Incidental Mutation 'R4809:Pik3cg'
ID 370934
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 042428-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4809 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 32223472-32258658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32254080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 636 (S636T)
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: S636T

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: S636T

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: S636T

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: S636T

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: S636T

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: S636T

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: S636T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220366
AA Change: S636T

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0760 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (96/100)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,384,588 (GRCm39) V459A probably benign Het
Abca12 C T 1: 71,318,015 (GRCm39) A1840T probably benign Het
Abhd6 T G 14: 8,039,771 (GRCm38) M1R probably null Het
Abl1 T C 2: 31,690,254 (GRCm39) L572P probably damaging Het
Adamts2 C A 11: 50,694,517 (GRCm39) S1101R probably benign Het
Adgra2 G A 8: 27,600,507 (GRCm39) W200* probably null Het
AI661453 C A 17: 47,778,112 (GRCm39) probably benign Het
Aldh1l2 A G 10: 83,342,496 (GRCm39) F438S probably damaging Het
Ankrd49 G A 9: 14,692,510 (GRCm39) T218I possibly damaging Het
Ano7 T C 1: 93,322,288 (GRCm39) F410L probably benign Het
Aox4 T A 1: 58,305,808 (GRCm39) F1271I probably damaging Het
Aqr T C 2: 114,005,695 (GRCm39) probably benign Het
Arhgap42 A G 9: 9,180,118 (GRCm39) S54P probably damaging Het
Aunip C A 4: 134,238,450 (GRCm39) D16E possibly damaging Het
Btbd7 A G 12: 102,760,003 (GRCm39) probably null Het
Cabp4 T C 19: 4,189,290 (GRCm39) H89R probably benign Het
Ccni AAA AAACTAA 5: 93,335,429 (GRCm39) probably benign Het
Chfr C T 5: 110,306,700 (GRCm39) H410Y probably damaging Het
Churc1 C A 12: 76,829,671 (GRCm39) L111M probably damaging Het
Clasp1 C T 1: 118,388,980 (GRCm39) T113I probably benign Het
Col12a1 T A 9: 79,600,849 (GRCm39) Q745L probably benign Het
Col20a1 T C 2: 180,640,454 (GRCm39) L537P probably damaging Het
Creb5 A T 6: 53,587,411 (GRCm39) E47V probably null Het
Csnk1d A T 11: 120,854,668 (GRCm39) probably benign Het
Cts6 A T 13: 61,349,995 (GRCm39) W29R probably damaging Het
Dbt T A 3: 116,339,992 (GRCm39) I420N probably damaging Het
Det1 C A 7: 78,493,555 (GRCm39) D150Y probably damaging Het
Dlk2 A G 17: 46,609,940 (GRCm39) probably null Het
Dnmt3a A T 12: 3,950,352 (GRCm39) I639F probably damaging Het
Dock9 A T 14: 121,784,008 (GRCm39) Y1989N probably benign Het
Dsg4 A T 18: 20,599,678 (GRCm39) T765S possibly damaging Het
Entrep2 G A 7: 64,426,488 (GRCm39) T159I probably damaging Het
Epha5 C T 5: 84,253,750 (GRCm39) D548N possibly damaging Het
Fam227b T A 2: 125,958,045 (GRCm39) Y240F possibly damaging Het
Fbxw21 C T 9: 108,972,458 (GRCm39) V395I probably damaging Het
Fn1 C A 1: 71,691,959 (GRCm39) probably benign Het
Fpr-rs3 A T 17: 20,844,683 (GRCm39) S153T probably benign Het
