Incidental Mutation 'R5307:Pi4ka'
ID 404674
Institutional Source Beutler Lab
Gene Symbol Pi4ka
Ensembl Gene ENSMUSG00000041720
Gene Name phosphatidylinositol 4-kinase alpha
Synonyms Pik4ca
MMRRC Submission 042890-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5307 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 17098215-17224178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17140894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 859 (F859L)
Ref Sequence ENSEMBL: ENSMUSP00000036162 (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: F859L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: F859L

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 noncoding transcript
Transcript: ENSMUST00000132300
Predicted Effect
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000154364
AA Change: F859L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: F859L

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 noncoding transcript
Transcript: ENSMUST00000231961
Predicted Effect probably benign
Transcript: ENSMUST00000232232
AA Change: F859L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232404
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C G 3: 124,199,999 (GRCm39) G531A probably damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ap3d1 T C 10: 80,559,383 (GRCm39) T264A probably benign Het
Arhgef17 C G 7: 100,578,635 (GRCm39) G771A probably benign Het
Atg2b T A 12: 105,624,588 (GRCm39) D637V probably benign Het
Atp10b A G 11: 43,103,302 (GRCm39) E562G probably damaging Het
Atp1a1 A G 3: 101,497,280 (GRCm39) V342A probably damaging Het
Atp2a2 A G 5: 122,599,810 (GRCm39) I527T probably benign Het
Atr T A 9: 95,760,597 (GRCm39) N1022K probably benign Het
Bach2 T A 4: 32,562,683 (GRCm39) D383E probably benign Het
Casq1 A T 1: 172,046,983 (GRCm39) L92Q probably damaging Het
Chd1 T A 17: 15,952,832 (GRCm39) Y371N probably damaging Het
Chd9 G A 8: 91,723,777 (GRCm39) A617T probably damaging Het
Cntrob T A 11: 69,205,576 (GRCm39) R419S possibly damaging Het
Corin C A 5: 72,514,321 (GRCm39) G318C probably damaging Het
Cpa3 A G 3: 20,281,327 (GRCm39) probably null Het
Cplane1 G A 15: 8,290,174 (GRCm39) probably null Het
Crybg1 T C 10: 43,879,710 (GRCm39) S493G probably benign Het
Ddc A G 11: 11,826,321 (GRCm39) F80S probably damaging Het
Dhrs2 A G 14: 55,473,601 (GRCm39) S87G possibly damaging Het
Dnah12 A G 14: 26,414,641 (GRCm39) E14G possibly damaging Het
Dtd1 A G 2: 144,588,942 (GRCm39) E200G possibly damaging Het
Dync2h1 T C 9: 7,155,099 (GRCm39) E895G probably damaging Het
Ehhadh A C 16: 21,581,442 (GRCm39) S517A probably benign Het
Ephb2 C A 4: 136,421,098 (GRCm39) Q417H possibly damaging Het
Ephb4 A G 5: 137,361,574 (GRCm39) T526A probably damaging Het
Fam222b G A 11: 78,044,594 (GRCm39) V52I probably damaging Het
Galm G A 17: 80,452,416 (GRCm39) W118* probably null Het
Galm G T 17: 80,452,417 (GRCm39) W118C probably damaging Het
Gcfc2 A G 6: 81,921,367 (GRCm39) N458D probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gykl1 A C 18: 52,827,723 (GRCm39) R310S possibly damaging Het
