Incidental Mutation 'IGL02526:Pi4k2b'
ID297100
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 #IGL02526
Quality Score
Status
Chromosome5
Chromosomal Location52741574-52769340 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52767739 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 442 (F442L)
Ref Sequence ENSEMBL: ENSMUSP00000031082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031081] [ENSMUST00000031082]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031081
AA Change: F465L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
AA Change: F465L

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Pfam:PI3_PI4_kinase 117 417 3.9e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000031082
AA Change: F442L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186
AA Change: F442L

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Pfam:PI3_PI4_kinase 85 401 7.4e-61 PFAM
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
Acad10 A G 5: 121,646,860 V231A probably damaging Het
Aff4 T C 11: 53,406,682 probably benign Het
Ano2 G A 6: 125,872,751 probably null Het
Aspm A G 1: 139,489,719 E2818G probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Caprin1 T C 2: 103,775,603 probably benign Het
Clca2 T C 3: 145,088,018 H292R probably benign Het
Dnah11 G A 12: 118,179,618 T430M possibly damaging Het
Fgd6 A G 10: 94,100,511 N902S probably benign Het
Grm3 A G 5: 9,589,847 I66T probably damaging Het
H13 T A 2: 152,688,682 F158L probably damaging Het
Kcnb2 A G 1: 15,710,755 E617G probably damaging Het
Kcnh7 T C 2: 62,850,437 S269G possibly damaging Het
Krit1 T A 5: 3,822,103 I376N probably damaging Het
Lonrf2 T A 1: 38,800,710 M435L probably benign Het
Map2 A T 1: 66,380,717 D69V possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myh3 C T 11: 67,087,545 P453S probably benign Het
Olfr557 T A 7: 102,699,084 V282D possibly damaging Het
Pla2g12b T A 10: 59,416,453 C49S probably damaging Het
Polr2a C T 11: 69,739,467 R1258Q probably benign Het
Prmt8 A C 6: 127,711,823 S195A probably damaging Het
Pwp1 T A 10: 85,882,103 probably null Het
Rxfp1 C A 3: 79,670,846 probably null Het
Skor1 A T 9: 63,145,877 M270K probably damaging Het
Slc12a4 T C 8: 105,949,806 N495D possibly damaging Het
Slc26a3 T C 12: 31,457,096 V350A probably damaging Het
Slc44a4 T A 17: 34,928,487 V430D probably damaging Het
Slit2 C A 5: 48,304,223 C1537* probably null Het
Tas2r135 A T 6: 42,406,280 H251L probably damaging Het
Tbr1 T C 2: 61,811,698 F436L probably benign Het
Them6 A T 15: 74,721,655 T121S possibly damaging Het
Tmem145 G A 7: 25,308,232 M221I probably benign Het
Trrap T C 5: 144,824,550 V2300A probably benign Het
Usf3 C A 16: 44,220,311 A1718D possibly damaging Het
Usp10 C A 8: 119,948,775 S511Y probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt9a T C 11: 59,328,505 F119S probably damaging Het
Zc3h7b G A 15: 81,793,137 G880S probably benign Het
Other mutations in Pi4k2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Pi4k2b APN 5 52751448 missense probably damaging 1.00
IGL00850:Pi4k2b APN 5 52760950 nonsense probably null
IGL01580:Pi4k2b APN 5 52754661 missense possibly damaging 0.78
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 On2015-04-16