Incidental Mutation 'R5661:Pi4k2b'
ID444080
Institutional Source Beutler Lab
Gene Symbol Pi4k2b
Ensembl Gene ENSMUSG00000029186
Gene Namephosphatidylinositol 4-kinase type 2 beta
Synonyms2610042N09Rik, 4933409G22Rik
MMRRC Submission 043304-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #R5661 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location52741574-52769340 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to A at 52743564 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031081] [ENSMUST00000031082] [ENSMUST00000131526]
Predicted Effect probably benign
Transcript: ENSMUST00000031081
SMART Domains Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Pfam:PI3_PI4_kinase 117 417 3.9e-74 PFAM
Predicted Effect probably null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (57/59)
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
Actg2 A G 6: 83,520,772 I166T probably damaging Het
Actn1 T C 12: 80,184,844 E273G probably benign Het
Arhgap15 G A 2: 44,322,727 R403H possibly damaging Het
Arhgef26 T C 3: 62,377,654 probably benign Het
Avl9 A T 6: 56,725,102 R81* probably null Het
Brd3 G A 2: 27,461,572 T223I possibly damaging Het
Cacna2d4 T C 6: 119,343,531 M890T probably benign Het
Carm1 A G 9: 21,586,999 D433G probably benign Het
Ccdc40 A G 11: 119,237,927 K427E probably benign Het
Ccdc80 T C 16: 45,127,445 Y929H probably damaging Het
Ccr9 A C 9: 123,780,099 Y282S probably benign Het
Det1 C T 7: 78,843,210 E349K probably damaging Het
Enpep T A 3: 129,276,757 N834Y probably damaging Het
Epha7 A T 4: 28,946,217 probably null Het
Fap A T 2: 62,536,963 probably benign Het
Foxn4 A G 5: 114,272,992 C23R probably benign Het
Gad1-ps T C 10: 99,445,039 noncoding transcript Het
Gli2 C A 1: 118,853,302 E238* probably null Het
Gm20939 C A 17: 94,875,779 H148N probably damaging Het
Gnl1 T C 17: 35,982,555 Y211H probably benign Het
Gpat3 A T 5: 100,885,942 K221* probably null Het
Hjurp G C 1: 88,277,215 probably benign Het
Hnrnph1 A T 11: 50,384,680 Q415L probably benign Het
Kansl3 T C 1: 36,348,957 E383G possibly damaging Het
Kdm5b T C 1: 134,599,073 V311A probably benign Het
Lipk T A 19: 34,032,327 M215K probably benign Het
Madd A G 2: 91,154,433 probably null Het
Meltf A G 16: 31,881,926 E88G possibly damaging Het
Mis18bp1 A T 12: 65,148,852 S713T probably benign Het
Mocos T A 18: 24,665,995 probably null Het
Msto1 T A 3: 88,912,885 D88V possibly damaging Het
Myo5a A G 9: 75,167,206 Y799C probably benign Het
Nectin4 T A 1: 171,385,170 L357H probably damaging Het
Olfr1184 G A 2: 88,487,097 V122M probably damaging Het
Olfr791 A T 10: 129,526,749 H174L probably benign Het
Pax2 A G 19: 44,790,722 N179S probably damaging Het
Pcdhac2 C A 18: 37,145,446 T493K probably damaging Het
Pgk2 G T 17: 40,207,396 C380* probably null Het
Plcb3 A G 19: 6,963,220 V416A probably damaging Het
Pom121l2 G A 13: 21,984,255 G899R possibly damaging Het
Ppp4r1 T C 17: 65,803,968 probably null Het
Prkdc G A 16: 15,810,770 E3460K possibly damaging Het
Psmb3 A G 11: 97,706,833 E75G possibly damaging Het
Retnlb C T 16: 48,818,066 T50I probably benign Het
Sec16a A G 2: 26,439,637 S789P probably benign Het
Sec24d T C 3: 123,343,142 M508T possibly damaging Het
Sec24d C T 3: 123,343,085 T489I probably damaging Het
Slc5a8 C T 10: 88,919,428 L466F possibly damaging Het
Terf1 T A 1: 15,819,664 V221E probably damaging Het
Trak1 A G 9: 121,443,637 N187S possibly damaging Het
Trappc11 T A 8: 47,512,607 D528V probably damaging Het
Vmn1r170 A G 7: 23,606,806 N211S possibly damaging Het
Zcchc11 A G 4: 108,513,187 D761G probably benign Het
Zfpm2 G A 15: 41,096,071 W50* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- ACGGTAATAATGGTGGCTCC -3'
(R):5'- AAGAACATAAGGCTCGCGGTTG -3'

Sequencing Primer
(F):5'- AATGGTGGCTCCTATTCCAAG -3'
(R):5'- GGCTCGCGGTTGTATAAATAAAATAG -3'
Posted On2016-11-09