Incidental Mutation 'R9630:Pik3c2g'
ID 725426
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R9630 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 139587221-139969284 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 139622239 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 118 (Q118K)
Ref Sequence ENSEMBL: ENSMUSP00000141141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032353] [ENSMUST00000185968] [ENSMUST00000187618] [ENSMUST00000188066] [ENSMUST00000190962]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032353
AA Change: Q118K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032353
Gene: ENSMUSG00000030228
AA Change: Q118K

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: Q118K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140368
Gene: ENSMUSG00000030228
AA Change: Q118K

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 371 2e-42 SMART
Blast:PI3K_rbd 272 371 2e-64 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000187618
AA Change: Q118K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141025
Gene: ENSMUSG00000030228
AA Change: Q118K

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000188066
AA Change: Q118K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000190962
AA Change: Q118K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141141
Gene: ENSMUSG00000030228
AA Change: Q118K

DomainStartEndE-ValueType
SCOP:d1e8xa3 223 344 4e-33 SMART
Blast:PI3K_rbd 272 345 7e-44 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T C 7: 28,137,199 (GRCm38) L181P probably damaging Het
Arhgap17 A G 7: 123,308,317 (GRCm38) M274T probably benign Het
Bco2 T C 9: 50,545,457 (GRCm38) T128A possibly damaging Het
Bcr T A 10: 75,131,118 (GRCm38) L519Q probably damaging Het
Cadps2 A T 6: 23,587,572 (GRCm38) S306R probably benign Het
Cage1 T C 13: 38,022,879 (GRCm38) E330G probably damaging Het
Ccdc8 A G 7: 16,994,808 (GRCm38) K74R possibly damaging Het
Cdc42ep2 C A 19: 5,918,335 (GRCm38) G114V Het
Celsr3 T C 9: 108,827,097 (GRCm38) S260P probably benign Het
Clic4 G A 4: 135,217,165 (GRCm38) T233I probably damaging Het
Clip2 C A 5: 134,503,080 (GRCm38) D624Y probably damaging Het
Clock A G 5: 76,245,434 (GRCm38) S221P probably benign Het
Creb3l2 G T 6: 37,379,873 (GRCm38) S86R possibly damaging Het
Cspp1 G A 1: 10,038,067 (GRCm38) probably benign Het
Doxl2 A G 6: 48,975,822 (GRCm38) D227G probably damaging Het
Dusp13 A T 14: 21,734,906 (GRCm38) N128K probably benign Het
Efnb2 T C 8: 8,620,617 (GRCm38) S328G probably damaging Het
Egf A G 3: 129,725,195 (GRCm38) L335P possibly damaging Het
Eml4 T A 17: 83,410,143 (GRCm38) V48D probably damaging Het
Fat2 A C 11: 55,256,779 (GRCm38) V3879G probably benign Het
Flnb T A 14: 7,926,438 (GRCm38) Y1827* probably null Het
Fuca2 A T 10: 13,503,076 (GRCm38) Y71F probably benign Het
Gcn1l1 C A 5: 115,603,290 (GRCm38) H1463N probably damaging Het
Ifitm10 C T 7: 142,371,172 (GRCm38) A48T probably damaging Het
Iqce T C 5: 140,680,836 (GRCm38) D385G possibly damaging Het
Kdm5b T A 1: 134,585,233 (GRCm38) probably null Het
Kdm7a A T 6: 39,173,305 (GRCm38) S178T probably damaging Het
Mmp12 T A 9: 7,347,516 (GRCm38) M31K probably benign Het
Mon2 C T 10: 123,038,510 (GRCm38) R311H probably damaging Het
Myh15 A G 16: 49,159,978 (GRCm38) T1488A probably benign Het
Myo15 T A 11: 60,517,162 (GRCm38) C3159S probably damaging Het
Nf1 T C 11: 79,411,644 (GRCm38) V346A probably damaging Het
Nfkbib A T 7: 28,761,879 (GRCm38) Y114* probably null Het
Nr2c1 T A 10: 94,162,423 (GRCm38) D76E probably benign Het
Obscn G A 11: 59,052,571 (GRCm38) R4251C probably benign Het
Olfr1022 A G 2: 85,869,149 (GRCm38) M186V probably benign Het
Olfr1097 A C 2: 86,890,612 (GRCm38) S188A probably damaging Het
Olfr1247 C A 2: 89,610,005 (GRCm38) M32I probably benign Het
Olfr356 T C 2: 36,937,641 (GRCm38) I174T probably damaging Het
Olfr820 T C 10: 130,017,541 (GRCm38) F60S probably damaging Het
Pced1a A T 2: 130,419,189 (GRCm38) I416N probably benign Het
Pdzd2 G T 15: 12,374,357 (GRCm38) D1897E probably benign Het
Pign A T 1: 105,553,866 (GRCm38) F802I probably benign Het
Plcl2 A G 17: 50,640,119 (GRCm38) M1009V probably benign Het
Ppil6 T A 10: 41,494,554 (GRCm38) D59E probably benign Het
Rad23a T C 8: 84,838,290 (GRCm38) D152G probably benign Het
Rif1 A G 2: 52,089,595 (GRCm38) I430V probably damaging Het
Rint1 T C 5: 23,815,812 (GRCm38) V611A possibly damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,579,906 (GRCm38) probably benign Het
Sall4 A G 2: 168,754,488 (GRCm38) S811P probably benign Het
Scaf11 G A 15: 96,418,168 (GRCm38) P1172S probably damaging Het
Sel1l3 T G 5: 53,184,775 (GRCm38) N368H possibly damaging Het
Sele C A 1: 164,051,954 (GRCm38) P352Q probably damaging Het
Serpinf1 T A 11: 75,411,026 (GRCm38) T268S probably benign Het
Sez6 G A 11: 77,974,295 (GRCm38) E623K possibly damaging Het
Sis A T 3: 72,921,389 (GRCm38) N1152K probably benign Het
Slc16a13 T C 11: 70,217,771 (GRCm38) E411G possibly damaging Het
Slc22a23 T C 13: 34,195,407 (GRCm38) N459S possibly damaging Het
Srpk1 C A 17: 28,600,430 (GRCm38) K268N probably benign Het
Ssbp3 A G 4: 107,038,229 (GRCm38) Y258C probably damaging Het
Ssc5d C T 7: 4,936,427 (GRCm38) P621S probably damaging Het
Strada T C 11: 106,186,955 (GRCm38) Q61R unknown Het
Strn3 G A 12: 51,610,230 (GRCm38) T755I probably damaging Het
Taf4b C G 18: 14,797,020 (GRCm38) P150A probably damaging Het
Tmem236 T A 2: 14,219,004 (GRCm38) H201Q probably benign Het
Top3b A G 16: 16,892,490 (GRCm38) E728G probably benign Het
Tshr C T 12: 91,537,635 (GRCm38) P449L probably damaging Het
Ugt2b36 C T 5: 87,091,914 (GRCm38) G204D possibly damaging Het
Vldlr A T 19: 27,230,223 (GRCm38) Q37L probably damaging Het
Zfat A T 15: 68,118,944 (GRCm38) I1031N probably benign 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
R6298:Pik3c2g UTSW 6 139,626,563 (GRCm38) missense probably damaging 1.00
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
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'- TGATCAGCTGGTGGAAGAGATC -3'
(R):5'- GGGAGATTGCCTTCATGTTCTC -3'

Sequencing Primer
(F):5'- TAAGACTCCACTGTCTGAGAGTG -3'
(R):5'- CATGTTCTCCACAGTAGTTATGATG -3'
Posted On 2022-09-12