Incidental Mutation 'R4248:Pik3cb'
ID 320498
Institutional Source Beutler Lab
Gene Symbol Pik3cb
Ensembl Gene ENSMUSG00000032462
Gene Name phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
Synonyms 1110001J02Rik, p110beta
MMRRC Submission 041064-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R4248 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 98920455-99022264 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 98983229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035037] [ENSMUST00000124723] [ENSMUST00000136965]
AlphaFold Q8BTI9
PDB Structure CRYSTAL STRUCTURE OF P110BETA IN COMPLEX WITH ICSH2 OF P85BETA AND THE DRUG GDC-0941 [X-RAY DIFFRACTION]
Discovery and Optimization of Pyrimidone Indoline Amide PI3Kbeta Inhibitors for the Treatment of Phosphatase and TENsin homologue (PTEN)-Deficient Cancers [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000035037
SMART Domains Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462

DomainStartEndE-ValueType
PI3K_p85B 35 112 2.44e-50 SMART
PI3K_rbd 174 282 1.88e-42 SMART
low complexity region 305 311 N/A INTRINSIC
PI3K_C2 315 417 4.64e-33 SMART
PI3Ka 519 705 1.08e-92 SMART
PI3Kc 795 1061 8.75e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124723
SMART Domains Protein: ENSMUSP00000121466
Gene: ENSMUSG00000032462

DomainStartEndE-ValueType
Pfam:PI3K_p85B 35 68 3.6e-14 PFAM
Predicted Effect silent
Transcript: ENSMUST00000136965
SMART Domains Protein: ENSMUSP00000138346
Gene: ENSMUSG00000032462

