Incidental Mutation 'R8809:Pik3c2g'
ID 672268
Institutional Source Beutler Lab
Gene Symbol Pik3c2g
Ensembl Gene ENSMUSG00000030228
Gene Name phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
Synonyms
MMRRC Submission 068645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R8809 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139714436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 196 (R196H)
Ref Sequence ENSEMBL: ENSMUSP00000151281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111868] [ENSMUST00000218528]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: R314H

DomainStartEndE-ValueType
SCOP:d1e8xa2 1 83 4e-16 SMART
PI3Ka 103 288 7.6e-29 SMART
PI3Kc 375 637 2.11e-109 SMART
PX 661 765 1.24e-21 SMART
C2 800 897 1.34e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191013
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (63/65)
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. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allelel exhibit reduced liver glucogen accumulation, hyperlipidemia, adiposity and insulin resistance with age or after consumption of a high-fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 C T 10: 89,550,841 (GRCm39) V318I probably benign Het
Adam29 A G 8: 56,325,659 (GRCm39) I265T probably benign Het
Ankdd1a A T 9: 65,415,422 (GRCm39) probably benign Het
Arcn1 T C 9: 44,655,259 (GRCm39) T501A possibly damaging Het
B3gntl1 A T 11: 121,521,690 (GRCm39) F166I possibly damaging Het
Brap T C 5: 121,822,524 (GRCm39) S467P possibly damaging Het
Cenpb A G 2: 131,020,322 (GRCm39) V492A unknown Het
Ces1b C A 8: 93,786,948 (GRCm39) G477V probably damaging Het
Ces1b C T 8: 93,786,949 (GRCm39) G477R probably damaging Het
Cfap65 T C 1: 74,942,382 (GRCm39) K1724R probably benign Het
Chrd A T 16: 20,553,270 (GRCm39) Q182L probably benign Het
Chrnb2 T C 3: 89,664,457 (GRCm39) T486A probably benign Het
Col25a1 A T 3: 130,354,466 (GRCm39) probably null Het
Col4a1 A G 8: 11,295,916 (GRCm39) Y101H unknown Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Ctnnal1 T A 4: 56,835,374 (GRCm39) N301I possibly damaging Het
Cyp2f2 A T 7: 26,831,995 (GRCm39) N417Y probably damaging Het
Dnah6 T A 6: 73,009,546 (GRCm39) E3800D possibly damaging Het
Dync2i1 A G 12: 116,193,234 (GRCm39) S573P probably damaging Het
Ehmt2 C A 17: 35,127,489 (GRCm39) T906K probably damaging Het
Fbxo15 A G 18: 84,978,200 (GRCm39) H183R possibly damaging Het
Fgl1 T A 8: 41,650,368 (GRCm39) K194* probably null Het
Fxr1 G A 3: 34,108,430 (GRCm39) V314I possibly damaging Het
Hrnr A G 3: 93,239,443 (GRCm39) Q3227R unknown Het
Ier5 G A 1: 154,974,716 (GRCm39) A154V probably benign Het
Igkc T G 6: 70,703,502 (GRCm39) L28V Het
Kcnh1 G A 1: 191,903,722 (GRCm39) G54D probably damaging Het
Kcnn1 C T 8: 71,305,297 (GRCm39) probably null Het
Kifbp C T 10: 62,395,491 (GRCm39) D384N possibly damaging Het
Klra2 T A 6: 131,197,198 (GRCm39) N234I possibly damaging Het
Krtap4-9 T C 11: 99,676,454 (GRCm39) I125T unknown Het
Lrig2 T C 3: 104,368,993 (GRCm39) T897A probably benign Het
Lyve1 G T 7: 110,452,999 (GRCm39) T199K probably damaging Het
Myorg T C 4: 41,498,812 (GRCm39) T273A probably benign Het
