Incidental Mutation 'R5661:Pi4k2b'
ID 444080
Institutional Source Beutler Lab
Gene Symbol Pi4k2b
Ensembl Gene ENSMUSG00000029186
Gene Name phosphatidylinositol 4-kinase type 2 beta
Synonyms 2610042N09Rik, 4933409G22Rik
MMRRC Submission 043304-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R5661 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 52898916-52926682 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 52900906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031081] [ENSMUST00000031082] [ENSMUST00000131526]
AlphaFold Q8CBQ5
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: 83,497,754 (GRCm39) I166T probably damaging Het
Actn1 T C 12: 80,231,618 (GRCm39) E273G probably benign Het
Arhgap15 G A 2: 44,212,739 (GRCm39) R403H possibly damaging Het
Arhgef26 T C 3: 62,285,075 (GRCm39) probably benign Het
Avl9 A T 6: 56,702,087 (GRCm39) R81* probably null Het
Brd3 G A 2: 27,351,584 (GRCm39) T223I possibly damaging Het
Cacna2d4 T C 6: 119,320,492 (GRCm39) M890T probably benign Het
Carm1 A G 9: 21,498,295 (GRCm39) D433G probably benign Het
Ccdc40 A G 11: 119,128,753 (GRCm39) K427E probably benign Het
Ccdc80 T C 16: 44,947,808 (GRCm39) Y929H probably damaging Het
Ccr9 A C 9: 123,609,164 (GRCm39) Y282S probably benign Het
Det1 C T 7: 78,492,958 (GRCm39) E349K probably damaging Het
Enpep T A 3: 129,070,406 (GRCm39) N834Y probably damaging Het
Epha7 A T 4: 28,946,217 (GRCm39) probably null Het
Fap A T 2: 62,367,307 (GRCm39) probably benign Het
Foxn4 A G 5: 114,411,053 (GRCm39) C23R probably benign Het
Gad1-ps T C 10: 99,280,901 (GRCm39) noncoding transcript Het
Gli2 C A 1: 118,781,032 (GRCm39) E238* probably null Het
Gm20939 C A 17: 95,183,207 (GRCm39) H148N probably damaging Het
Gnl1 T C 17: 36,293,447 (GRCm39) Y211H probably benign Het
Gpat3 A T 5: 101,033,808 (GRCm39) K221* probably null Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hnrnph1 A T 11: 50,275,507 (GRCm39) Q415L probably benign Het
Kansl3 T C 1: 36,388,038 (GRCm39) E383G possibly damaging Het
Kdm5b T C 1: 134,526,811 (GRCm39) V311A probably benign Het
Lipk T A 19: 34,009,727 (GRCm39) M215K probably benign Het
Madd A G 2: 90,984,778 (GRCm39) probably null Het
Meltf A G 16: 31,700,744 (GRCm39) E88G possibly damaging Het
Mis18bp1 A T 12: 65,195,626 (GRCm39) S713T probably benign Het
Mocos T A 18: 24,799,052 (GRCm39) probably null Het
Msto1 T A 3: 88,820,192 (GRCm39) D88V possibly damaging Het
Myo5a A G 9: 75,074,488 (GRCm39) Y799C probably benign Het
Nectin4 T A 1: 171,212,738 (GRCm39) L357H probably damaging Het
Or4p22 G A 2: 88,317,441 (GRCm39) V122M probably damaging Het
Or6c2 A T 10: 129,362,618 (GRCm39) H174L probably benign Het
Pax2 A G 19: 44,779,161 (GRCm39) N179S probably damaging Het
Pcdhac2 C A 18: 37,278,499 (GRCm39) T493K probably damaging Het
Pgk2 G T 17: 40,518,287 (GRCm39) C380* probably null Het
Plcb3 A G 19: 6,940,588 (GRCm39) V416A probably damaging Het
Pom121l2 G A 13: 22,168,425 (GRCm39) G899R possibly damaging Het
Ppp4r1 T C 17: 66,110,963 (GRCm39) probably null Het
Prkdc G A 16: 15,628,634 (GRCm39) E3460K possibly damaging Het
Psmb3 A G 11: 97,597,659 (GRCm39) E75G possibly damaging Het
Retnlb C T 16: 48,638,429 (GRCm39) T50I probably benign Het
Sec16a A G 2: 26,329,649 (GRCm39) S789P probably benign Het
Sec24d C T 3: 123,136,734 (GRCm39) T489I probably damaging Het
Sec24d T C 3: 123,136,791 (GRCm39) M508T possibly damaging Het
Slc5a8 C T 10: 88,755,290 (GRCm39) L466F possibly damaging Het
Terf1 T A 1: 15,889,888 (GRCm39) V221E probably damaging Het
Trak1 A G 9: 121,272,703 (GRCm39) N187S possibly damaging Het
Trappc11 T A 8: 47,965,642 (GRCm39) D528V probably damaging Het
Tut4 A G 4: 108,370,384 (GRCm39) D761G probably benign Het
Vmn1r170 A G 7: 23,306,231 (GRCm39) N211S possibly damaging Het
Zfpm2 G A 15: 40,959,467 (GRCm39) W50* probably null 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
IGL02946:Pi4k2b APN 5 52,910,549 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACGGTAATAATGGTGGCTCC -3'
(R):5'- AAGAACATAAGGCTCGCGGTTG -3'

Sequencing Primer
(F):5'- AATGGTGGCTCCTATTCCAAG -3'
(R):5'- GGCTCGCGGTTGTATAAATAAAATAG -3'
Posted On 2016-11-09