Incidental Mutation 'R1907:Pik3c2g'
ID 214461
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 039926-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R1907 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 139587221-139969284 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 139844042 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 304 (K304Q)
Ref Sequence ENSEMBL: ENSMUSP00000151281 (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: K54Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084939
Gene: ENSMUSG00000030228
AA Change: K54Q

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 probably damaging
Transcript: ENSMUST00000111868
AA Change: K422Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: K422Q

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 noncoding transcript
Transcript: ENSMUST00000187069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187223
SMART Domains Protein: ENSMUSP00000140589
Gene: ENSMUSG00000030228

DomainStartEndE-ValueType
Pfam:PI3_PI4_kinase 123 226 3.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189374
SMART Domains Protein: ENSMUSP00000139763
Gene: ENSMUSG00000030228

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 noncoding transcript
Transcript: ENSMUST00000191013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206646
AA Change: K54Q
Predicted Effect probably damaging
Transcript: ENSMUST00000218528
AA Change: K304Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.1901 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency 98% (104/106)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C A 3: 122,069,012 (GRCm38) S206R probably damaging Het
Abcc6 G T 7: 46,014,169 (GRCm38) A357E probably benign Het
Abhd13 T A 8: 9,988,170 (GRCm38) C256S probably benign Het
Actrt3 A G 3: 30,598,567 (GRCm38) V126A probably damaging Het
Adgrv1 A G 13: 81,592,551 (GRCm38) probably benign Het
Alyref2 A G 1: 171,504,270 (GRCm38) D205G probably damaging Het
Amigo3 G A 9: 108,053,636 (GRCm38) R86Q probably benign Het
Ankrd50 G C 3: 38,454,052 (GRCm38) P1389A probably damaging Het
Aoah A G 13: 20,910,094 (GRCm38) D183G probably damaging Het
Arap3 A T 18: 37,996,671 (GRCm38) S146T probably benign Het
Atp2c2 T C 8: 119,749,876 (GRCm38) probably benign Het
Atp8b2 C T 3: 89,946,276 (GRCm38) V682M probably benign Het
Cacna1i T C 15: 80,375,264 (GRCm38) I1245T probably damaging Het
Card14 A G 11: 119,331,259 (GRCm38) N460S probably benign Het
Ceacam5 A G 7: 17,752,384 (GRCm38) D602G possibly damaging Het
Cecr2 T A 6: 120,761,160 (GRCm38) H921Q probably benign Het
Cyb5d1 T C 11: 69,394,740 (GRCm38) D115G probably benign Het
Dbp C T 7: 45,708,320 (GRCm38) T67I possibly damaging Het
Dennd5b C T 6: 149,041,576 (GRCm38) V601I probably benign Het
Dnah11 G A 12: 118,127,556 (GRCm38) A947V possibly damaging Het
Dpysl3 T A 18: 43,438,128 (GRCm38) D27V probably damaging Het
Drd1 A T 13: 54,053,252 (GRCm38) D307E possibly damaging Het
Dscaml1 G A 9: 45,740,480 (GRCm38) G277D probably damaging Het
Eif4g3 C T 4: 138,158,415 (GRCm38) R842W probably damaging Het
Enam C T 5: 88,504,622 (GRCm38) T1330I possibly damaging Het
Fabp6 T C 11: 43,596,167 (GRCm38) probably null Het
Fcsk A T 8: 110,893,378 (GRCm38) L289* probably null Het
Fhip1a T C 3: 85,672,633 (GRCm38) D755G probably benign Het
Fsip2 C T 2: 82,983,428 (GRCm38) P3364S possibly damaging Het
Gad1 C T 2: 70,579,138 (GRCm38) S191F possibly damaging Het
Gcm1 A C 9: 78,064,773 (GRCm38) N332T probably benign Het
Gin1 G A 1: 97,775,447 (GRCm38) probably benign Het
Gpr25 T C 1: 136,260,800 (GRCm38) D25G probably benign Het
Gstm4 T C 3: 108,041,277 (GRCm38) T172A probably benign Het
Hnrnpll A G 17: 80,035,329 (GRCm38) probably null Het
Il12rb2 T A 6: 67,295,286 (GRCm38) K339* probably null Het
Inpp1 A G 1: 52,789,670 (GRCm38) *397Q probably null Het
Kcp G T 6: 29,497,835 (GRCm38) probably benign Het
Kdm1b G A 13: 47,064,120 (GRCm38) V352I probably benign Het
Klhdc2 G T 12: 69,296,960 (GRCm38) probably benign Het
Krt75 T A 15: 101,573,366 (GRCm38) T156S possibly damaging Het
Lag3 T A 6: 124,909,487 (GRCm38) I168F possibly damaging Het
