Incidental Mutation 'R9166:Pik3cg'
| ID |
696084 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32242213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 966
(G966R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053215]
[ENSMUST00000085469]
[ENSMUST00000156904]
[ENSMUST00000217915]
[ENSMUST00000220366]
|
| AlphaFold |
Q9JHG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053215
AA Change: G966R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: G966R
| 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: G966R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: G966R
| 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: ENSMUST00000156904
AA Change: G966R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: G966R
| 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: ENSMUST00000217915
AA Change: G966R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220366
AA Change: G966R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,853,046 (GRCm39) |
L30P |
possibly damaging |
Het |
| Adgrb1 |
A |
C |
15: 74,420,475 (GRCm39) |
M875L |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ankrd13c |
T |
A |
3: 157,705,357 (GRCm39) |
S427T |
probably benign |
Het |
| Aopep |
G |
A |
13: 63,318,862 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
A |
C |
13: 94,608,236 (GRCm39) |
Y569S |
probably damaging |
Het |
| Bco2 |
A |
G |
9: 50,447,667 (GRCm39) |
V352A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,516 (GRCm39) |
N2630K |
probably damaging |
Het |
| Cacnb1 |
T |
A |
11: 97,910,534 (GRCm39) |
D48V |
probably damaging |
Het |
| Cdr2l |
C |
A |
11: 115,283,537 (GRCm39) |
Q132K |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,554,572 (GRCm39) |
M377T |
probably benign |
Het |
| Coq7 |
T |
C |
7: 118,109,365 (GRCm39) |
T228A |
unknown |
Het |
| D7Ertd443e |
G |
A |
7: 133,900,048 (GRCm39) |
T438I |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,066,589 (GRCm39) |
E15K |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,651,206 (GRCm39) |
R109Q |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,126,959 (GRCm39) |
V1359A |
probably damaging |
Het |
| E2f7 |
C |
T |
10: 110,618,085 (GRCm39) |
P717S |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,132,438 (GRCm39) |
D669G |
probably benign |
Het |
| Epha6 |
A |
G |
16: 60,425,238 (GRCm39) |
V125A |
probably benign |
Het |
| Erg |
G |
T |
16: 95,190,807 (GRCm39) |
H119N |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,595,252 (GRCm39) |
S371G |
probably benign |
Het |
| Fancg |
G |
C |
4: 43,006,800 (GRCm39) |
Q297E |
probably benign |
Het |
| Gas2 |
A |
G |
7: 51,586,323 (GRCm39) |
E145G |
possibly damaging |
Het |
| Gas7 |
T |
C |
11: 67,561,446 (GRCm39) |
V218A |
probably benign |
Het |
| Gm9970 |
A |
G |
5: 31,398,345 (GRCm39) |
S78P |
unknown |
Het |
| Hectd4 |
A |
C |
5: 121,446,690 (GRCm39) |
D259A |
probably damaging |
Het |
| Hoxb2 |
T |
G |
11: 96,244,339 (GRCm39) |
S317A |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,270,185 (GRCm39) |
L2381P |
probably damaging |
Het |
| Irf4 |
A |
T |
13: 30,941,484 (GRCm39) |
H280L |
probably benign |
Het |
| Irf7 |
A |
G |
7: 140,844,666 (GRCm39) |
V142A |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,190,928 (GRCm39) |
I94V |
probably benign |
Het |
| Kera |
T |
A |
10: 97,448,830 (GRCm39) |
I350K |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,952 (GRCm39) |
S176P |
probably benign |
Het |
| Lrrc59 |
C |
A |
11: 94,522,959 (GRCm39) |
T53N |
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,945,024 (GRCm39) |
Y83H |
probably damaging |
Het |
| Myef2l |
A |
G |
3: 10,153,849 (GRCm39) |
N206S |
probably benign |
Het |
| Neil3 |
A |
C |
8: 54,058,722 (GRCm39) |
M273R |
probably damaging |
Het |
| Ngfr |
A |
T |
11: 95,465,047 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nudc |
T |
C |
4: 133,273,165 (GRCm39) |
D11G |
probably damaging |
Het |
| Or2t1 |
A |
T |
14: 14,329,059 (GRCm38) |
D316V |
probably benign |
Het |
| Or4a81 |
T |
A |
2: 89,619,291 (GRCm39) |
N135I |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,920,980 (GRCm39) |
T573A |
probably damaging |
Het |
| Ppp2r5a |
C |
A |
1: 191,128,504 (GRCm39) |
R37L |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,387,340 (GRCm39) |
F1207S |
possibly damaging |
Het |
| Prtg |
A |
T |
9: 72,764,107 (GRCm39) |
I527F |
probably damaging |
Het |
| Pspc1 |
A |
G |
14: 56,999,305 (GRCm39) |
M317T |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,525,180 (GRCm39) |
V768I |
probably benign |
Het |
| Ptx4 |
A |
G |
17: 25,343,546 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
T |
C |
2: 158,274,842 (GRCm39) |
|
probably null |
Het |
| Rhobtb2 |
C |
A |
14: 70,034,703 (GRCm39) |
G174V |
probably damaging |
Het |
| Sdad1 |
G |
T |
5: 92,446,080 (GRCm39) |
S285* |
probably null |
Het |
| Sema4f |
G |
T |
6: 82,890,626 (GRCm39) |
S727* |
probably null |
Het |
| Sik1 |
A |
G |
17: 32,069,727 (GRCm39) |
F241L |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,662,096 (GRCm39) |
S279P |
probably benign |
Het |
| Slco4a1 |
A |
G |
2: 180,106,034 (GRCm39) |
E72G |
probably benign |
Het |
| Smok3c |
A |
T |
5: 138,063,781 (GRCm39) |
T423S |
possibly damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,784,811 (GRCm39) |
V1078A |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,673,776 (GRCm39) |
V337A |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,173,933 (GRCm39) |
G1443V |
probably damaging |
Het |
| Ticam2 |
A |
T |
18: 46,694,048 (GRCm39) |
L13H |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,786,624 (GRCm39) |
E1562G |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,074 (GRCm39) |
K742N |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,142,751 (GRCm39) |
V255E |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,608 (GRCm39) |
E2G |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,452,091 (GRCm39) |
T353S |
probably benign |
Het |
| Vim |
T |
C |
2: 13,579,556 (GRCm39) |
V105A |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,431 (GRCm39) |
V404E |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,941,874 (GRCm39) |
P1115L |
probably damaging |
Het |
| Wfdc12 |
G |
T |
2: 164,032,193 (GRCm39) |
C32* |
probably null |
Het |
| Zfp750 |
T |
A |
11: 121,403,980 (GRCm39) |
R298S |
probably damaging |
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 |
|
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 |
|
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'- GAAGGACTGCGGTGACATAC -3'
(R):5'- GAAAGCTTTGTGGCTACTGC -3'
Sequencing Primer
(F):5'- CATACCTGGAATTTCTGGAAGGACTG -3'
(R):5'- ACCAGGTAATGACACCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation