Incidental Mutation 'R7357:Pik3c2g'
ID 571026
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 045443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R7357 (G1)
Quality Score 225.009
Status 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 139610791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032353] [ENSMUST00000185968] [ENSMUST00000187618] [ENSMUST00000190962]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000032353
SMART Domains Protein: ENSMUSP00000032353
Gene: ENSMUSG00000030228

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000185968
SMART Domains Protein: ENSMUSP00000140368
Gene: ENSMUSG00000030228

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 probably null
Transcript: ENSMUST00000187618
SMART Domains Protein: ENSMUSP00000141025
Gene: ENSMUSG00000030228

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000190962
SMART Domains Protein: ENSMUSP00000141141
Gene: ENSMUSG00000030228

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 97% (64/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A T 2: 155,845,787 (GRCm39) H23Q unknown Het
9530068E07Rik A T 11: 52,297,821 (GRCm39) K233I probably damaging Het
Aldh1l2 T C 10: 83,350,408 (GRCm39) M320V possibly damaging Het
C2cd3 A G 7: 100,079,310 (GRCm39) N838S Het
Cacna1s T C 1: 135,998,759 (GRCm39) F218S probably damaging Het
Carmil3 G T 14: 55,728,590 (GRCm39) probably benign Het
Cd300a A T 11: 114,784,153 (GRCm39) T54S probably benign Het
Celf3 G A 3: 94,387,637 (GRCm39) E70K probably damaging Het
Celsr1 A C 15: 85,914,715 (GRCm39) M1086R probably benign Het
Ces2f G A 8: 105,676,595 (GRCm39) M96I probably benign Het
Chrdl2 G A 7: 99,678,414 (GRCm39) V329I probably benign Het
Ctc1 T A 11: 68,925,568 (GRCm39) L1035Q probably benign Het
Dbi A G 1: 120,047,623 (GRCm39) probably null Het
Dock3 A G 9: 106,882,568 (GRCm39) I405T probably benign Het
Dpp4 A T 2: 62,217,421 (GRCm39) W59R probably benign Het
Dsg3 T A 18: 20,672,840 (GRCm39) I837N probably damaging Het
Fbxw15 A G 9: 109,387,308 (GRCm39) V229A probably benign Het
Fermt3 T C 19: 6,980,211 (GRCm39) T395A probably benign Het
Focad A T 4: 88,147,572 (GRCm39) I404F probably benign Het
Gm8104 T C 14: 42,959,068 (GRCm39) I86T probably damaging Het
Gm9857 A C 3: 108,847,478 (GRCm39) L95R unknown Het
Hoxa1 A T 6: 52,133,929 (GRCm39) S266T probably benign Het
Kif19b A G 5: 140,480,806 (GRCm39) R979G possibly damaging Het
Leng8 T A 7: 4,147,932 (GRCm39) Y625* probably null Het
Mast3 A G 8: 71,237,503 (GRCm39) V557A probably damaging Het
Morc1 T C 16: 48,442,953 (GRCm39) F813L probably benign Het
Ntf3 T A 6: 126,078,961 (GRCm39) I182F probably damaging Het
Nup153 G T 13: 46,870,642 (GRCm39) A91E probably benign Het
Or13l2 G C 3: 97,317,971 (GRCm39) N175K probably damaging Het
Or52h1 A T 7: 103,828,978 (GRCm39) D212E probably damaging Het
Pamr1 G A 2: 102,417,049 (GRCm39) W120* probably null Het
Pcsk1 A G 13: 75,274,079 (GRCm39) N436S probably damaging Het
Pde4dip T C 3: 97,622,857 (GRCm39) K1451E probably benign Het
Pebp4 G A 14: 70,285,864 (GRCm39) V176I possibly damaging Het
Phgdh G A 3: 98,247,138 (GRCm39) A4V probably benign Het
Ppic T C 18: 53,544,139 (GRCm39) Y82C probably damaging Het
Ppip5k2 A G 1: 97,686,941 (GRCm39) V94A possibly damaging Het
Ppp1r9b T C 11: 94,895,424 (GRCm39) V704A probably benign Het
Pramel6 G T 2: 87,340,856 (GRCm39) R396L not run Het
Prss48 A T 3: 85,904,528 (GRCm39) D223E probably damaging Het
Psd3 T C 8: 68,574,149 (GRCm39) K11E probably benign Het
Rabgap1l T C 1: 160,169,608 (GRCm39) K780E probably damaging Het
Retreg1 A T 15: 25,972,029 (GRCm39) D323V probably damaging Het
Samd11 A T 4: 156,340,067 (GRCm39) probably null Het
Sec14l3 T A 11: 4,020,127 (GRCm39) F188Y probably benign Het
Serpina5 A T 12: 104,069,639 (GRCm39) T284S possibly damaging Het
Setx A G 2: 29,020,313 (GRCm39) D100G probably benign Het
Sis A T 3: 72,832,404 (GRCm39) V1035D probably damaging Het
Slco4a1 A G 2: 180,113,930 (GRCm39) I456V probably benign Het
Snx14 A T 9: 88,286,369 (GRCm39) C393S possibly damaging Het
Stil T C 4: 114,871,423 (GRCm39) probably null Het
Sult6b1 A G 17: 79,202,059 (GRCm39) S148P probably damaging Het
Sycp2 G T 2: 178,045,597 (GRCm39) probably null Het
Tesmin T C 19: 3,447,042 (GRCm39) I273T probably benign Het
Tmem39a T A 16: 38,406,592 (GRCm39) Y310N probably damaging Het
Trp53bp1 A T 2: 121,041,781 (GRCm39) D1258E probably damaging Het
Ttc12 A C 9: 49,349,687 (GRCm39) D703E probably benign Het
Unc13c TATAA TATAATAA 9: 73,840,810 (GRCm39) probably benign Het
Unc13c ATA ATAGTA 9: 73,840,811 (GRCm39) probably benign Het
Usp18 T C 6: 121,230,808 (GRCm39) I79T possibly damaging Het
Usp9y A T Y: 1,333,656 (GRCm39) D1596E possibly damaging Het
Vmn2r109 A T 17: 20,761,536 (GRCm39) V607E probably damaging Het
Vwa8 G A 14: 79,275,641 (GRCm39) R808K probably null Het
Zfp248 A G 6: 118,406,618 (GRCm39) Y324H probably damaging Het
Zfp513 G A 5: 31,357,132 (GRCm39) P387S possibly 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
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
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'- GCTGGATATTTCATGAGCTCTTTC -3'
(R):5'- TTCCCGGCGAGGTTTCTATAC -3'

Sequencing Primer
(F):5'- ATATTTCATGAGCTCTTTCTCACTCG -3'
(R):5'- GCGTTCAAATATCCAAGCCTGTGG -3'
Posted On 2019-09-13