Incidental Mutation 'R5951:Pi4ka'
ID 501661
Institutional Source Beutler Lab
Gene Symbol Pi4ka
Ensembl Gene ENSMUSG00000041720
Gene Name phosphatidylinositol 4-kinase alpha
Synonyms Pik4ca
MMRRC Submission 044141-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5951 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17098215-17224178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17121006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 53 (F53L)
Ref Sequence ENSEMBL: ENSMUSP00000121728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000142876] [ENSMUST00000154364] [ENSMUST00000232232]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036161
AA Change: F1243L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: F1243L

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 damaging
Transcript: ENSMUST00000142876
AA Change: F53L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121728
Gene: ENSMUSG00000041720
AA Change: F53L

DomainStartEndE-ValueType
Blast:PI3Kc 1 78 7e-46 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000154364
AA Change: F1243L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: F1243L

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
SMART Domains Protein: ENSMUSP00000123156
Gene: ENSMUSG00000041720
AA Change: F110L

DomainStartEndE-ValueType
PI3Kc 57 207 1.3e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000231683
AA Change: F63L
Predicted Effect unknown
Transcript: ENSMUST00000232232
AA Change: F1243L
Meta Mutation Damage Score 0.2201 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (78/78)
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
4930568D16Rik T A 2: 35,244,811 (GRCm39) E180D probably damaging Het
Add3 A G 19: 53,232,720 (GRCm39) probably null Het
Adgrv1 A T 13: 81,590,620 (GRCm39) I4396N probably damaging Het
Apc C T 18: 34,450,199 (GRCm39) S2331L possibly damaging Het
Apoh G T 11: 108,286,729 (GRCm39) C51F probably damaging Het
Arid4b T C 13: 14,317,648 (GRCm39) V177A possibly damaging Het
Atp13a1 T A 8: 70,249,935 (GRCm39) I343N probably damaging Het
Bcar1 T C 8: 112,440,032 (GRCm39) D654G probably benign Het
Brox T C 1: 183,064,072 (GRCm39) K245R probably damaging Het
Ccdc146 A T 5: 21,524,577 (GRCm39) S258R possibly damaging Het
Ccdc169 A C 3: 55,047,562 (GRCm39) K18Q probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Crot C A 5: 9,019,120 (GRCm39) E478* probably null Het
Dgkq A T 5: 108,802,236 (GRCm39) M443K probably damaging Het
Dhx32 A T 7: 133,339,057 (GRCm39) L326Q probably damaging Het
Dtwd1 A G 2: 126,000,342 (GRCm39) I93V probably benign Het
Ehmt2 C T 17: 35,118,357 (GRCm39) T44I probably benign Het
Enc1 T C 13: 97,381,765 (GRCm39) S92P probably benign Het
Epha5 T C 5: 84,479,051 (GRCm39) probably benign Het
Eya4 T A 10: 23,031,892 (GRCm39) S244C probably damaging Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Fscn3 A T 6: 28,436,173 (GRCm39) I490F possibly damaging Het
Galntl6 A G 8: 58,415,436 (GRCm39) V239A probably benign Het
Glg1 T C 8: 111,892,323 (GRCm39) I841V possibly damaging Het
Gm15455 T C 1: 33,876,893 (GRCm39) noncoding transcript Het
Gpd1l C T 9: 114,743,473 (GRCm39) M142I probably benign Het
Helb A G 10: 119,927,653 (GRCm39) V819A possibly damaging Het
Hnrnpul2 T G 19: 8,802,255 (GRCm39) F374C probably damaging Het
Hoxc10 G A 15: 102,875,753 (GRCm39) S154N possibly damaging Het
Ice2 A T 9: 69,319,651 (GRCm39) T367S possibly damaging Het
Iqca1 A T 1: 90,067,819 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Klhl14 T A 18: 21,784,677 (GRCm39) H250L probably damaging Het
Kmt2c A T 5: 25,535,801 (GRCm39) D1447E probably benign Het
Larp1 G T 11: 57,940,765 (GRCm39) M630I probably benign Het
Lrp2 A G 2: 69,326,667 (GRCm39) probably null Het
Map4k3 G T 17: 80,911,427 (GRCm39) Q673K probably benign Het
Mettl16 A G 11: 74,686,823 (GRCm39) N201D possibly damaging Het
Mrpl15 C A 1: 4,855,956 (GRCm39) probably benign Het
Mthfd1l T A 10: 3,998,222 (GRCm39) V655D probably damaging Het
Odf1 T C 15: 38,226,531 (GRCm39) Y144H probably damaging Het
Or2f1b G T 6: 42,739,493 (GRCm39) C169F probably damaging Het
Or5t5 G T 2: 86,616,571 (GRCm39) V166L probably benign Het
Padi1 T C 4: 140,542,140 (GRCm39) Y594C probably damaging Het
Palm3 T A 8: 84,756,049 (GRCm39) D520E probably benign Het
Paox G A 7: 139,707,567 (GRCm39) C130Y probably damaging Het
Parpbp T A 10: 87,975,769 (GRCm39) S115C probably damaging Het
Pcnx3 A G 19: 5,721,708 (GRCm39) V1438A possibly damaging Het
Pdlim2 T A 14: 70,405,229 (GRCm39) D212V probably benign Het
Pik3c2a A T 7: 115,967,419 (GRCm39) D839E probably damaging Het
Pou2f1 T C 1: 165,710,625 (GRCm39) probably benign Het
Ppl A T 16: 4,906,492 (GRCm39) Y1268N probably benign Het
Prelid3a C T 18: 67,598,011 (GRCm39) S6L probably benign Het
Ptk2 T G 15: 73,175,682 (GRCm39) D285A possibly damaging Het
Rasd2 T G 8: 75,948,811 (GRCm39) Y246D probably damaging Het
Rhbdl2 A G 4: 123,708,120 (GRCm39) T110A probably benign Het
Rhobtb1 T A 10: 69,106,085 (GRCm39) F217I probably damaging Het
Serhl T C 15: 82,987,237 (GRCm39) probably benign Het
Sh3tc2 A G 18: 62,123,078 (GRCm39) E613G probably damaging Het
Slc26a3 A G 12: 31,502,714 (GRCm39) probably benign Het
Steap4 T C 5: 8,025,769 (GRCm39) I110T probably benign Het
Syde1 C A 10: 78,425,150 (GRCm39) R287L possibly damaging Het
Tmem184c C T 8: 78,325,291 (GRCm39) probably null Het
Trmt44 C A 5: 35,730,032 (GRCm39) probably benign Het
Ttbk2 G T 2: 120,603,764 (GRCm39) S256R probably benign Het
Ttll6 A T 11: 96,036,336 (GRCm39) I322F probably damaging Het
Ubap2 A T 4: 41,205,753 (GRCm39) probably null Het
Wsb2 A T 5: 117,515,600 (GRCm39) T402S 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
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
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
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'- GTAACAGCACACTCAGGTGC -3'
(R):5'- GCATCAGAAGCAAGTCAGCC -3'

Sequencing Primer
(F):5'- TGCCCCAGAGAAATAGGGTCC -3'
(R):5'- GTCAGCCAAGACCTTGTCC -3'
Posted On 2017-12-01