Incidental Mutation 'IGL03117:Pi4k2b'
ID419474
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 #IGL03117
Quality Score
Status
Chromosome5
Chromosomal Location52741574-52769340 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52748423 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 102 (E102G)
Ref Sequence ENSEMBL: ENSMUSP00000031081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031081] [ENSMUST00000031082] [ENSMUST00000131526]
Predicted Effect probably benign
Transcript: ENSMUST00000031081
AA Change: E102G

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
AA Change: E102G

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Pfam:PI3_PI4_kinase 117 417 3.9e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031082
SMART Domains Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d3 A G 14: 29,467,952 L109P probably damaging Het
Caprin2 A T 6: 148,862,466 S568T possibly damaging Het
Catip A G 1: 74,364,585 T154A probably null Het
Ccdc129 A G 6: 55,898,129 T355A probably benign Het
Ccdc187 A G 2: 26,287,968 S270P possibly damaging Het
Ccdc88a A G 11: 29,374,559 Y39C probably damaging Het
Chrdl2 A T 7: 100,027,580 H203L possibly damaging Het
Chrnb2 A G 3: 89,763,245 V62A probably damaging Het
Cklf T A 8: 104,257,423 S73T possibly damaging Het
Clk1 A G 1: 58,417,007 probably null Het
Ctdp1 T C 18: 80,449,501 D593G probably damaging Het
Ctsc A T 7: 88,309,780 I423F probably damaging Het
D130043K22Rik T A 13: 24,889,842 V968E probably damaging Het
Dennd4c A G 4: 86,777,903 S166G possibly damaging Het
Dnah2 G T 11: 69,436,291 probably benign Het
Dnajb11 G T 16: 22,869,138 R206L probably benign Het
Dsel A T 1: 111,859,178 probably benign Het
Ehd2 T C 7: 15,950,471 S468G possibly damaging Het
Ehmt2 T A 17: 34,906,811 V640E possibly damaging Het
Elmo2 T A 2: 165,298,653 E299D probably benign Het
Eps8l1 T C 7: 4,470,887 L231P probably damaging Het
Esd A G 14: 74,741,246 T83A probably damaging Het
Flt3 A G 5: 147,356,210 F529L probably benign Het
Hnrnpu G A 1: 178,330,774 probably benign Het
Hpx G T 7: 105,600,071 A7E possibly damaging Het
Ighv6-5 C T 12: 114,416,700 V85M possibly damaging Het
Itpr3 G A 17: 27,119,266 V2503I probably damaging Het
Matr3 G T 18: 35,572,657 G212C probably damaging Het
Mrpl35 A T 6: 71,816,279 Y129* probably null Het
Myh2 T C 11: 67,180,884 I509T possibly damaging Het
Nat8l G T 5: 34,000,944 A233S probably damaging Het
Nipbl A C 15: 8,332,452 L1447W probably damaging Het
Paf1 T A 7: 28,395,056 C31S possibly damaging Het
Parp4 A C 14: 56,602,856 T573P probably benign Het
Phf12 A T 11: 78,023,020 probably benign Het
Pou2f1 A G 1: 165,934,813 C7R probably benign Het
Prpsap2 T C 11: 61,740,989 R181G probably benign Het
Psd A G 19: 46,323,122 probably benign Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rab21 A T 10: 115,315,192 probably null Het
Relb T C 7: 19,612,657 D330G probably damaging Het
Rhoc A T 3: 104,792,920 T100S probably benign Het
Ryr1 G T 7: 29,102,964 H744N probably damaging Het
Sardh C T 2: 27,239,446 G280D probably damaging Het
Scyl2 A C 10: 89,657,867 N346K possibly damaging Het
Sec16b T C 1: 157,535,400 F267S probably damaging Het
Slc44a5 T A 3: 154,251,077 M322K probably benign Het
St8sia4 T A 1: 95,591,783 N327Y probably benign Het
Tbl1xr1 T A 3: 22,203,159 Y395* probably null Het
Unc13c A T 9: 73,534,025 S1897R probably benign Het
Vangl2 A G 1: 172,012,848 S58P probably damaging Het
Vmn1r17 A G 6: 57,360,516 I288T probably benign Het
Vmn1r236 A G 17: 21,287,246 I209V probably benign Het
Zfp809 A G 9: 22,238,654 Y149C probably damaging 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
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
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 On2016-08-02