Incidental Mutation 'R5386:Pi4k2a'
ID 425299
Institutional Source Beutler Lab
Gene Symbol Pi4k2a
Ensembl Gene ENSMUSG00000025178
Gene Name phosphatidylinositol 4-kinase type 2 alpha
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R5386 (G1)
Quality Score 200
Status Not validated
Chromosome 19
Chromosomal Location 42090435-42122218 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 42090515 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 5 (S5N)
Ref Sequence ENSEMBL: ENSMUSP00000069284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051772] [ENSMUST00000066778]
AlphaFold Q2TBE6
Predicted Effect probably benign
Transcript: ENSMUST00000051772
SMART Domains Protein: ENSMUSP00000062887
Gene: ENSMUSG00000049670

MORN 14 35 1.64e-5 SMART
MORN 37 58 4.15e-2 SMART
MORN 60 81 1.86e-4 SMART
MORN 83 104 1.84e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066778
AA Change: S5N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: S5N

low complexity region 31 53 N/A INTRINSIC
low complexity region 68 98 N/A INTRINSIC
Pfam:PI3_PI4_kinase 133 431 1.7e-67 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 134 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G A 15: 8,194,413 (GRCm38) G887R probably damaging Het
4931406P16Rik A G 7: 34,242,388 (GRCm38) F120L probably damaging Het
Abcc12 T G 8: 86,517,489 (GRCm38) K1012Q possibly damaging Het
Afmid G A 11: 117,828,142 (GRCm38) G33R probably benign Het
Agbl3 G T 6: 34,799,196 (GRCm38) W207C probably damaging Het
Ajuba T C 14: 54,570,398 (GRCm38) Y459C probably damaging Het
Ak2 T C 4: 129,008,172 (GRCm38) S213P probably benign Het
Alk T A 17: 71,875,012 (GRCm38) N1339Y probably damaging Het
Angpt1 T C 15: 42,438,365 (GRCm38) S416G probably damaging Het
Ank2 C T 3: 126,981,933 (GRCm38) V854M probably benign Het
Ankrd61 G T 5: 143,891,664 (GRCm38) N122K possibly damaging Het
Armc9 T A 1: 86,198,289 (GRCm38) L34Q probably null Het
Aspg T A 12: 112,123,032 (GRCm38) V418E probably benign Het
Baz1b C T 5: 135,238,059 (GRCm38) R1241C probably damaging Het
Bclaf1 T C 10: 20,325,592 (GRCm38) V201A possibly damaging Het
C1ql3 A T 2: 13,004,358 (GRCm38) D225E probably damaging Het
Capn9 A G 8: 124,605,540 (GRCm38) T417A possibly damaging Het
Card14 C T 11: 119,317,289 (GRCm38) R62C probably damaging Het
Cc2d2a A G 5: 43,730,041 (GRCm38) N1271S probably benign Het
Ccpg1 G A 9: 73,013,044 (GRCm38) S647N probably benign Het
Cdv3 T C 9: 103,355,230 (GRCm38) K133R possibly damaging Het
Cep128 A C 12: 90,999,571 (GRCm38) S1087R probably benign Het
Cep70 T A 9: 99,281,075 (GRCm38) L325Q probably damaging Het
Chit1 T G 1: 134,149,454 (GRCm38) F332V probably damaging Het
Chodl C A 16: 78,946,697 (GRCm38) T219K probably damaging Het
Cntn4 T C 6: 106,181,804 (GRCm38) L10P possibly damaging Het
