Incidental Mutation 'R5461:Pik3c2b'
ID 433003
Institutional Source Beutler Lab
Gene Symbol Pik3c2b
Ensembl Gene ENSMUSG00000026447
Gene Name phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
Synonyms PI3K-C2beta, C330011J12Rik
MMRRC Submission 043023-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R5461 (G1)
Quality Score 214
Status Validated
Chromosome 1
Chromosomal Location 132973410-133036429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133027440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1313 (T1313I)
Ref Sequence ENSEMBL: ENSMUSP00000076911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077730]
AlphaFold E9QAN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000077730
AA Change: T1313I

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: T1313I

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 0.0989 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,643 (GRCm39) I405K possibly damaging Het
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Adgrg6 A T 10: 14,296,248 (GRCm39) W1079R probably damaging Het
Arsa T C 15: 89,357,478 (GRCm39) H495R probably benign Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Brsk2 T C 7: 141,541,643 (GRCm39) L152P probably damaging Het
C8a T C 4: 104,673,042 (GRCm39) probably benign Het
Ccdc177 G A 12: 80,804,816 (GRCm39) A486V unknown Het
Cpa2 A G 6: 30,544,180 (GRCm39) T38A probably benign Het
Crim1 T G 17: 78,545,236 (GRCm39) C133G probably damaging Het
Dnah2 C T 11: 69,364,177 (GRCm39) probably null Het
Ep400 G A 5: 110,824,550 (GRCm39) Q2392* probably null Het
Exoc2 C T 13: 31,109,738 (GRCm39) S210N possibly damaging Het
Gm7003 A G 12: 113,766,847 (GRCm39) probably benign Het
Hydin A G 8: 111,245,863 (GRCm39) K2192R probably damaging Het
Ica1l T C 1: 60,053,010 (GRCm39) D176G probably damaging Het
Ints10 G A 8: 69,246,693 (GRCm39) E8K possibly damaging Het
Itgb8 T C 12: 119,131,740 (GRCm39) E635G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kng1 A G 16: 22,897,887 (GRCm39) H429R probably benign Het
Mcm3 T C 1: 20,884,661 (GRCm39) I281V probably benign Het
Msi1 T C 5: 115,579,450 (GRCm39) S200P possibly damaging Het
Nat3 T C 8: 68,000,514 (GRCm39) L131P probably damaging Het
Ncor2 T C 5: 125,104,177 (GRCm39) E1752G probably damaging Het
Nnt C T 13: 119,505,131 (GRCm39) A414T possibly damaging Het
Nrp2 C T 1: 62,786,370 (GRCm39) Q292* probably null Het
Or51ah3 T A 7: 103,209,780 (GRCm39) L32Q probably damaging Het
Or52k2 G A 7: 102,253,615 (GRCm39) G18D probably damaging Het
Otop1 A T 5: 38,457,059 (GRCm39) I273F probably damaging Het
Phactr3 T A 2: 177,920,694 (GRCm39) N177K probably benign Het
Pikfyve C A 1: 65,274,192 (GRCm39) D677E probably damaging Het
Poc1a T C 9: 106,165,209 (GRCm39) F157L probably damaging Het
Prodh2 G T 7: 30,193,948 (GRCm39) R185L possibly damaging Het
Rcc1 T C 4: 132,061,497 (GRCm39) I350M probably benign Het
Rhd G A 4: 134,611,928 (GRCm39) A249T probably damaging Het
Rtf2 A G 2: 172,287,252 (GRCm39) Y57C probably damaging Het
Shmt1 A G 11: 60,685,725 (GRCm39) S284P possibly damaging Het
Shpk T C 11: 73,090,361 (GRCm39) V6A probably benign Het
Slc4a5 T C 6: 83,262,836 (GRCm39) V661A probably benign Het
