Incidental Mutation 'R0453:Pik3c2b'
ID 39735
Institutional Source Beutler Lab
Gene Symbol Pik3c2b
Ensembl Gene ENSMUSG00000026447
Gene Name phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
Synonyms C330011J12Rik, PI3K-C2beta
MMRRC Submission 038653-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R0453 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 133045667-133108687 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133077396 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 545 (V545E)
Ref Sequence ENSEMBL: ENSMUSP00000076911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077730]
AlphaFold E9QAN8
Predicted Effect probably damaging
Transcript: ENSMUST00000077730
AA Change: V545E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: V545E

DomainStartEndE-ValueType
low complexity region 155 160 N/A INTRINSIC
low complexity region 168 183 N/A INTRINSIC
PI3K_rbd 363 465 2.15e-19 SMART
PI3K_C2 618 726 6.17e-29 SMART
PI3Ka 804 990 1.66e-84 SMART
PI3Kc 1078 1340 3.45e-132 SMART
PX 1364 1476 9.44e-27 SMART
low complexity region 1481 1492 N/A INTRINSIC
C2 1517 1622 1.82e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124934
Meta Mutation Damage Score 0.6968 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (97/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,627,382 (GRCm38) K843* probably null Het
Adam26b T C 8: 43,520,350 (GRCm38) I538M probably benign Het
Adamtsl1 T C 4: 86,232,615 (GRCm38) Y337H probably damaging Het
Ak7 T C 12: 105,716,048 (GRCm38) M156T probably damaging Het
Aldh3a1 A G 11: 61,215,512 (GRCm38) M238V probably benign Het
Asic4 T A 1: 75,473,511 (GRCm38) probably benign Het
AW551984 A G 9: 39,600,641 (GRCm38) S25P probably damaging Het
Bbs7 T A 3: 36,607,669 (GRCm38) Y127F possibly damaging Het
Bco1 G A 8: 117,108,777 (GRCm38) E156K possibly damaging Het
Becn1 T C 11: 101,290,449 (GRCm38) D342G probably damaging Het
Birc6 T A 17: 74,649,754 (GRCm38) I3575N probably damaging Het
Brd10 T C 19: 29,753,668 (GRCm38) Y715C probably damaging Het
Cc2d2a A T 5: 43,703,294 (GRCm38) M522L probably benign Het
Cerkl A G 2: 79,342,451 (GRCm38) F293L probably benign Het
Chil3 T G 3: 106,148,905 (GRCm38) N311T probably benign Het
Cpeb2 T A 5: 43,285,713 (GRCm38) probably benign Het
Cpxm2 A G 7: 132,128,405 (GRCm38) S162P probably damaging Het
Cracr2b A C 7: 141,464,263 (GRCm38) E136A probably damaging Het
Cyp2a4 T A 7: 26,312,833 (GRCm38) M347K probably benign Het
Dicer1 C A 12: 104,702,630 (GRCm38) R1264S probably benign Het
Dlgap1 T A 17: 70,761,346 (GRCm38) N609K probably benign Het
Dnhd1 A G 7: 105,674,444 (GRCm38) T641A probably benign Het
Egfl8 T C 17: 34,614,882 (GRCm38) Y74C probably damaging Het
Esyt1 A G 10: 128,512,209 (GRCm38) S901P probably benign Het
Fam83e A T 7: 45,723,948 (GRCm38) D246V probably damaging Het
Galnt2 T C 8: 124,338,584 (GRCm38) probably benign Het
Hdc A G 2: 126,594,951 (GRCm38) probably benign Het
Herc1 A C 9: 66,399,772 (GRCm38) Q958P probably benign Het
Iqcg T A 16: 33,049,843 (GRCm38) probably benign Het
Iqub A T 6: 24,450,830 (GRCm38) F590Y probably damaging Het
Jak2 T C 19: 29,311,838 (GRCm38) I1130T probably benign Het
Kbtbd11 G A 8: 15,027,499 (GRCm38) A33T probably benign Het
