Incidental Mutation 'R0279:Pik3cg'
| ID |
24570 |
| 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 |
038501-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0279 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32254790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 399
(T399I)
|
| 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: T399I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: T399I
| Domain | Start | End | E-Value | Type |
|---|
|
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: T399I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: T399I
| Domain | Start | End | E-Value | Type |
|---|
|
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: T399I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: T399I
| Domain | Start | End | E-Value | Type |
|---|
|
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: T399I
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220366
AA Change: T399I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6232 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.1%
- 20x: 89.6%
|
| Validation Efficiency |
99% (82/83) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610528J11Rik |
A |
T |
4: 118,386,490 (GRCm39) |
M1L |
probably benign |
Het |
| 5730596B20Rik |
T |
A |
6: 52,156,182 (GRCm39) |
|
probably benign |
Het |
| Acrbp |
T |
C |
6: 125,030,917 (GRCm39) |
|
probably null |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Acss3 |
A |
G |
10: 106,920,732 (GRCm39) |
I126T |
possibly damaging |
Het |
| Aff3 |
T |
C |
1: 38,574,650 (GRCm39) |
E110G |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,059,000 (GRCm39) |
I113V |
probably benign |
Het |
| Aplp2 |
T |
C |
9: 31,069,086 (GRCm39) |
E525G |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,657,440 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
C |
T |
5: 67,970,435 (GRCm39) |
|
probably null |
Het |
| Bhmt |
A |
G |
13: 93,761,972 (GRCm39) |
C104R |
probably damaging |
Het |
| Cct5 |
T |
G |
15: 31,591,177 (GRCm39) |
E508A |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,787,065 (GRCm39) |
E2761D |
probably benign |
Het |
| Clstn1 |
T |
C |
4: 149,728,131 (GRCm39) |
S600P |
probably damaging |
Het |
| Cnppd1 |
A |
G |
1: 75,113,573 (GRCm39) |
S232P |
probably damaging |
Het |
| Crybb3 |
T |
C |
5: 113,227,619 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,273,249 (GRCm39) |
I861T |
probably damaging |
Het |
| Cyp2d10 |
A |
C |
15: 82,289,540 (GRCm39) |
S191A |
possibly damaging |
Het |
| Ddx10 |
T |
C |
9: 53,146,604 (GRCm39) |
D206G |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 31,024,332 (GRCm39) |
H916N |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,802,615 (GRCm39) |
|
probably null |
Het |
| Epb42 |
G |
A |
2: 120,859,525 (GRCm39) |
|
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,423,062 (GRCm39) |
R248G |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,446,558 (GRCm39) |
F369L |
probably damaging |
Het |
| Fam170b |
T |
C |
14: 32,556,025 (GRCm39) |
|
probably benign |
Het |
| Fli1 |
A |
T |
9: 32,372,723 (GRCm39) |
V105D |
probably damaging |
Het |
| Fmo1 |
T |
C |
1: 162,657,841 (GRCm39) |
I433M |
possibly damaging |
Het |
| Fndc3b |
C |
A |
3: 27,511,155 (GRCm39) |
C785F |
probably benign |
Het |
| Foxe3 |
T |
C |
4: 114,782,765 (GRCm39) |
D149G |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,056,857 (GRCm39) |
|
probably benign |
Het |
| Gm14226 |
A |
G |
2: 154,867,372 (GRCm39) |
D443G |
possibly damaging |
Het |
| Gm9796 |
C |
T |
11: 95,588,821 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
A |
T |
9: 118,398,061 (GRCm39) |
R52S |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,710,006 (GRCm39) |
C249F |
probably damaging |
Het |
| Ipo9 |
A |
T |
1: 135,348,101 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