Copg1 G T 6: 87,890,207 (GRCm38) M87I possibly damaging Het
Cyp3a59 A G 5: 146,085,768 (GRCm38) Y28C probably benign Het
Dchs1 A C 7: 105,758,029 (GRCm38) V2119G probably damaging Het
Dedd T C 1: 171,338,383 (GRCm38) L23P probably damaging Het
Dmxl2 A G 9: 54,378,757 (GRCm38) S2715P probably benign Het
Dnah9 T C 11: 66,029,356 (GRCm38) N2237S probably damaging Het
Drosha A G 15: 12,842,121 (GRCm38) I337V probably benign Het
Duox2 A G 2: 122,295,136 (GRCm38) V330A probably benign Het
Dusp11 T C 6: 85,947,605 (GRCm38) *322W probably null Het
Dusp8 T A 7: 142,089,993 (GRCm38) Q61L possibly damaging Het
Ears2 G C 7: 122,044,377 (GRCm38) T426S probably benign Het
Elmo1 T C 13: 20,600,210 (GRCm38) Y646H probably benign Het
Eps15 T A 4: 109,321,225 (GRCm38) I220K possibly damaging Het
Faap100 T A 11: 120,377,632 (GRCm38) E105V possibly damaging Het
Fam171a2 C A 11: 102,437,867 (GRCm38) V689L possibly damaging Het
Fam213b T A 4: 154,899,005 (GRCm38) M1L probably benign Het
Fam91a1 G A 15: 58,448,394 (GRCm38) S645N probably benign Het
Fancg G A 4: 43,007,076 (GRCm38) Q234* probably null Het
Gid4 T A 11: 60,432,442 (GRCm38) probably null Het
Gm14085 C A 2: 122,522,778 (GRCm38) L480I probably benign Het
Gm7361 A C 5: 26,258,905 (GRCm38) T53P probably benign Het
Golgb1 T A 16: 36,912,315 (GRCm38) C641* probably null Het
Gon4l T A 3: 88,858,496 (GRCm38) M409K probably benign Het
Gpatch8 A T 11: 102,508,227 (GRCm38) probably null Het
Gpr156 T A 16: 37,948,309 (GRCm38) V64E possibly damaging Het
Grid2 T A 6: 63,931,105 (GRCm38) I243K probably damaging Het
Gucy2g G A 19: 55,215,116 (GRCm38) A750V probably damaging Het
Hdac5 T C 11: 102,202,141 (GRCm38) E590G possibly damaging Het
Herc3 T A 6: 58,874,278 (GRCm38) M504K probably damaging Het
Hif1a A G 12: 73,944,093 (GRCm38) E713G probably benign Het
Hmx3 A G 7: 131,544,304 (GRCm38) D247G probably damaging Het
Hoxd11 G T 2: 74,682,819 (GRCm38) E143* probably null Het
Ifitm3 T C 7: 141,010,641 (GRCm38) N2S probably benign Het
Il17f T C 1: 20,777,957 (GRCm38) Q99R probably benign Het
Itga6 T A 2: 71,841,150 (GRCm38) S341R probably damaging Het
Itgam A G 7: 128,107,980 (GRCm38) N661S probably benign Het
Jag1 A T 2: 137,095,544 (GRCm38) H303Q possibly damaging Het
Kcnh8 T A 17: 52,725,995 (GRCm38) N103K probably benign Het
Kdm6b T C 11: 69,400,810 (GRCm38) probably benign Het
Keg1 A C 19: 12,714,538 (GRCm38) N63T probably damaging Het
Klf12 T A 14: 99,900,159 (GRCm38) H317L probably damaging Het
Lrp1 A T 10: 127,592,114 (GRCm38) V530E probably damaging Het
Mrgpra6 A G 7: 47,188,881 (GRCm38) C190R probably damaging Het
Myo1a G T 10: 127,705,897 (GRCm38) E102* probably null Het
Napa A T 7: 16,116,472 (GRCm38) E265D probably benign Het
Ncam1 A C 9: 49,564,874 (GRCm38) V305G probably damaging Het
Nek8 T C 11: 78,170,437 (GRCm38) probably null Het