Frem2 A G 3: 53,561,316 (GRCm39) F1064L probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gjd2 C T 2: 113,842,022 (GRCm39) G152R probably damaging Het
Gpr75 T C 11: 30,842,154 (GRCm39) I353T possibly damaging Het
Grb7 T C 11: 98,342,262 (GRCm39) V145A possibly damaging Het
Igkv4-73 G A 6: 69,174,807 (GRCm39) R40W unknown Het
Kif1c C T 11: 70,617,183 (GRCm39) A839V probably benign Het
Krt31 G A 11: 99,940,748 (GRCm39) A125V possibly damaging Het
Lamb1 A G 12: 31,328,525 (GRCm39) Y163C probably damaging Het
Mars1 G T 10: 127,136,084 (GRCm39) T535K probably damaging Het
Mdc1 T C 17: 36,159,993 (GRCm39) probably null Het
Micos10 C G 4: 138,858,268 (GRCm39) W10S probably damaging Het
Micu1 C T 10: 59,576,644 (GRCm39) H167Y probably benign Het
Mrgprb1 C T 7: 48,097,739 (GRCm39) V58I possibly damaging Het
Ncoa7 T A 10: 30,647,758 (GRCm39) E6V possibly damaging Het
Nectin3 A C 16: 46,268,523 (GRCm39) probably benign Het
Or13a18 A G 7: 140,190,987 (GRCm39) K295E probably damaging Het
Or4k44 C T 2: 111,367,956 (GRCm39) C226Y probably benign Het
Or52ab7 T A 7: 102,977,730 (GRCm39) Y12* probably null Het
Or8k38 T A 2: 86,488,029 (GRCm39) M258L possibly damaging Het
Pex16 T C 2: 92,206,983 (GRCm39) S54P probably damaging Het
Plin5 A G 17: 56,423,855 (GRCm39) S27P probably benign Het
Ptch1 A T 13: 63,661,522 (GRCm39) D1068E probably damaging Het
Ptprq T C 10: 107,399,036 (GRCm39) T1960A probably damaging Het
Rap1gap2 T C 11: 74,298,800 (GRCm39) probably benign Het
Rcc2 G A 4: 140,444,353 (GRCm39) R348Q probably damaging Het
Rhbdd3 C A 11: 5,055,949 (GRCm39) A377D probably damaging Het
Rpl7 T G 1: 16,172,189 (GRCm39) probably benign Het
Scn11a G T 9: 119,648,936 (GRCm39) D42E probably benign Het
Scube3 C T 17: 28,384,147 (GRCm39) R549W probably damaging Het
Sil1 A T 18: 35,458,428 (GRCm39) M189K probably damaging Het
Slc39a6 G A 18: 24,718,531 (GRCm39) Q225* probably null Het
Slc7a15 A T 12: 8,589,002 (GRCm39) C182S probably benign Het
Spata21 G A 4: 140,824,431 (GRCm39) probably null Het
Stim2 T C 5: 54,267,955 (GRCm39) V417A probably damaging Het
Szt2 T C 4: 118,246,182 (GRCm39) D993G probably damaging Het
Tet3 A G 6: 83,379,928 (GRCm39) S747P probably benign Het
Tmem86a C G 7: 46,702,678 (GRCm39) S34R possibly damaging Het
Top2b T A 14: 16,383,125 (GRCm38) S38T probably benign Het
Trim33 A T 3: 103,236,572 (GRCm39) T561S possibly damaging Het
Ttc39a C T 4: 109,273,218 (GRCm39) Q25* probably null Het
Urb1 A G 16: 90,556,730 (GRCm39) I1816T possibly damaging Het
Usp24 T C 4: 106,270,873 (GRCm39) probably null Het
Usp36 A C 11: 118,153,896 (GRCm39) L840R probably damaging Het
Usp50 C A 2: 126,619,773 (GRCm39) probably benign Het
Vangl2 A G 1: 171,837,230 (GRCm39) V193A possibly damaging Het
Vmn1r62 T A 7: 5,678,866 (GRCm39) H182Q probably benign Het
Vmn2r124 A T 17: 18,294,007 (GRCm39) Y698F probably benign Het
Wls C T 3: 159,603,082 (GRCm39) T165I probably benign Het
Zfp808 G T 13: 62,319,106 (GRCm39) E112* probably null 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
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'- TTTGACGTGGCTTCATCGGC -3'
(R):5'- TTTCGATATGAAAGCCTGAAGC -3'

Sequencing Primer
(F):5'- GCACTAGGCTGACTGATCATG -3'
(R):5'- GCCTGAAGCATCCGAAGGC -3'
Posted On 2016-02-04