GRCm39) C199W probably benign Het
Plat A G 8: 23,262,327 (GRCm39) D117G probably benign Het
Ppp2r2b C A 18: 42,821,526 (GRCm39) V211L possibly damaging Het
Ptgs1 A G 2: 36,127,294 (GRCm39) D60G probably damaging Het
Ryr2 T C 13: 11,715,240 (GRCm39) E2776G probably damaging Het
Sema4c C T 1: 36,592,059 (GRCm39) probably null Het
Sharpin T C 15: 76,231,811 (GRCm39) probably benign Het
Slamf6 A G 1: 171,764,100 (GRCm39) I164M possibly damaging Het
Slco1a7 A C 6: 141,713,180 (GRCm39) M67R possibly damaging Het
Spef1 A G 2: 131,015,201 (GRCm39) Y46H probably damaging Het
Spns1 G A 7: 125,973,501 (GRCm39) probably benign Het
Supt5 C T 7: 28,028,440 (GRCm39) probably null Het
Tbx5 T A 5: 119,974,987 (GRCm39) D3E probably damaging Het
Thbs1 T C 2: 117,951,718 (GRCm39) probably null Het
Tmem140 G A 6: 34,849,897 (GRCm39) V138M probably damaging Het
Tmem200a T A 10: 25,869,813 (GRCm39) D152V probably damaging Het
Tmem200b A G 4: 131,649,848 (GRCm39) D256G probably damaging Het
Tns1 A T 1: 73,992,023 (GRCm39) L885Q probably damaging Het
Umod G A 7: 119,071,644 (GRCm39) Q366* probably null Het
Vsir A G 10: 60,200,042 (GRCm39) I208V probably damaging Het
Zfp646 G A 7: 127,479,671 (GRCm39) R616H probably damaging Het
Other mutations in Pi4ka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Pi4ka APN 16 17,126,008 (GRCm39) missense probably benign
IGL00984:Pi4ka APN 16 17,176,796 (GRCm39) nonsense probably null
IGL01066:Pi4ka APN 16 17,166,637 (GRCm39) splice site probably benign
IGL01460:Pi4ka APN 16 17,175,515 (GRCm39) missense probably damaging 1.00
IGL01505:Pi4ka APN 16 17,127,222 (GRCm39) missense probably benign 0.22
IGL01518:Pi4ka APN 16 17,098,599 (GRCm39) missense probably benign 0.03
IGL01533:Pi4ka APN 16 17,126,065 (GRCm39) missense probably benign 0.30
IGL01565:Pi4ka APN 16 17,207,306 (GRCm39) utr 5 prime probably benign
IGL01679:Pi4ka APN 16 17,114,752 (GRCm39) splice site probably benign
IGL01685:Pi4ka APN 16 17,143,066 (GRCm39) missense probably benign 0.09
IGL01734:Pi4ka APN 16 17,115,124 (GRCm39) missense probably benign 0.23
IGL01799:Pi4ka APN 16 17,207,235 (GRCm39) missense probably damaging 1.00
IGL01969:Pi4ka APN 16 17,196,347 (GRCm39) missense probably benign 0.15
IGL02092:Pi4ka APN 16 17,136,360 (GRCm39) missense probably benign 0.00
IGL02113:Pi4ka APN 16 17,191,279 (GRCm39) missense probably benign 0.00
IGL02177:Pi4ka APN 16 17,136,146 (GRCm39) missense probably benign 0.09
IGL02400:Pi4ka APN 16 17,111,748 (GRCm39) missense probably damaging 0.98
IGL02426:Pi4ka APN 16 17,196,296 (GRCm39) splice site probably benign
IGL02474:Pi4ka APN 16 17,143,293 (GRCm39) missense probably damaging 1.00
IGL02587:Pi4ka APN 16 17,135,217 (GRCm39) missense probably damaging 1.00
IGL02667:Pi4ka APN 16 17,113,325 (GRCm39) missense possibly damaging 0.82
IGL02698:Pi4ka APN 16 17,109,032 (GRCm39) missense probably damaging 1.00
IGL02815:Pi4ka APN 16 17,176,753 (GRCm39) splice site probably benign
IGL02828:Pi4ka APN 16 17,098,575 (GRCm39) intron probably benign
IGL02939:Pi4ka APN 16 17,172,074 (GRCm39) missense probably damaging 0.97
IGL03123:Pi4ka APN 16 17,100,539 (GRCm39) missense possibly damaging 0.95
IGL03148:Pi4ka APN 16 17,172,053 (GRCm39) missense probably damaging 0.99
arachnoid UTSW 16 17,103,145 (GRCm39) unclassified probably benign
dove_bar UTSW 16 17,143,916 (GRCm39) splice site probably null
mia UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
Pia UTSW 16 17,098,908 (GRCm39) missense probably damaging 1.00
