Incidental Mutation 'R1501:Pik3c2g'
ID 169261
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 040867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1501 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 139789796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087657] [ENSMUST00000087657] [ENSMUST00000111868] [ENSMUST00000218528]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000087657
SMART Domains Protein: ENSMUSP00000084939
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 probably null
Transcript: ENSMUST00000087657
SMART Domains Protein: ENSMUSP00000084939
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 probably null
Transcript: ENSMUST00000111868
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228

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
Predicted Effect probably null
Transcript: ENSMUST00000218528
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,750,787 (GRCm39) S533R probably benign Het
Amph C T 13: 19,288,461 (GRCm39) Q317* probably null Het
Bach2 A G 4: 32,562,279 (GRCm39) T249A possibly damaging Het
Cacna2d3 A G 14: 28,703,137 (GRCm39) C845R probably damaging Het
Calml4 A G 9: 62,778,622 (GRCm39) K12E probably benign Het
Chrd C T 16: 20,556,283 (GRCm39) R615W probably damaging Het
Chst15 T A 7: 131,870,798 (GRCm39) K246* probably null Het
Cmtr2 G A 8: 110,948,235 (GRCm39) D182N probably benign Het
Cyp2d9 C A 15: 82,338,525 (GRCm39) C186* probably null Het
Cyp3a13 G T 5: 137,909,892 (GRCm39) probably null Het
Dcaf17 A T 2: 70,912,332 (GRCm39) I320F probably damaging Het
Ddx10 T C 9: 53,145,297 (GRCm39) I227V possibly damaging Het
Dlc1 G T 8: 37,405,302 (GRCm39) N162K probably benign Het
Dnhd1 G A 7: 105,317,670 (GRCm39) R455H probably benign Het
Drg2 G T 11: 60,355,679 (GRCm39) A306S probably benign Het
Dsg1a A T 18: 20,465,076 (GRCm39) R422S probably damaging Het
Ehbp1l1 A G 19: 5,766,452 (GRCm39) V353A probably damaging Het
Emilin2 T C 17: 71,617,756 (GRCm39) S34G probably benign Het
Enpp2 C A 15: 54,702,910 (GRCm39) W862L probably damaging Het
Exoc2 T C 13: 31,119,485 (GRCm39) I139V probably benign Het
Fhad1 C T 4: 141,691,936 (GRCm39) R400H probably benign Het
Fv1 C T 4: 147,954,595 (GRCm39) T387M probably damaging Het
Gatad1 T A 5: 3,693,701 (GRCm39) D156V probably damaging Het
Gm4744 A G 6: 40,927,367 (GRCm39) probably benign Het
Gm4799 G A 10: 82,790,469 (GRCm39) noncoding transcript Het
Hadha A G 5: 30,333,804 (GRCm39) F405S probably benign Het
Ifit3 T C 19: 34,565,651 (GRCm39) V399A probably benign Het
Il1rapl1 G T X: 86,348,469 (GRCm39) Y150* probably null Het
Kirrel1 T C 3: 86,997,779 (GRCm39) E248G probably benign Het
Krt72 C A 15: 101,686,769 (GRCm39) K392N probably damaging Het
Loxhd1 G A 18: 77,444,528 (GRCm39) G309D probably damaging Het
Mc3r T G 2: 172,091,300 (GRCm39) I174S probably benign Het
Me3 A G 7: 89,282,273 (GRCm39) D52G probably benign Het
Med12l T C 3: 59,168,256 (GRCm39) probably null Het
Mgat5 G A 1: 127,325,378 (GRCm39) probably null Het
