Incidental Mutation 'R5071:Pik3c2g'
ID 388768
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 042661-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5071 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139665873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 65 (C65S)
Ref Sequence ENSEMBL: ENSMUSP00000107499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111868]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000111868
AA Change: C65S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: C65S

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI182371 A T 2: 34,975,227 (GRCm39) I334N probably benign Het
Aldh1b1 A G 4: 45,803,383 (GRCm39) probably null Het
Armc9 G A 1: 86,113,838 (GRCm39) M298I probably benign Het
Atp8a1 T A 5: 67,973,066 (GRCm39) K27N probably benign Het
BC004004 G A 17: 29,513,389 (GRCm39) probably null Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh17 G T 4: 11,810,325 (GRCm39) G672V probably damaging Het
Cdh5 C A 8: 104,867,334 (GRCm39) T537K probably damaging Het
Chd1 T A 17: 15,982,667 (GRCm39) S1377R probably benign Het
Chd2 T C 7: 73,079,437 (GRCm39) N1821S probably benign Het
Cnot3 A G 7: 3,653,860 (GRCm39) K4R probably damaging Het
Colq T A 14: 31,250,789 (GRCm39) I339F possibly damaging Het
Coq2 A T 5: 100,815,816 (GRCm39) L121Q probably damaging Het
Csnk1e G A 15: 79,305,072 (GRCm39) R342* probably null Het
Cstl1 A T 2: 148,592,847 (GRCm39) M1L probably benign Het
Cwh43 A G 5: 73,581,256 (GRCm39) probably null Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Dgkh T C 14: 78,841,972 (GRCm39) K417E probably damaging Het
Dnah11 A T 12: 118,046,188 (GRCm39) L1750* probably null Het
Edn1 A G 13: 42,457,153 (GRCm39) E62G probably damaging Het
Eef1akmt1 A G 14: 57,803,464 (GRCm39) L30P probably damaging Het
Fbxo42 T C 4: 140,926,256 (GRCm39) W313R probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Fitm1 T A 14: 55,813,230 (GRCm39) V31E possibly damaging Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gabrd A C 4: 155,471,619 (GRCm39) F228C probably damaging Het
Gm5916 A C 9: 36,039,964 (GRCm39) L8R probably benign Het
Gpr108 A G 17: 57,542,335 (GRCm39) S557P probably damaging Het
Gpr75 C A 11: 30,842,380 (GRCm39) N428K probably damaging Het
H2-M5 T G 17: 37,298,076 (GRCm39) probably null Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Homo
Homer3 T C 8: 70,744,005 (GRCm39) V243A probably benign Het
Hspg2 T C 4: 137,267,541 (GRCm39) S2050P probably damaging Het
Hydin A G 8: 111,265,105 (GRCm39) N2763D probably benign Het
Ifi203 T C 1: 173,762,676 (GRCm39) Q152R possibly damaging Het
Ifi44 T C 3: 151,455,269 (GRCm39) probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Ighv1-24 A G 12: 114,736,748 (GRCm39) Y51H probably benign Het
Inf2 A T 12: 112,578,473 (GRCm39) probably null Het
Insl6 T C 19: 29,302,655 (GRCm39) R21G probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Ltbp3 T C 19: 5,806,851 (GRCm39) C1043R probably damaging Het
Mpeg1 T A 19: 12,438,545 (GRCm39) M1K probably null Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Muc21 G A 17: 35,931,444 (GRCm39) probably benign Het
Ncald A T 15: 37,397,478 (GRCm39) H67Q probably damaging Het
Nek9 C A 12: 85,374,233 (GRCm39) R268L possibly damaging Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or2l5 A G 16: 19,333,777 (GRCm39) I203T probably benign Het
Or4c100 T C 2: 88,356,385 (GRCm39) S153P probably damaging Het
Or51l14 A T 7: 103,100,617 (GRCm39) E24D probably benign Het
Or52n2c A C 7: 104,574,700 (GRCm39) N90K probably benign Het
Or6x1 T C 9: 40,098,960 (GRCm39) L183S probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Plagl1 A G 10: 13,003,005 (GRCm39) Y91C probably damaging Het
Polr1a A G 6: 71,908,693 (GRCm39) N506S possibly damaging Het
Pomt2 A C 12: 87,180,234 (GRCm39) C256G probably damaging Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Ptprf C A 4: 118,069,196 (GRCm39) G1624W probably damaging Het
Rbm38 C T 2: 172,863,875 (GRCm39) P15S probably benign Het
Rc3h1 A G 1: 160,787,047 (GRCm39) D814G possibly damaging Het
Rnf40 T C 7: 127,196,458 (GRCm39) L802P probably damaging Het
Rusc2 A G 4: 43,415,240 (GRCm39) D182G probably benign Het
Setd1b A G 5: 123,298,977 (GRCm39) probably benign Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Smarcc2 A G 10: 128,299,809 (GRCm39) D158G probably damaging Het
Sptbn1 A G 11: 30,063,854 (GRCm39) probably null Het
St3gal5 T C 6: 72,109,037 (GRCm39) C42R probably damaging Het
Syt7 T C 19: 10,420,792 (GRCm39) S397P possibly damaging Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Thada T A 17: 84,693,960 (GRCm39) D1263V probably damaging Het
Tmco3 G T 8: 13,342,860 (GRCm39) E199* probably null Het
Tpcn1 A T 5: 120,686,334 (GRCm39) probably null Het
Tppp2 G A 14: 52,157,912 (GRCm39) R119Q probably benign Het
Trim30d A C 7: 104,137,165 (GRCm39) V13G probably damaging Het
Ubxn2b A T 4: 6,214,746 (GRCm39) Q260L probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Usp5 A G 6: 124,803,342 (GRCm39) F7L probably benign Het
Utrn A T 10: 12,259,948 (GRCm39) probably null Het
Vmn1r28 A T 6: 58,242,894 (GRCm39) I246F probably benign Het
Vmn2r2 C A 3: 64,024,321 (GRCm39) M753I probably benign Het
Zbtb26 T C 2: 37,325,941 (GRCm39) H365R probably benign Het
Zfp976 A T 7: 42,262,354 (GRCm39) Y494* 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
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'- GATGGCTTATGAGAAATACGACCC -3'
(R):5'- AATGAGCCACAGTCTGTAGTC -3'

Sequencing Primer
(F):5'- GGCTTATGAGAAATACGACCCTTCAC -3'
(R):5'- TGGTGAAAGGAAAATTAATACTCACC -3'
Posted On 2016-06-06