Incidental Mutation 'R5161:Pik3cg'
ID 397009
Institutional Source Beutler Lab
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
MMRRC Submission 042743-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5161 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 32223472-32258658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32254977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 337 (E337K)
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: E337K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: E337K

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: E337K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: E337K

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: E337K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: E337K

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: ENSMUST00000217915
AA Change: E337K

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220366
AA Change: E337K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1103 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,055,344 (GRCm39) E27* probably null Het
4930407I10Rik G T 15: 81,947,542 (GRCm39) E480* probably null Het
Acad11 T C 9: 104,001,227 (GRCm39) I591T probably benign Het
Acsbg3 A T 17: 57,189,888 (GRCm39) I305F possibly damaging Het
Adamts13 G A 2: 26,883,020 (GRCm39) E857K probably benign Het
Atf2 A C 2: 73,660,134 (GRCm39) probably null Het
Cass4 C A 2: 172,274,244 (GRCm39) A675E probably damaging Het
Coa8 C A 12: 111,689,208 (GRCm39) Q97K possibly damaging Het
Ctsd A T 7: 141,930,881 (GRCm39) L283Q probably damaging Het
Ddrgk1 A T 2: 130,505,296 (GRCm39) M1K probably null Het
Dipk1b C T 2: 26,526,260 (GRCm39) T398M possibly damaging Het
Dock1 G A 7: 134,335,791 (GRCm39) A62T possibly damaging Het
Ehmt1 T C 2: 24,748,207 (GRCm39) D407G possibly damaging Het
Eif1ad17 T A 12: 87,978,887 (GRCm39) D90E possibly damaging Het
Eml6 A G 11: 29,974,467 (GRCm39) V37A probably damaging Het
Fam20a C T 11: 109,564,196 (GRCm39) R519Q probably benign Het
Fat1 A G 8: 45,405,549 (GRCm39) T767A probably benign Het
Fbxl8 A T 8: 105,995,538 (GRCm39) H350L possibly damaging Het
Gm10226 A C 17: 21,910,834 (GRCm39) Q23P possibly damaging Het
Gm38706 A T 6: 130,459,868 (GRCm39) noncoding transcript Het
Gpatch2l G T 12: 86,313,950 (GRCm39) R362L probably benign Het
Hyal5 A T 6: 24,891,602 (GRCm39) D472V probably benign Het
Ighv5-9-1 T C 12: 113,699,777 (GRCm39) S102G possibly damaging Het
Itpripl1 A C 2: 126,983,777 (GRCm39) L115R probably damaging Het
Itsn1 G A 16: 91,705,726 (GRCm39) C169Y possibly damaging Het
Krt88 T A 15: 101,348,349 (GRCm39) C12S probably benign Het
Macroh2a1 T C 13: 56,237,594 (GRCm39) D222G probably benign Het
Muc4 G A 16: 32,582,895 (GRCm39) V2557M probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nbeal2 G T 9: 110,458,936 (GRCm39) Q1996K probably benign Het
Obscn T C 11: 58,919,430 (GRCm39) E6205G probably damaging Het
Obscn A G 11: 58,955,136 (GRCm39) Y3926H possibly damaging Het
Or14a259 T C 7: 86,013,546 (GRCm39) probably null Het
Or5an10 A T 19: 12,276,153 (GRCm39) S114R probably damaging Het
P2ry2 A T 7: 100,648,136 (GRCm39) Y56* probably null Het
Pate10 T A 9: 35,652,884 (GRCm39) L42* probably null Het
Pde1a T C 2: 79,708,488 (GRCm39) N242S probably null Het
Plxna2 A G 1: 194,433,712 (GRCm39) N587S probably benign Het
Pmpca T C 2: 26,285,183 (GRCm39) probably null Het
Ptpn4 C T 1: 119,635,593 (GRCm39) W370* probably null Het
Qki A T 17: 10,434,419 (GRCm39) probably null Het
Rapgef3 A G 15: 97,655,606 (GRCm39) V427A probably damaging Het
Rbbp8 T G 18: 11,855,171 (GRCm39) D465E probably damaging Het
Scn2a A G 2: 65,594,935 (GRCm39) K1928R probably benign Het
Slc5a5 A C 8: 71,341,492 (GRCm39) C346G probably damaging Het
Spata2l A G 8: 123,962,288 (GRCm39) L91P probably damaging Het
Syt3 C A 7: 44,045,439 (GRCm39) H560N possibly damaging Het
Timm23 G A 14: 31,915,882 (GRCm39) P63L probably damaging Het
Tmem191 T C 16: 17,094,743 (GRCm39) S108P possibly damaging Het
Ttc21b A G 2: 66,059,367 (GRCm39) C545R probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp17ld A T 7: 102,899,579 (GRCm39) L451* probably null Het
Vmn1r15 T C 6: 57,235,497 (GRCm39) Y122H probably benign Het
Vxn G T 1: 9,692,902 (GRCm39) G145* probably null Het
Zfp1002 A T 2: 150,097,135 (GRCm39) I98K probably damaging Het
Other mutations in Pik3cg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Pik3cg APN 12 32,255,148 (GRCm39) missense probably damaging 1.00
IGL02182:Pik3cg APN 12 32,255,272 (GRCm39) missense possibly damaging 0.90
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
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
Predicted Primers PCR Primer
(F):5'- AGAGTACCTCTTCTGCGAAGGG -3'
(R):5'- TTTGTGGCCGCGATGAGTAC -3'

Sequencing Primer
(F):5'- GTTCTCCTTTGGCAGAGGAC -3'
(R):5'- CGCGATGAGTACCTGGTG -3'
Posted On 2016-06-21