Incidental Mutation 'R4926:Pik3c2b'
ID 379004
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 042527-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R4926 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 133045667-133108687 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 133099626 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 1288 (E1288*)
Ref Sequence ENSEMBL: ENSMUSP00000076911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077730]
AlphaFold E9QAN8
Predicted Effect probably null
Transcript: ENSMUST00000077730
AA Change: E1288*
SMART Domains Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: E1288*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (87/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,395,299 (GRCm38) D136V probably damaging Het
Ankrd17 G A 5: 90,300,032 (GRCm38) R217W probably damaging Het
Ankrd23 A T 1: 36,531,987 (GRCm38) H102Q probably damaging Het
Arfip2 G T 7: 105,637,944 (GRCm38) R138S probably damaging Het
Arhgap27 A T 11: 103,339,123 (GRCm38) probably null Het
Atg2a T C 19: 6,257,533 (GRCm38) L1499P probably damaging Het
Bnc2 A G 4: 84,276,179 (GRCm38) S110P probably damaging Het
Ccdc171 T C 4: 83,558,592 (GRCm38) probably benign Het
Ccdc7a A G 8: 128,980,054 (GRCm38) probably benign Het
Chd5 T C 4: 152,383,311 (GRCm38) S1689P probably benign Het
Corin A G 5: 72,372,182 (GRCm38) C212R probably damaging Het
Cyp2c65 A G 19: 39,061,153 (GRCm38) I42V probably benign Het
Cyp3a25 G A 5: 145,991,456 (GRCm38) R260C probably damaging Het
Dock6 T C 9: 21,845,791 (GRCm38) Y116C probably damaging Het
Eif3a A G 19: 60,763,218 (GRCm38) probably benign Het
Epop T C 11: 97,628,317 (GRCm38) D322G probably damaging Het
Eps8l3 T A 3: 107,890,688 (GRCm38) probably benign Het
Exph5 T C 9: 53,376,625 (GRCm38) S1669P possibly damaging Het
Faah A T 4: 115,999,626 (GRCm38) probably benign Het
Fanca A G 8: 123,303,985 (GRCm38) C453R probably benign Het
Fcgbp T A 7: 28,086,235 (GRCm38) C366S probably damaging Het
Fmn2 A G 1: 174,502,415 (GRCm38) T124A unknown Het
Foxi3 C T 6: 70,957,012 (GRCm38) S161L probably damaging Het
Foxo3 A T 10: 42,197,024 (GRCm38) V499E probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,430,958 (GRCm38) probably benign Het
Gbgt1 T C 2: 28,503,170 (GRCm38) V90A probably damaging Het
Gm839 A C 6: 89,212,599 (GRCm38) noncoding transcript Het
Gtf3c2 T C 5: 31,169,123 (GRCm38) E348G possibly damaging Het
Hnrnpm G T 17: 33,649,801 (GRCm38) R551S probably damaging Het
Hspa1l A G 17: 34,978,223 (GRCm38) T413A possibly damaging Het
Hspg2 T C 4: 137,542,530 (GRCm38) Y2297H probably damaging Het
Ighv1-81 T A 12: 115,920,473 (GRCm38) I53L probably benign Het
Kcnj11 C T 7: 46,099,120 (GRCm38) V260I probably benign Het
Krt84 A G 15: 101,530,254 (GRCm38) V266A probably benign Het
Lgals3bp T C 11: 118,393,955 (GRCm38) Y266C probably damaging Het
Lrrc41 T C 4: 116,089,324 (GRCm38) V412A possibly damaging Het
Map4k4 A T 1: 40,017,225 (GRCm38) E1023D probably damaging Het
