Incidental Mutation 'R8724:Pik3c2g'
ID 662279
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 068573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R8724 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139913619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1006 (V1006I)
Ref Sequence ENSEMBL: ENSMUSP00000107499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087657] [ENSMUST00000111868] [ENSMUST00000218528]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000087657
AA Change: V638I

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084939
Gene: ENSMUSG00000030228
AA Change: V638I

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 unknown
Transcript: ENSMUST00000111868
AA Change: V1006I
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: V1006I

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 unknown
Transcript: ENSMUST00000218528
AA Change: V888I
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C T 3: 95,584,426 (GRCm39) R990Q possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ank2 A T 3: 126,737,405 (GRCm39) D2826E unknown Het
Asb3 A T 11: 31,051,120 (GRCm39) I486F probably damaging Het
Atg4b A T 1: 93,696,023 (GRCm39) Y54F probably damaging Het
Atp1a2 T A 1: 172,106,945 (GRCm39) I792F probably benign Het
Bltp1 G A 3: 36,945,042 (GRCm39) V334I probably damaging Het
Ccser1 A C 6: 61,288,199 (GRCm39) S121R probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Cep120 A T 18: 53,856,199 (GRCm39) V406E possibly damaging Het
Ces2g C A 8: 105,692,955 (GRCm39) A331D probably benign Het
Csnk1g2 G A 10: 80,474,760 (GRCm39) R299H probably damaging Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dock10 T G 1: 80,570,344 (GRCm39) I371L probably benign Het
Dpp9 T A 17: 56,512,867 (GRCm39) T114S probably benign Het
Dusp13b T C 14: 21,796,475 (GRCm39) R160G probably benign Het
Dync2i2 T C 2: 29,923,961 (GRCm39) D188G probably benign Het
Edem3 A G 1: 151,651,624 (GRCm39) K122R possibly damaging Het
Ehbp1l1 A G 19: 5,765,886 (GRCm39) S1486P possibly damaging Het
Elf3 A G 1: 135,182,098 (GRCm39) I361T probably damaging Het
Epha3 C T 16: 63,403,818 (GRCm39) C761Y probably damaging Het
Ephb2 A G 4: 136,498,368 (GRCm39) I237T probably damaging Het
Eya1 A T 1: 14,279,206 (GRCm39) D346E probably benign Het
Fat2 T C 11: 55,173,786 (GRCm39) Y2309C probably damaging Het
Fbn1 T C 2: 125,202,066 (GRCm39) D1269G probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Fnbp4 T C 2: 90,577,097 (GRCm39) V143A probably damaging Het
Foxo6 A G 4: 120,144,109 (GRCm39) I114T probably damaging Het
Gm6741 T C 17: 91,544,564 (GRCm39) I109T probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Hsf1 C T 15: 76,381,999 (GRCm39) S199L probably damaging Het
Htr3a T C 9: 48,815,981 (GRCm39) N152S probably damaging Het
Ikzf2 T A 1: 69,617,100 (GRCm39) E82D probably benign Het
Kank2 T G 9: 21,705,917 (GRCm39) K367T possibly damaging Het
Kif20b T A 19: 34,916,146 (GRCm39) probably benign Het
Ktn1 G A 14: 47,931,335 (GRCm39) V643I probably benign Het
Lipk G A 19: 33,996,120 (GRCm39) V11M probably benign Het
Med4 T A 14: 73,751,249 (GRCm39) L66* probably null Het
Mtus1 T C 8: 41,451,500 (GRCm39) K379E probably damaging Het
Nat1 T A 8: 67,944,443 (GRCm39) I276N probably damaging Het
Nav2 G A 7: 49,141,184 (GRCm39) V910M possibly damaging Het
Or10ag53 T A 2: 87,082,704 (GRCm39) I141N probably damaging Het
Or4a80 A T 2: 89,582,373 (GRCm39) D266E probably damaging Het
Pcdh9 A G 14: 94,124,583 (GRCm39) V529A probably benign Het
Pcdhga7 C T 18: 37,848,146 (GRCm39) T51I probably benign Het
Pdcd1 A G 1: 93,968,956 (GRCm39) Y121H probably damaging Het
Pdia6 A G 12: 17,333,982 (GRCm39) D438G unknown Het
Pgm1 A G 4: 99,786,964 (GRCm39) T68A probably benign Het
Plk4 C T 3: 40,768,022 (GRCm39) T855I probably damaging Het
Pnldc1 T A 17: 13,111,703 (GRCm39) N335Y probably damaging Het
Prkcq C T 2: 11,304,784 (GRCm39) P658S probably benign Het
Rbl2 T C 8: 91,841,837 (GRCm39) I1011T possibly damaging Het
Rev1 A C 1: 38,127,150 (GRCm39) V370G probably damaging Het
Rtn4 A G 11: 29,643,316 (GRCm39) E43G unknown Het
Rtp2 C T 16: 23,746,064 (GRCm39) G189D possibly damaging Het
Ryr1 G A 7: 28,816,802 (GRCm39) A78V probably benign Het
Sel1l3 A C 5: 53,293,165 (GRCm39) Y850* probably null Het
Senp3 T C 11: 69,564,419 (GRCm39) Q547R probably damaging Het
Siglecf T C 7: 43,004,976 (GRCm39) L402P probably damaging Het
Slc24a1 T C 9: 64,855,453 (GRCm39) I485V probably benign Het
Slc45a2 T A 15: 11,012,610 (GRCm39) H204Q probably benign Het
Slc9a4 T G 1: 40,623,301 (GRCm39) I180S probably damaging Het
Smyd1 T A 6: 71,193,767 (GRCm39) Y420F probably damaging Het
Sorcs1 A G 19: 50,139,658 (GRCm39) I1168T probably benign Het
Syne1 T C 10: 5,033,861 (GRCm39) E7737G possibly damaging Het
Trappc4 T A 9: 44,316,560 (GRCm39) H145L probably benign Het
Wdr75 T A 1: 45,856,560 (GRCm39) W528R probably damaging Het
Zc3h13 T C 14: 75,569,512 (GRCm39) V1453A probably benign Het
Zfp143 T C 7: 109,681,110 (GRCm39) I318T probably benign Het
Zfp846 G A 9: 20,505,352 (GRCm39) R404H 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
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
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'- CCCTCCAAGGTATAAGTTGTTAGC -3'
(R):5'- AAAAGGCAGATTTTGATCTGGTTC -3'

Sequencing Primer
(F):5'- CTCTCCATTTTCAGGTGGTA -3'
(R):5'- ATGGTTTGGGTCACTACAACCAC -3'
Posted On 2021-03-08