C |
A |
9: 54,793,877 (GRCm39) |
T269K |
probably benign |
Het |
| Kansl3 |
A |
G |
1: 36,391,050 (GRCm39) |
V274A |
probably damaging |
Het |
| Kcnk2 |
C |
T |
1: 188,942,169 (GRCm39) |
A352T |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,006,442 (GRCm39) |
E903G |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,607,541 (GRCm39) |
K253R |
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,793,536 (GRCm39) |
|
probably benign |
Het |
| Lrrc39 |
A |
T |
3: 116,371,952 (GRCm39) |
T240S |
probably benign |
Het |
| Lrrc43 |
A |
G |
5: 123,635,085 (GRCm39) |
|
probably null |
Het |
| Maf |
T |
C |
8: 116,432,495 (GRCm39) |
M370V |
possibly damaging |
Het |
| Mib2 |
G |
A |
4: 155,745,673 (GRCm39) |
S46L |
possibly damaging |
Het |
| Mms22l |
C |
T |
4: 24,497,867 (GRCm39) |
T63I |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,633,989 (GRCm39) |
S700R |
probably benign |
Het |
| Mpz |
A |
G |
1: 170,987,498 (GRCm39) |
|
probably benign |
Het |
| Ncam2 |
T |
C |
16: 81,420,225 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,584,957 (GRCm39) |
|
probably null |
Het |
| Nudt14 |
C |
T |
12: 112,902,037 (GRCm39) |
A123T |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,901,543 (GRCm39) |
|
probably benign |
Het |
| Or10h1 |
C |
T |
17: 33,418,298 (GRCm39) |
T92I |
probably benign |
Het |
| Or2a7 |
G |
A |
6: 43,151,692 (GRCm39) |
M257I |
probably benign |
Het |
| Or9g20 |
A |
T |
2: 85,629,879 (GRCm39) |
I245N |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,710,302 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
C |
T |
2: 29,973,309 (GRCm39) |
A377V |
probably benign |
Het |
| Ppan |
A |
G |
9: 20,802,825 (GRCm39) |
N327S |
probably benign |
Het |
| Prkca |
T |
C |
11: 107,944,937 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,543,033 (GRCm39) |
V320E |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,444,278 (GRCm39) |
V1442A |
probably damaging |
Het |
| Rapgef1 |
C |
T |
2: 29,616,239 (GRCm39) |
R834C |
probably damaging |
Het |
| Rbms1 |
G |
T |
2: 60,672,754 (GRCm39) |
N44K |
probably damaging |
Het |
| Rfwd3 |
A |
C |
8: 112,009,365 (GRCm39) |
F404V |
probably benign |
Het |
| Rimbp3 |
G |
T |
16: 17,027,317 (GRCm39) |
R247L |
probably benign |
Het |
| Serpinb1b |
T |
C |
13: 33,277,696 (GRCm39) |
S310P |
possibly damaging |
Het |
| Smtn |
C |
A |
11: 3,480,235 (GRCm39) |
V329L |
probably damaging |
Het |
| Snapc2 |
T |
C |
8: 4,304,979 (GRCm39) |
|
probably benign |
Het |
| Spam1 |
A |
T |
6: 24,800,418 (GRCm39) |
M386L |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,142,387 (GRCm39) |
E6208G |
probably damaging |
Het |
| Teddm1a |
T |
C |
1: 153,768,369 (GRCm39) |
Y278H |
probably damaging |
Het |
| Tnfaip6 |
A |
T |
2: 51,945,928 (GRCm39) |
N258I |
possibly damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,472 (GRCm39) |
R188Q |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,579,441 (GRCm39) |
H491Q |
probably benign |
Het |
| Urgcp |
C |
T |
11: 5,666,989 (GRCm39) |
E450K |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,637 (GRCm39) |
N294D |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,015,958 (GRCm39) |
C2606S |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,377 (GRCm39) |
H642Q |
unknown |
Het |
| Zbtb46 |
A |
G |
2: 181,053,567 (GRCm39) |
S382P |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,961,700 (GRCm39) |
I209T |
probably benign |
Het |
| Zranb3 |
T |
A |
1: 127,891,510 (GRCm39) |
N822I |
probably benign |
Het |
|
| Other mutations in Pik3cg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGAAGCTGGGCTTTGCCCTTG -3'
(R):5'- AATACACCTGGTGCTCGACACG -3'
Sequencing Primer
(F):5'- TTGCCCTTGGACTCGGAG -3'
(R):5'- ATGACTGCACTGGAGTCAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation