Incidental Mutation 'IGL02182:Pik3cg'
ID 283284
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3cg
Ensembl Gene ENSMUSG00000020573
Gene Name phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
Synonyms PI3K, 5830428L06Rik, p110gamma, PI(3)Kgamma, PI3Kgamma
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02182
Quality Score
Status
Chromosome 12
Chromosomal Location 32223472-32258658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32255272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 238 (D238E)
Ref Sequence ENSEMBL: ENSMUSP00000151400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053215] [ENSMUST00000085469] [ENSMUST00000156904] [ENSMUST00000217915] [ENSMUST00000220366]
AlphaFold Q9JHG7
Predicted Effect possibly damaging
Transcript: ENSMUST00000053215
AA Change: D238E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: D238E

DomainStartEndE-ValueType
PI3K_rbd 203 312 3.56e-43 SMART
PI3K_C2 349 452 1.15e-28 SMART
PI3Ka 541 733 4.41e-89 SMART
PI3Kc 829 1094 3.9e-131 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000085469
AA Change: D238E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: D238E

DomainStartEndE-ValueType
PI3K_rbd 203 312 3.56e-43 SMART
PI3K_C2 349 452 1.15e-28 SMART
PI3Ka 541 733 4.41e-89 SMART
PI3Kc 829 1094 3.9e-131 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126814
Predicted Effect possibly damaging
Transcript: ENSMUST00000156904
AA Change: D238E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: D238E

DomainStartEndE-ValueType
PI3K_rbd 203 312 3.56e-43 SMART
PI3K_C2 349 452 1.15e-28 SMART
PI3Ka 541 733 4.41e-89 SMART
PI3Kc 829 1094 3.9e-131 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217915
AA Change: D238E