Gzmn A C 14: 56,405,403 (GRCm39) V27G probably damaging Het
H2-T23 T A 17: 36,343,108 (GRCm39) M90L probably benign Het
Hnrnpu T C 1: 178,164,877 (GRCm39) E87G unknown Het
Hps3 G A 3: 20,066,865 (GRCm39) S567L possibly damaging Het
Igfn1 A T 1: 135,892,676 (GRCm39) V2148E probably damaging Het
Ighv1-75 T C 12: 115,797,572 (GRCm39) R117G probably damaging Het
Itgae C T 11: 73,036,464 (GRCm39) A1134V probably benign Het
Kmt2b C T 7: 30,281,098 (GRCm39) A1294T possibly damaging Het
Leng8 C T 7: 4,148,472 (GRCm39) T748I probably damaging Het
Lrig3 G C 10: 125,842,559 (GRCm39) D495H probably damaging Het
Mctp1 G A 13: 76,860,198 (GRCm39) probably null Het
Mfsd3 T A 15: 76,586,371 (GRCm39) L168* probably null Het
Nherf1 T A 11: 115,054,587 (GRCm39) I79N probably damaging Het
Nlrp4d C A 7: 10,096,709 (GRCm39) G921* probably null Het
Nsun4 G A 4: 115,891,335 (GRCm39) T348I probably damaging Het
Nucb1 T C 7: 45,147,842 (GRCm39) T246A probably damaging Het
Nynrin A C 14: 56,101,263 (GRCm39) S311R probably damaging Het
Or4k37 T A 2: 111,158,741 (GRCm39) probably null Het
Or5ar1 T G 2: 85,671,358 (GRCm39) Y259S probably damaging Het
Ovch2 C A 7: 107,391,341 (GRCm39) R303L probably benign Het
Pcsk9 A G 4: 106,304,371 (GRCm39) S490P probably damaging Het
Pkd1l3 A G 8: 110,367,424 (GRCm39) D1207G probably damaging Het
Pnpla7 G A 2: 24,911,964 (GRCm39) R710Q possibly damaging Het
Prex2 T G 1: 11,270,256 (GRCm39) S1314A probably damaging Het
Rnf216 A G 5: 143,078,757 (GRCm39) L64P probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc6a20b T G 9: 123,432,899 (GRCm39) S374R possibly damaging Het
Slc8a1 G T 17: 81,956,653 (GRCm39) N128K probably damaging Het
Slfn5 A T 11: 82,847,211 (GRCm39) D32V probably damaging Het
Snrnp35 T C 5: 124,628,553 (GRCm39) I122T possibly damaging Het
Snx24 C T 18: 53,473,283 (GRCm39) Q76* probably null Het
Sspo T A 6: 48,431,784 (GRCm39) H692Q probably damaging Het
Stxbp3 T C 3: 108,701,114 (GRCm39) D585G probably damaging Het
Svep1 T C 4: 58,072,677 (GRCm39) N2211D possibly damaging Het
Tnfrsf18 G A 4: 156,112,881 (GRCm39) probably null Het
Tnik T G 3: 28,596,121 (GRCm39) D171E probably damaging Het
Ttc23l T A 15: 10,533,745 (GRCm39) H266L probably damaging Het
Ttn G T 2: 76,725,114 (GRCm39) S2037* probably null Het
Tuba3a G A 6: 125,258,273 (GRCm39) T239I probably damaging Het
Usp25 T A 16: 76,890,594 (GRCm39) D767E probably benign Het
Whrn G T 4: 63,350,080 (GRCm39) H546N probably benign Het
Xirp2 C T 2: 67,341,506 (GRCm39) T1249I probably damaging Het
Zbtb1 T A 12: 76,433,014 (GRCm39) D333E probably damaging Het
Zfp689 T G 7: 127,047,987 (GRCm39) E15A possibly damaging Het
Zhx3 A G 2: 160,621,788 (GRCm39) M793T probably benign 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
R5062:Pi4ka UTSW 16 17,127,261 (GRCm39) missense probably benign 0.02
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
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'- AGGTGGATTTTAAGTGTCAGAAGAC -3'
(R):5'- AGTGTGTGCGCCTATAAACAG -3'

Sequencing Primer
(F):5'- CCCAGGGATTAAACTTAGGCTGTC -3'
(R):5'- CAGCAGAGATGGTATCCTGTAAGTC -3'
Posted On 2016-07-22