Incidental Mutation 'R5580:Pik3c2g'
ID 438385
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 043134-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5580 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139603531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 239 (Q239L)
Ref Sequence ENSEMBL: ENSMUSP00000140368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032353] [ENSMUST00000185968] [ENSMUST00000187618] [ENSMUST00000188066] [ENSMUST00000190962]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032353
AA Change: Q239L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032353
Gene: ENSMUSG00000030228
AA Change: Q239L

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000185968
AA Change: Q239L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140368
Gene: ENSMUSG00000030228
AA Change: Q239L

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 371 2e-42 SMART
Blast:PI3K_rbd 272 371 2e-64 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186585
Predicted Effect possibly damaging
Transcript: ENSMUST00000187618
AA Change: Q239L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141025
Gene: ENSMUSG00000030228
AA Change: Q239L

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000188066
Predicted Effect possibly damaging
Transcript: ENSMUST00000190962
AA Change: Q239L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141141
Gene: ENSMUSG00000030228
AA Change: Q239L

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik A G 7: 43,900,664 (GRCm39) T73A possibly damaging Het
A1bg A T 15: 60,790,881 (GRCm39) V365E probably benign Het
Abcg5 A C 17: 84,967,582 (GRCm39) V406G probably damaging Het
Adamts12 A G 15: 11,152,086 (GRCm39) Y192C probably benign Het
Add3 C T 19: 53,233,642 (GRCm39) S649L probably damaging Het
Adgrg6 A T 10: 14,286,228 (GRCm39) C1129* probably null Het
Arsb T A 13: 93,944,053 (GRCm39) V248D probably damaging Het
AW554918 A T 18: 25,472,922 (GRCm39) N39I probably damaging Het
Cacna1b A T 2: 24,540,566 (GRCm39) I1383N probably damaging Het
Caprin2 A T 6: 148,760,232 (GRCm39) V625D possibly damaging Het
Cd9 A G 6: 125,441,420 (GRCm39) L67P probably damaging Het
Cdh5 T A 8: 104,852,126 (GRCm39) Y80* probably null Het
Csf2ra A G 19: 61,214,655 (GRCm39) L223P probably damaging Het
Cyp2c67 T C 19: 39,604,094 (GRCm39) K421E probably damaging Het
Dzank1 T C 2: 144,348,098 (GRCm39) R223G probably damaging Het
Emilin2 A G 17: 71,582,225 (GRCm39) V167A probably benign Het
Eps8l3 A G 3: 107,788,919 (GRCm39) T81A probably damaging Het
Esrra T C 19: 6,897,755 (GRCm39) M1V probably null Het
Evpl C A 11: 116,125,058 (GRCm39) A135S probably benign Het
Fam193a A G 5: 34,578,132 (GRCm39) I209V probably benign Het
Fbxl19 C A 7: 127,350,168 (GRCm39) C253* probably null Het
Fer1l5 T A 1: 36,424,539 (GRCm39) Y305* probably null Het
Fzd2 A C 11: 102,496,665 (GRCm39) I370L probably damaging Het
Gnl3 T C 14: 30,737,242 (GRCm39) K212R probably benign Het
Golm1 A G 13: 59,790,179 (GRCm39) L207P probably benign Het
Gphn T A 12: 78,538,818 (GRCm39) F155I probably damaging Het
Grhl1 G A 12: 24,659,739 (GRCm39) G500S probably benign Het
Gucd1 C A 10: 75,346,968 (GRCm39) G55V possibly damaging Het
Haus6 A T 4: 86,517,503 (GRCm39) I287K possibly damaging Het
Hmcn1 G A 1: 150,453,290 (GRCm39) P5342S probably benign Het
Hspa12a A G 19: 58,788,092 (GRCm39) S577P probably benign Het
Ido2 T A 8: 25,040,882 (GRCm39) I113F possibly damaging Het
Ifrd2 C T 9: 107,469,511 (GRCm39) P396S probably damaging Het
Igkv4-86 T A 6: 68,887,990 (GRCm39) probably benign Het
Ipo11 A G 13: 107,037,255 (GRCm39) V196A probably benign Het
Itih2 T C 2: 10,128,287 (GRCm39) E138G probably damaging Het
Kidins220 T G 12: 25,097,896 (GRCm39) C1179G probably benign Het
Kif20b T A 19: 34,927,128 (GRCm39) probably null Het
Klk1 T A 7: 43,878,238 (GRCm39) Y63N probably benign Het
L3mbtl3 T G 10: 26,179,604 (GRCm39) D517A unknown Het
Lars1 G T 18: 42,347,916 (GRCm39) P969H probably damaging Het
