Incidental Mutation 'R7150:Pik3cb'
ID 554071
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 045252-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7150 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 98920455-99022264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98975143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 246 (G246W)
Ref Sequence ENSEMBL: ENSMUSP00000035037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035037] [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 damaging
Transcript: ENSMUST00000035037
AA Change: G246W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462
AA Change: G246W

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 damaging
Transcript: ENSMUST00000136965
AA Change: G246W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138346
Gene: ENSMUSG00000032462
AA Change: G246W

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik T C 8: 125,589,653 (GRCm39) D20G possibly damaging Het
5430401F13Rik T C 6: 131,529,630 (GRCm39) S75P probably benign Het
Acad8 A T 9: 26,889,750 (GRCm39) F315I probably damaging Het
Adcy5 A G 16: 35,118,904 (GRCm39) Y1085C probably damaging Het
Aldh1a7 T C 19: 20,693,382 (GRCm39) K179R probably damaging Het
Arhgap10 C T 8: 77,977,583 (GRCm39) G776R probably damaging Het
Arhgap35 A C 7: 16,296,491 (GRCm39) F858C probably damaging Het
Ash1l C T 3: 88,984,381 (GRCm39) R2957W probably damaging Het
Atp6ap1l G T 13: 91,031,848 (GRCm39) A278E probably damaging Het
Btn1a1 A T 13: 23,643,521 (GRCm39) D309E probably damaging Het
Casd1 C T 6: 4,624,211 (GRCm39) R335C probably benign Het
Ceacam3 A G 7: 16,885,487 (GRCm39) Q30R Het
Cfap20 C T 8: 96,148,795 (GRCm39) C119Y probably damaging Het
Cntrl A T 2: 35,055,457 (GRCm39) probably null Het
Crot A G 5: 9,037,878 (GRCm39) V146A probably damaging Het
Cx3cl1 A G 8: 95,506,591 (GRCm39) S199G probably damaging Het
Ddhd1 A T 14: 45,895,263 (GRCm39) L69Q probably damaging Het
Dnah12 T C 14: 26,583,689 (GRCm39) F3195L probably damaging Het
Dpy19l3 A T 7: 35,408,055 (GRCm39) D450E probably benign Het
Ercc3 A T 18: 32,390,325 (GRCm39) N538I probably damaging Het
Fzd1 A T 5: 4,806,145 (GRCm39) V479E probably benign Het
Gart T C 16: 91,425,351 (GRCm39) Y638C possibly damaging Het
Gm2381 C A 7: 42,469,888 (GRCm39) V79L probably benign Het
Gucy1b1 T C 3: 81,950,469 (GRCm39) Y312C probably damaging Het
Hecw1 T A 13: 14,609,045 (GRCm39) M1L probably benign Het
Ip6k2 A G 9: 108,673,930 (GRCm39) I99V unknown Het
Itgb5 C T 16: 33,761,013 (GRCm39) T616I probably benign Het
Kmt2c A C 5: 25,505,360 (GRCm39) V3316G possibly damaging Het
Lama3 C T 18: 12,601,346 (GRCm39) R1008C probably damaging Het
Lin54 T C 5: 100,633,159 (GRCm39) D175G possibly damaging Het
Lrp2 A G 2: 69,318,395 (GRCm39) S2019P probably damaging Het
Lrrc9 A G 12: 72,513,726 (GRCm39) E528G probably benign Het
Lyz3 T C 10: 117,073,647 (GRCm39) N62S probably benign Het
Mto1 A G 9: 78,364,565 (GRCm39) H299R probably damaging Het
Myo19 G A 11: 84,796,439 (GRCm39) G684R probably benign Het
Or14c45 A C 7: 86,176,322 (GRCm39) D119A probably damaging Het
Or7g32 A T 9: 19,408,145 (GRCm39) M34L probably benign Het
Pcdh18 C A 3: 49,709,143 (GRCm39) C724F probably benign Het
Pcdha3 A T 18: 37,080,165 (GRCm39) K302N probably benign Het
Pcdhgb2 T C 18: 37,825,300 (GRCm39) F764L possibly damaging Het
Polr2m A T 9: 71,390,626 (GRCm39) I192N probably damaging Het
Polr2m G T 9: 71,390,815 (GRCm39) T129K probably benign Het
Pramel48 A G 5: 95,630,680 (GRCm39) I186V possibly damaging Het
Ptpn4 C T 1: 119,619,475 (GRCm39) probably null Het
Scgb1b19 A T 7: 32,986,940 (GRCm39) K30N possibly damaging Het
Shpk A G 11: 73,104,315 (GRCm39) T155A probably damaging Het
Slit3 T C 11: 35,461,546 (GRCm39) Y261H probably damaging Het
Sox13 A G 1: 133,313,243 (GRCm39) F438L possibly damaging Het
Sphk1 A T 11: 116,425,907 (GRCm39) E61D probably benign Het
St18 A G 1: 6,873,243 (GRCm39) D326G probably damaging Het
Syde1 G A 10: 78,422,032 (GRCm39) Q566* probably null Het
Tacc2 A G 7: 130,330,807 (GRCm39) T254A probably benign Het
Tbc1d1 A G 5: 64,330,827 (GRCm39) E2G probably damaging Het
Trim5 A T 7: 103,926,017 (GRCm39) N181K probably damaging Het
Trpc7 A T 13: 56,931,509 (GRCm39) I730K probably benign Het
Uqcrc1 T A 9: 108,776,926 (GRCm39) M377K probably benign Het
Vmn2r4 T C 3: 64,305,898 (GRCm39) N508S probably benign Het
Vmp1 A T 11: 86,477,402 (GRCm39) S333T probably benign Het
Vps50 T A 6: 3,578,854 (GRCm39) M639K possibly damaging Het
Zfp874b A T 13: 67,622,622 (GRCm39) C225* probably null 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
R4248: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
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'- ACAATCACCTAGGAGCAGGG -3'
(R):5'- GCATATAGAACATCTGAGCACACTTG -3'

Sequencing Primer
(F):5'- CCTAGGAGCAGGGTCCAGTAAC -3'
(R):5'- ACACTTGTGTTTTCCCGGC -3'
Posted On 2019-05-15