Incidental Mutation 'IGL02959:Pi4k2a'
ID 365262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pi4k2a
Ensembl Gene ENSMUSG00000025178
Gene Name phosphatidylinositol 4-kinase type 2 alpha
Accession Numbers
Essential gene? Probably essential (E-score: 0.899) question?
Stock # IGL02959
Quality Score
Chromosome 19
Chromosomal Location 42078909-42110526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42101510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 317 (K317N)
Ref Sequence ENSEMBL: ENSMUSP00000069284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066778]
AlphaFold Q2TBE6
Predicted Effect probably benign
Transcript: ENSMUST00000066778
AA Change: K317N

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: K317N

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,544,023 (GRCm39) A506D probably benign Het
Agap1 G T 1: 89,770,913 (GRCm39) V635L possibly damaging Het
Akr1c12 T C 13: 4,329,331 (GRCm39) K9E probably benign Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Atm T C 9: 53,382,718 (GRCm39) H1957R probably damaging Het
Bcr T C 10: 74,996,222 (GRCm39) F922S probably benign Het
Cfap44 T A 16: 44,291,230 (GRCm39) probably benign Het
Chil5 A G 3: 105,926,906 (GRCm39) V243A probably damaging Het
Csmd1 A G 8: 15,960,465 (GRCm39) C3317R probably damaging Het
Dsc1 T C 18: 20,241,942 (GRCm39) K133R probably damaging Het
Ecm1 T A 3: 95,644,989 (GRCm39) Q136L probably damaging Het
Fscn3 C A 6: 28,435,997 (GRCm39) A431E possibly damaging Het
Gas7 C T 11: 67,565,061 (GRCm39) probably benign Het
Gbx2 A G 1: 89,856,517 (GRCm39) V291A probably damaging Het
Hipk3 G A 2: 104,301,604 (GRCm39) T196M probably damaging Het
Il20ra T A 10: 19,634,789 (GRCm39) N343K probably benign Het
Il24 C T 1: 130,813,470 (GRCm39) W42* probably null Het
Kif13b A T 14: 65,005,166 (GRCm39) I1153F probably damaging Het
Krt1c A T 15: 101,719,763 (GRCm39) S636T unknown Het
Or11g24 A T 14: 50,662,389 (GRCm39) M138L possibly damaging Het
Or13a25 C T 7: 140,247,463 (GRCm39) P81S probably damaging Het
Or14c40 T C 7: 86,313,737 (GRCm39) F289S probably damaging Het
Or4k52 T A 2: 111,610,955 (GRCm39) C97S probably damaging Het
Or6d15 A T 6: 116,559,505 (GRCm39) M134K probably damaging Het
Osmr T C 15: 6,845,378 (GRCm39) D796G possibly damaging Het
Peli2 A T 14: 48,477,754 (GRCm39) T99S probably benign Het
Pik3r1 T G 13: 101,894,037 (GRCm39) D44A probably benign Het
Pkhd1 G T 1: 20,678,640 (GRCm39) S96* probably null Het
Plekha5 A G 6: 140,489,904 (GRCm39) E9G probably damaging Het
Plekha8 T C 6: 54,592,254 (GRCm39) F71S probably damaging Het
Polq G T 16: 36,906,928 (GRCm39) L2296F probably damaging Het
Rbm5 G A 9: 107,631,384 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,295,366 (GRCm39) K217E probably damaging Het
Scrib A G 15: 75,937,056 (GRCm39) L350P probably damaging Het
Slc4a10 T A 2: 62,098,487 (GRCm39) S540R probably damaging Het
Smc3 G T 19: 53,611,988 (GRCm39) V354L probably benign Het
Smurf1 T A 5: 144,836,199 (GRCm39) I105F probably damaging Het
Stx7 G T 10: 24,031,247 (GRCm39) R17L probably benign Het
Tbca C T 13: 94,979,203 (GRCm39) R74C probably benign Het
Tmem92 T C 11: 94,669,504 (GRCm39) Q153R possibly damaging Het
Trim41 C A 11: 48,698,307 (GRCm39) G553V probably damaging Het
Trim75 A T 8: 65,435,417 (GRCm39) N344K possibly damaging Het
Tsr1 A G 11: 74,791,075 (GRCm39) D218G probably benign Het
Ubr2 A C 17: 47,286,877 (GRCm39) V474G probably damaging Het
Unc45a T G 7: 79,982,721 (GRCm39) probably benign Het
Zfp609 C T 9: 65,610,675 (GRCm39) A763T probably benign Het
Other mutations in Pi4k2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Pi4k2a APN 19 42,093,418 (GRCm39) missense probably damaging 1.00
R1570:Pi4k2a UTSW 19 42,089,083 (GRCm39) missense probably benign 0.33
R1992:Pi4k2a UTSW 19 42,104,377 (GRCm39) missense probably damaging 1.00
R2113:Pi4k2a UTSW 19 42,103,510 (GRCm39) missense possibly damaging 0.78
R2358:Pi4k2a UTSW 19 42,079,131 (GRCm39) missense probably damaging 0.99
R2410:Pi4k2a UTSW 19 42,093,316 (GRCm39) missense possibly damaging 0.55
R3547:Pi4k2a UTSW 19 42,078,987 (GRCm39) missense probably benign 0.10
R3708:Pi4k2a UTSW 19 42,079,370 (GRCm39) nonsense probably null
R3712:Pi4k2a UTSW 19 42,079,131 (GRCm39) missense probably damaging 0.99
R3954:Pi4k2a UTSW 19 42,104,338 (GRCm39) missense probably damaging 0.98
R4654:Pi4k2a UTSW 19 42,101,544 (GRCm39) critical splice donor site probably null
R5077:Pi4k2a UTSW 19 42,108,275 (GRCm39) splice site probably null
R5386:Pi4k2a UTSW 19 42,078,954 (GRCm39) missense probably damaging 0.99
R5846:Pi4k2a UTSW 19 42,103,477 (GRCm39) missense probably benign 0.01
R5867:Pi4k2a UTSW 19 42,093,924 (GRCm39) critical splice donor site probably null
R5878:Pi4k2a UTSW 19 42,089,080 (GRCm39) missense probably benign 0.02
R6502:Pi4k2a UTSW 19 42,079,371 (GRCm39) missense probably benign 0.04
R7042:Pi4k2a UTSW 19 42,093,337 (GRCm39) missense probably benign 0.18
R7269:Pi4k2a UTSW 19 42,079,125 (GRCm39) missense probably damaging 1.00
R7819:Pi4k2a UTSW 19 42,079,013 (GRCm39) missense probably benign
R8249:Pi4k2a UTSW 19 42,103,501 (GRCm39) missense probably benign 0.00
R8560:Pi4k2a UTSW 19 42,089,151 (GRCm39) nonsense probably null
R9038:Pi4k2a UTSW 19 42,089,235 (GRCm39) missense probably damaging 1.00
Z1177:Pi4k2a UTSW 19 42,093,364 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18