G1patch:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
IGL03098:Pi4ka UTSW 16 17,143,891 (GRCm39) missense probably damaging 1.00
R0024:Pi4ka UTSW 16 17,133,399 (GRCm39) splice site probably benign
R0054:Pi4ka UTSW 16 17,142,978 (GRCm39) missense probably null 1.00
R0054:Pi4ka UTSW 16 17,142,978 (GRCm39) missense probably null 1.00
R0243:Pi4ka UTSW 16 17,115,499 (GRCm39) missense probably benign 0.44
R0374:Pi4ka UTSW 16 17,100,796 (GRCm39) unclassified probably benign
R0478:Pi4ka UTSW 16 17,127,175 (GRCm39) missense possibly damaging 0.92
R0548:Pi4ka UTSW 16 17,125,582 (GRCm39) missense possibly damaging 0.75
R0626:Pi4ka UTSW 16 17,111,765 (GRCm39) missense probably benign 0.00
R0918:Pi4ka UTSW 16 17,103,124 (GRCm39) missense possibly damaging 0.61
R1082:Pi4ka UTSW 16 17,207,216 (GRCm39) missense probably damaging 1.00
R1384:Pi4ka UTSW 16 17,115,401 (GRCm39) splice site probably benign
R1455:Pi4ka UTSW 16 17,181,818 (GRCm39) missense probably benign 0.02
R1479:Pi4ka UTSW 16 17,191,264 (GRCm39) missense probably benign 0.08
R1490:Pi4ka UTSW 16 17,204,132 (GRCm39) missense probably damaging 1.00
R1565:Pi4ka UTSW 16 17,099,764 (GRCm39) missense probably null
R1594:Pi4ka UTSW 16 17,191,283 (GRCm39) splice site probably benign
R1641:Pi4ka UTSW 16 17,194,894 (GRCm39) missense probably benign 0.00
R1694:Pi4ka UTSW 16 17,113,240 (GRCm39) missense probably damaging 0.99
R1828:Pi4ka UTSW 16 17,098,614 (GRCm39) missense probably benign 0.00
R1864:Pi4ka UTSW 16 17,185,389 (GRCm39) nonsense probably null
R2036:Pi4ka UTSW 16 17,120,976 (GRCm39) missense probably damaging 1.00
R2151:Pi4ka UTSW 16 17,185,371 (GRCm39) missense probably benign 0.44
R2844:Pi4ka UTSW 16 17,168,657 (GRCm39) missense probably damaging 0.97
R2876:Pi4ka UTSW 16 17,185,414 (GRCm39) missense possibly damaging 0.77
R3953:Pi4ka UTSW 16 17,103,145 (GRCm39) unclassified probably benign
R3972:Pi4ka UTSW 16 17,111,739 (GRCm39) missense probably damaging 1.00
R4357:Pi4ka UTSW 16 17,185,303 (GRCm39) missense probably benign 0.00
R4385:Pi4ka UTSW 16 17,204,129 (GRCm39) missense probably benign 0.13
R4427:Pi4ka UTSW 16 17,098,908 (GRCm39) missense probably damaging 1.00
R4436:Pi4ka UTSW 16 17,100,246 (GRCm39) missense probably damaging 1.00
R4677:Pi4ka UTSW 16 17,100,237 (GRCm39) missense probably damaging 1.00
R4683:Pi4ka UTSW 16 17,114,901 (GRCm39) missense possibly damaging 0.73
R4736:Pi4ka UTSW 16 17,195,039 (GRCm39) missense probably benign 0.12
R4804:Pi4ka UTSW 16 17,126,025 (GRCm39) missense possibly damaging 0.75
R4886:Pi4ka UTSW 16 17,176,225 (GRCm39) missense
R4893:Pi4ka UTSW 16 17,194,900 (GRCm39) missense probably benign 0.21
R4896:Pi4ka UTSW 16 17,195,033 (GRCm39) missense probably damaging 1.00
R5004:Pi4ka UTSW 16 17,195,033 (GRCm39) missense probably damaging 1.00
R5015:Pi4ka UTSW 16 17,120,946 (GRCm39) missense possibly damaging 0.56
R5104:Pi4ka UTSW 16 17,098,914 (GRCm39) missense probably damaging 1.00
R5160:Pi4ka UTSW 16 17,140,917 (GRCm39) missense probably benign 0.01
R5173:Pi4ka UTSW 16 17,168,770 (GRCm39) missense possibly damaging 0.95
R5204:Pi4ka UTSW 16 17,176,909 (GRCm39) missense possibly damaging 0.68
R5307:Pi4ka UTSW 16 17,140,894 (GRCm39) missense probably benign 0.00
R5327:Pi4ka UTSW 16 17,143,277 (GRCm39) missense probably damaging 1.00
R5506:Pi4ka UTSW 16 17,111,817 (GRCm39) missense probably damaging 0.96
R5580:Pi4ka UTSW 16 17,098,951 (GRCm39) missense probably damaging 1.00
