Incidental Mutation 'R1479:Pi4ka'
ID 164237
Institutional Source Beutler Lab
Gene Symbol Pi4ka
Ensembl Gene ENSMUSG00000041720
Gene Name phosphatidylinositol 4-kinase alpha
Synonyms Pik4ca
MMRRC Submission 039532-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1479 (G1)
Quality Score 197
Status Validated
Chromosome 16
Chromosomal Location 17098215-17224178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17191264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 211 (G211D)
Ref Sequence ENSEMBL: ENSMUSP00000156049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000154364] [ENSMUST00000232232]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036161
AA Change: G211D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: G211D

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: ENSMUST00000128938
Predicted Effect probably benign
Transcript: ENSMUST00000154364
AA Change: G211D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: G211D

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: ENSMUST00000231419
Predicted Effect probably benign
Transcript: ENSMUST00000232232
AA Change: G211D

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.0993 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (81/84)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik T A 9: 50,652,601 (GRCm39) T58S possibly damaging Het
Alox12e A G 11: 70,211,608 (GRCm39) V252A probably benign Het
Anks6 T C 4: 47,044,874 (GRCm39) D344G probably damaging Het
Atg14 A T 14: 47,784,696 (GRCm39) probably null Het
Bcr G T 10: 74,896,957 (GRCm39) E34* probably null Het
Birc6 C T 17: 74,941,848 (GRCm39) T2728M probably damaging Het
Bmp2k T A 5: 97,201,059 (GRCm39) N326K probably benign Het
Brme1 C A 8: 84,889,026 (GRCm39) T123K possibly damaging Het
Ccdc188 A C 16: 18,037,154 (GRCm39) T242P possibly damaging Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdin1 T A 2: 115,469,494 (GRCm39) N74K probably benign Het
Chsy3 A T 18: 59,541,985 (GRCm39) E374D probably benign Het
Clca4b A T 3: 144,621,229 (GRCm39) V615E probably damaging Het
Clcnka C A 4: 141,116,758 (GRCm39) A498S possibly damaging Het
Csmd3 A G 15: 47,721,282 (GRCm39) C1450R probably damaging Het
Cul7 C A 17: 46,962,673 (GRCm39) D101E probably damaging Het
Cyp27b1 G A 10: 126,887,580 (GRCm39) probably null Het
Cyp2d22 A G 15: 82,256,137 (GRCm39) S404P probably damaging Het
Dclk3 G A 9: 111,297,614 (GRCm39) S386N probably benign Het
Dnah10 G A 5: 124,854,953 (GRCm39) D1953N possibly damaging Het
Dst T A 1: 34,303,596 (GRCm39) probably null Het
Egfem1 A G 3: 29,711,314 (GRCm39) N241D probably damaging Het
Entpd7 T C 19: 43,710,279 (GRCm39) F312S probably damaging Het
Esp34 T A 17: 38,865,219 (GRCm39) probably benign Het
Foxd2 T A 4: 114,765,115 (GRCm39) T302S unknown Het
Fzd6 A T 15: 38,894,394 (GRCm39) N187Y probably damaging Het
Gbp9 C T 5: 105,241,930 (GRCm39) probably benign Het
Gna14 T C 19: 16,511,133 (GRCm39) S61P possibly damaging Het
Grap A T 11: 61,551,124 (GRCm39) Y52F probably benign Het
H2-T3 T C 17: 36,500,320 (GRCm39) Y125C probably damaging Het
Hax1 C A 3: 89,903,164 (GRCm39) E212D probably damaging Het
Hecw1 A C 13: 14,491,077 (GRCm39) S638R probably benign Het
Hira A T 16: 18,715,219 (GRCm39) K39M probably damaging Het
Hoxa2 T A 6: 52,140,320 (GRCm39) D222V probably damaging Het
Hycc2 T A 1: 58,591,427 (GRCm39) R91* probably null Het
Jph2 C T 2: 163,181,191 (GRCm39) V658M possibly damaging Het
Kansl1 A T 11: 104,233,242 (GRCm39) S762T probably damaging Het
Kat6b T A 14: 21,669,024 (GRCm39) C267S probably benign Het
Klk6 A G 7: 43,481,058 (GRCm39) N250S probably benign Het
Lbp T C 2: 158,161,634 (GRCm39) L232S probably damaging Het
Lcn9 A T 2: 25,713,715 (GRCm39) probably benign Het
Lcp2 A G 11: 34,025,068 (GRCm39) H213R probably benign Het
Lrrc9 A T 12: 72,507,599 (GRCm39) K367* probably null Het
Lyst A G 13: 13,809,067 (GRCm39) I246V probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mst1r T C 9: 107,790,544 (GRCm39) probably benign Het
Myo18a A G 11: 77,733,020 (GRCm39) E909G probably benign Het
Nipbl A T 15: 8,379,773 (GRCm39) D1006E probably benign Het
Or4k5 C A 14: 50,386,245 (GRCm39) V29F probably benign Het
Or5d37 A G 2: 87,923,630 (GRCm39) F217L probably benign Het
Or8d1b A T 9: 38,887,058 (GRCm39) I29F probably benign Het
Otog A G 7: 45,945,402 (GRCm39) I2220V possibly damaging Het
Pcx T A 19: 4,652,052 (GRCm39) I99N probably damaging Het
Pp2d1 T C 17: 53,814,883 (GRCm39) S614G probably benign Het
Prdx6 G A 1: 161,071,833 (GRCm39) A111V probably damaging Het
Prorp T A 12: 55,426,172 (GRCm39) D138E probably damaging Het
Prss51 G A 14: 64,333,619 (GRCm39) probably null Het
Psmd6 C T 14: 14,116,819 (GRCm38) probably benign Het
Pten T A 19: 32,797,250 (GRCm39) L345Q probably damaging Het
Qrich2 T G 11: 116,332,311 (GRCm39) H2295P probably benign Het
Rgs11 T C 17: 26,427,257 (GRCm39) probably null Het
Rgs6 A G 12: 83,163,018 (GRCm39) E408G probably damaging Het
Septin4 G T 11: 87,458,244 (GRCm39) R206L probably damaging Het
Slc38a7 T C 8: 96,575,122 (GRCm39) T53A probably benign Het
Spata31g1 A C 4: 42,972,543 (GRCm39) K625N possibly damaging Het
Sptbn1 A G 11: 30,063,909 (GRCm39) C1957R probably damaging Het
Sumf1 T C 6: 108,153,019 (GRCm39) Y123C probably damaging Het
Tnrc6b T A 15: 80,771,233 (GRCm39) probably null Het
Ttc21a C A 9: 119,786,013 (GRCm39) D670E probably benign Het
Ttn A G 2: 76,574,855 (GRCm39) V25346A probably damaging Het
Ubr4 A G 4: 139,153,151 (GRCm39) T2070A possibly damaging Het
Vmn2r57 C A 7: 41,077,254 (GRCm39) W304L possibly damaging Het
Vps13a T C 19: 16,727,478 (GRCm39) probably benign Het
Zfp647 A G 15: 76,795,403 (GRCm39) V419A possibly 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
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
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'- ATAACAGAGGGTCAGTCCCAGCC -3'
(R):5'- GTCTCCTCAGAAACCTCACATGCAC -3'

Sequencing Primer
(F):5'- CTCCTCAACATCATAAGAAATCACTG -3'
(R):5'- acacctgtaatcccaacactc -3'
Posted On 2014-03-28