Incidental Mutation 'R0635:Pik3cb'
ID 56613
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 038824-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R0635 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 98920455-99022264 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 98946271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035037] [ENSMUST00000136965]
AlphaFold Q8BTI9
Predicted Effect probably benign
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: 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 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 99% (68/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,264,891 (GRCm39) probably benign Het
Adamts15 A G 9: 30,816,066 (GRCm39) L631P probably damaging Het
Adamts17 T C 7: 66,558,353 (GRCm39) F266L probably damaging Het
Adgrb1 C A 15: 74,412,741 (GRCm39) Q488K possibly damaging Het
Armh4 A G 14: 50,010,600 (GRCm39) L369S probably benign Het
Cep290 A G 10: 100,328,538 (GRCm39) D109G probably damaging Het
Chil5 A T 3: 105,924,519 (GRCm39) Y229N possibly damaging Het
Cntnap1 A G 11: 101,074,285 (GRCm39) T742A probably benign Het
Col6a3 A T 1: 90,735,808 (GRCm39) probably null Het
Col6a5 G A 9: 105,805,805 (GRCm39) P1034S unknown Het
Daxx T A 17: 34,131,618 (GRCm39) D442E probably benign Het
Dmxl1 T C 18: 49,984,490 (GRCm39) probably benign Het
Dnah11 A G 12: 117,971,731 (GRCm39) F2942S probably damaging Het
Garin4 T C 1: 190,895,924 (GRCm39) T240A probably benign Het
Glg1 A G 8: 111,890,396 (GRCm39) probably benign Het
Gm10272 G A 10: 77,542,535 (GRCm39) probably benign Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Haao A G 17: 84,146,003 (GRCm39) F83S probably damaging Het
Hdgfl2 T A 17: 56,403,057 (GRCm39) L177Q probably damaging Het
Hrh1 T C 6: 114,457,106 (GRCm39) V129A probably damaging Het
Ift43 T A 12: 86,131,855 (GRCm39) probably benign Het
Il21r T C 7: 125,231,678 (GRCm39) Y369H probably damaging Het
Il2ra C T 2: 11,685,177 (GRCm39) T171M probably benign Het
Lao1 C T 4: 118,825,493 (GRCm39) R438C probably benign Het
Lrrcc1 G A 3: 14,624,288 (GRCm39) S350N probably benign Het
Mageb5 T A X: 90,823,599 (GRCm39) Y260F probably benign Het
Marchf5 A T 19: 37,197,807 (GRCm39) I159F possibly damaging Het
Mgat4a G A 1: 37,491,375 (GRCm39) A282V probably benign Het
Mipep G A 14: 61,066,839 (GRCm39) V420I probably damaging Het
Morc2b A T 17: 33,356,661 (GRCm39) F370L possibly damaging Het
Mt1 A T 8: 94,906,449 (GRCm39) probably null Het
Ncapd2 A G 6: 125,149,999 (GRCm39) V943A probably benign Het
Nkd2 T C 13: 73,975,013 (GRCm39) D58G probably benign Het
Nol8 C G 13: 49,830,234 (GRCm39) S1106C probably benign Het
Nrm C A 17: 36,175,156 (GRCm39) Y61* probably null Het
Nusap1 A G 2: 119,458,148 (GRCm39) T95A probably damaging Het
Ocln T A 13: 100,642,744 (GRCm39) Q197L probably damaging Het
Or5p70 T A 7: 107,994,971 (GRCm39) F215I probably benign Het
Oxtr A G 6: 112,466,161 (GRCm39) Y200H probably damaging Het
Paip2b T C 6: 83,786,891 (GRCm39) E115G possibly damaging Het
Pcm1 T A 8: 41,720,216 (GRCm39) probably benign Het
Pcnt T C 10: 76,240,419 (GRCm39) D1205G probably damaging Het
Phka1 G A X: 101,665,006 (GRCm39) R186C probably damaging Het
Pik3r1 C T 13: 101,893,926 (GRCm39) R81K probably benign Het
Ppa1 A G 10: 61,501,219 (GRCm39) D162G probably benign Het
Ppa1 A G 10: 61,502,749 (GRCm39) R191G probably damaging Het
Ppp4r3c2 T C X: 88,796,128 (GRCm39) probably benign Het
Prss22 T A 17: 24,215,662 (GRCm39) T87S probably benign Het
Rgr T A 14: 36,760,904 (GRCm39) R218* probably null Het
Rreb1 A T 13: 38,125,540 (GRCm39) Q1282L possibly damaging Het
Scel T A 14: 103,820,575 (GRCm39) probably null Het
Sema6b A G 17: 56,436,971 (GRCm39) probably null Het
Slc4a1 T C 11: 102,243,498 (GRCm39) E711G possibly damaging Het
Snx19 C A 9: 30,340,106 (GRCm39) L415M probably damaging Het
Snx19 T G 9: 30,340,107 (GRCm39) L415R probably damaging Het
Specc1 G A 11: 62,009,729 (GRCm39) R495Q probably damaging Het
Tead1 T C 7: 112,490,913 (GRCm39) probably benign Het
Timm10b A C 7: 105,289,895 (GRCm39) probably benign Het
Ubxn7 T A 16: 32,186,235 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,605,861 (GRCm39) Y258N possibly damaging Het
Vmn2r77 T A 7: 86,460,383 (GRCm39) F570I probably benign Het
Vmn2r98 T C 17: 19,300,759 (GRCm39) V587A probably benign Het
Zfp398 T C 6: 47,840,074 (GRCm39) I101T probably damaging Het
Zfp808 T A 13: 62,320,233 (GRCm39) H487Q 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
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
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'- GAGATGTGGAGCCCTTAAAGGCTG -3'
(R):5'- AGTGCCATCTAGTGTTTGCACTTGG -3'

Sequencing Primer
(F):5'- acacacacacacacacacac -3'
(R):5'- CTAGTGTTTGCACTTGGATTTTATAC -3'
Posted On 2013-07-11