Napa A G 7: 15,846,551 (GRCm39) D113G possibly damaging Het
Neurog1 GGTG GGTGTG 13: 56,399,098 (GRCm39) probably null Het
Nf1 T A 11: 79,437,964 (GRCm39) H91Q probably damaging Het
Or4c11c T C 2: 88,662,256 (GRCm39) M265T probably benign Het
Or4n4 A G 14: 50,519,236 (GRCm39) I158T probably benign Het
Or52e3 A T 7: 102,869,446 (GRCm39) N174Y probably benign Het
Or5k16 T A 16: 58,736,248 (GRCm39) Y252F probably damaging Het
Or7g16 A G 9: 18,726,919 (GRCm39) S224P probably damaging Het
Pccb A T 9: 100,867,220 (GRCm39) Y455* probably null Het
Pdk2 A T 11: 94,923,339 (GRCm39) I95N probably damaging Het
Pkd1l2 A G 8: 117,726,660 (GRCm39) L2282P probably damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Prdm1 A T 10: 44,315,749 (GRCm39) S796T probably benign Het
Rb1 A G 14: 73,503,000 (GRCm39) F424L probably damaging Het
Retreg3 A G 11: 100,992,852 (GRCm39) L190P probably damaging Het
Rffl A G 11: 82,700,864 (GRCm39) Y321H probably damaging Het
Rlbp1 A G 7: 79,025,704 (GRCm39) Y246H probably damaging Het
Rock2 T A 12: 17,015,655 (GRCm39) probably benign Het
Slc17a3 C A 13: 24,039,575 (GRCm39) C244* probably null Het
Snapc1 T C 12: 74,021,812 (GRCm39) S304P probably benign Het
Sp9 T C 2: 73,104,019 (GRCm39) L191P probably damaging Het
Spag17 A T 3: 99,889,738 (GRCm39) E202D probably benign Het
Ss18 A G 18: 14,760,344 (GRCm39) *419R probably null Het
Tacc2 A G 7: 130,276,421 (GRCm39) E1824G possibly damaging Het
Tacc3 T A 5: 33,824,029 (GRCm39) probably benign Het
Tfap2a A T 13: 40,870,829 (GRCm39) L353Q probably damaging Het
Ugt3a1 A G 15: 9,367,345 (GRCm39) I363V possibly damaging Het
Vmn1r158 A G 7: 22,489,775 (GRCm39) C145R probably damaging Het
Vmn1r23 A T 6: 57,903,352 (GRCm39) I142K probably damaging Het
Vmn2r15 A T 5: 109,434,874 (GRCm39) I610N probably benign Het
Yy1 CGGCGACCACGGCGGCGGCGGGGGCG CGGCG 12: 108,759,506 (GRCm39) probably benign Het
Zbtb7c T C 18: 76,270,190 (GRCm39) Y93H probably damaging Het
Zfp62 A G 11: 49,107,238 (GRCm39) N443S probably damaging Het
Other mutations in Pik3c2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Pik3c2g APN 6 139,841,851 (GRCm39) missense probably damaging 1.00
IGL01355:Pik3c2g APN 6 139,798,583 (GRCm39) missense probably damaging 0.98
IGL01579:Pik3c2g APN 6 139,700,467 (GRCm39) nonsense probably null
IGL01580:Pik3c2g APN 6 139,599,514 (GRCm39) missense probably damaging 0.99
IGL01587:Pik3c2g APN 6 139,700,467 (GRCm39) nonsense probably null
IGL01813:Pik3c2g APN 6 139,599,407 (GRCm39) missense possibly damaging 0.55
IGL02218:Pik3c2g APN 6 139,806,081 (GRCm39) missense probably damaging 1.00
IGL02479:Pik3c2g APN 6 139,863,730 (GRCm39) missense probably benign 0.40
IGL02480:Pik3c2g APN 6 139,798,526 (GRCm39) missense probably damaging 1.00
IGL02721:Pik3c2g APN 6 139,682,699 (GRCm39) missense probably benign 0.15
IGL02967:Pik3c2g APN 6 139,913,554 (GRCm39) missense probably damaging 0.98
IGL03221:Pik3c2g APN 6 139,718,133 (GRCm39) critical splice acceptor site probably null
FR4304:Pik3c2g UTSW 6 139,612,654 (GRCm39) frame shift probably null
FR4340:Pik3c2g UTSW 6 139,612,654 (GRCm39) frame shift probably null