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220366
AA Change: D238E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display defects in thymocyte development, T cell activation, and neutrophil migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,790 (GRCm39) N285I probably benign Het
Adprh T C 16: 38,267,838 (GRCm39) H149R probably benign Het
Ahctf1 A G 1: 179,580,643 (GRCm39) V1853A probably benign Het
Ank1 T C 8: 23,603,868 (GRCm39) V905A possibly damaging Het
Atp10b T G 11: 43,139,774 (GRCm39) L1234R probably damaging Het
Bco1 G A 8: 117,859,805 (GRCm39) A503T probably damaging Het
Clxn T A 16: 14,738,659 (GRCm39) D163E probably damaging Het
Cpz T A 5: 35,675,066 (GRCm39) Y61F probably damaging Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dtd2 A G 12: 52,046,492 (GRCm39) S116P probably benign Het
Eml5 T C 12: 98,768,581 (GRCm39) D1498G probably damaging Het
Fat4 T C 3: 38,944,695 (GRCm39) V1196A probably damaging Het
Gm15557 T C 2: 155,783,737 (GRCm39) D405G probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mfsd11 T A 11: 116,764,740 (GRCm39) V388E possibly damaging Het
Ms4a20 A T 19: 11,074,436 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,075 (GRCm39) T160A probably benign Het
Or52b4 A G 7: 102,184,775 (GRCm39) I274V probably benign Het
Plcb3 T C 19: 6,946,988 (GRCm39) H9R probably benign Het
Ppp3cc A C 14: 70,462,473 (GRCm39) V388G probably benign Het
Ranbp2 T A 10: 58,321,582 (GRCm39) C2626* probably null Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scarb2 C T 5: 92,601,913 (GRCm39) S327N probably damaging Het
Secisbp2l T A 2: 125,589,497 (GRCm39) I684F probably damaging Het
Slc39a6 T C 18: 24,734,347 (GRCm39) D114G probably damaging Het
Smap1 T A 1: 23,898,180 (GRCm39) E85D probably damaging Het
Tas2r121 T A 6: 132,677,133 (GRCm39) I280F probably damaging Het
Uhrf2 T C 19: 30,016,609 (GRCm39) V86A probably benign Het
Vip A T 10: 5,593,561 (GRCm39) Y91F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp618 G A 4: 63,013,798 (GRCm39) probably benign Het
Other mutations in Pik3cg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Pik3cg APN 12 32,255,148 (GRCm39) missense probably damaging 1.00
IGL02273:Pik3cg APN 12 32,226,809 (GRCm39) missense probably damaging 1.00
IGL02312:Pik3cg APN 12 32,244,820 (GRCm39) missense possibly damaging 0.55
IGL02752:Pik3cg APN 12 32,254,262 (GRCm39) missense probably damaging 1.00
IGL03107:Pik3cg APN 12 32,250,594 (GRCm39) missense probably damaging 1.00
IGL03139:Pik3cg APN 12 32,242,222 (GRCm39) missense probably damaging 1.00
IGL03267:Pik3cg APN 12 32,255,307 (GRCm39) missense possibly damaging 0.94
IGL03367:Pik3cg APN 12 32,242,120 (GRCm39) missense probably benign 0.01
PIT4283001:Pik3cg UTSW 12 32,255,864 (GRCm39) missense probably damaging 1.00
PIT4472001:Pik3cg UTSW 12 32,254,983 (GRCm39) missense probably damaging 0.99
PIT4514001:Pik3cg UTSW 12 32,254,902 (GRCm39) missense probably damaging 1.00
R0112:Pik3cg UTSW 12 32,245,714 (GRCm39) splice site probably benign
R0145:Pik3cg UTSW 12 32,254,321 (GRCm39) missense probably benign 0.20
R0279:Pik3cg UTSW 12 32,254,790 (GRCm39) missense probably damaging 1.00
R0471:Pik3cg UTSW 12 32,244,770 (GRCm39) missense probably damaging 0.99
R0494:Pik3cg UTSW 12 32,254,545 (GRCm39) missense possibly damaging 0.84
R0573:Pik3cg UTSW 12 32,247,196 (GRCm39) missense probably damaging 1.00
R0631:Pik3cg UTSW 12 32,255,202 (GRCm39) missense probably benign
R0699:Pik3cg UTSW 12 32,247,341 (GRCm39) splice site probably benign
R0826:Pik3cg UTSW 12 32,245,672 (GRCm39) missense possibly damaging 0.78
R1076:Pik3cg UTSW 12 32,245,713 (GRCm39) splice site probably benign
R1101:Pik3cg UTSW 12 32,245,645 (GRCm39) missense probably null 0.98
R1459:Pik3cg UTSW 12 32,254,983 (GRCm39) missense probably damaging 0.99
R1625:Pik3cg UTSW 12 32,244,741 (GRCm39) missense probably damaging 1.00
R1971:Pik3cg UTSW 12 32,242,152 (GRCm39) missense probably damaging 1.00
R1992:Pik3cg UTSW 12 32,254,024 (GRCm39) missense possibly damaging 0.83
R2109:Pik3cg UTSW 12 32,243,709 (GRCm39) missense possibly damaging 0.75
R2319:Pik3cg UTSW 12 32,226,735 (GRCm39) missense probably damaging 0.99
R3421:Pik3cg UTSW 12 32,254,738 (GRCm39) missense probably damaging 1.00
R3422:Pik3cg UTSW 12 32,254,738 (GRCm39) missense probably damaging 1.00
R3740:Pik3cg UTSW 12 32,255,223 (GRCm39) missense probably damaging 1.00
R3777:Pik3cg UTSW 12 32,244,708 (GRCm39) missense probably damaging 0.98
R4300:Pik3cg UTSW 12 32,226,671 (GRCm39) missense probably damaging 1.00
R4395:Pik3cg UTSW 12 32,254,091 (GRCm39) missense probably damaging 1.00
R4725:Pik3cg UTSW 12 32,243,596 (GRCm39) critical splice donor site probably null
R4785:Pik3cg UTSW 12 32,255,198 (GRCm39) missense probably damaging 0.97
R4809:Pik3cg UTSW 12 32,254,080 (GRCm39) missense possibly damaging 0.46
R4981:Pik3cg UTSW 12 32,254,103 (GRCm39) missense possibly damaging 0.77
R5033:Pik3cg UTSW 12 32,249,195 (GRCm39) splice site probably null
R5161:Pik3cg UTSW 12 32,254,977 (GRCm39) missense possibly damaging 0.92
R5806:Pik3cg UTSW 12 32,254,952 (GRCm39) missense possibly damaging 0.88
R6136:Pik3cg UTSW 12 32,254,358 (GRCm39) missense probably benign 0.00
R6746:Pik3cg UTSW 12 32,244,757 (GRCm39) missense probably damaging 1.00
R6895:Pik3cg UTSW 12 32,254,346 (GRCm39) missense possibly damaging 0.87
R7000:Pik3cg UTSW 12 32,242,128 (GRCm39) missense probably damaging 1.00
R7089:Pik3cg UTSW 12 32,226,845 (GRCm39) missense probably benign 0.00
R7113:Pik3cg UTSW 12 32,255,666 (GRCm39) missense probably damaging 0.98
R7372:Pik3cg UTSW 12 32,247,196 (GRCm39) missense probably damaging 1.00
R7483:Pik3cg UTSW 12 32,245,647 (GRCm39) missense probably damaging 0.99
R7596:Pik3cg UTSW 12 32,254,740 (GRCm39) missense probably damaging 1.00
R7771:Pik3cg UTSW 12 32,254,013 (GRCm39) missense probably benign
R7910:Pik3cg UTSW 12 32,250,516 (GRCm39) missense probably benign 0.16
R7974:Pik3cg UTSW 12 32,254,031 (GRCm39) missense probably benign 0.00
R8084:Pik3cg UTSW 12 32,245,687 (GRCm39) missense probably benign 0.30
R8352:Pik3cg UTSW 12 32,243,639 (GRCm39) missense probably damaging 1.00
R8452:Pik3cg UTSW 12 32,243,639 (GRCm39) missense probably damaging 1.00
R8720:Pik3cg UTSW 12 32,243,688 (GRCm39) missense probably benign 0.09
R8757:Pik3cg UTSW 12 32,255,006 (GRCm39) missense probably damaging 1.00
R8911:Pik3cg UTSW 12 32,247,257 (GRCm39) missense probably benign
R9052:Pik3cg UTSW 12 32,245,708 (GRCm39) missense possibly damaging 0.91
R9166:Pik3cg UTSW 12 32,242,213 (GRCm39) missense probably damaging 1.00
R9209:Pik3cg UTSW 12 32,247,312 (GRCm39) missense probably damaging 0.99
R9709:Pik3cg UTSW 12 32,226,687 (GRCm39) missense probably benign 0.17
Z1176:Pik3cg UTSW 12 32,254,794 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16