Incidental Mutation 'IGL03107:Pik3cg'
ID 419036
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 # IGL03107
Quality Score
Status
Chromosome 12
Chromosomal Location 32223472-32258658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32250594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 731 (D731G)
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: D731G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: D731G

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: D731G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: D731G

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 probably damaging
Transcript: ENSMUST00000156904
AA Change: D731G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: D731G

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: D731G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably damaging
Transcript: ENSMUST00000220366
AA Change: D731G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q 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
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 2016-08-02