Incidental Mutation 'R1907:Pik3c2g'
ID 214461
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 039926-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R1907 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 139789768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 304 (K304Q)
Ref Sequence ENSEMBL: ENSMUSP00000151281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087657] [ENSMUST00000111868] [ENSMUST00000218528]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000087657
AA Change: K54Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084939
Gene: ENSMUSG00000030228
AA Change: K54Q

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 probably damaging
Transcript: ENSMUST00000111868
AA Change: K422Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: K422Q

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: ENSMUST00000206646
AA Change: K54Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191013
Predicted Effect probably damaging
Transcript: ENSMUST00000218528
AA Change: K304Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.1901 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency 98% (104/106)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C A 3: 121,862,661 (GRCm39) S206R probably damaging Het
Abcc6 G T 7: 45,663,593 (GRCm39) A357E probably benign Het
Abhd13 T A 8: 10,038,170 (GRCm39) C256S probably benign Het
Actrt3 A G 3: 30,652,716 (GRCm39) V126A probably damaging Het
Adgrv1 A G 13: 81,740,670 (GRCm39) probably benign Het
Alyref2 A G 1: 171,331,838 (GRCm39) D205G probably damaging Het
Amigo3 G A 9: 107,930,835 (GRCm39) R86Q probably benign Het
Ankrd50 G C 3: 38,508,201 (GRCm39) P1389A probably damaging Het
Aoah A G 13: 21,094,264 (GRCm39) D183G probably damaging Het
Arap3 A T 18: 38,129,724 (GRCm39) S146T probably benign Het
Atp2c2 T C 8: 120,476,615 (GRCm39) probably benign Het
Atp8b2 C T 3: 89,853,583 (GRCm39) V682M probably benign Het
Cacna1i T C 15: 80,259,465 (GRCm39) I1245T probably damaging Het
Card14 A G 11: 119,222,085 (GRCm39) N460S probably benign Het
Ceacam5 A G 7: 17,486,309 (GRCm39) D602G possibly damaging Het
Cecr2 T A 6: 120,738,121 (GRCm39) H921Q probably benign Het
Cyb5d1 T C 11: 69,285,566 (GRCm39) D115G probably benign Het
Dbp C T 7: 45,357,744 (GRCm39) T67I possibly damaging Het
Dennd5b C T 6: 148,943,074 (GRCm39) V601I probably benign Het
Dnah11 G A 12: 118,091,291 (GRCm39) A947V possibly damaging Het
Dpysl3 T A 18: 43,571,193 (GRCm39) D27V probably damaging Het
Drd1 A T 13: 54,207,271 (GRCm39) D307E possibly damaging Het
Dscaml1 G A 9: 45,651,778 (GRCm39) G277D probably damaging Het
Eif4g3 C T 4: 137,885,726 (GRCm39) R842W probably damaging Het
Enam C T 5: 88,652,481 (GRCm39) T1330I possibly damaging Het
Fabp6 T C 11: 43,486,994 (GRCm39) probably null Het
Fcsk A T 8: 111,620,010 (GRCm39) L289* probably null Het
Fhip1a T C 3: 85,579,940 (GRCm39) D755G probably benign Het
Fsip2 C T 2: 82,813,772 (GRCm39) P3364S possibly damaging Het
Gad1 C T 2: 70,409,482 (GRCm39) S191F possibly damaging Het
Gcm1 A C 9: 77,972,055 (GRCm39) N332T probably benign Het
Gin1 G A 1: 97,703,172 (GRCm39) probably benign Het
Gpr25 T C 1: 136,188,538 (GRCm39) D25G probably benign Het
Gstm4 T C 3: 107,948,593 (GRCm39) T172A probably benign Het
Hnrnpll A G 17: 80,342,758 (GRCm39) probably null Het
Il12rb2 T A 6: 67,272,270 (GRCm39) K339* probably null Het
Inpp1 A G 1: 52,828,829 (GRCm39) *397Q probably null Het
Kcp G T 6: 29,497,834 (GRCm39) probably benign Het
Kdm1b G A 13: 47,217,596 (GRCm39) V352I probably benign Het
Klhdc2 G T 12: 69,343,734 (GRCm39) probably benign Het
Krt75 T A 15: 101,481,801 (GRCm39) T156S possibly damaging Het
Lag3 T A 6: 124,886,450 (GRCm39) I168F possibly damaging Het
Lama4 T G 10: 38,948,754 (GRCm39) V839G probably benign Het
Lmtk2 G T 5: 144,111,928 (GRCm39) V883L probably benign Het
Lrrc37a C A 11: 103,347,982 (GRCm39) K2904N unknown Het