Kcnip4 A G 5: 48,509,712 (GRCm38) L37P probably damaging Het
Klk6 A G 7: 43,828,539 (GRCm38) N112D probably damaging Het
Kmt2c G A 5: 25,354,747 (GRCm38) T1011I probably damaging Het
Knl1 A T 2: 119,068,388 (GRCm38) K190M probably damaging Het
Lama3 T A 18: 12,465,478 (GRCm38) S981T possibly damaging Het
Lrrc18 T C 14: 33,008,651 (GRCm38) L49P probably damaging Het
Lrrc31 T C 3: 30,687,525 (GRCm38) E245G probably damaging Het
Lypd10 T A 7: 24,714,287 (GRCm38) S243T probably benign Het
Macf1 T C 4: 123,444,944 (GRCm38) I2456M probably benign Het
Mcm6 T A 1: 128,333,555 (GRCm38) T771S probably benign Het
Met A C 6: 17,534,198 (GRCm38) Y680S possibly damaging Het
Mixl1 T A 1: 180,696,646 (GRCm38) T123S probably damaging Het
Myh8 A T 11: 67,292,905 (GRCm38) I787F probably benign Het
Myocd A G 11: 65,196,225 (GRCm38) F292S probably damaging Het
Neb T C 2: 52,313,890 (GRCm38) probably null Het
Nfe2l1 A G 11: 96,827,368 (GRCm38) S114P probably damaging Het
Nrxn2 T C 19: 6,491,521 (GRCm38) S986P probably damaging Het
Oprl1 T C 2: 181,718,734 (GRCm38) probably null Het
Or11h6 T C 14: 50,643,004 (GRCm38) V241A possibly damaging Het
Or4a73 A T 2: 89,590,751 (GRCm38) Y121* probably null Het
Or5b101 T G 19: 13,027,931 (GRCm38) T133P probably damaging Het
Or6c8 A G 10: 129,079,771 (GRCm38) F64S probably damaging Het
Or8b53 G A 9: 38,756,129 (GRCm38) G147D probably damaging Het
Or8c9 A T 9: 38,330,171 (GRCm38) T195S probably benign Het
Panx2 T A 15: 89,068,407 (GRCm38) I359N probably damaging Het
Piwil4 T C 9: 14,727,452 (GRCm38) N259S probably benign Het
Plcxd2 A T 16: 45,980,556 (GRCm38) F102I probably damaging Het
Pld5 A T 1: 176,089,956 (GRCm38) M75K possibly damaging Het
Pmp22 T A 11: 63,151,103 (GRCm38) probably benign Het
Polr2a A G 11: 69,741,019 (GRCm38) S1074P possibly damaging Het
Pop1 T A 15: 34,526,206 (GRCm38) V649E possibly damaging Het
Prc1 A G 7: 80,313,102 (GRCm38) N548S probably damaging Het
Prss51 T C 14: 64,097,139 (GRCm38) L202P probably damaging Het
Rhpn1 T C 15: 75,713,579 (GRCm38) S576P possibly damaging Het
Rictor A G 15: 6,708,642 (GRCm38) D20G probably benign Het
Rpl13a-ps1 A T 19: 50,030,206 (GRCm38) L177* probably null Het
Rpl23a-ps1 T G 1: 45,981,927 (GRCm38) noncoding transcript Het
Saa2 A G 7: 46,753,478 (GRCm38) D51G probably damaging Het
Sec31a A T 5: 100,404,118 (GRCm38) probably benign Het
Secisbp2 G A 13: 51,683,325 (GRCm38) E841K possibly damaging Het
Serinc1 A G 10: 57,517,210 (GRCm38) Y437H probably damaging Het
Slc39a12 A T 2: 14,435,681 (GRCm38) H481L probably benign Het
Suz12 T A 11: 80,030,033 (GRCm38) N586K probably damaging Het
Synm T C 7: 67,736,882 (GRCm38) Y344C possibly damaging Het
Tas2r104 A G 6: 131,685,341 (GRCm38) V135A probably benign Het
Tdrd9 T C 12: 112,068,239 (GRCm38) S1371P probably benign Het
Tg T A 15: 66,828,533 (GRCm38) D893E probably benign Het
Thoc5 C A 11: 4,918,217 (GRCm38) D423E possibly damaging Het
Trim11 G A 11: 58,990,535 (GRCm38) R418H probably damaging Het
Trim52 T G 14: 106,106,965 (GRCm38) V19G probably damaging Het
Tuba4a C A 1: 75,215,858 (GRCm38) V371L probably damaging Het
Ugt8a A G 3: 125,914,957 (GRCm38) V168A probably benign Het
Ulk1 C T 5: 110,791,085 (GRCm38) G496R probably damaging Het