R5768:Pi4ka UTSW 16 17,172,736 (GRCm39) missense probably benign 0.29
R5857:Pi4ka UTSW 16 17,176,848 (GRCm39) missense probably benign 0.00
R5951:Pi4ka UTSW 16 17,121,006 (GRCm39) missense probably damaging 1.00
R5953:Pi4ka UTSW 16 17,099,815 (GRCm39) missense
R6041:Pi4ka UTSW 16 17,178,436 (GRCm39) missense probably benign
R6223:Pi4ka UTSW 16 17,175,435 (GRCm39) nonsense probably null
R6416:Pi4ka UTSW 16 17,176,186 (GRCm39) missense probably benign 0.22
R6535:Pi4ka UTSW 16 17,118,900 (GRCm39) missense probably damaging 1.00
R6580:Pi4ka UTSW 16 17,168,694 (GRCm39) missense probably damaging 1.00
R6720:Pi4ka UTSW 16 17,143,916 (GRCm39) splice site probably null
R6723:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6725:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6752:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6753:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6755:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6767:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6768:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6782:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6782:Pi4ka UTSW 16 17,143,852 (GRCm39) missense probably damaging 1.00
R6788:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6849:Pi4ka UTSW 16 17,121,285 (GRCm39) missense possibly damaging 0.54
R6958:Pi4ka UTSW 16 17,143,091 (GRCm39) missense probably damaging 1.00
R7014:Pi4ka UTSW 16 17,114,931 (GRCm39) unclassified probably benign
R7055:Pi4ka UTSW 16 17,134,879 (GRCm39) utr 3 prime probably benign
R7317:Pi4ka UTSW 16 17,223,496 (GRCm39) critical splice donor site probably null
R7533:Pi4ka UTSW 16 17,115,525 (GRCm39) missense
R7552:Pi4ka UTSW 16 17,109,080 (GRCm39) missense
R7581:Pi4ka UTSW 16 17,118,924 (GRCm39) missense
R7622:Pi4ka UTSW 16 17,111,841 (GRCm39) missense
R7717:Pi4ka UTSW 16 17,194,787 (GRCm39) missense
R8048:Pi4ka UTSW 16 17,120,991 (GRCm39) missense
R8052:Pi4ka UTSW 16 17,174,030 (GRCm39) missense
R8079:Pi4ka UTSW 16 17,120,924 (GRCm39) missense
R8123:Pi4ka UTSW 16 17,098,956 (GRCm39) missense
R8211:Pi4ka UTSW 16 17,100,769 (GRCm39) missense
R8310:Pi4ka UTSW 16 17,171,912 (GRCm39) critical splice donor site probably null
R8322:Pi4ka UTSW 16 17,175,437 (GRCm39) missense
R8509:Pi4ka UTSW 16 17,172,008 (GRCm39) missense
R8735:Pi4ka UTSW 16 17,136,234 (GRCm39) missense
R8912:Pi4ka UTSW 16 17,207,230 (GRCm39) missense
R8917:Pi4ka UTSW 16 17,130,310 (GRCm39) missense
R8921:Pi4ka UTSW 16 17,125,604 (GRCm39) missense
R8941:Pi4ka UTSW 16 17,114,807 (GRCm39) unclassified probably benign
R9002:Pi4ka UTSW 16 17,117,317 (GRCm39) missense
R9203:Pi4ka UTSW 16 17,100,165 (GRCm39) missense
R9222:Pi4ka UTSW 16 17,176,225 (GRCm39) missense
R9230:Pi4ka UTSW 16 17,099,788 (GRCm39) missense
R9262:Pi4ka UTSW 16 17,120,859 (GRCm39) missense
R9338:Pi4ka UTSW 16 17,135,227 (GRCm39) missense
R9374:Pi4ka UTSW 16 17,125,574 (GRCm39) missense
R9436:Pi4ka UTSW 16 17,125,670 (GRCm39) missense
R9499:Pi4ka UTSW 16 17,125,574 (GRCm39) missense
R9501:Pi4ka UTSW 16 17,204,156 (GRCm39) missense
R9551:Pi4ka UTSW 16 17,125,574 (GRCm39) missense
R9705:Pi4ka UTSW 16 17,099,815 (GRCm39) missense
RF007:Pi4ka UTSW 16 17,115,097 (GRCm39) missense
U24488:Pi4ka UTSW 16 17,143,040 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TACTGAGCACTAGCACCCAG -3'
(R):5'- GGAGACCAGAGTTATTTATGTGAGG -3'

Sequencing Primer
(F):5'- CTGAAGTGAGTAAATTCCACATCGC -3'
(R):5'- ATCTCTGAGTTTGAGGCCAGCC -3'
Posted On 2017-03-01