Mphosph10 A T 7: 64,039,252 (GRCm39) F239L probably damaging Het
Mrps7 T C 11: 115,495,023 (GRCm39) S13P probably benign Het
Nexn T C 3: 151,943,323 (GRCm39) T527A possibly damaging Het
Nlrp1b G A 11: 71,046,885 (GRCm39) H1156Y probably damaging Het
Nostrin A G 2: 68,989,129 (GRCm39) E120G probably damaging Het
Nsun2 A G 13: 69,779,706 (GRCm39) E624G probably damaging Het
Oga T C 19: 45,767,079 (GRCm39) D99G probably null Het
Or4c102 G A 2: 88,422,492 (GRCm39) V115I possibly damaging Het
Or4k2 A G 14: 50,424,539 (GRCm39) I45T probably damaging Het
Or52n4b G A 7: 108,143,782 (GRCm39) V15I probably benign Het
Or5p70 A C 7: 107,995,289 (GRCm39) K321Q probably benign Het
Phldb2 T C 16: 45,598,146 (GRCm39) N802S probably damaging Het
Pikfyve T A 1: 65,304,443 (GRCm39) I1670N possibly damaging Het
Pld5 A G 1: 175,803,087 (GRCm39) F393L probably benign Het
Plekhg1 C A 10: 3,907,361 (GRCm39) D759E probably benign Het
Plekhm1 A G 11: 103,277,888 (GRCm39) S403P probably benign Het
Pop1 T C 15: 34,510,503 (GRCm39) F432L probably benign Het
Ptpn13 T C 5: 103,664,230 (GRCm39) I406T probably benign Het
Ptpn5 G T 7: 46,739,623 (GRCm39) D185E probably benign Het
Rad50 G T 11: 53,578,978 (GRCm39) Q527K possibly damaging Het
Scn7a A G 2: 66,530,507 (GRCm39) F613L probably benign Het
Sec16a T A 2: 26,330,057 (GRCm39) M653L probably benign Het
Sh3bp2 T C 5: 34,712,920 (GRCm39) probably null Het
Slc22a3 G A 17: 12,725,991 (GRCm39) T74I probably benign Het
Slc23a4 A G 6: 34,932,057 (GRCm39) L272P probably damaging Het
Slc26a8 T C 17: 28,857,536 (GRCm39) D869G possibly damaging Het
Slc5a11 T A 7: 122,859,731 (GRCm39) V291E probably damaging Het
Slc6a19 C A 13: 73,832,167 (GRCm39) A470S probably benign Het
Slfn8 A G 11: 82,894,006 (GRCm39) S878P probably damaging Het
Smchd1 A G 17: 71,672,089 (GRCm39) M1655T possibly damaging Het
Srgap2 A G 1: 131,220,437 (GRCm39) L179P probably damaging Het
Tbx2 A G 11: 85,725,622 (GRCm39) D191G probably damaging Het
Tenm3 A G 8: 48,796,351 (GRCm39) Y485H probably damaging Het
Trim12c T A 7: 103,990,095 (GRCm39) probably benign Het
Trpc6 A G 9: 8,610,170 (GRCm39) T213A probably damaging Het
Upp1 T A 11: 9,084,708 (GRCm39) probably null Het
Vmn1r46 A T 6: 89,953,198 (GRCm39) I16L probably benign Het
Vmn2r75 A T 7: 85,814,850 (GRCm39) D214E possibly damaging Het
Vmn2r95 T A 17: 18,660,118 (GRCm39) Y177N probably damaging Het
Vmn2r99 T G 17: 19,582,521 (GRCm39) I42S possibly damaging Het
Zeb1 A T 18: 5,761,399 (GRCm39) K232N possibly damaging Het
Zfp280b T C 10: 75,875,603 (GRCm39) I494T probably damaging Het
Zfp804a A G 2: 82,066,143 (GRCm39) D38G 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
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
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'- TGTTTTGAGCTGCTAAACTGCCCC -3'
(R):5'- TGTGTCAAACACGGCTACTTACCAG -3'

Sequencing Primer
(F):5'- AACAGACTTATGGTTCCTGCTG -3'
(R):5'- ACGGCTACTTACCAGTCATTTG -3'
Posted On 2014-04-13