DomainStartEndE-ValueType
PI3K_p85B 35 112 2.44e-50 SMART
PI3K_rbd 174 282 1.88e-42 SMART
low complexity region 305 311 N/A INTRINSIC
PI3K_C2 315 417 4.64e-33 SMART
Blast:PI3Ka 450 520 1e-37 BLAST
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit 30% fetal lethality, decreased size at birth and postnatally, abnormal glucose homeostasis, and dyslipidemia. Mice homozygous for a different knock-out allele die prior to E8.5 [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Alox12b G A 11: 69,054,431 (GRCm39) V250I probably benign Het
Armt1 T C 10: 4,389,687 (GRCm39) F115L probably benign Het
Cdh9 T C 15: 16,850,474 (GRCm39) F536L probably benign Het
Fbxo25 T C 8: 13,989,617 (GRCm39) S355P probably damaging Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Gapt C A 13: 110,490,289 (GRCm39) V125F probably damaging Het
Gucd1 A T 10: 75,345,662 (GRCm39) V131E probably damaging Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hivep2 A G 10: 14,007,299 (GRCm39) E1299G probably damaging Het
Hnf4g A G 3: 3,717,909 (GRCm39) D342G possibly damaging Het
Kmt2b C T 7: 30,273,489 (GRCm39) R2349H probably benign Het
Lama5 C T 2: 179,822,220 (GRCm39) R2896Q possibly damaging Het
Moxd2 A C 6: 40,855,933 (GRCm39) I552S probably damaging Het
Nkx1-2 TGGTGAGAGGGGGCCGCCTTGGCCCCG TG 7: 132,201,209 (GRCm39) probably null Het
Onecut3 A G 10: 80,349,963 (GRCm39) T486A possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pirb A G 7: 3,722,297 (GRCm39) F182S probably damaging Het
Rev1 C T 1: 38,146,729 (GRCm39) R34H possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Tep1 T C 14: 51,100,351 (GRCm39) H389R possibly damaging Het
Tnfrsf1b G A 4: 144,942,535 (GRCm39) A416V probably benign Het
Ust A T 10: 8,393,982 (GRCm39) L61Q possibly damaging Het
Vmn2r101 A T 17: 19,809,376 (GRCm39) K168N probably damaging Het
Other mutations in Pik3cb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Pik3cb APN 9 98,983,339 (GRCm39) missense probably damaging 0.96
IGL01354:Pik3cb APN 9 98,946,221 (GRCm39) missense possibly damaging 0.83
IGL02132:Pik3cb APN 9 98,953,430 (GRCm39) missense probably benign 0.01
IGL02268:Pik3cb APN 9 98,928,609 (GRCm39) missense probably benign 0.00
IGL02376:Pik3cb APN 9 98,934,405 (GRCm39) missense probably benign 0.00
IGL02378:Pik3cb APN 9 98,944,893 (GRCm39) missense probably benign 0.40
IGL02748:Pik3cb APN 9 98,945,021 (GRCm39) splice site probably benign
IGL03038:Pik3cb APN 9 98,947,650 (GRCm39) missense probably damaging 1.00
IGL03142:Pik3cb APN 9 98,947,615 (GRCm39) missense probably benign 0.10
H8786:Pik3cb UTSW 9 98,928,612 (GRCm39) missense possibly damaging 0.80
R0071:Pik3cb UTSW 9 98,926,918 (GRCm39) missense probably benign 0.02
R0071:Pik3cb UTSW 9 98,926,918 (GRCm39) missense probably benign 0.02
R0305:Pik3cb UTSW 9 98,946,129 (GRCm39) missense possibly damaging 0.86
R0464:Pik3cb UTSW 9 98,926,796 (GRCm39) critical splice donor site probably null
R0635:Pik3cb UTSW 9 98,946,271 (GRCm39) splice site probably benign
R1386:Pik3cb UTSW 9 98,946,080 (GRCm39) missense possibly damaging 0.90
R1530:Pik3cb UTSW 9 98,936,026 (GRCm39) missense probably damaging 0.96
R1802:Pik3cb UTSW 9 98,983,342 (GRCm39) nonsense probably null
R1815:Pik3cb UTSW 9 98,975,148 (GRCm39) missense possibly damaging 0.93
R2011:Pik3cb UTSW 9 98,987,632 (GRCm39) nonsense probably null
R2079:Pik3cb UTSW 9 98,942,257 (GRCm39) missense probably benign 0.27
R2153:Pik3cb UTSW 9 98,983,297 (GRCm39) nonsense probably null
R2237:Pik3cb UTSW 9 98,923,081 (GRCm39) missense probably damaging 1.00
R2238:Pik3cb UTSW 9 98,923,081 (GRCm39) missense probably damaging 1.00
R2513:Pik3cb UTSW 9 98,943,895 (GRCm39) missense probably damaging 1.00
R3982:Pik3cb UTSW 9 98,928,654 (GRCm39) missense probably benign 0.06
R4009:Pik3cb UTSW 9 98,922,982 (GRCm39) missense probably damaging 0.98
R4246:Pik3cb UTSW 9 98,983,229 (GRCm39) splice site probably null
R4249:Pik3cb UTSW 9 98,983,229 (GRCm39) splice site probably null
R4334:Pik3cb UTSW 9 98,943,904 (GRCm39) missense probably damaging 1.00
R4544:Pik3cb UTSW 9 98,921,812 (GRCm39) missense probably damaging 1.00
R4568:Pik3cb UTSW 9 98,972,355 (GRCm39) missense probably benign 0.00
R4571:Pik3cb UTSW 9 98,972,310 (GRCm39) missense possibly damaging 0.94
R4595:Pik3cb UTSW 9 98,937,459 (GRCm39) missense possibly damaging 0.95
R4599:Pik3cb UTSW 9 98,943,817 (GRCm39) missense probably benign 0.15
R4820:Pik3cb UTSW 9 98,955,679 (GRCm39) missense probably benign 0.00
R4887:Pik3cb UTSW 9 98,983,381 (GRCm39) missense probably damaging 0.99
R4967:Pik3cb UTSW 9 98,987,685 (GRCm39) missense probably benign 0.14
R5029:Pik3cb UTSW 9 98,936,113 (GRCm39) missense probably damaging 0.98
R5031:Pik3cb UTSW 9 98,953,461 (GRCm39) missense probably damaging 1.00
R5394:Pik3cb UTSW 9 98,970,716 (GRCm39) missense probably benign
R5769:Pik3cb UTSW 9 98,975,212 (GRCm39) nonsense probably null
R6128:Pik3cb UTSW 9 98,946,152 (GRCm39) missense possibly damaging 0.95
R6250:Pik3cb UTSW 9 98,976,651 (GRCm39) missense probably benign 0.01
R6354:Pik3cb UTSW 9 98,955,696 (GRCm39) missense probably benign 0.00
R6370:Pik3cb UTSW 9 98,922,987 (GRCm39) missense probably damaging 1.00
R6664:Pik3cb UTSW 9 98,976,591 (GRCm39) missense possibly damaging 0.56
R6665:Pik3cb UTSW 9 98,955,702 (GRCm39) missense probably benign 0.00
R6751:Pik3cb UTSW 9 98,976,574 (GRCm39) missense probably benign
R6781:Pik3cb UTSW 9 98,923,045 (GRCm39) missense possibly damaging 0.52
R6869:Pik3cb UTSW 9 98,942,312 (GRCm39) missense probably benign 0.08
R6883:Pik3cb UTSW 9 98,983,453 (GRCm39) missense probably benign 0.00
R7150:Pik3cb UTSW 9 98,975,143 (GRCm39) missense probably damaging 1.00
R7446:Pik3cb UTSW 9 98,928,711 (GRCm39) missense probably damaging 1.00
R7679:Pik3cb UTSW 9 98,970,660 (GRCm39) missense probably benign 0.05
R7831:Pik3cb UTSW 9 98,970,666 (GRCm39) missense probably benign
R8300:Pik3cb UTSW 9 98,928,711 (GRCm39) missense probably damaging 1.00
R8837:Pik3cb UTSW 9 98,936,117 (GRCm39) missense possibly damaging 0.65
R8911:Pik3cb UTSW 9 98,946,201 (GRCm39) missense probably benign 0.40
R9299:Pik3cb UTSW 9 98,943,844 (GRCm39) missense probably damaging 1.00
R9337:Pik3cb UTSW 9 98,943,844 (GRCm39) missense probably damaging 1.00
R9477:Pik3cb UTSW 9 98,922,973 (GRCm39) critical splice donor site probably null
R9641:Pik3cb UTSW 9 98,955,789 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACATGAAATGCAGGCCCTTG -3'
(R):5'- AACTACCCGATGTTTAACCTCC -3'

Sequencing Primer
(F):5'- AGGCCCTTGGGTGCAGAG -3'
(R):5'- CCTCATGGACATTGACTCGTATATG -3'
Posted On 2015-06-12