Incidental Mutation 'R5072:Pik3c2g'
ID 388871
Institutional Source Beutler Lab
Gene Symbol Pik3c2g
Ensembl Gene ENSMUSG00000030228
Gene Name phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5072 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139665873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 65 (C65S)
Ref Sequence ENSEMBL: ENSMUSP00000107499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111868]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000111868
AA Change: C65S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: C65S

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.9%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,414 (GRCm39) H104Q probably benign Het
4933405L10Rik A G 8: 106,436,201 (GRCm39) T158A possibly damaging Het
A1cf T C 19: 31,895,385 (GRCm39) M156T probably benign Het
Abca15 A G 7: 120,006,198 (GRCm39) Y1620C probably damaging Het
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Ablim1 A G 19: 57,062,285 (GRCm39) probably null Het
Acox2 A T 14: 8,241,374 (GRCm38) Y579* probably null Het
Adnp A T 2: 168,024,921 (GRCm39) S791R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Alx3 G T 3: 107,512,109 (GRCm39) S249I possibly damaging Het
Apob A G 12: 8,058,714 (GRCm39) T2366A probably benign Het
Apool C T X: 111,259,540 (GRCm39) Q60* probably null Het
Arid4a T C 12: 71,091,853 (GRCm39) V213A probably benign Het
Atp7a A G X: 105,153,374 (GRCm39) D1092G probably benign Het
Bpifa5 A T 2: 154,007,892 (GRCm39) E178V probably damaging Het
Car4 G A 11: 84,854,193 (GRCm39) E47K probably benign Het
Catsper1 T C 19: 5,390,074 (GRCm39) probably null Het
Ccdc63 T A 5: 122,259,118 (GRCm39) Q260L probably benign Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Ces5a C T 8: 94,261,296 (GRCm39) V44M probably damaging Het
Cltc A G 11: 86,608,794 (GRCm39) I741T possibly damaging Het
Cnst C A 1: 179,450,451 (GRCm39) D638E possibly damaging Het
Col13a1 A G 10: 61,709,797 (GRCm39) silent Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Ddx20 A G 3: 105,590,191 (GRCm39) probably null Het
Dnaja3 A T 16: 4,514,289 (GRCm39) T274S probably damaging Het
Dot1l A G 10: 80,620,480 (GRCm39) D514G possibly damaging Het
Dysf A T 6: 84,114,254 (GRCm39) K1226M probably damaging Het
Epha4 T C 1: 77,421,639 (GRCm39) Y281C probably damaging Het
Fbxo42 T C 4: 140,926,256 (GRCm39) W313R probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gprasp2 C T X: 134,743,346 (GRCm39) T235I possibly damaging Het
Gtf2ird1 G T 5: 134,419,787 (GRCm39) probably null Het
H2ab3 T C X: 119,222,543 (GRCm39) T84A probably damaging Het
H2ac20 C T 3: 96,128,099 (GRCm39) probably benign Het
Hal A T 10: 93,349,904 (GRCm39) I555F probably damaging Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Homo
Hspg2 T C 4: 137,267,541 (GRCm39) S2050P probably damaging Het
Irgc T C 7: 24,132,196 (GRCm39) D207G probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Kiss1r C A 10: 79,754,596 (GRCm39) S30* probably null Het
Krtap1-4 C G 11: 99,474,442 (GRCm39) probably benign Het
Lrrfip2 A G 9: 111,028,872 (GRCm39) E365G probably damaging Het
Ly75 A G 2: 60,206,307 (GRCm39) Y121H probably damaging Het
Man2a1 G A 17: 64,966,074 (GRCm39) probably null Het
Mllt10 C A 2: 18,114,685 (GRCm39) H52N possibly damaging Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Myo1a T C 10: 127,543,288 (GRCm39) probably null Het
Myo3b C A 2: 69,925,593 (GRCm39) T20K possibly damaging Het
Nipsnap2 A T 5: 129,816,644 (GRCm39) K62N probably damaging Het
Nr1i3 C T 1: 171,044,382 (GRCm39) T169I probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Oprm1 A G 10: 6,782,550 (GRCm39) S398G probably benign Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or51k1 T A 7: 103,661,325 (GRCm39) R195W probably damaging Het
Or6k2 A T 1: 173,986,527 (GRCm39) I63F probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Pebp1 G T 5: 117,421,475 (GRCm39) D156E probably benign Het
Pilra A G 5: 137,833,674 (GRCm39) F131L probably damaging Het
Pitrm1 T C 13: 6,603,226 (GRCm39) F91S probably damaging Het
Ppl A T 16: 4,906,742 (GRCm39) S1184R probably benign Het
Prmt2 C T 10: 76,058,390 (GRCm39) V140I probably damaging Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Pygb C T 2: 150,643,498 (GRCm39) T95M probably damaging Het
Rassf9 A G 10: 102,381,766 (GRCm39) K383E probably damaging Het
Rfk T A 19: 17,375,963 (GRCm39) F86I possibly damaging Het
Rims2 T C 15: 39,325,986 (GRCm39) F773L probably benign Het
Sdcbp A G 4: 6,393,019 (GRCm39) I218V probably benign Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Snrpd3 G T 10: 75,355,227 (GRCm39) C20F possibly damaging Het
Spen A T 4: 141,249,613 (GRCm39) S58R unknown Het
St3gal2 T C 8: 111,684,350 (GRCm39) C3R possibly damaging Het
Stab2 A T 10: 86,699,422 (GRCm39) I481N probably benign Het
Stat5b T C 11: 100,699,361 (GRCm39) probably null Het
Tmco3 G T 8: 13,342,860 (GRCm39) E199* probably null Het
Tmem26 A G 10: 68,611,178 (GRCm39) T216A probably damaging Het
Ttn A G 2: 76,550,822 (GRCm39) probably null Het
Ttn A T 2: 76,602,709 (GRCm39) probably null Het
Ttn C T 2: 76,576,746 (GRCm39) V24716I probably damaging Het
Uba5 T C 9: 103,931,626 (GRCm39) E202G probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Utrn A T 10: 12,259,948 (GRCm39) probably null Het
Vmn2r111 C A 17: 22,767,022 (GRCm39) C825F probably damaging Het
Vmn2r113 T A 17: 23,177,329 (GRCm39) C704* probably null Het
Vmn2r56 A G 7: 12,427,983 (GRCm39) I761T probably benign Het
Vmn2r98 C T 17: 19,286,306 (GRCm39) T268I probably benign Het
Zfp263 A G 16: 3,564,704 (GRCm39) R240G possibly damaging Het
Zfp473 T A 7: 44,381,943 (GRCm39) I797F probably damaging Het
Zfp68 A T 5: 138,604,579 (GRCm39) D543E probably benign 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
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
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'- TGGCTTATGAGAAATACGACCCTTC -3'
(R):5'- AATGAGCCACAGTCTGTAGTC -3'

Sequencing Primer
(F):5'- TATGAGAAATACGACCCTTCACAGAC -3'
(R):5'- TGGTGAAAGGAAAATTAATACTCACC -3'
Posted On 2016-06-06