Incidental Mutation 'R4973:Pik3c2g'
ID 382380
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 042568-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R4973 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139789657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 385 (Y385H)
Ref Sequence ENSEMBL: ENSMUSP00000107499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087657] [ENSMUST00000111868] [ENSMUST00000218528]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000087657
AA Change: Y17H

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000084939
Gene: ENSMUSG00000030228
AA Change: Y17H

DomainStartEndE-ValueType
PI3Kc 125 387 2.11e-109 SMART
PX 411 515 1.24e-21 SMART
C2 550 647 1.34e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111868
AA Change: Y385H

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: Y385H

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: ENSMUST00000187223
SMART Domains Protein: ENSMUSP00000140589
Gene: ENSMUSG00000030228

DomainStartEndE-ValueType
Pfam:PI3_PI4_kinase 123 226 3.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189374
SMART Domains Protein: ENSMUSP00000139763
Gene: ENSMUSG00000030228

DomainStartEndE-ValueType
PI3Kc 125 387 2.11e-109 SMART
PX 411 515 1.24e-21 SMART
C2 550 647 1.34e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206646
AA Change: Y17H
Predicted Effect probably benign
Transcript: ENSMUST00000218528
AA Change: Y267H

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.2036 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 97% (115/118)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,282,808 (GRCm39) I221K possibly damaging Het
Abhd16a T A 17: 35,321,318 (GRCm39) S498T probably benign Het
Adamts18 G A 8: 114,463,357 (GRCm39) R830* probably null Het
Ankrd27 A G 7: 35,332,417 (GRCm39) D848G probably benign Het
Art3 A G 5: 92,551,478 (GRCm39) Y279C probably damaging Het
Atp2c2 A G 8: 120,481,002 (GRCm39) T797A probably benign Het
Ccdc121rt1 A T 1: 181,338,829 (GRCm39) V41E possibly damaging Het
Ccdc122 A T 14: 77,305,381 (GRCm39) I12F possibly damaging Het
Ccdc154 T C 17: 25,389,888 (GRCm39) L508P probably damaging Het
Cdk5r2 A G 1: 74,894,831 (GRCm39) D192G probably damaging Het
Cgn C T 3: 94,685,564 (GRCm39) A320T probably benign Het
Cklf A G 8: 104,988,184 (GRCm39) K106E probably benign Het
Clec12a C A 6: 129,330,628 (GRCm39) T70K probably benign Het
Clock A G 5: 76,402,258 (GRCm39) V134A possibly damaging Het
CN725425 G A 15: 91,129,904 (GRCm39) A256T possibly damaging Het
Csf1r A T 18: 61,262,119 (GRCm39) I792F probably damaging Het
Csn1s1 T G 5: 87,821,120 (GRCm39) S33A probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
D5Ertd579e A G 5: 36,830,249 (GRCm39) V25A probably benign Het
D630045J12Rik C T 6: 38,125,302 (GRCm39) V1571M possibly damaging Het
Ddx5 C A 11: 106,675,833 (GRCm39) V286L possibly damaging Het
Deup1 G A 9: 15,523,310 (GRCm39) Q58* probably null Het
Dnhd1 T G 7: 105,362,840 (GRCm39) L3801V probably benign Het
Dph2 T A 4: 117,748,527 (GRCm39) D82V probably damaging Het
Ercc6 A G 14: 32,296,859 (GRCm39) D1283G probably damaging Het
Evi5l G T 8: 4,255,406 (GRCm39) V477L probably benign Het
Fam91a1 A G 15: 58,303,059 (GRCm39) T323A probably benign Het
Fanca G A 8: 124,035,261 (GRCm39) T228M probably damaging Het
Fat4 T G 3: 39,037,195 (GRCm39) S3616A probably benign Het
Fbxo16 G T 14: 65,558,746 (GRCm39) A302S probably benign Het
Fkbp5 T C 17: 28,647,343 (GRCm39) E164G probably damaging Het
Fpr-rs3 T C 17: 20,844,211 (GRCm39) Y310C possibly damaging Het
Fsip2 T C 2: 82,815,169 (GRCm39) I3634T probably benign Het
Gm6327 T C 16: 12,578,845 (GRCm39) noncoding transcript Het
Gnl3 A T 14: 30,735,462 (GRCm39) N411K possibly damaging Het
Golga1 A T 2: 38,929,118 (GRCm39) D308E probably damaging Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gsap A T 5: 21,459,037 (GRCm39) T501S probably benign Het
Helq A G 5: 100,940,737 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,234,108 (GRCm39) H291R probably benign Het
Htt A T 5: 34,970,367 (GRCm39) D505V probably damaging Het
Ildr1 C T 16: 36,528,660 (GRCm39) T35I probably benign Het
Iqgap2 A G 13: 95,794,305 (GRCm39) probably null Het
Kansl1 C T 11: 104,315,147 (GRCm39) R297H probably damaging Het
Kat2b-ps T C 5: 93,539,644 (GRCm39) noncoding transcript Het
Kbtbd2 A G 6: 56,758,943 (GRCm39) F60S probably benign Het