Macf1 A T 4: 123,266,192 (GRCm39) I4775N probably damaging Het
Map2k3 T G 11: 60,823,055 (GRCm39) S3A possibly damaging Het
Mast1 G A 8: 85,642,895 (GRCm39) R967C probably damaging Het
Mettl2 T G 11: 105,017,666 (GRCm39) S59A probably benign Het
Mtr G A 13: 12,240,418 (GRCm39) T530I probably damaging Het
Myo7b A T 18: 32,110,052 (GRCm39) C1137S possibly damaging Het
Nacad T A 11: 6,552,540 (GRCm39) H217L probably benign Het
Ncstn A T 1: 171,899,710 (GRCm39) V324E probably damaging Het
Ndufaf7 C A 17: 79,249,546 (GRCm39) H148N possibly damaging Het
Or10a49 T A 7: 108,467,705 (GRCm39) I219F possibly damaging Het
Or52a24 T A 7: 103,381,190 (GRCm39) I19N probably damaging Het
Or52n2b G A 7: 104,566,272 (GRCm39) T77I probably damaging Het
Or7g12 T C 9: 18,899,737 (GRCm39) I151T possibly damaging Het
Or8b12 T G 9: 37,657,729 (GRCm39) L100V probably benign Het
Or8k17 T C 2: 86,066,454 (GRCm39) K242E possibly damaging Het
Pcdh20 T C 14: 88,706,140 (GRCm39) I387V probably benign Het
Pclo A G 5: 14,728,525 (GRCm39) probably benign Het
Pcp2 G A 8: 3,674,904 (GRCm39) probably benign Het
Pde1a T A 2: 79,698,651 (GRCm39) D393V probably damaging Het
Pias4 T C 10: 80,990,197 (GRCm39) D421G possibly damaging Het
Pign T C 1: 105,565,940 (GRCm39) T362A possibly damaging Het
Pkd2 T A 5: 104,634,672 (GRCm39) W568R probably damaging Het
Pld2 T A 11: 70,435,010 (GRCm39) I306N probably damaging Het
Plppr3 T C 10: 79,709,903 (GRCm39) K9R probably damaging Het
Pramel11 T A 4: 143,622,061 (GRCm39) R431S possibly damaging Het
Psme4 T C 11: 30,760,922 (GRCm39) V397A probably damaging Het
Ptbp2 A T 3: 119,555,398 (GRCm39) S23R probably damaging Het
Ptpn13 A G 5: 103,728,575 (GRCm39) D2074G probably null Het
Rab34 T A 11: 78,082,081 (GRCm39) L166H probably damaging Het
Rabgap1l T A 1: 160,472,880 (GRCm39) R519S probably benign Het
Rasa1 A T 13: 85,374,691 (GRCm39) L218* probably null Het
Reln A G 5: 22,249,960 (GRCm39) probably null Het
Rer1 T C 4: 155,162,956 (GRCm39) D94G possibly damaging Het
Rhpn1 T C 15: 75,583,673 (GRCm39) V386A probably benign Het
Samd3 T A 10: 26,147,754 (GRCm39) C476* probably null Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sipa1l3 A G 7: 29,038,592 (GRCm39) S352P possibly damaging Het
Slc27a2 A G 2: 126,428,262 (GRCm39) Y549C probably benign Het
Slc7a9 A G 7: 35,149,279 (GRCm39) T7A probably benign Het
Slco4c1 C T 1: 96,770,224 (GRCm39) G280D probably damaging Het
Snx19 T A 9: 30,344,872 (GRCm39) V657E probably damaging Het
Spata31d1c A G 13: 65,183,690 (GRCm39) M411V probably benign Het
Spice1 T A 16: 44,178,193 (GRCm39) L72* probably null Het
Stard9 G T 2: 120,544,293 (GRCm39) V4471L probably damaging Het
Syt14 A G 1: 192,584,143 (GRCm39) L707P probably damaging Het
Tab1 T C 15: 80,037,869 (GRCm39) I234T probably damaging Het
Tas2r107 T C 6: 131,636,951 (GRCm39) M33V probably benign Het
Tbx4 T A 11: 85,805,349 (GRCm39) S479R possibly damaging Het
Tssk5 C T 15: 76,257,093 (GRCm39) R263Q probably benign Het
Ttn T C 2: 76,701,200 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,489 (GRCm39) Q226L probably benign Het
Ush2a C T 1: 188,447,261 (GRCm39) S2483L probably benign Het
Wdr95 A G 5: 149,475,891 (GRCm39) Y63C probably damaging Het
Xirp2 A G 2: 67,346,700 (GRCm39) I2980M probably damaging Het
Yeats4 G A 10: 117,051,636 (GRCm39) T207I probably benign Het
Ythdc1 A G 5: 86,978,489 (GRCm39) R561G probably damaging Het
Zbtb14 G A 17: 69,694,385 (GRCm39) E28K possibly damaging Het
Zfp931 A T 2: 177,711,684 (GRCm39) L21Q probably damaging Het
Zyg11b A C 4: 108,112,423 (GRCm39) M415R 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
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
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'- CAGACTTATGGTTCCTGCTGGG -3'
(R):5'- CCAGTCATTTGTGTTCCAGTG -3'

Sequencing Primer
(F):5'- GGTGGTTTAAGAAACAAAACCTCC -3'
(R):5'- CATTTGTGTTCCAGTGGTTGAGAC -3'
Posted On 2014-07-14