Incidental Mutation 'R6298:Pik3c2g'
ID 508895
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 044408-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R6298 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 139587221-139969284 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139626563 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 249 (C249Y)
Ref Sequence ENSEMBL: ENSMUSP00000140368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032353] [ENSMUST00000185968] [ENSMUST00000187618] [ENSMUST00000188066] [ENSMUST00000190962]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032353
AA Change: C249Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032353
Gene: ENSMUSG00000030228
AA Change: C249Y

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000185968
AA Change: C249Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140368
Gene: ENSMUSG00000030228
AA Change: C249Y

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 damaging
Transcript: ENSMUST00000187618
AA Change: C249Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141025
Gene: ENSMUSG00000030228
AA Change: C249Y

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000188066
Predicted Effect probably damaging
Transcript: ENSMUST00000190962
AA Change: C249Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141141
Gene: ENSMUSG00000030228
AA Change: C249Y

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Meta Mutation Damage Score 0.7841 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (79/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik T A 13: 98,984,466 (GRCm38) R17S probably benign Het
Abtb2 A T 2: 103,709,488 (GRCm38) M733L probably benign Het
Acss3 G A 10: 107,084,856 (GRCm38) P131L probably damaging Het
Adgrv1 T A 13: 81,391,767 (GRCm38) I5678F probably benign Het
Aff1 C T 5: 103,754,720 (GRCm38) L6F possibly damaging Het
AI314180 T G 4: 58,877,157 (GRCm38) T93P probably damaging Het
Ank3 G T 10: 69,850,176 (GRCm38) R273L probably damaging Het
Anks1b G A 10: 90,680,837 (GRCm38) G898D probably damaging Het
Anxa11 C T 14: 25,872,734 (GRCm38) P131S unknown Het
Ap4e1 T A 2: 127,047,115 (GRCm38) M500K probably benign Het
Bag3 T C 7: 128,540,198 (GRCm38) S138P probably damaging Het
Capn9 T C 8: 124,617,454 (GRCm38) V670A probably benign Het
Ccne2 T A 4: 11,199,306 (GRCm38) W236R probably damaging Het
Cdh23 A T 10: 60,426,672 (GRCm38) Y702* probably null Het
Chd1l G A 3: 97,587,167 (GRCm38) A399V probably damaging Het
Cit A T 5: 115,948,065 (GRCm38) E896V probably damaging Het
Cntln T A 4: 85,096,761 (GRCm38) N1096K probably damaging Het
Cntnap5c T C 17: 58,104,752 (GRCm38) C544R probably damaging Het
Csf1 A T 3: 107,748,359 (GRCm38) L452Q possibly damaging Het
Cts8 T A 13: 61,249,223 (GRCm38) K294N possibly damaging Het
D430042O09Rik T C 7: 125,870,697 (GRCm38) V1446A probably benign Het
Dcakd T G 11: 102,999,792 (GRCm38) E56D possibly damaging Het
Dnah17 T C 11: 118,108,161 (GRCm38) I929V probably benign Het
Dnah2 G T 11: 69,491,641 (GRCm38) H1214Q probably benign Het
Dock9 T C 14: 121,634,594 (GRCm38) D536G probably damaging Het
Drc3 A G 11: 60,393,770 (GRCm38) N467S possibly damaging Het
Dysf A G 6: 84,107,136 (GRCm38) probably null Het
Evpl A T 11: 116,230,922 (GRCm38) L378Q probably damaging Het
Fer1l4 A T 2: 156,024,740 (GRCm38) H1520Q probably damaging Het
Fhod1 A T 8: 105,337,148 (GRCm38) probably benign Het
Gabra1 T A 11: 42,182,378 (GRCm38) probably benign Het