Lama4 T G 10: 39,072,758 (GRCm38) V839G probably benign Het
Lmtk2 G T 5: 144,175,110 (GRCm38) V883L probably benign Het
Lrrc37a C A 11: 103,457,156 (GRCm38) K2904N unknown Het
Macf1 A T 4: 123,372,399 (GRCm38) I4775N probably damaging Het
Map2k3 T G 11: 60,932,229 (GRCm38) S3A possibly damaging Het
Mast1 G A 8: 84,916,266 (GRCm38) R967C probably damaging Het
Mettl2 T G 11: 105,126,840 (GRCm38) S59A probably benign Het
Mtr G A 13: 12,225,532 (GRCm38) T530I probably damaging Het
Myo7b A T 18: 31,976,999 (GRCm38) C1137S possibly damaging Het
Nacad T A 11: 6,602,540 (GRCm38) H217L probably benign Het
Ncstn A T 1: 172,072,143 (GRCm38) V324E probably damaging Het
Ndufaf7 C A 17: 78,942,117 (GRCm38) H148N possibly damaging Het
Or10a49 T A 7: 108,868,498 (GRCm38) I219F possibly damaging Het
Or52a24 T A 7: 103,731,983 (GRCm38) I19N probably damaging Het
Or52n2b G A 7: 104,917,065 (GRCm38) T77I probably damaging Het
Or7g12 T C 9: 18,988,441 (GRCm38) I151T possibly damaging Het
Or8b12 T G 9: 37,746,433 (GRCm38) L100V probably benign Het
Or8k17 T C 2: 86,236,110 (GRCm38) K242E possibly damaging Het
Pcdh20 T C 14: 88,468,704 (GRCm38) I387V probably benign Het
Pclo A G 5: 14,678,511 (GRCm38) probably benign Het
Pcp2 G A 8: 3,624,904 (GRCm38) probably benign Het
Pde1a T A 2: 79,868,307 (GRCm38) D393V probably damaging Het
Pias4 T C 10: 81,154,363 (GRCm38) D421G possibly damaging Het
Pign T C 1: 105,638,215 (GRCm38) T362A possibly damaging Het
Pkd2 T A 5: 104,486,806 (GRCm38) W568R probably damaging Het
Pld2 T A 11: 70,544,184 (GRCm38) I306N probably damaging Het
Plppr3 T C 10: 79,874,069 (GRCm38) K9R probably damaging Het
Pramel11 T A 4: 143,895,491 (GRCm38) R431S possibly damaging Het
Psme4 T C 11: 30,810,922 (GRCm38) V397A probably damaging Het
Ptbp2 A T 3: 119,761,749 (GRCm38) S23R probably damaging Het
Ptpn13 A G 5: 103,580,709 (GRCm38) D2074G probably null Het
Rab34 T A 11: 78,191,255 (GRCm38) L166H probably damaging Het
Rabgap1l T A 1: 160,645,310 (GRCm38) R519S probably benign Het
Rasa1 A T 13: 85,226,572 (GRCm38) L218* probably null Het
Reln A G 5: 22,044,962 (GRCm38) probably null Het
Rer1 T C 4: 155,078,499 (GRCm38) D94G possibly damaging Het
Rhpn1 T C 15: 75,711,824 (GRCm38) V386A probably benign Het
Samd3 T A 10: 26,271,856 (GRCm38) C476* probably null Het
Sdk2 C T 11: 113,838,646 (GRCm38) silent Het
Sipa1l3 A G 7: 29,339,167 (GRCm38) S352P possibly damaging Het
Slc27a2 A G 2: 126,586,342 (GRCm38) Y549C probably benign Het
Slc7a9 A G 7: 35,449,854 (GRCm38) T7A probably benign Het
Slco4c1 C T 1: 96,842,499 (GRCm38) G280D probably damaging Het
Snx19 T A 9: 30,433,576 (GRCm38) V657E probably damaging Het
Spata31d1c A G 13: 65,035,876 (GRCm38) M411V probably benign Het
Spice1 T A 16: 44,357,830 (GRCm38) L72* probably null Het
Stard9 G T 2: 120,713,812 (GRCm38) V4471L probably damaging Het
Syt14 A G 1: 192,901,835 (GRCm38) L707P probably damaging Het
Tab1 T C 15: 80,153,668 (GRCm38) I234T probably damaging Het
Tas2r107 T C 6: 131,659,988 (GRCm38) M33V probably benign Het
Tbx4 T A 11: 85,914,523 (GRCm38) S479R possibly damaging Het
Tssk5 C T 15: 76,372,893 (GRCm38) R263Q probably benign Het
Ttn T C 2: 76,870,856 (GRCm38) probably benign Het
Ugt2b5 T A 5: 87,139,630 (GRCm38) Q226L probably benign Het
Ush2a C T 1: 188,715,064 (GRCm38) S2483L probably benign Het
Wdr95 A G 5: 149,552,426 (GRCm38) Y63C probably damaging Het
Xirp2 A G 2: 67,516,356 (GRCm38) I2980M probably damaging Het
Yeats4 G A 10: 117,215,731 (GRCm38) T207I probably benign Het
Ythdc1 A G 5: 86,830,630 (GRCm38) R561G probably damaging Het
Zbtb14 G A 17: 69,387,390 (GRCm38) E28K possibly damaging Het
Zfp931 A T 2: 178,069,891 (GRCm38) L21Q probably damaging Het
Zyg11b A C 4: 108,255,226 (GRCm38) M415R 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
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
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'- CAGACTTATGGTTCCTGCTGGG -3'
(R):5'- CCAGTCATTTGTGTTCCAGTG -3'

Sequencing Primer
(F):5'- GGTGGTTTAAGAAACAAAACCTCC -3'
(R):5'- CATTTGTGTTCCAGTGGTTGAGAC -3'
Posted On 2014-07-14