Incidental Mutation 'R0471:Pik3cg'
ID 46778
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 038671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0471 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 32223472-32258658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32244770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 895 (T895S)
Ref Sequence ENSEMBL: ENSMUSP00000151400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053215] [ENSMUST00000085469] [ENSMUST00000156904] [ENSMUST00000217915] [ENSMUST00000220366]
AlphaFold Q9JHG7
Predicted Effect probably damaging
Transcript: ENSMUST00000053215
AA Change: T895S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: T895S

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 damaging
Transcript: ENSMUST00000085469
AA Change: T895S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: T895S

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 damaging
Transcript: ENSMUST00000156904
AA Change: T895S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: T895S

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: T895S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably damaging
Transcript: ENSMUST00000220366
AA Change: T895S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.0938 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,075,891 (GRCm39) probably null Het
Adam33 C A 2: 130,896,399 (GRCm39) G437C probably damaging Het
Aldh1a1 T A 19: 20,579,377 (GRCm39) M1K probably null Het
Amotl2 C A 9: 102,597,718 (GRCm39) P126Q probably damaging Het
Ap1g1 T A 8: 110,580,275 (GRCm39) M576K possibly damaging Het
Apob C A 12: 8,040,406 (GRCm39) A581E probably damaging Het
Asb7 A T 7: 66,328,907 (GRCm39) D44E probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C9orf72 G A 4: 35,193,257 (GRCm39) T232I probably benign Het
Ccdc65 A T 15: 98,615,348 (GRCm39) H118L probably benign Het
Cdc25b A G 2: 131,039,204 (GRCm39) E523G probably damaging Het
Cdk11b A G 4: 155,731,999 (GRCm39) probably benign Het
Cilk1 G T 9: 78,062,799 (GRCm39) probably null Het
Clec1b A G 6: 129,378,570 (GRCm39) probably benign Het
Cntrl A G 2: 35,017,392 (GRCm39) T400A probably benign Het
Cpne4 T G 9: 104,899,481 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,419,985 (GRCm39) R249* probably null Het
Dock2 T C 11: 34,579,380 (GRCm39) I678V probably benign Het
Dqx1 C T 6: 83,036,407 (GRCm39) probably benign Het
Dsp A T 13: 38,377,326 (GRCm39) K1704* probably null Het
Eif2b2 T C 12: 85,266,957 (GRCm39) F121S probably benign Het
Ephx4 T C 5: 107,561,379 (GRCm39) V69A possibly damaging Het
Epn2 T C 11: 61,426,134 (GRCm39) Q281R probably damaging Het
Fgf3 A C 7: 144,396,547 (GRCm39) D187A probably damaging Het
Galnt18 C A 7: 111,378,506 (GRCm39) probably benign Het
Gm4871 C T 5: 144,968,402 (GRCm39) probably benign Het
Inpp4b T C 8: 82,768,528 (GRCm39) I679T possibly damaging Het
Itpkb A G 1: 180,245,820 (GRCm39) E779G probably damaging Het
Itsn1 G A 16: 91,696,477 (GRCm39) V27M probably damaging Het
Lrp2 C A 2: 69,355,578 (GRCm39) R422L probably damaging Het
Mmp25 G A 17: 23,858,858 (GRCm39) A231V possibly damaging Het
Mprip T C 11: 59,650,561 (GRCm39) S1422P probably damaging Het
Mro A T 18: 74,009,860 (GRCm39) Q176L probably benign Het
Mrpl12 A G 11: 120,379,229 (GRCm39) E192G probably damaging Het
Myo5b A T 18: 74,862,025 (GRCm39) probably benign Het
Ncam2 G T 16: 80,997,772 (GRCm39) probably benign Het
Nip7 T C 8: 107,783,949 (GRCm39) L63P probably damaging Het
Nsd3 T C 8: 26,138,450 (GRCm39) probably benign Het
Nup98 A T 7: 101,788,004 (GRCm39) V1022D probably benign Het
Or2y1e T A 11: 49,218,744 (GRCm39) C169S probably damaging Het
Or5d43 A G 2: 88,104,559 (GRCm39) V278A possibly damaging Het
Or5h22 A G 16: 58,894,633 (GRCm39) I270T probably benign Het
Or7g28 A T 9: 19,272,177 (GRCm39) L158* probably null Het
P4ha2 T C 11: 54,008,434 (GRCm39) Y214H possibly damaging Het
Pacrg A T 17: 10,795,407 (GRCm39) F184L possibly damaging Het
Parpbp T A 10: 87,929,569 (GRCm39) R426S probably damaging Het
Pcdhb5 T A 18: 37,454,359 (GRCm39) Y246* probably null Het
Prkch T C 12: 73,738,426 (GRCm39) Y178H probably benign Het
Rusc2 G T 4: 43,425,486 (GRCm39) R1197L probably damaging Het
Svep1 T C 4: 58,054,700 (GRCm39) E3296G possibly damaging Het
Svs3a A G 2: 164,131,801 (GRCm39) K123R probably benign Het
Sycp2l A G 13: 41,304,006 (GRCm39) probably null Het
Syne3 T C 12: 104,909,685 (GRCm39) H717R probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Trim24 T G 6: 37,892,130 (GRCm39) V151G possibly damaging Het
Trim33 T C 3: 103,234,217 (GRCm39) V56A possibly damaging Het
Trim67 C A 8: 125,521,397 (GRCm39) T253K probably benign Het
Trip12 T C 1: 84,703,928 (GRCm39) E698G probably damaging Het
Tspan14 T C 14: 40,637,353 (GRCm39) D145G probably damaging Het
Ushbp1 G A 8: 71,847,021 (GRCm39) Q204* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r75 G T 7: 85,814,721 (GRCm39) N257K probably benign Het
Washc4 T C 10: 83,394,598 (GRCm39) probably benign Het
Zc3h7b G A 15: 81,666,169 (GRCm39) D560N probably damaging Het
Zscan21 T C 5: 138,123,402 (GRCm39) V27A probably benign Het
Zzef1 A C 11: 72,813,937 (GRCm39) E2842A 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
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
Predicted Primers PCR Primer
(F):5'- AGCCTGTTAGACCAGGAACCACTAC -3'
(R):5'- TTGTCACTTCCCCAAAGCAGCC -3'

Sequencing Primer
(F):5'- TACTGTCCAACAGAAGACAAGCTG -3'
(R):5'- ACGATTTCTGGAGCCTTGC -3'
Posted On 2013-06-11