Incidental Mutation 'R1897:Pik3c2b'
ID 212022
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 039917-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R1897 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 132973410-133036429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132994654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 206 (D206G)
Ref Sequence ENSEMBL: ENSMUSP00000115469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077730] [ENSMUST00000153707]
AlphaFold E9QAN8
Predicted Effect probably benign
Transcript: ENSMUST00000077730
AA Change: D206G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: D206G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145153
Predicted Effect possibly damaging
Transcript: ENSMUST00000153707
AA Change: D206G

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115469
Gene: ENSMUSG00000026447
AA Change: D206G

DomainStartEndE-ValueType
low complexity region 155 160 N/A INTRINSIC
low complexity region 168 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186515
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
Validation Efficiency 99% (72/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 A G 1: 155,434,564 (GRCm39) S61G probably damaging Het
Acot12 A G 13: 91,932,516 (GRCm39) N504S probably benign Het
Adcy3 C T 12: 4,223,450 (GRCm39) probably benign Het
Adcyap1r1 A T 6: 55,456,179 (GRCm39) H168L probably damaging Het
Adgrd1 A G 5: 129,206,065 (GRCm39) E213G probably benign Het
Aldh1l2 G T 10: 83,338,389 (GRCm39) T510K probably damaging Het
Apol7e A T 15: 77,602,094 (GRCm39) M231L probably benign Het
Asb1 C A 1: 91,474,647 (GRCm39) probably null Het
Atf7ip2 C T 16: 10,028,948 (GRCm39) P160L probably damaging Het
Atp8a1 A G 5: 67,895,772 (GRCm39) L554P probably damaging Het
Ccdc18 A T 5: 108,343,908 (GRCm39) M884L probably benign Het
Ccdc93 A G 1: 121,418,941 (GRCm39) I499V probably benign Het
Ccl20 A G 1: 83,095,616 (GRCm39) D60G probably damaging Het
Cdhr3 T C 12: 33,095,192 (GRCm39) T626A possibly damaging Het
Cep250 A G 2: 155,818,015 (GRCm39) E789G probably damaging Het
Cmpk2 T C 12: 26,524,046 (GRCm39) L281P probably damaging Het
Col6a6 A T 9: 105,662,943 (GRCm39) M198K possibly damaging Het
Crocc G A 4: 140,746,047 (GRCm39) R1691C probably damaging Het
Csf1 C T 3: 107,655,595 (GRCm39) V90M probably damaging Het
Cul2 T G 18: 3,414,164 (GRCm39) M86R probably benign Het
Dbndd2 T C 2: 164,330,584 (GRCm39) F79S probably damaging Het
Dkk1 G T 19: 30,526,678 (GRCm39) N34K possibly damaging Het
Dnah6 T A 6: 73,158,745 (GRCm39) L619F probably benign Het
Eif2b5 T C 16: 20,325,787 (GRCm39) V588A probably damaging Het
Elf3 A T 1: 135,184,875 (GRCm39) Y104N probably damaging Het
Fahd2a T C 2: 127,278,530 (GRCm39) D272G probably damaging Het
Fbxw15 A T 9: 109,387,271 (GRCm39) C188* probably null Het
Fbxw8 T C 5: 118,266,941 (GRCm39) Y174C probably benign Het
Gnl1 C A 17: 36,299,584 (GRCm39) P585Q possibly damaging Het
Greb1l T C 18: 10,498,992 (GRCm39) S292P probably benign Het
Gsk3b G A 16: 38,037,446 (GRCm39) probably null Het
Hcls1 C T 16: 36,783,005 (GRCm39) P452L probably damaging Het
Hdlbp A T 1: 93,350,007 (GRCm39) probably benign Het
Hecw1 A G 13: 14,552,525 (GRCm39) S25P probably damaging Het
Hells T C 19: 38,928,928 (GRCm39) V100A probably benign Het
Isl1 C T 13: 116,439,866 (GRCm39) E161K probably benign Het
Klra9 G T 6: 130,162,555 (GRCm39) N160K possibly damaging Het
Lama4 T C 10: 38,936,182 (GRCm39) V619A probably damaging Het
Mpc1 G A 17: 8,515,710 (GRCm39) R134Q possibly damaging Het
Myo5c A T 9: 75,199,523 (GRCm39) N1377I probably benign Het
Myrf T C 19: 10,195,596 (GRCm39) I607V probably benign Het
Or2g1 T G 17: 38,107,075 (GRCm39) S247A probably benign Het
Or8g53 A T 9: 39,683,361 (GRCm39) I245K probably damaging Het
Pipox A G 11: 77,773,568 (GRCm39) Y228H probably damaging Het
Pitrm1 T A 13: 6,610,131 (GRCm39) V401D possibly damaging Het
Plod1 C T 4: 148,010,657 (GRCm39) E265K probably damaging Het
Ptpn21 A T 12: 98,646,664 (GRCm39) probably null Het
Qars1 C T 9: 108,391,282 (GRCm39) Q7* probably null Het
Rpap2 T A 5: 107,780,961 (GRCm39) V479E possibly damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Rusc2 A G 4: 43,421,749 (GRCm39) Y723C probably damaging Het
Ryr2 A T 13: 11,765,818 (GRCm39) M1306K probably benign Het
Sesn3 A C 9: 14,219,941 (GRCm39) Y110S probably damaging Het
Sgce C T 6: 4,691,511 (GRCm39) V319I probably benign Het
Slc15a5 G T 6: 138,056,762 (GRCm39) F51L possibly damaging Het
Slit2 T A 5: 48,395,765 (GRCm39) C723S probably damaging Het
Sncaip A G 18: 53,027,862 (GRCm39) probably null Het
Snx2 T A 18: 53,330,950 (GRCm39) D138E probably damaging Het
Spef2 A T 15: 9,729,740 (GRCm39) L126* probably null Het
Stam T C 2: 14,133,837 (GRCm39) S195P probably damaging Het
Strn T C 17: 78,990,271 (GRCm39) I82V probably benign Het
Synj2 T A 17: 6,072,412 (GRCm39) C202* probably null Het
Tecpr2 A G 12: 110,899,681 (GRCm39) D683G probably benign Het
Tfec A G 6: 16,835,307 (GRCm39) V157A probably damaging Het
Tff1 T G 17: 31,383,912 (GRCm39) Q28P probably benign Het
Vmn2r86 A G 10: 130,288,314 (GRCm39) Y396H probably damaging Het
Vmn2r87 A T 10: 130,307,829 (GRCm39) M803K probably damaging Het
Vmn2r90 A G 17: 17,953,566 (GRCm39) K577E probably damaging Het
Vrk1 T C 12: 106,002,799 (GRCm39) probably benign Het
Wdr20 A G 12: 110,760,157 (GRCm39) T348A 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
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
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'- GAGATGCTCTTTGTCTCCAGG -3'
(R):5'- AGGTGTCCTTGTTGAAGTCC -3'

Sequencing Primer
(F):5'- TGACACAGATGGCTCTTGC -3'
(R):5'- CCTTGTTGAAGTCCAGGGGC -3'
Posted On 2014-06-30