Usp40 A G 1: 87,946,598 (GRCm38) *1236Q probably null Het
Vmn2r100 C A 17: 19,522,120 (GRCm38) P252Q possibly damaging Het
Vmn2r24 A G 6: 123,780,391 (GRCm38) probably null Het
Vmn2r53 A G 7: 12,582,411 (GRCm38) Y494H probably damaging Het
Vmn2r65 T A 7: 84,946,234 (GRCm38) D414V probably benign Het
Wdr26 A T 1: 181,182,879 (GRCm38) L519* probably null Het
Wnk1 A G 6: 119,963,151 (GRCm38) V173A probably damaging Het
Zfp217 C T 2: 170,115,462 (GRCm38) A539T probably benign Het
Zfp318 T C 17: 46,396,708 (GRCm38) S231P probably damaging Het
Zfp398 T C 6: 47,865,848 (GRCm38) V146A probably benign Het
Zfp410 T C 12: 84,331,712 (GRCm38) M270T probably damaging Het
Zfp445 A T 9: 122,853,513 (GRCm38) H454Q possibly damaging Het
Other mutations in Pik3c2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Pik3c2b APN 1 133,091,618 (GRCm38) missense probably damaging 0.98
IGL01288:Pik3c2b APN 1 133,094,805 (GRCm38) missense probably damaging 0.96
IGL01313:Pik3c2b APN 1 133,071,631 (GRCm38) nonsense probably null
IGL01367:Pik3c2b APN 1 133,105,988 (GRCm38) missense probably benign 0.02
IGL02379:Pik3c2b APN 1 133,094,791 (GRCm38) missense probably damaging 1.00
IGL02638:Pik3c2b APN 1 133,077,318 (GRCm38) splice site probably benign
IGL02728:Pik3c2b APN 1 133,092,327 (GRCm38) missense probably benign 0.09
IGL02992:Pik3c2b APN 1 133,066,980 (GRCm38) nonsense probably null
IGL03121:Pik3c2b APN 1 133,079,745 (GRCm38) missense probably benign 0.00
R0518:Pik3c2b UTSW 1 133,105,992 (GRCm38) missense probably damaging 1.00
R0616:Pik3c2b UTSW 1 133,100,831 (GRCm38) missense probably damaging 1.00
R0659:Pik3c2b UTSW 1 133,071,200 (GRCm38) missense probably damaging 0.99
R1542:Pik3c2b UTSW 1 133,090,034 (GRCm38) missense probably damaging 1.00
R1716:Pik3c2b UTSW 1 133,094,826 (GRCm38) missense probably damaging 1.00
R1728:Pik3c2b UTSW 1 133,066,627 (GRCm38) missense probably benign 0.00
R1729:Pik3c2b UTSW 1 133,066,627 (GRCm38) missense probably benign 0.00
R1730:Pik3c2b UTSW 1 133,066,627 (GRCm38) missense probably benign 0.00
R1739:Pik3c2b UTSW 1 133,066,627 (GRCm38) missense probably benign 0.00
R1762:Pik3c2b UTSW 1 133,066,627 (GRCm38) missense probably benign 0.00
R1783:Pik3c2b UTSW 1 133,066,627 (GRCm38) missense probably benign 0.00
R1784:Pik3c2b UTSW 1 133,066,627 (GRCm38) missense probably benign 0.00
R1785:Pik3c2b UTSW 1 133,066,627 (GRCm38) missense probably benign 0.00
R1816:Pik3c2b UTSW 1 133,101,370 (GRCm38) missense probably benign 0.00
R1897:Pik3c2b UTSW 1 133,066,916 (GRCm38) missense possibly damaging 0.57
R2006:Pik3c2b UTSW 1 133,066,544 (GRCm38) missense probably damaging 1.00
R2067:Pik3c2b UTSW 1 133,099,611 (GRCm38) missense probably damaging 1.00
R2271:Pik3c2b UTSW 1 133,103,428 (GRCm38) missense probably benign
R2294:Pik3c2b UTSW 1 133,066,775 (GRCm38) missense probably damaging 1.00
R2320:Pik3c2b UTSW 1 133,103,413 (GRCm38) missense probably damaging 1.00
R4735:Pik3c2b UTSW 1 133,067,049 (GRCm38) missense probably benign 0.25
R4926:Pik3c2b UTSW 1 133,099,626 (GRCm38) nonsense probably null
R4948:Pik3c2b UTSW 1 133,099,715 (GRCm38) critical splice donor site probably null
R4997:Pik3c2b UTSW 1 133,105,081 (GRCm38) missense probably damaging 1.00