FR4976:Pik3c2g UTSW 6 139,612,652 (GRCm39) frame shift probably null
IGL02837:Pik3c2g UTSW 6 139,603,562 (GRCm39) nonsense probably null
PIT4531001:Pik3c2g UTSW 6 139,805,096 (GRCm39) missense
R0002:Pik3c2g UTSW 6 139,714,471 (GRCm39) missense probably benign 0.08
R0081:Pik3c2g UTSW 6 139,903,519 (GRCm39) missense probably benign 0.05
R0098:Pik3c2g UTSW 6 139,639,441 (GRCm39) missense unknown
R0719:Pik3c2g UTSW 6 139,606,723 (GRCm39) missense probably damaging 1.00
R0740:Pik3c2g UTSW 6 139,610,791 (GRCm39) critical splice donor site probably null
R0837:Pik3c2g UTSW 6 139,903,425 (GRCm39) splice site probably benign
R0840:Pik3c2g UTSW 6 139,841,798 (GRCm39) missense probably damaging 1.00
R1306:Pik3c2g UTSW 6 139,718,154 (GRCm39) missense probably benign
R1501:Pik3c2g UTSW 6 139,789,796 (GRCm39) critical splice donor site probably null
R1591:Pik3c2g UTSW 6 139,693,904 (GRCm39) missense probably benign 0.00
R1666:Pik3c2g UTSW 6 139,612,634 (GRCm39) intron probably benign
R1907:Pik3c2g UTSW 6 139,789,768 (GRCm39) missense probably damaging 1.00
R1970:Pik3c2g UTSW 6 139,846,112 (GRCm39) critical splice donor site probably null
R1982:Pik3c2g UTSW 6 139,599,546 (GRCm39) missense probably damaging 0.97
R2171:Pik3c2g UTSW 6 139,801,012 (GRCm39) nonsense probably null
R2188:Pik3c2g UTSW 6 139,798,600 (GRCm39) missense probably damaging 1.00
R3777:Pik3c2g UTSW 6 139,599,385 (GRCm39) missense probably damaging 1.00
R3778:Pik3c2g UTSW 6 139,599,385 (GRCm39) missense probably damaging 1.00
R3965:Pik3c2g UTSW 6 139,801,018 (GRCm39) missense possibly damaging 0.90
R4076:Pik3c2g UTSW 6 139,798,589 (GRCm39) missense probably damaging 1.00
R4078:Pik3c2g UTSW 6 139,612,608 (GRCm39) intron probably benign
R4108:Pik3c2g UTSW 6 139,676,096 (GRCm39) missense probably benign 0.00
R4461:Pik3c2g UTSW 6 139,787,407 (GRCm39) intron probably benign
R4474:Pik3c2g UTSW 6 139,610,749 (GRCm39) missense probably damaging 0.99
R4509:Pik3c2g UTSW 6 139,665,732 (GRCm39) missense probably benign 0.25
R4646:Pik3c2g UTSW 6 139,665,744 (GRCm39) missense probably benign 0.05
R4732:Pik3c2g UTSW 6 139,881,711 (GRCm39) missense probably benign 0.28
R4733:Pik3c2g UTSW 6 139,881,711 (GRCm39) missense probably benign 0.28
R4854:Pik3c2g UTSW 6 139,714,505 (GRCm39) missense probably damaging 1.00
R4928:Pik3c2g UTSW 6 139,913,528 (GRCm39) missense possibly damaging 0.88
R4959:Pik3c2g UTSW 6 139,789,657 (GRCm39) missense possibly damaging 0.65
R4973:Pik3c2g UTSW 6 139,789,657 (GRCm39) missense possibly damaging 0.65
R5032:Pik3c2g UTSW 6 139,841,928 (GRCm39) missense probably benign 0.00
R5071:Pik3c2g UTSW 6 139,665,873 (GRCm39) missense probably null 0.00
R5072:Pik3c2g UTSW 6 139,665,873 (GRCm39) missense probably null 0.00
R5073:Pik3c2g UTSW 6 139,665,873 (GRCm39) missense probably null 0.00
R5074:Pik3c2g UTSW 6 139,665,873 (GRCm39) missense probably null 0.00
R5107:Pik3c2g UTSW 6 139,612,623 (GRCm39) intron probably benign
R5186:Pik3c2g UTSW 6 139,599,016 (GRCm39) missense probably damaging 1.00
R5253:Pik3c2g UTSW 6 139,841,983 (GRCm39) critical splice donor site probably null
R5359:Pik3c2g UTSW 6 139,599,121 (GRCm39) missense probably damaging 1.00
