Incidental Mutation 'IGL00559:Pi4k2b'
ID13002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pi4k2b
Ensembl Gene ENSMUSG00000029186
Gene Namephosphatidylinositol 4-kinase type 2 beta
Synonyms2610042N09Rik, 4933409G22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.266) question?
Stock #IGL00559
Quality Score
Status
Chromosome5
Chromosomal Location52741574-52769340 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52751448 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 205 (F205L)
Ref Sequence ENSEMBL: ENSMUSP00000031081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031081] [ENSMUST00000031082] [ENSMUST00000131526]
Predicted Effect probably damaging
Transcript: ENSMUST00000031081
AA Change: F205L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
AA Change: F205L

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: F182L

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186
AA Change: F182L

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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cers4 G A 8: 4,521,216 D262N probably benign Het
Cyp2d26 G A 15: 82,791,043 A370V probably benign Het
Dnah7c T C 1: 46,807,289 M4000T possibly damaging Het
Enkd1 C T 8: 105,704,342 probably benign Het
H60b A G 10: 22,285,793 H60R probably benign Het
Hmgb4 T C 4: 128,260,289 N162S probably benign Het
Htt T C 5: 34,849,104 probably benign Het
Kbtbd6 A G 14: 79,453,248 D461G probably damaging Het
Nell2 A G 15: 95,527,285 L62P possibly damaging Het
Polr1b G T 2: 129,113,731 V521F probably damaging Het
Prn G A 2: 131,953,415 V152I probably benign Het
Ryr1 T C 7: 29,012,242 probably benign Het
Sema3c G T 5: 17,694,860 G450V probably damaging Het
Sema3d G A 5: 12,563,222 R422K probably benign Het
Snw1 T C 12: 87,468,731 D16G probably damaging Het
Tas2r121 T C 6: 132,700,521 I163V probably benign Het
Other mutations in Pi4k2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Pi4k2b APN 5 52760950 nonsense probably null
IGL01580:Pi4k2b APN 5 52754661 missense possibly damaging 0.78
IGL02526:Pi4k2b APN 5 52767739 missense probably damaging 1.00
IGL02667:Pi4k2b APN 5 52750605 splice site probably benign
IGL02946:Pi4k2b APN 5 52753207 missense probably damaging 1.00
IGL03117:Pi4k2b APN 5 52748423 missense probably benign 0.44
PIT4651001:Pi4k2b UTSW 5 52748470 missense possibly damaging 0.95
R0070:Pi4k2b UTSW 5 52756918 missense probably damaging 1.00
R0422:Pi4k2b UTSW 5 52767754 makesense probably null
R1816:Pi4k2b UTSW 5 52750746 missense probably damaging 1.00
R2048:Pi4k2b UTSW 5 52748431 missense probably benign 0.30
R2058:Pi4k2b UTSW 5 52750680 missense probably benign 0.02
R4909:Pi4k2b UTSW 5 52754629 unclassified probably benign
R5335:Pi4k2b UTSW 5 52741756 missense possibly damaging 0.90
R5661:Pi4k2b UTSW 5 52743564 splice site probably null
R6002:Pi4k2b UTSW 5 52756905 missense probably benign 0.02
R7259:Pi4k2b UTSW 5 52753245 missense probably damaging 1.00
R7329:Pi4k2b UTSW 5 52756869 missense probably benign
Z1088:Pi4k2b UTSW 5 52760931 missense possibly damaging 0.46
Posted On2012-12-06