Incidental Mutation 'IGL02946:Pi4k2b'
ID 364747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pi4k2b
Ensembl Gene ENSMUSG00000029186
Gene Name phosphatidylinositol 4-kinase type 2 beta
Synonyms 2610042N09Rik, 4933409G22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # IGL02946
Quality Score
Status
Chromosome 5
Chromosomal Location 52898916-52926682 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52910549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 278 (F278L)
Ref Sequence ENSEMBL: ENSMUSP00000031081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031081] [ENSMUST00000031082] [ENSMUST00000131526]
AlphaFold Q8CBQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000031081
AA Change: F278L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
AA Change: F278L

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Pfam:PI3_PI4_kinase 117 417 3.9e-74 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000031082
AA Change: F255L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186
AA Change: F255L

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Pfam:PI3_PI4_kinase 85 401 7.4e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131526
SMART Domains Protein: ENSMUSP00000142802
Gene: ENSMUSG00000029186

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145825
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,919,041 (GRCm39) probably benign Het
Actr3b T C 5: 26,053,481 (GRCm39) I270T possibly damaging Het
Adgrf2 T C 17: 43,021,384 (GRCm39) Y480C probably damaging Het
Arhgap27 T C 11: 103,229,174 (GRCm39) T514A probably damaging Het
BC031181 C T 18: 75,141,736 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ccm2 G A 11: 6,546,195 (GRCm39) R335H probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Crabp1 T C 9: 54,672,232 (GRCm39) F16S possibly damaging Het
Crmp1 C T 5: 37,441,424 (GRCm39) A502V probably damaging Het
Ehhadh A T 16: 21,581,672 (GRCm39) V440D probably damaging Het
Galnt3 T A 2: 65,925,562 (GRCm39) I392L probably damaging Het
Gm12689 T A 4: 99,184,490 (GRCm39) N114K unknown Het
Hspa2 A G 12: 76,451,947 (GRCm39) T214A probably damaging Het
Itga7 T C 10: 128,769,952 (GRCm39) I32T probably benign Het
Itgal A G 7: 126,913,540 (GRCm39) S682G probably damaging Het
Kctd1 C T 18: 15,107,036 (GRCm39) probably null Het
Lrp1b T A 2: 41,202,571 (GRCm39) D439V probably damaging Het
Mdn1 A G 4: 32,734,366 (GRCm39) K3258E probably damaging Het
Mgat4c T C 10: 102,225,114 (GRCm39) S443P probably benign Het
Mylk G A 16: 34,742,158 (GRCm39) G890E probably benign Het
Mylk2 T A 2: 152,761,130 (GRCm39) L446* probably null Het
Niban1 A T 1: 151,525,176 (GRCm39) I194F probably damaging Het
Or2t26 T G 11: 49,039,719 (GRCm39) F212V probably damaging Het
Pitpnm3 A G 11: 71,983,378 (GRCm39) S84P probably benign Het
Plxna2 T C 1: 194,431,617 (GRCm39) probably benign Het
Prr5l C A 2: 101,602,529 (GRCm39) probably null Het
Ptprs T C 17: 56,731,032 (GRCm39) T719A probably benign Het
Rasa3 T C 8: 13,648,280 (GRCm39) H128R probably benign Het
Rhox13 A G X: 37,218,652 (GRCm39) K205E probably damaging Het
Rif1 C A 2: 52,000,137 (GRCm39) S1197* probably null Het
Sgta A G 10: 80,885,612 (GRCm39) probably benign Het
Slc25a5 T A X: 36,061,506 (GRCm39) M239K probably damaging Het
Stil T A 4: 114,887,110 (GRCm39) H734Q probably benign Het
Stk32b T C 5: 37,688,883 (GRCm39) probably benign Het
Ubr4 T G 4: 139,152,606 (GRCm39) F1999C probably damaging Het
Wfdc2 A C 2: 164,406,009 (GRCm39) T86P probably benign Het
Zfp407 T C 18: 84,578,834 (GRCm39) S760G probably damaging Het
Zfp668 A T 7: 127,465,690 (GRCm39) L498Q possibly damaging Het
Other mutations in Pi4k2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Pi4k2b APN 5 52,908,790 (GRCm39) missense probably damaging 1.00
IGL00850:Pi4k2b APN 5 52,918,292 (GRCm39) nonsense probably null
IGL01580:Pi4k2b APN 5 52,912,003 (GRCm39) missense possibly damaging 0.78
IGL02526:Pi4k2b APN 5 52,925,081 (GRCm39) missense probably damaging 1.00
IGL02667:Pi4k2b APN 5 52,907,947 (GRCm39) splice site probably benign
IGL03117:Pi4k2b APN 5 52,905,765 (GRCm39) missense probably benign 0.44
PIT4651001:Pi4k2b UTSW 5 52,905,812 (GRCm39) missense possibly damaging 0.95
R0070:Pi4k2b UTSW 5 52,914,260 (GRCm39) missense probably damaging 1.00
R0422:Pi4k2b UTSW 5 52,925,096 (GRCm39) makesense probably null
R1816:Pi4k2b UTSW 5 52,908,088 (GRCm39) missense probably damaging 1.00
R2048:Pi4k2b UTSW 5 52,905,773 (GRCm39) missense probably benign 0.30
R2058:Pi4k2b UTSW 5 52,908,022 (GRCm39) missense probably benign 0.02
R4909:Pi4k2b UTSW 5 52,911,971 (GRCm39) unclassified probably benign
R5335:Pi4k2b UTSW 5 52,899,098 (GRCm39) missense possibly damaging 0.90
R5661:Pi4k2b UTSW 5 52,900,906 (GRCm39) splice site probably null
R6002:Pi4k2b UTSW 5 52,914,247 (GRCm39) missense probably benign 0.02
R7259:Pi4k2b UTSW 5 52,910,587 (GRCm39) missense probably damaging 1.00
R7329:Pi4k2b UTSW 5 52,914,211 (GRCm39) missense probably benign
R8725:Pi4k2b UTSW 5 52,908,031 (GRCm39) missense probably benign 0.01
R8727:Pi4k2b UTSW 5 52,908,031 (GRCm39) missense probably benign 0.01
R9282:Pi4k2b UTSW 5 52,900,879 (GRCm39) missense probably benign 0.21
R9562:Pi4k2b UTSW 5 52,908,799 (GRCm39) missense probably damaging 0.97
R9758:Pi4k2b UTSW 5 52,918,331 (GRCm39) missense probably benign 0.22
Z1088:Pi4k2b UTSW 5 52,918,273 (GRCm39) missense possibly damaging 0.46
Posted On 2015-12-18