Olfr1115 C T 2: 87,252,483 (GRCm38) P182L probably benign Het
Olfr1242 G T 2: 89,494,137 (GRCm38) Y58* probably null Het
Olfr1275 T C 2: 111,231,194 (GRCm38) T200A probably benign Het
Olfr191 T A 16: 59,085,890 (GRCm38) M198L probably benign Het
Olfr243 T C 7: 103,717,355 (GRCm38) F254L probably benign Het
Olfr251 A T 9: 38,377,985 (GRCm38) I29F probably benign Het
Olfr739 T A 14: 50,425,389 (GRCm38) V290E possibly damaging Het
Olfr971 A G 9: 39,839,830 (GRCm38) Y132C possibly damaging Het
Olfr987 T C 2: 85,331,635 (GRCm38) T88A probably benign Het
Pabpc4 A G 4: 123,294,997 (GRCm38) Q417R probably benign Het
Panx3 A T 9: 37,669,024 (GRCm38) M11K probably damaging Het
Pcbp1 C T 6: 86,525,489 (GRCm38) E143K probably damaging Het
Pdcd7 G A 9: 65,358,692 (GRCm38) W477* probably null Het
Plag1 T A 4: 3,904,075 (GRCm38) Q372L probably benign Het
Plce1 C A 19: 38,760,091 (GRCm38) N1755K probably damaging Het
Pld4 G T 12: 112,763,988 (GRCm38) E102* probably null Het
Pnlip A G 19: 58,679,607 (GRCm38) N345S probably benign Het
Ppm1e A T 11: 87,358,551 (GRCm38) L118Q possibly damaging Het
Prkra T G 2: 76,639,278 (GRCm38) T146P probably damaging Het
Prpf8 A G 11: 75,495,799 (GRCm38) D1038G probably damaging Het
Prss51 T A 14: 64,097,094 (GRCm38) V108E probably damaging Het
Ptch1 A G 13: 63,545,043 (GRCm38) Y181H probably damaging Het
Reln A G 5: 22,039,529 (GRCm38) V817A probably benign Het
Rictor C A 15: 6,789,504 (GRCm38) Q1403K probably benign Het
Rims1 T A 1: 22,412,245 (GRCm38) I882F probably damaging Het
Rnf19a A G 15: 36,242,039 (GRCm38) V618A probably benign Het
Ryr1 A T 7: 29,117,416 (GRCm38) I65N probably damaging Het
S1pr2 T C 9: 20,967,594 (GRCm38) T313A probably benign Het
Serpine2 A T 1: 79,821,287 (GRCm38) Y83* probably null Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,153,384 (GRCm38) probably benign Het
Sgip1 T C 4: 102,915,059 (GRCm38) V215A probably benign Het
Sgsm3 T C 15: 81,007,999 (GRCm38) V256A probably benign Het
Shroom4 T A X: 6,585,469 (GRCm38) C894* probably null Het
Slc14a2 T A 18: 78,185,840 (GRCm38) D306V possibly damaging Het
Slc4a10 A T 2: 62,290,058 (GRCm38) E843V probably damaging Het
Smyd4 T A 11: 75,390,156 (GRCm38) C152S probably damaging Het
Snx10 T C 6: 51,575,972 (GRCm38) Y32H probably damaging Het
Sorl1 T C 9: 42,057,284 (GRCm38) T558A possibly damaging Het
Spata31d1b G A 13: 59,719,052 (GRCm38) C1338Y possibly damaging Het
Sppl2c T A 11: 104,187,301 (GRCm38) I309K possibly damaging Het
Stard9 A G 2: 120,700,630 (GRCm38) E2456G probably damaging Het
Stx1b A T 7: 127,815,403 (GRCm38) D16E probably benign Het
Tecpr2 T C 12: 110,915,453 (GRCm38) V152A probably damaging Het
Tedc1 T C 12: 113,156,682 (GRCm38) V47A probably benign Het
Tep1 A T 14: 50,868,317 (GRCm38) L82Q probably damaging Het
