Incidental Mutation 'R7455:Pik3c2g'
ID 578065
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 045529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R7455 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139913643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1014 (Y1014H)
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 damaging
Transcript: ENSMUST00000087657
AA Change: Y646H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084939
Gene: ENSMUSG00000030228
AA Change: Y646H

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: Y1014H
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: Y1014H

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: Y896H
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 C T 7: 76,074,503 (GRCm39) H646Y unknown Het
Ak5 C T 3: 152,187,209 (GRCm39) R426H probably damaging Het
Akap9 T C 5: 4,022,792 (GRCm39) V1207A probably benign Het
Asph A T 4: 9,531,732 (GRCm39) probably null Het
Avpr1a T G 10: 122,285,169 (GRCm39) C154G probably damaging Het
Boll T C 1: 55,339,262 (GRCm39) Q283R probably benign Het
Cad C T 5: 31,231,506 (GRCm39) P1743S probably damaging Het
Ccdc137 T G 11: 120,350,985 (GRCm39) M129R probably damaging Het
Cdh23 A G 10: 60,142,003 (GRCm39) I3028T possibly damaging Het
Cep68 T A 11: 20,180,571 (GRCm39) I687F probably damaging Het
Ces2a T A 8: 105,464,154 (GRCm39) I262N probably damaging Het
Cfap44 A G 16: 44,225,147 (GRCm39) probably benign Het
Cfap69 T G 5: 5,675,873 (GRCm39) H247P possibly damaging Het
Cideb T C 14: 55,992,292 (GRCm39) T134A probably damaging Het
Cilp2 A T 8: 70,333,721 (GRCm39) D1092E probably damaging Het
Cptp G A 4: 155,950,957 (GRCm39) R170C probably damaging Het
Cysrt1 A G 2: 25,129,422 (GRCm39) L30S probably benign Het
Dcc A G 18: 71,553,394 (GRCm39) V754A probably benign Het
Entrep2 A G 7: 64,409,161 (GRCm39) V411A probably benign Het
Fer1l5 A T 1: 36,428,064 (GRCm39) T453S probably benign Het
Fnbp4 ACCACCTCCACCTCCACCTCC ACCACCTCCACCTCCACCTCCACCTCC 2: 90,608,159 (GRCm39) probably benign Het
Frem2 C T 3: 53,479,701 (GRCm39) probably null Het
Gm13941 A G 2: 110,925,085 (GRCm39) F173L unknown Het
Greb1l G A 18: 10,554,915 (GRCm39) A1654T probably damaging Het
Inpp4b T A 8: 82,798,332 (GRCm39) I840N probably damaging Het
Kdm4b T A 17: 56,703,657 (GRCm39) I746N probably damaging Het
Lins1 C A 7: 66,361,692 (GRCm39) H448N probably benign Het
Ly9 A T 1: 171,421,507 (GRCm39) Y581* probably null Het
Mark1 T A 1: 184,651,947 (GRCm39) E186V probably damaging Het
Mcph1 T A 8: 18,681,775 (GRCm39) V304E probably benign Het
Mical3 T C 6: 120,935,705 (GRCm39) D1607G probably damaging Het
Mup18 A G 4: 61,592,171 (GRCm39) V31A probably benign Het
Nectin3 A T 16: 46,317,105 (GRCm39) C11* probably null Het
Nedd1 A T 10: 92,536,787 (GRCm39) L172M probably benign Het
Nim1k G A 13: 120,173,995 (GRCm39) R300W probably damaging Het
Oprm1 T C 10: 6,780,204 (GRCm39) F289L probably damaging Het
Or4c115 G T 2: 88,927,434 (GRCm39) P279Q probably damaging Het
Or7g12 A G 9: 18,900,150 (GRCm39) I289V possibly damaging Het
Or8c8 T C 9: 38,165,550 (GRCm39) V276A probably damaging Het
Parg T C 14: 31,931,432 (GRCm39) Y351H probably benign Het
Phf3 A C 1: 30,876,239 (GRCm39) V118G probably damaging Het
Pmp22 A G 11: 63,025,339 (GRCm39) probably null Het
Ppfibp1 T A 6: 146,917,848 (GRCm39) F501L probably damaging Het
Rgl2 G A 17: 34,151,657 (GRCm39) A234T probably benign Het
Rhpn2 G A 7: 35,070,669 (GRCm39) probably null Het
Ryr3 T C 2: 112,559,211 (GRCm39) K3058E probably damaging Het
Sbsn A T 7: 30,452,602 (GRCm39) Q539L possibly damaging Het
Scgn G A 13: 24,150,848 (GRCm39) R168C probably benign Het
Serpinb10 A G 1: 107,463,832 (GRCm39) Y38C probably damaging Het
Sfmbt2 G A 2: 10,582,766 (GRCm39) V709I probably benign Het
Slc1a2 A T 2: 102,566,299 (GRCm39) M10L probably benign Het
Sox6 T G 7: 115,088,904 (GRCm39) I653L probably benign Het
Tespa1 A G 10: 130,196,559 (GRCm39) I166V probably benign Het
Tex15 T C 8: 34,067,025 (GRCm39) Y2152H possibly damaging Het
Tlr9 A G 9: 106,101,729 (GRCm39) N340S probably benign Het
Tmem198 G A 1: 75,456,430 (GRCm39) R28Q unknown Het
Tut7 T C 13: 59,969,871 (GRCm39) Y8C probably benign Het
Vmn2r7 T C 3: 64,624,014 (GRCm39) D102G probably benign Het
Wdr93 A G 7: 79,425,267 (GRCm39) M529V probably benign Het
Zfp110 A G 7: 12,581,984 (GRCm39) H310R probably benign Het
Zfp36l2 A G 17: 84,494,575 (GRCm39) S21P probably damaging Het
Zfp534 G A 4: 147,759,212 (GRCm39) H486Y probably damaging Het
Zfp638 G A 6: 83,907,127 (GRCm39) V431I 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
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
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'- CATTCAAGCATATCTGATTCACACG -3'
(R):5'- TTCTCCCAGCTTTAGAGAAACACC -3'

Sequencing Primer
(F):5'- AGCATATCTGATTCACACGTTCCTTC -3'
(R):5'- ATGGTTTGGGTCACTACAACCAC -3'
Posted On 2019-10-07