Incidental Mutation 'IGL01710:Pi4k2a'
ID 104769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pi4k2a
Ensembl Gene ENSMUSG00000025178
Gene Name phosphatidylinositol 4-kinase type 2 alpha
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.899) question?
Stock # IGL01710
Quality Score
Status
Chromosome 19
Chromosomal Location 42078909-42110526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42093418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 253 (L253Q)
Ref Sequence ENSEMBL: ENSMUSP00000069284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066778]
AlphaFold Q2TBE6
Predicted Effect probably damaging
Transcript: ENSMUST00000066778
AA Change: L253Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: L253Q

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 62,004,645 (GRCm39) T48I probably damaging Het
Ccpg1 T C 9: 72,904,723 (GRCm39) probably benign Het
Chkb G A 15: 89,310,843 (GRCm39) Q379* probably null Het
Chst15 T A 7: 131,872,236 (GRCm39) D15V probably benign Het
Cntn4 G A 6: 106,527,392 (GRCm39) V425I possibly damaging Het
Cpa6 T A 1: 10,395,497 (GRCm39) N390I probably damaging Het
Efhd2 A G 4: 141,587,872 (GRCm39) F193S probably damaging Het
Ell3 T C 2: 121,271,993 (GRCm39) H128R probably damaging Het
Ercc5 T G 1: 44,203,235 (GRCm39) L291V probably damaging Het
Eva1c A G 16: 90,701,235 (GRCm39) Y302C probably damaging Het
Fmo3 A C 1: 162,810,612 (GRCm39) L26R probably damaging Het
Galntl6 T A 8: 58,989,002 (GRCm39) D17V probably damaging Het
Gm6483 C T 8: 19,741,629 (GRCm39) P55S probably damaging Het
Gstt2 A G 10: 75,669,579 (GRCm39) probably benign Het
Hmcn2 T A 2: 31,233,114 (GRCm39) L221Q probably damaging Het
Hoxa3 T C 6: 52,147,554 (GRCm39) probably benign Het
Kctd12b T C X: 152,472,479 (GRCm39) D70G probably damaging Het
Kdm7a T A 6: 39,152,320 (GRCm39) E125D probably benign Het
Klk1b21 T A 7: 43,755,919 (GRCm39) F249L probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Nomo1 T A 7: 45,687,980 (GRCm39) L82Q probably damaging Het
Or5p58 G T 7: 107,694,449 (GRCm39) F109L probably benign Het
Papolg A T 11: 23,814,026 (GRCm39) S718T probably damaging Het
Pex6 A G 17: 47,036,252 (GRCm39) probably benign Het
Prdx6b T A 2: 80,123,490 (GRCm39) F100I probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Ptgfrn T C 3: 100,980,404 (GRCm39) E312G probably damaging Het
Rasgrf1 A G 9: 89,873,745 (GRCm39) I685V probably benign Het
Setdb1 T C 3: 95,246,164 (GRCm39) E586G probably damaging Het
Sez6l2 C A 7: 126,567,388 (GRCm39) T841K probably damaging Het
Slc25a17 A T 15: 81,211,527 (GRCm39) L163* probably null Het
Slc35f3 A T 8: 127,115,900 (GRCm39) I276F probably benign Het
Tcerg1l T A 7: 137,996,789 (GRCm39) K149N possibly damaging Het
Tex28 T A X: 73,195,939 (GRCm39) K278* probably null Het
Tmprss9 A G 10: 80,733,793 (GRCm39) probably benign Het
Tnfaip8l1 A G 17: 56,478,782 (GRCm39) K24R probably benign Het
Trim36 T C 18: 46,321,455 (GRCm39) probably benign Het
Uba1 C T X: 20,537,604 (GRCm39) T274I possibly damaging Het
Ubr2 T C 17: 47,254,335 (GRCm39) T1439A probably benign Het
Ubr4 A G 4: 139,145,772 (GRCm39) D1523G possibly damaging Het
Uchl4 A T 9: 64,142,788 (GRCm39) T90S probably benign Het
Other mutations in Pi4k2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02959:Pi4k2a APN 19 42,101,510 (GRCm39) missense probably benign 0.42
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 2014-01-21