Kcnt2 A T 1: 140,537,388 (GRCm39) S1116C probably damaging Het
Krt9 C T 11: 100,079,538 (GRCm39) G618E unknown Het
Lsm5 A T 6: 56,680,309 (GRCm39) D44E probably damaging Het
Mdn1 A G 4: 32,734,418 (GRCm39) D3275G probably benign Het
Mindy2 A T 9: 70,512,453 (GRCm39) V599E possibly damaging Het
Nelfa A G 5: 34,059,162 (GRCm39) V231A probably benign Het
Nepro T C 16: 44,555,156 (GRCm39) Y411H probably benign Het
Nes T A 3: 87,882,983 (GRCm39) L414Q probably damaging Het
Neurl2 T A 2: 164,675,122 (GRCm39) probably null Het
Nkx1-1 G T 5: 33,588,410 (GRCm39) Q293K possibly damaging Het
Nphp3 C T 9: 103,909,198 (GRCm39) H803Y probably benign Het
Obscn A G 11: 59,023,292 (GRCm39) V695A probably damaging Het
Or10v5 A G 19: 11,806,300 (GRCm39) L30P probably benign Het
Or12d15 G A 17: 37,693,910 (GRCm39) A151T probably damaging Het
Or2f1 T C 6: 42,721,621 (GRCm39) S217P probably damaging Het
Or2t48 T C 11: 58,419,903 (GRCm39) E303G probably benign Het
Or4c106 T C 2: 88,682,516 (GRCm39) V74A possibly damaging Het
Or4f17-ps1 T A 2: 111,357,969 (GRCm39) F103L probably damaging Het
Or4p7 T A 2: 88,221,674 (GRCm39) L28I probably benign Het
Or7g35 A G 9: 19,496,504 (GRCm39) T224A probably benign Het
Or8d2b A G 9: 38,789,400 (GRCm39) *309W probably null Het
Orai3 T A 7: 127,373,348 (GRCm39) L283Q probably damaging Het
Pcdhb13 A T 18: 37,576,237 (GRCm39) D205V probably benign Het
Pdlim5 G A 3: 142,017,740 (GRCm39) probably benign Het
Pdzd2 A G 15: 12,375,734 (GRCm39) V1467A probably damaging Het
Pgm3 A G 9: 86,444,732 (GRCm39) S268P probably benign Het
Piezo2 A T 18: 63,207,751 (GRCm39) I1420N probably damaging Het
Pigp C A 16: 94,160,006 (GRCm39) G134V probably benign Het
Pnliprp2 G A 19: 58,754,750 (GRCm39) E265K probably benign Het
Psmd13 T A 7: 140,466,766 (GRCm39) Y117* probably null Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
Pum1 T G 4: 130,396,448 (GRCm39) S68A probably benign Het
Rnf167 T A 11: 70,540,701 (GRCm39) probably benign Het
Rnf213 T C 11: 119,318,983 (GRCm39) V1148A possibly damaging Het
Rnf216 T C 5: 143,076,071 (GRCm39) E271G probably benign Het
Ros1 A T 10: 52,031,087 (GRCm39) I506N probably damaging Het
Rpl37 G A 15: 5,147,128 (GRCm39) R56Q possibly damaging Het
Rpl41 A C 10: 128,384,576 (GRCm39) probably benign Het
Rttn A T 18: 89,060,292 (GRCm39) H998L probably damaging Het
Sacs G T 14: 61,450,571 (GRCm39) A4206S probably damaging Het
Slc22a14 CTTTCCTGAA C 9: 119,003,101 (GRCm39) probably benign Het
Slc36a3 T C 11: 55,037,630 (GRCm39) probably benign Het
Slc39a3 A T 10: 80,866,796 (GRCm39) W317R probably damaging Het
Snd1 C A 6: 28,884,250 (GRCm39) Y766* probably null Het
Snrpd1 T C 18: 10,626,835 (GRCm39) V34A probably benign Het
Spire2 T A 8: 124,083,583 (GRCm39) I189N probably damaging Het
Stard6 A C 18: 70,631,631 (GRCm39) D74A possibly damaging Het
Sufu C T 19: 46,463,991 (GRCm39) T401I possibly damaging Het
Taar7b T A 10: 23,876,243 (GRCm39) F136Y probably benign Het
Taf6 G A 5: 138,181,465 (GRCm39) Q156* probably null Het
Tcp11l2 A G 10: 84,427,027 (GRCm39) I164V probably damaging Het
Tead4 T C 6: 128,247,950 (GRCm39) D29G probably damaging Het
Tns4 G T 11: 98,966,039 (GRCm39) P448Q probably damaging Het
Trappc9 G T 15: 72,808,905 (GRCm39) N540K probably damaging Het
Trbv28 C T 6: 41,248,788 (GRCm39) S106F probably damaging Het
Usp16 T A 16: 87,277,802 (GRCm39) M684K probably damaging Het
Usp45 A T 4: 21,815,372 (GRCm39) T362S probably damaging Het
Vcan A T 13: 89,836,961 (GRCm39) M2861K probably benign Het
Vps8 T C 16: 21,278,536 (GRCm39) S267P probably damaging Het
Wdfy3 C T 5: 102,090,985 (GRCm39) D532N probably benign Het
Zbtb34 T A 2: 33,301,626 (GRCm39) Q305L probably benign Het
Zfp267 C T 3: 36,218,285 (GRCm39) R102C possibly damaging Het
Zfp352 T A 4: 90,112,376 (GRCm39) V172E probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp804b A T 5: 6,821,198 (GRCm39) S622T probably damaging Het
Zswim4 G T 8: 84,938,852 (GRCm39) A1010D probably benign 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
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
R8809:Pik3c2g UTSW 6 139,714,436 (GRCm39) missense
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'- AGCTGCTAAACTGCCCCAAG -3'
(R):5'- CCAGTCATTTGTGTTCCAGTGG -3'

Sequencing Primer
(F):5'- GCCAACACAGAGAGATTCCTC -3'
(R):5'- TCTGAAACAGTTGACTCAAAAAGCAG -3'
Posted On 2016-04-27