Spesp1 A T 9: 62,180,014 (GRCm39) L298Q probably damaging Het
Tas1r2 C A 4: 139,387,320 (GRCm39) Q231K probably benign Het
Tcp11l1 T C 2: 104,518,856 (GRCm39) Y280C probably benign Het
Tnip1 T C 11: 54,801,625 (GRCm39) probably benign Het
Topbp1 T A 9: 103,192,395 (GRCm39) D295E probably benign Het
Unc79 C T 12: 103,078,397 (GRCm39) L1521F probably damaging Het
Usp10 T C 8: 120,683,406 (GRCm39) I759T probably benign Het
Vmn1r30 A T 6: 58,412,759 (GRCm39) C24* probably null Het
Vmn2r104 T A 17: 20,250,343 (GRCm39) I643F probably damaging Het
Wwc1 T A 11: 35,758,199 (GRCm39) T716S probably damaging Het
Zfp949 C T 9: 88,451,537 (GRCm39) T369M probably benign Het
Zhx3 A G 2: 160,621,938 (GRCm39) V743A probably benign Het
Other mutations in Pik3c2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Pik3c2b APN 1 133,019,356 (GRCm39) missense probably damaging 0.98
IGL01288:Pik3c2b APN 1 133,022,543 (GRCm39) missense probably damaging 0.96
IGL01313:Pik3c2b APN 1 132,999,369 (GRCm39) nonsense probably null
IGL01367:Pik3c2b APN 1 133,033,726 (GRCm39) missense probably benign 0.02
IGL02379:Pik3c2b APN 1 133,022,529 (GRCm39) missense probably damaging 1.00
IGL02638:Pik3c2b APN 1 133,005,056 (GRCm39) splice site probably benign
IGL02728:Pik3c2b APN 1 133,020,065 (GRCm39) missense probably benign 0.09
IGL02992:Pik3c2b APN 1 132,994,718 (GRCm39) nonsense probably null
IGL03121:Pik3c2b APN 1 133,007,483 (GRCm39) missense probably benign 0.00
R0453:Pik3c2b UTSW 1 133,005,134 (GRCm39) missense probably damaging 1.00
R0518:Pik3c2b UTSW 1 133,033,730 (GRCm39) missense probably damaging 1.00
R0616:Pik3c2b UTSW 1 133,028,569 (GRCm39) missense probably damaging 1.00
R0659:Pik3c2b UTSW 1 132,998,938 (GRCm39) missense probably damaging 0.99
R1542:Pik3c2b UTSW 1 133,017,772 (GRCm39) missense probably damaging 1.00
R1716:Pik3c2b UTSW 1 133,022,564 (GRCm39) missense probably damaging 1.00
R1728:Pik3c2b UTSW 1 132,994,365 (GRCm39) missense probably benign 0.00
R1729:Pik3c2b UTSW 1 132,994,365 (GRCm39) missense probably benign 0.00
R1730:Pik3c2b UTSW 1 132,994,365 (GRCm39) missense probably benign 0.00
R1739:Pik3c2b UTSW 1 132,994,365 (GRCm39) missense probably benign 0.00
R1762:Pik3c2b UTSW 1 132,994,365 (GRCm39) missense probably benign 0.00
R1783:Pik3c2b UTSW 1 132,994,365 (GRCm39) missense probably benign 0.00
R1784:Pik3c2b UTSW 1 132,994,365 (GRCm39) missense probably benign 0.00
R1785:Pik3c2b UTSW 1 132,994,365 (GRCm39) missense probably benign 0.00
R1816:Pik3c2b UTSW 1 133,029,108 (GRCm39) missense probably benign 0.00
R1897:Pik3c2b UTSW 1 132,994,654 (GRCm39) missense possibly damaging 0.57
R2006:Pik3c2b UTSW 1 132,994,282 (GRCm39) missense probably damaging 1.00
R2067:Pik3c2b UTSW 1 133,027,349 (GRCm39) missense probably damaging 1.00
R2271:Pik3c2b UTSW 1 133,031,166 (GRCm39) missense probably benign
R2294:Pik3c2b UTSW 1 132,994,513 (GRCm39) missense probably damaging 1.00
R2320:Pik3c2b UTSW 1 133,031,151 (GRCm39) missense probably damaging 1.00
R4735:Pik3c2b UTSW 1 132,994,787 (GRCm39) missense probably benign 0.25
R4926:Pik3c2b UTSW 1 133,027,364 (GRCm39) nonsense probably null
R4948:Pik3c2b UTSW 1 133,027,453 (GRCm39) critical splice donor site probably null