R5304:Pik3c2b UTSW 1 133,070,408 (GRCm38) missense possibly damaging 0.50
R5461:Pik3c2b UTSW 1 133,099,702 (GRCm38) missense possibly damaging 0.66
R5722:Pik3c2b UTSW 1 133,103,836 (GRCm38) missense probably damaging 1.00
R5971:Pik3c2b UTSW 1 133,074,627 (GRCm38) splice site probably null
R5980:Pik3c2b UTSW 1 133,088,308 (GRCm38) missense probably benign 0.43
R6036:Pik3c2b UTSW 1 133,090,713 (GRCm38) missense possibly damaging 0.95
R6138:Pik3c2b UTSW 1 133,074,627 (GRCm38) splice site probably null
R6223:Pik3c2b UTSW 1 133,070,357 (GRCm38) missense probably damaging 1.00
R6273:Pik3c2b UTSW 1 133,066,711 (GRCm38) missense probably benign 0.02
R6742:Pik3c2b UTSW 1 133,075,821 (GRCm38) missense probably benign
R6954:Pik3c2b UTSW 1 133,066,303 (GRCm38) missense possibly damaging 0.50
R6998:Pik3c2b UTSW 1 133,102,372 (GRCm38) missense probably benign 0.23
R7103:Pik3c2b UTSW 1 133,105,974 (GRCm38) missense probably damaging 1.00
R7133:Pik3c2b UTSW 1 133,090,234 (GRCm38) missense possibly damaging 0.73
R7161:Pik3c2b UTSW 1 133,106,112 (GRCm38) missense probably damaging 0.98
R7183:Pik3c2b UTSW 1 133,066,465 (GRCm38) missense probably benign 0.00
R7193:Pik3c2b UTSW 1 133,079,774 (GRCm38) missense probably benign 0.00
R7252:Pik3c2b UTSW 1 133,094,734 (GRCm38) missense probably benign 0.19
R7263:Pik3c2b UTSW 1 133,090,202 (GRCm38) missense probably damaging 0.98
R7404:Pik3c2b UTSW 1 133,090,706 (GRCm38) missense probably damaging 1.00
R7709:Pik3c2b UTSW 1 133,079,841 (GRCm38) critical splice donor site probably null
R7712:Pik3c2b UTSW 1 133,085,611 (GRCm38) missense probably damaging 1.00
R7823:Pik3c2b UTSW 1 133,102,305 (GRCm38) missense probably damaging 1.00
R7831:Pik3c2b UTSW 1 133,071,242 (GRCm38) missense possibly damaging 0.94
R7913:Pik3c2b UTSW 1 133,090,061 (GRCm38) critical splice donor site probably null
R7916:Pik3c2b UTSW 1 133,100,904 (GRCm38) missense probably benign 0.30
R7960:Pik3c2b UTSW 1 133,103,849 (GRCm38) missense probably damaging 1.00
R7981:Pik3c2b UTSW 1 133,075,809 (GRCm38) critical splice acceptor site probably null
R8346:Pik3c2b UTSW 1 133,090,246 (GRCm38) missense probably damaging 0.97
R8938:Pik3c2b UTSW 1 133,088,330 (GRCm38) missense probably benign 0.19
R8997:Pik3c2b UTSW 1 133,090,779 (GRCm38) missense possibly damaging 0.83
R9416:Pik3c2b UTSW 1 133,077,449 (GRCm38) missense probably damaging 1.00
R9598:Pik3c2b UTSW 1 133,084,987 (GRCm38) critical splice donor site probably null
R9621:Pik3c2b UTSW 1 133,071,607 (GRCm38) missense probably damaging 1.00
R9742:Pik3c2b UTSW 1 133,094,749 (GRCm38) missense probably damaging 1.00
R9776:Pik3c2b UTSW 1 133,090,850 (GRCm38) missense possibly damaging 0.64
R9786:Pik3c2b UTSW 1 133,091,600 (GRCm38) missense possibly damaging 0.94
U15987:Pik3c2b UTSW 1 133,074,627 (GRCm38) splice site probably null
X0060:Pik3c2b UTSW 1 133,084,936 (GRCm38) missense probably benign 0.18
Z1176:Pik3c2b UTSW 1 133,099,686 (GRCm38) nonsense probably null
Z1176:Pik3c2b UTSW 1 133,066,553 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCGTGGTTCCTGCAATTCCTC -3'
(R):5'- AAAGCCTTTCTGGCCTTGGCTC -3'

Sequencing Primer
(F):5'- TCCTCCTTAGAGTCATTAACACAG -3'
(R):5'- gcctctgcctcccaaattc -3'
Posted On 2013-05-23