Gm10549 C A 18: 33,464,305 (GRCm38) probably benign Het
Gm14137 A G 2: 119,175,091 (GRCm38) T44A possibly damaging Het
Gm9833 T C 3: 10,089,179 (GRCm38) I336T probably damaging Het
Herc2 T C 7: 56,191,265 (GRCm38) M3444T probably benign Het
Igsf5 T C 16: 96,396,448 (GRCm38) S208P possibly damaging Het
Ino80b A G 6: 83,125,085 (GRCm38) L12P possibly damaging Het
Insrr A G 3: 87,812,965 (GRCm38) D970G probably damaging Het
Iqcf4 G A 9: 106,568,675 (GRCm38) A91V probably benign Het
Itga10 A G 3: 96,656,762 (GRCm38) T911A probably benign Het
Klhl30 A T 1: 91,357,364 (GRCm38) D314V probably benign Het
Lpcat1 T C 13: 73,510,955 (GRCm38) V330A possibly damaging Het
Nhlrc3 A T 3: 53,452,523 (GRCm38) D306E possibly damaging Het
Notum T A 11: 120,657,940 (GRCm38) I187F probably damaging Het
Nphp3 T C 9: 104,015,441 (GRCm38) L288P probably damaging Het
Ntrk2 G T 13: 58,871,756 (GRCm38) E394* probably null Het
Olfr420 T A 1: 174,152,182 (GRCm38) V222D probably benign Het
Pbld2 A G 10: 63,039,152 (GRCm38) K63E probably benign Het
Phc2 T C 4: 128,748,189 (GRCm38) M768T possibly damaging Het
Plod1 G A 4: 147,916,315 (GRCm38) probably benign Het
Plscr2 A T 9: 92,290,719 (GRCm38) T9S probably benign Het
Pnrc1 T A 4: 33,246,315 (GRCm38) M215L probably benign Het
Prcp G T 7: 92,928,633 (GRCm38) C370F probably damaging Het
Pter A G 2: 12,978,394 (GRCm38) N70S probably damaging Het
Ptprt G T 2: 161,553,859 (GRCm38) H1131Q probably damaging Het
Rasal2 T C 1: 157,411,862 (GRCm38) D8G possibly damaging Het
Rcn2 A C 9: 56,052,925 (GRCm38) K159Q probably benign Het
Rex2 T A 4: 147,057,515 (GRCm38) C153* probably null Het
Rps6ka2 T C 17: 7,170,367 (GRCm38) F8S possibly damaging Het
Samd9l A G 6: 3,375,383 (GRCm38) L626S probably damaging Het
Sptb A G 12: 76,620,654 (GRCm38) probably null Het
Srgap3 A T 6: 112,816,610 (GRCm38) V135D probably damaging Het
Srsf7 T C 17: 80,207,253 (GRCm38) probably benign Het
Tacc2 A G 7: 130,626,525 (GRCm38) T1647A probably benign Het
Thap12 G T 7: 98,703,405 (GRCm38) A6S probably damaging Het
Tmem33 T A 5: 67,268,551 (GRCm38) L146* probably null Het
Trip13 C A 13: 73,936,259 (GRCm38) E36* probably null Het
Vkorc1l1 T A 5: 129,942,238 (GRCm38) C23S probably damaging Het
Vmn1r20 G A 6: 57,432,127 (GRCm38) R146H probably benign Het
Vmn1r222 T A 13: 23,232,795 (GRCm38) I83F probably benign Het
Vmn2r107 A T 17: 20,355,782 (GRCm38) I125F probably benign Het
Vmn2r116 A G 17: 23,386,762 (GRCm38) D216G probably damaging Het
Vwa3a C T 7: 120,795,651 (GRCm38) T898I probably benign Het
Wdfy3 T C 5: 101,968,946 (GRCm38) D76G probably damaging Het
Wdhd1 T C 14: 47,273,122 (GRCm38) D148G possibly damaging Het
Xylt1 T C 7: 117,656,737 (GRCm38) I844T probably damaging Het
Zfp106 A T 2: 120,522,704 (GRCm38) V1535D probably damaging Het
Zfp385b A T 2: 77,413,979 (GRCm38) L315Q possibly damaging Het
Zfp458 T A 13: 67,256,806 (GRCm38) H523L probably damaging Het
Zfp712 T C 13: 67,041,329 (GRCm38) H378R probably damaging Het
Zic1 T C 9: 91,364,503 (GRCm38) Y172C probably damaging Het
Other mutations in Pik3c2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Pik3c2g APN 6 139,896,125 (GRCm38) missense probably damaging 1.00
IGL01355:Pik3c2g APN 6 139,852,857 (GRCm38) missense probably damaging 0.98
IGL01579:Pik3c2g APN 6 139,754,741 (GRCm38) nonsense probably null
IGL01580:Pik3c2g APN 6 139,622,516 (GRCm38) missense probably damaging 0.99
IGL01587:Pik3c2g APN 6 139,754,741 (GRCm38) nonsense probably null