Lrp1 C T 10: 127,424,389 (GRCm39) V766I probably benign Het
Lrrc8c A G 5: 105,755,553 (GRCm39) I443V probably benign Het
Lsg1 T C 16: 30,387,985 (GRCm39) M439V probably null Het
Magi2 T A 5: 20,420,422 (GRCm39) M286K probably benign Het
Med11 T C 11: 70,342,891 (GRCm39) probably null Het
Med13l A G 5: 118,889,695 (GRCm39) K1819E possibly damaging Het
Ms4a14 T A 19: 11,280,590 (GRCm39) Q656L probably benign Het
Muc5b A G 7: 141,415,084 (GRCm39) T2677A possibly damaging Het
Myo7a A T 7: 97,722,367 (GRCm39) L1186H probably damaging Het
Naca C A 10: 127,876,462 (GRCm39) probably benign Het
Nbeal1 T C 1: 60,281,761 (GRCm39) I828T probably benign Het
Ncor1 A T 11: 62,280,604 (GRCm39) C75* probably null Het
Nepn A C 10: 52,280,398 (GRCm39) S497R probably damaging Het
Nf2 A G 11: 4,753,689 (GRCm39) F222L probably damaging Het
Nlrp9b A C 7: 19,757,089 (GRCm39) T109P probably damaging Het
Nr1h4 A T 10: 89,352,302 (GRCm39) F22I probably benign Het
Ogg1 A G 6: 113,306,337 (GRCm39) Y178C probably damaging Het
Or1e22 G T 11: 73,377,036 (GRCm39) P205T probably benign Het
Or4b12 C A 2: 90,096,694 (GRCm39) V27L probably benign Het
Or5b119 T A 19: 13,456,791 (GRCm39) Y257F probably damaging Het
Or5b21 G A 19: 12,839,168 (GRCm39) V10M possibly damaging Het
Or5d14 A T 2: 87,880,668 (GRCm39) M100K possibly damaging Het
Osr1 G A 12: 9,629,325 (GRCm39) R66Q probably damaging Het
Pi4ka A G 16: 17,098,951 (GRCm39) S1978P probably damaging Het
Pin1rt1 A G 2: 104,544,670 (GRCm39) I154T probably damaging Het
Pkdcc A G 17: 83,527,511 (GRCm39) T230A probably damaging Het
Por A T 5: 135,762,675 (GRCm39) I430F probably damaging Het
Prb1c T C 6: 132,338,432 (GRCm39) N262S unknown Het
Prkcsh T A 9: 21,922,551 (GRCm39) probably null Het
Pros1 A G 16: 62,746,689 (GRCm39) probably null Het
Pus10 T A 11: 23,622,556 (GRCm39) L59I probably benign Het
Pxmp2 A G 5: 110,431,542 (GRCm39) V67A possibly damaging Het
Rab3gap1 C A 1: 127,858,727 (GRCm39) A612E probably benign Het
Rpap2 A G 5: 107,768,011 (GRCm39) E206G probably benign Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Ryr3 C T 2: 112,672,293 (GRCm39) G1393R probably damaging Het
Scara5 T C 14: 65,968,528 (GRCm39) M267T probably benign Het
Sema5a A T 15: 32,575,031 (GRCm39) I380F probably benign Het
Slc36a3 A G 11: 55,026,279 (GRCm39) S180P probably benign Het
Slc44a5 A G 3: 153,966,922 (GRCm39) K536R probably benign Het
Smg1 T C 7: 117,748,125 (GRCm39) probably benign Het
Spata31d1e A T 13: 59,890,070 (GRCm39) D583E probably benign Het
Strc T C 2: 121,205,493 (GRCm39) K879R probably damaging Het
Swt1 T C 1: 151,260,206 (GRCm39) E731G probably benign Het
Syngap1 G A 17: 27,181,305 (GRCm39) A9T probably damaging Het
Tex15 C T 8: 34,062,457 (GRCm39) T903I probably damaging Het
Tg A G 15: 66,557,149 (GRCm39) I937V possibly damaging Het
Tm9sf4 T C 2: 153,024,350 (GRCm39) Y58H probably damaging Het
Tsen2 A T 6: 115,554,941 (GRCm39) D458V probably damaging Het
Ttn T A 2: 76,748,146 (GRCm39) D4301V probably benign Het
Txk C A 5: 72,864,932 (GRCm39) L314F probably damaging Het
Ube3b A G 5: 114,553,384 (GRCm39) T919A probably benign Het
Ubn2 A G 6: 38,460,187 (GRCm39) M641V probably damaging Het
Usp4 C T 9: 108,243,058 (GRCm39) T242I probably benign Het
Usp53 A G 3: 122,727,883 (GRCm39) S900P probably benign Het
Vmn1r225 T C 17: 20,723,101 (GRCm39) Y181H probably damaging Het
Vmn1r83 T A 7: 12,055,800 (GRCm39) I86L probably benign Het
Vmn2r65 T C 7: 84,596,802 (GRCm39) I84M probably damaging Het
Vstm2b A G 7: 40,552,050 (GRCm39) H126R probably damaging Het
Zfp524 A T 7: 5,021,416 (GRCm39) I315F probably benign Het
Zfp975 A T 7: 42,314,513 (GRCm39) L20* probably null 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
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'- CAGATGCATACATTCCTGAAGAC -3'
(R):5'- AGCCAGCAAGGTGATCAATG -3'

Sequencing Primer
(F):5'- TGCATACATTCCTGAAGACTAAAATC -3'
(R):5'- CCAGCAAGGTGATCAATGATAGCTTG -3'
Posted On 2016-10-26