R4997:Pik3c2b UTSW 1 133,032,819 (GRCm39) missense probably damaging 1.00
R5304:Pik3c2b UTSW 1 132,998,146 (GRCm39) missense possibly damaging 0.50
R5722:Pik3c2b UTSW 1 133,031,574 (GRCm39) missense probably damaging 1.00
R5971:Pik3c2b UTSW 1 133,002,365 (GRCm39) splice site probably null
R5980:Pik3c2b UTSW 1 133,016,046 (GRCm39) missense probably benign 0.43
R6036:Pik3c2b UTSW 1 133,018,451 (GRCm39) missense possibly damaging 0.95
R6138:Pik3c2b UTSW 1 133,002,365 (GRCm39) splice site probably null
R6223:Pik3c2b UTSW 1 132,998,095 (GRCm39) missense probably damaging 1.00
R6273:Pik3c2b UTSW 1 132,994,449 (GRCm39) missense probably benign 0.02
R6742:Pik3c2b UTSW 1 133,003,559 (GRCm39) missense probably benign
R6954:Pik3c2b UTSW 1 132,994,041 (GRCm39) missense possibly damaging 0.50
R6998:Pik3c2b UTSW 1 133,030,110 (GRCm39) missense probably benign 0.23
R7103:Pik3c2b UTSW 1 133,033,712 (GRCm39) missense probably damaging 1.00
R7133:Pik3c2b UTSW 1 133,017,972 (GRCm39) missense possibly damaging 0.73
R7161:Pik3c2b UTSW 1 133,033,850 (GRCm39) missense probably damaging 0.98
R7183:Pik3c2b UTSW 1 132,994,203 (GRCm39) missense probably benign 0.00
R7193:Pik3c2b UTSW 1 133,007,512 (GRCm39) missense probably benign 0.00
R7252:Pik3c2b UTSW 1 133,022,472 (GRCm39) missense probably benign 0.19
R7263:Pik3c2b UTSW 1 133,017,940 (GRCm39) missense probably damaging 0.98
R7404:Pik3c2b UTSW 1 133,018,444 (GRCm39) missense probably damaging 1.00
R7709:Pik3c2b UTSW 1 133,007,579 (GRCm39) critical splice donor site probably null
R7712:Pik3c2b UTSW 1 133,013,349 (GRCm39) missense probably damaging 1.00
R7823:Pik3c2b UTSW 1 133,030,043 (GRCm39) missense probably damaging 1.00
R7831:Pik3c2b UTSW 1 132,998,980 (GRCm39) missense possibly damaging 0.94
R7913:Pik3c2b UTSW 1 133,017,799 (GRCm39) critical splice donor site probably null
R7916:Pik3c2b UTSW 1 133,028,642 (GRCm39) missense probably benign 0.30
R7960:Pik3c2b UTSW 1 133,031,587 (GRCm39) missense probably damaging 1.00
R7981:Pik3c2b UTSW 1 133,003,547 (GRCm39) critical splice acceptor site probably null
R8346:Pik3c2b UTSW 1 133,017,984 (GRCm39) missense probably damaging 0.97
R8938:Pik3c2b UTSW 1 133,016,068 (GRCm39) missense probably benign 0.19
R8997:Pik3c2b UTSW 1 133,018,517 (GRCm39) missense possibly damaging 0.83
R9416:Pik3c2b UTSW 1 133,005,187 (GRCm39) missense probably damaging 1.00
R9598:Pik3c2b UTSW 1 133,012,725 (GRCm39) critical splice donor site probably null
R9621:Pik3c2b UTSW 1 132,999,345 (GRCm39) missense probably damaging 1.00
R9742:Pik3c2b UTSW 1 133,022,487 (GRCm39) missense probably damaging 1.00
R9776:Pik3c2b UTSW 1 133,018,588 (GRCm39) missense possibly damaging 0.64
R9786:Pik3c2b UTSW 1 133,019,338 (GRCm39) missense possibly damaging 0.94
U15987:Pik3c2b UTSW 1 133,002,365 (GRCm39) splice site probably null
X0060:Pik3c2b UTSW 1 133,012,674 (GRCm39) missense probably benign 0.18
Z1176:Pik3c2b UTSW 1 133,027,424 (GRCm39) nonsense probably null
Z1176:Pik3c2b UTSW 1 132,994,291 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGCCTATAACCCCAATCAGG -3'
(R):5'- ATATTGGCCTCAGAATGCAGACAG -3'

Sequencing Primer
(F):5'- GCAGCTTGTATAGAAAACCCTGGC -3'
(R):5'- TGCAGACAGGAACAAACTGATTAC -3'
Posted On 2016-10-06