Incidental Mutation 'R7263:Pik3c2b'
ID 564724
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 045388-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R7263 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 132973410-133036429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133017940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 934 (P934L)
Ref Sequence ENSEMBL: ENSMUSP00000076911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077730]
AlphaFold E9QAN8
Predicted Effect probably damaging
Transcript: ENSMUST00000077730
AA Change: P934L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: P934L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 96% (67/70)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C A 3: 121,847,843 (GRCm39) H55N probably damaging Het
Acan G T 7: 78,742,066 (GRCm39) V488L probably damaging Het
Adam12 T C 7: 133,521,240 (GRCm39) E638G possibly damaging Het
Adamts20 T A 15: 94,220,772 (GRCm39) Q1387L possibly damaging Het
Adamts3 G T 5: 89,825,601 (GRCm39) D1079E probably benign Het
Barx1 G T 13: 48,818,555 (GRCm39) G93C probably damaging Het
Carmil2 C T 8: 106,419,677 (GRCm39) R828C probably damaging Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Ccdc159 T C 9: 21,843,007 (GRCm39) M148T probably benign Het
Cdk5rap1 T A 2: 154,202,652 (GRCm39) N193Y probably benign Het
Csnk1g2 G A 10: 80,470,332 (GRCm39) G15D probably damaging Het
Dach1 T C 14: 98,406,295 (GRCm39) S151G probably benign Het
Elf5 C A 2: 103,269,645 (GRCm39) N75K probably benign Het
Elp3 T C 14: 65,802,782 (GRCm39) D272G probably damaging Het
Epb41l1 T A 2: 156,337,043 (GRCm39) probably null Het
Epha6 A G 16: 59,596,028 (GRCm39) Y888H probably damaging Het
Fibcd1 T C 2: 31,707,222 (GRCm39) Y345C probably damaging Het
Gjd3 C T 11: 102,690,963 (GRCm39) E347K possibly damaging Het
Gse1 A G 8: 121,300,910 (GRCm39) D892G unknown Het
Gtpbp6 A T 5: 110,251,915 (GRCm39) I506N probably benign Het
Hivep1 T A 13: 42,311,668 (GRCm39) F1303I possibly damaging Het
Il21r A G 7: 125,232,077 (GRCm39) T502A probably benign Het
Ints1 T C 5: 139,749,834 (GRCm39) T997A possibly damaging Het
Invs C A 4: 48,396,381 (GRCm39) N351K probably damaging Het
Iqcm A G 8: 76,489,701 (GRCm39) T390A probably benign Het
Iqcn A G 8: 71,163,425 (GRCm39) N873D possibly damaging Het
Kcnh4 C T 11: 100,632,643 (GRCm39) G948D probably benign Het
Kcnh7 T A 2: 62,566,314 (GRCm39) probably null Het
Lrrc72 A G 12: 36,258,611 (GRCm39) V82A probably damaging Het
Macf1 A T 4: 123,271,943 (GRCm39) L6535Q probably damaging Het
Ncor2 G C 5: 125,109,196 (GRCm39) L585V Het
Nipal2 G C 15: 34,578,904 (GRCm39) Y298* probably null Het
Nipsnap1 C T 11: 4,832,960 (GRCm39) probably benign Het
Or12e1 T A 2: 87,022,476 (GRCm39) C148* probably null Het
Or4x12-ps1 T C 2: 89,916,332 (GRCm39) I158V not run Het
Or51g1 A T 7: 102,633,524 (GRCm39) Y282* probably null Het
Pcdhga4 C T 18: 37,819,873 (GRCm39) T474I probably benign Het
Pdp1 G T 4: 11,960,821 (GRCm39) Q516K possibly damaging Het
Pp2d1 A G 17: 53,822,358 (GRCm39) I236T probably benign Het
Pygm G A 19: 6,438,357 (GRCm39) R278H probably damaging Het
Rb1 A T 14: 73,520,363 (GRCm39) C215* probably null Het
Rgs22 A G 15: 36,015,789 (GRCm39) S1156P possibly damaging Het
Rgs9bp T C 7: 35,284,126 (GRCm39) T174A probably damaging Het
Rnf133 A T 6: 23,649,667 (GRCm39) Y130* probably null Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Serpinb6e A T 13: 34,022,923 (GRCm39) F153L probably benign Het
Slc22a1 A T 17: 12,885,587 (GRCm39) Y200N probably damaging Het
Slc22a22 C A 15: 57,113,107 (GRCm39) M377I probably benign Het
Slc36a4 A G 9: 15,633,452 (GRCm39) probably null Het
Slc39a6 A G 18: 24,734,260 (GRCm39) V143A probably benign Het
Slf2 G A 19: 44,926,863 (GRCm39) probably null Het
Sowaha T C 11: 53,370,485 (GRCm39) K84E probably benign Het
Spef2 T G 15: 9,653,098 (GRCm39) probably null Het
Sphkap A T 1: 83,254,399 (GRCm39) F1117I probably damaging Het
Tas2r113 T C 6: 132,870,539 (GRCm39) I189T possibly damaging Het
Tescl T C 7: 24,033,247 (GRCm39) E26G possibly damaging Het
Trpm6 A T 19: 18,854,150 (GRCm39) I1847F probably damaging Het
Uba1y T A Y: 822,200 (GRCm39) C178S possibly damaging Het
Ush2a T A 1: 188,175,526 (GRCm39) V1208D possibly damaging Het
Usp13 G C 3: 32,949,000 (GRCm39) A446P probably damaging Het
Usp7 A T 16: 8,514,588 (GRCm39) C722S possibly damaging Het
Vmn1r52 A G 6: 90,156,535 (GRCm39) S280G probably benign Het
Vmn2r84 T C 10: 130,225,077 (GRCm39) K478E probably damaging Het
Zfp112 C A 7: 23,824,952 (GRCm39) L311I probably benign Het
Zfp180 G T 7: 23,805,125 (GRCm39) E515* probably null Het
Zfp518b A G 5: 38,829,671 (GRCm39) I778T probably damaging Het
Zfp800 A T 6: 28,243,662 (GRCm39) H434Q 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
R5461:Pik3c2b UTSW 1 133,027,440 (GRCm39) missense possibly damaging 0.66
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
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'- CAAGGCTCTAACCTCTTTTGCAG -3'
(R):5'- CAACATCCTGGAGCCTGATCTC -3'

Sequencing Primer
(F):5'- GATCGGCTCCCTCTCAGATG -3'
(R):5'- TGGAGCCTGATCTCGTAGCTC -3'
Posted On 2019-06-26