IGL01813:Pik3c2g APN 6 139,622,409 (GRCm38) missense possibly damaging 0.55
IGL02218:Pik3c2g APN 6 139,860,355 (GRCm38) missense probably damaging 1.00
IGL02479:Pik3c2g APN 6 139,918,004 (GRCm38) missense probably benign 0.40
IGL02480:Pik3c2g APN 6 139,852,800 (GRCm38) missense probably damaging 1.00
IGL02721:Pik3c2g APN 6 139,736,973 (GRCm38) missense probably benign 0.15
IGL02967:Pik3c2g APN 6 139,967,828 (GRCm38) missense probably damaging 0.98
IGL03221:Pik3c2g APN 6 139,772,407 (GRCm38) critical splice acceptor site probably null
FR4304:Pik3c2g UTSW 6 139,635,656 (GRCm38) frame shift probably null
FR4340:Pik3c2g UTSW 6 139,635,656 (GRCm38) frame shift probably null
FR4976:Pik3c2g UTSW 6 139,635,654 (GRCm38) frame shift probably null
IGL02837:Pik3c2g UTSW 6 139,626,564 (GRCm38) nonsense probably null
PIT4531001:Pik3c2g UTSW 6 139,859,370 (GRCm38) missense
R0002:Pik3c2g UTSW 6 139,768,745 (GRCm38) missense probably benign 0.08
R0081:Pik3c2g UTSW 6 139,957,793 (GRCm38) missense probably benign 0.05
R0098:Pik3c2g UTSW 6 139,662,443 (GRCm38) missense unknown
R0719:Pik3c2g UTSW 6 139,629,725 (GRCm38) missense probably damaging 1.00
R0740:Pik3c2g UTSW 6 139,633,793 (GRCm38) critical splice donor site probably null
R0837:Pik3c2g UTSW 6 139,957,699 (GRCm38) splice site probably benign
R0840:Pik3c2g UTSW 6 139,896,072 (GRCm38) missense probably damaging 1.00
R1306:Pik3c2g UTSW 6 139,772,428 (GRCm38) missense probably benign
R1501:Pik3c2g UTSW 6 139,844,070 (GRCm38) critical splice donor site probably null
R1591:Pik3c2g UTSW 6 139,748,178 (GRCm38) missense probably benign 0.00
R1666:Pik3c2g UTSW 6 139,635,636 (GRCm38) intron probably benign
R1907:Pik3c2g UTSW 6 139,844,042 (GRCm38) missense probably damaging 1.00
R1970:Pik3c2g UTSW 6 139,900,386 (GRCm38) critical splice donor site probably null
R1982:Pik3c2g UTSW 6 139,622,548 (GRCm38) missense probably damaging 0.97
R2171:Pik3c2g UTSW 6 139,855,286 (GRCm38) nonsense probably null
R2188:Pik3c2g UTSW 6 139,852,874 (GRCm38) missense probably damaging 1.00
R3777:Pik3c2g UTSW 6 139,622,387 (GRCm38) missense probably damaging 1.00
R3778:Pik3c2g UTSW 6 139,622,387 (GRCm38) missense probably damaging 1.00
R3965:Pik3c2g UTSW 6 139,855,292 (GRCm38) missense possibly damaging 0.90
R4076:Pik3c2g UTSW 6 139,852,863 (GRCm38) missense probably damaging 1.00
R4078:Pik3c2g UTSW 6 139,635,610 (GRCm38) intron probably benign
R4108:Pik3c2g UTSW 6 139,730,370 (GRCm38) missense probably benign 0.00
R4461:Pik3c2g UTSW 6 139,841,681 (GRCm38) intron probably benign
R4474:Pik3c2g UTSW 6 139,633,751 (GRCm38) missense probably damaging 0.99
R4509:Pik3c2g UTSW 6 139,720,006 (GRCm38) missense probably benign 0.25
R4646:Pik3c2g UTSW 6 139,720,018 (GRCm38) missense probably benign 0.05
R4732:Pik3c2g UTSW 6 139,935,985 (GRCm38) missense probably benign 0.28
R4733:Pik3c2g UTSW 6 139,935,985 (GRCm38) missense probably benign 0.28
R4854:Pik3c2g UTSW 6 139,768,779 (GRCm38) missense probably damaging 1.00
R4928:Pik3c2g UTSW 6 139,967,802 (GRCm38) missense possibly damaging 0.88
R4959:Pik3c2g UTSW 6 139,843,931 (GRCm38) missense possibly damaging 0.65
R4973:Pik3c2g UTSW 6 139,843,931 (GRCm38) missense possibly damaging 0.65
R5032:Pik3c2g UTSW 6 139,896,202 (GRCm38) missense probably benign 0.00
R5071:Pik3c2g UTSW 6 139,720,147 (GRCm38) missense probably null 0.00
R5072:Pik3c2g UTSW 6 139,720,147 (GRCm38) missense probably null 0.00
R5073:Pik3c2g UTSW 6 139,720,147 (GRCm38) missense probably null 0.00