R5394:Pik3c2g UTSW 6 139,665,808 (GRCm39) missense probably benign
R5417:Pik3c2g UTSW 6 139,682,669 (GRCm39) missense probably benign
R5435:Pik3c2g UTSW 6 139,661,581 (GRCm39) splice site probably null
R5580:Pik3c2g UTSW 6 139,603,531 (GRCm39) missense probably damaging 0.99
R5664:Pik3c2g UTSW 6 139,682,733 (GRCm39) missense probably damaging 0.98
R5908:Pik3c2g UTSW 6 139,714,436 (GRCm39) missense
R5914:Pik3c2g UTSW 6 139,599,477 (GRCm39) missense probably benign 0.00
R6046:Pik3c2g UTSW 6 139,842,518 (GRCm39) missense probably damaging 1.00
R6046:Pik3c2g UTSW 6 139,599,137 (GRCm39) missense probably damaging 0.96
R6298:Pik3c2g UTSW 6 139,603,561 (GRCm39) missense probably damaging 1.00
R6382:Pik3c2g UTSW 6 139,665,724 (GRCm39) missense possibly damaging 0.88
R6480:Pik3c2g UTSW 6 139,676,195 (GRCm39) missense probably benign 0.27
R6917:Pik3c2g UTSW 6 139,841,899 (GRCm39) missense probably benign 0.00
R6929:Pik3c2g UTSW 6 139,903,502 (GRCm39) missense possibly damaging 0.67
R7022:Pik3c2g UTSW 6 139,599,061 (GRCm39) missense possibly damaging 0.82
R7144:Pik3c2g UTSW 6 139,606,868 (GRCm39) missense probably damaging 1.00
R7213:Pik3c2g UTSW 6 139,805,990 (GRCm39) missense
R7215:Pik3c2g UTSW 6 139,700,589 (GRCm39) missense
R7332:Pik3c2g UTSW 6 139,841,981 (GRCm39) missense
R7357:Pik3c2g UTSW 6 139,610,791 (GRCm39) critical splice donor site probably null
R7359:Pik3c2g UTSW 6 139,913,620 (GRCm39) missense unknown
R7385:Pik3c2g UTSW 6 139,801,079 (GRCm39) missense
R7455:Pik3c2g UTSW 6 139,913,643 (GRCm39) missense unknown
R7651:Pik3c2g UTSW 6 139,599,070 (GRCm39) missense possibly damaging 0.85
R7888:Pik3c2g UTSW 6 139,842,470 (GRCm39) missense
R7923:Pik3c2g UTSW 6 139,610,791 (GRCm39) critical splice donor site probably null
R7964:Pik3c2g UTSW 6 139,827,786 (GRCm39) missense
R8005:Pik3c2g UTSW 6 139,599,067 (GRCm39) missense probably benign 0.01
R8371:Pik3c2g UTSW 6 139,881,782 (GRCm39) missense unknown
R8724:Pik3c2g UTSW 6 139,913,619 (GRCm39) missense unknown
R8733:Pik3c2g UTSW 6 139,714,426 (GRCm39) nonsense probably null
R8888:Pik3c2g UTSW 6 139,676,092 (GRCm39) nonsense probably null
R8931:Pik3c2g UTSW 6 139,821,093 (GRCm39) missense probably benign 0.02
R9188:Pik3c2g UTSW 6 139,599,401 (GRCm39) missense possibly damaging 0.94
R9336:Pik3c2g UTSW 6 139,821,161 (GRCm39) missense
R9383:Pik3c2g UTSW 6 139,827,742 (GRCm39) nonsense probably null
R9524:Pik3c2g UTSW 6 139,606,768 (GRCm39) missense probably damaging 0.99
R9531:Pik3c2g UTSW 6 139,841,926 (GRCm39) missense
R9630:Pik3c2g UTSW 6 139,599,237 (GRCm39) missense possibly damaging 0.66
R9697:Pik3c2g UTSW 6 139,913,517 (GRCm39) missense unknown
R9708:Pik3c2g UTSW 6 139,606,865 (GRCm39) missense probably benign
R9717:Pik3c2g UTSW 6 139,841,910 (GRCm39) missense
RF015:Pik3c2g UTSW 6 139,700,497 (GRCm39) missense
RF032:Pik3c2g UTSW 6 139,612,656 (GRCm39) frame shift probably null
X0024:Pik3c2g UTSW 6 139,805,984 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTATGCACTAGAATTTACTCTGTG -3'
(R):5'- GCAGTATAGCAGGTTAGTGATTTC -3'

Sequencing Primer
(F):5'- GGGGCATGTCTCCACCAAATATG -3'
(R):5'- CATGGGCTTGCAGTGGGAAC -3'
Posted On 2021-04-30