Tgm4 A G 9: 123,056,494 (GRCm38) Y367C probably damaging Het
Tle1 C T 4: 72,141,844 (GRCm38) V258M probably damaging Het
Tm9sf1 C T 14: 55,642,844 (GRCm38) G32D possibly damaging Het
Tmco2 A G 4: 121,105,984 (GRCm38) L106P probably damaging Het
Tmem131 A T 1: 36,872,558 (GRCm38) C103S possibly damaging Het
Tmprss7 T A 16: 45,669,528 (GRCm38) I444F possibly damaging Het
Trank1 T C 9: 111,362,402 (GRCm38) V493A probably benign Het
Trim80 A T 11: 115,448,017 (GRCm38) T558S probably benign Het
Trmt6 C A 2: 132,808,783 (GRCm38) A302S probably benign Het
Ttc17 A T 2: 94,303,640 (GRCm38) W1067R probably damaging Het
Tulp4 T A 17: 6,236,293 (GRCm38) V1532D probably damaging Het
Ubqlnl T G 7: 104,149,217 (GRCm38) I358L probably benign Het
Ulk3 T A 9: 57,590,740 (GRCm38) I108N possibly damaging Het
Vps13b A T 15: 35,640,528 (GRCm38) probably null Het
Vwa3a A G 7: 120,790,142 (GRCm38) K68E possibly damaging Het
Zfp746 G T 6: 48,064,176 (GRCm38) H538N possibly damaging Het
Other mutations in Pi4k2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Pi4k2a APN 19 42,104,979 (GRCm38) missense probably damaging 1.00
IGL02959:Pi4k2a APN 19 42,113,071 (GRCm38) missense probably benign 0.42
R1570:Pi4k2a UTSW 19 42,100,644 (GRCm38) missense probably benign 0.33
R1992:Pi4k2a UTSW 19 42,115,938 (GRCm38) missense probably damaging 1.00
R2113:Pi4k2a UTSW 19 42,115,071 (GRCm38) missense possibly damaging 0.78
R2358:Pi4k2a UTSW 19 42,090,692 (GRCm38) missense probably damaging 0.99
R2410:Pi4k2a UTSW 19 42,104,877 (GRCm38) missense possibly damaging 0.55
R3547:Pi4k2a UTSW 19 42,090,548 (GRCm38) missense probably benign 0.10
R3708:Pi4k2a UTSW 19 42,090,931 (GRCm38) nonsense probably null
R3712:Pi4k2a UTSW 19 42,090,692 (GRCm38) missense probably damaging 0.99
R3954:Pi4k2a UTSW 19 42,115,899 (GRCm38) missense probably damaging 0.98
R4654:Pi4k2a UTSW 19 42,113,105 (GRCm38) critical splice donor site probably null
R5077:Pi4k2a UTSW 19 42,119,836 (GRCm38) splice site probably null
R5846:Pi4k2a UTSW 19 42,115,038 (GRCm38) missense probably benign 0.01
R5867:Pi4k2a UTSW 19 42,105,485 (GRCm38) critical splice donor site probably null
R5878:Pi4k2a UTSW 19 42,100,641 (GRCm38) missense probably benign 0.02
R6502:Pi4k2a UTSW 19 42,090,932 (GRCm38) missense probably benign 0.04
R7042:Pi4k2a UTSW 19 42,104,898 (GRCm38) missense probably benign 0.18
R7269:Pi4k2a UTSW 19 42,090,686 (GRCm38) missense probably damaging 1.00
R7819:Pi4k2a UTSW 19 42,090,574 (GRCm38) missense probably benign
R8249:Pi4k2a UTSW 19 42,115,062 (GRCm38) missense probably benign 0.00
R8560:Pi4k2a UTSW 19 42,100,712 (GRCm38) nonsense probably null
R9038:Pi4k2a UTSW 19 42,100,796 (GRCm38) missense probably damaging 1.00
Z1177:Pi4k2a UTSW 19 42,104,925 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04