R5074:Pik3c2g UTSW 6 139,720,147 (GRCm38) missense probably null 0.00
R5107:Pik3c2g UTSW 6 139,635,625 (GRCm38) intron probably benign
R5186:Pik3c2g UTSW 6 139,622,018 (GRCm38) missense probably damaging 1.00
R5253:Pik3c2g UTSW 6 139,896,257 (GRCm38) critical splice donor site probably null
R5359:Pik3c2g UTSW 6 139,622,123 (GRCm38) missense probably damaging 1.00
R5394:Pik3c2g UTSW 6 139,720,082 (GRCm38) missense probably benign
R5417:Pik3c2g UTSW 6 139,736,943 (GRCm38) missense probably benign
R5435:Pik3c2g UTSW 6 139,715,855 (GRCm38) splice site probably null
R5580:Pik3c2g UTSW 6 139,626,533 (GRCm38) missense probably damaging 0.99
R5664:Pik3c2g UTSW 6 139,737,007 (GRCm38) missense probably damaging 0.98
R5908:Pik3c2g UTSW 6 139,768,710 (GRCm38) missense
R5914:Pik3c2g UTSW 6 139,622,479 (GRCm38) missense probably benign 0.00
R6046:Pik3c2g UTSW 6 139,896,792 (GRCm38) missense probably damaging 1.00
R6046:Pik3c2g UTSW 6 139,622,139 (GRCm38) missense probably damaging 0.96
R6382:Pik3c2g UTSW 6 139,719,998 (GRCm38) missense possibly damaging 0.88
R6480:Pik3c2g UTSW 6 139,730,469 (GRCm38) missense probably benign 0.27
R6917:Pik3c2g UTSW 6 139,896,173 (GRCm38) missense probably benign 0.00
R6929:Pik3c2g UTSW 6 139,957,776 (GRCm38) missense possibly damaging 0.67
R7022:Pik3c2g UTSW 6 139,622,063 (GRCm38) missense possibly damaging 0.82
R7144:Pik3c2g UTSW 6 139,629,870 (GRCm38) missense probably damaging 1.00
R7213:Pik3c2g UTSW 6 139,860,264 (GRCm38) missense
R7215:Pik3c2g UTSW 6 139,754,863 (GRCm38) missense
R7332:Pik3c2g UTSW 6 139,896,255 (GRCm38) missense
R7357:Pik3c2g UTSW 6 139,633,793 (GRCm38) critical splice donor site probably null
R7359:Pik3c2g UTSW 6 139,967,894 (GRCm38) missense unknown
R7385:Pik3c2g UTSW 6 139,855,353 (GRCm38) missense
R7455:Pik3c2g UTSW 6 139,967,917 (GRCm38) missense unknown
R7651:Pik3c2g UTSW 6 139,622,072 (GRCm38) missense possibly damaging 0.85
R7888:Pik3c2g UTSW 6 139,896,744 (GRCm38) missense
R7923:Pik3c2g UTSW 6 139,633,793 (GRCm38) critical splice donor site probably null
R7964:Pik3c2g UTSW 6 139,882,060 (GRCm38) missense
R8005:Pik3c2g UTSW 6 139,622,069 (GRCm38) missense probably benign 0.01
R8371:Pik3c2g UTSW 6 139,936,056 (GRCm38) missense unknown
R8724:Pik3c2g UTSW 6 139,967,893 (GRCm38) missense unknown
R8733:Pik3c2g UTSW 6 139,768,700 (GRCm38) nonsense probably null
R8809:Pik3c2g UTSW 6 139,768,710 (GRCm38) missense
R8888:Pik3c2g UTSW 6 139,730,366 (GRCm38) nonsense probably null
R8931:Pik3c2g UTSW 6 139,875,367 (GRCm38) missense probably benign 0.02
R9188:Pik3c2g UTSW 6 139,622,403 (GRCm38) missense possibly damaging 0.94
R9336:Pik3c2g UTSW 6 139,875,435 (GRCm38) missense
R9383:Pik3c2g UTSW 6 139,882,016 (GRCm38) nonsense probably null
R9524:Pik3c2g UTSW 6 139,629,770 (GRCm38) missense probably damaging 0.99
R9531:Pik3c2g UTSW 6 139,896,200 (GRCm38) missense
R9630:Pik3c2g UTSW 6 139,622,239 (GRCm38) missense possibly damaging 0.66
R9697:Pik3c2g UTSW 6 139,967,791 (GRCm38) missense unknown
R9708:Pik3c2g UTSW 6 139,629,867 (GRCm38) missense probably benign
R9717:Pik3c2g UTSW 6 139,896,184 (GRCm38) missense
RF015:Pik3c2g UTSW 6 139,754,771 (GRCm38) missense
RF032:Pik3c2g UTSW 6 139,635,658 (GRCm38) frame shift probably null
X0024:Pik3c2g UTSW 6 139,860,258 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGACAGGACAGATGCATACATTC -3'
(R):5'- AGCCAGCAAGGTGATCAATG -3'

Sequencing Primer
(F):5'- GACAGATGCATACATTCCTGAAG -3'
(R):5'- CCAGCAAGGTGATCAATGATAGCTTG -3'
Posted On 2018-04-02