Mark3 T A 12: 111,618,324 (GRCm38) L118* probably null Het
Mrgpra9 T A 7: 47,235,011 (GRCm38) T303S possibly damaging Het
Mterf4 T C 1: 93,304,925 (GRCm38) E68G probably benign Het
Nckap5 A C 1: 126,528,641 (GRCm38) probably benign Het
Nox3 T A 17: 3,669,894 (GRCm38) T339S probably damaging Het
Nrip2 A C 6: 128,408,374 (GRCm38) H256P probably benign Het
Oas1d T C 5: 120,915,768 (GRCm38) V97A probably benign Het
Obox2 T A 7: 15,397,177 (GRCm38) probably null Het
Olfr979 T C 9: 40,001,023 (GRCm38) probably null Het
Opa1 T C 16: 29,648,973 (GRCm38) F989S possibly damaging Het
Padi1 T A 4: 140,824,847 (GRCm38) I429F probably damaging Het
Paics A G 5: 76,961,204 (GRCm38) D163G probably damaging Het
Prdm16 A T 4: 154,341,552 (GRCm38) V593D possibly damaging Het
Prpf39 A G 12: 65,044,056 (GRCm38) I165M possibly damaging Het
Pth2r A G 1: 65,321,984 (GRCm38) T26A probably benign Het
Ptpn21 T C 12: 98,715,195 (GRCm38) probably null Het
Rab44 C T 17: 29,139,555 (GRCm38) A239V probably benign Het
Rtcb T C 10: 85,955,736 (GRCm38) N52S probably benign Het
Sapcd2 T A 2: 25,373,566 (GRCm38) probably null Het
Scaf11 T C 15: 96,418,242 (GRCm38) E1147G possibly damaging Het
Selenoo T C 15: 89,099,678 (GRCm38) Y595H probably damaging Het
Slc2a5 G T 4: 150,120,742 (GRCm38) E3* probably null Het
Snw1 A G 12: 87,452,658 (GRCm38) V391A probably benign Het
Sorbs2 A G 8: 45,796,217 (GRCm38) K755R probably benign Het
Sorbs3 G T 14: 70,186,945 (GRCm38) P513T probably damaging Het
Sowaha T A 11: 53,479,510 (GRCm38) E133V possibly damaging Het
Srsf5 T C 12: 80,947,301 (GRCm38) probably benign Het
St8sia5 T A 18: 77,254,782 (GRCm38) M396K possibly damaging Het
Tcp11l1 T C 2: 104,681,785 (GRCm38) I501V probably benign Het
Tert A G 13: 73,648,389 (GRCm38) K1080E possibly damaging Het
Tescl T A 7: 24,333,898 (GRCm38) M1L possibly damaging Het
Thop1 T A 10: 81,073,367 (GRCm38) probably null Het
Tmtc4 T C 14: 122,973,206 (GRCm38) H80R probably damaging Het
Toe1 C T 4: 116,804,532 (GRCm38) S480N probably damaging Het
Trap1 C A 16: 4,045,488 (GRCm38) V557F probably benign Het
Trim30d T C 7: 104,483,357 (GRCm38) E91G probably benign Het
Ttf1 C T 2: 29,064,656 (GRCm38) H11Y possibly damaging Het
Ttll8 C A 15: 88,914,165 (GRCm38) G789V probably damaging Het
Ulk4 A G 9: 121,258,732 (GRCm38) F298S probably benign Het
Wwc1 C T 11: 35,889,400 (GRCm38) A243T probably benign Het
Zfp248 A C 6: 118,429,826 (GRCm38) H267Q possibly damaging Het
Zfyve26 T A 12: 79,275,011 (GRCm38) M945L probably benign Het
Zufsp T C 10: 33,949,438 (GRCm38) D16G probably 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
R0453:Pik3c2b UTSW 1 133,077,396 (GRCm38) missense probably damaging 1.00
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
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'- TCTTCCCTAAGGGCATCCAG -3'
(R):5'- CCTTAACGTTTGGGCTAAGC -3'

Sequencing Primer
(F):5'- GGGGCCTGACCTCTTACTTTAG -3'
(R):5'- GCTAAGCCTGTCCCACTG -3'
Posted On 2016-04-15