Incidental Mutation 'R0145:Pik3cg'
ID |
22587 |
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 |
038430-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0145 (G1)
of strain
722
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
12 |
Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 32254321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 555
(L555F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053215]
[ENSMUST00000085469]
[ENSMUST00000156904]
[ENSMUST00000217915]
[ENSMUST00000220366]
|
AlphaFold |
Q9JHG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053215
AA Change: L555F
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000062864 Gene: ENSMUSG00000020573 AA Change: L555F
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 benign
Transcript: ENSMUST00000085469
AA Change: L555F
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000082596 Gene: ENSMUSG00000020573 AA Change: L555F
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 benign
Transcript: ENSMUST00000156904
AA Change: L555F
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000123539 Gene: ENSMUSG00000020573 AA Change: L555F
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 benign
Transcript: ENSMUST00000217915
AA Change: L555F
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220366
AA Change: L555F
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.4199 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 93.7%
- 20x: 82.1%
|
Validation Efficiency |
96% (109/113) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
G |
10: 100,437,783 (GRCm39) |
E64G |
probably damaging |
Het |
Actr6 |
A |
T |
10: 89,564,040 (GRCm39) |
Y77* |
probably null |
Het |
Aldoart1 |
A |
T |
4: 72,769,576 (GRCm39) |
S411T |
probably benign |
Het |
Aqp1 |
C |
T |
6: 55,323,672 (GRCm39) |
R234C |
probably damaging |
Het |
Arsb |
G |
A |
13: 93,998,795 (GRCm39) |
G368R |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,586,662 (GRCm39) |
A151T |
probably damaging |
Het |
Bcas3 |
T |
C |
11: 85,250,436 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
AACACA |
AACA |
1: 59,906,739 (GRCm39) |
|
probably null |
Het |
Bst1 |
A |
G |
5: 43,976,414 (GRCm39) |
Y49C |
probably damaging |
Het |
Btrc |
T |
A |
19: 45,411,612 (GRCm39) |
L12Q |
probably damaging |
Het |
Cd248 |
T |
C |
19: 5,119,051 (GRCm39) |
F300L |
possibly damaging |
Het |
Cdk11b |
G |
T |
4: 155,726,076 (GRCm39) |
|
probably benign |
Het |
Cfap410 |
T |
C |
10: 77,819,390 (GRCm39) |
S196P |
probably benign |
Het |
Cfap44 |
A |
T |
16: 44,288,735 (GRCm39) |
D1495V |
probably damaging |
Het |
Chil3 |
T |
A |
3: 106,067,794 (GRCm39) |
I124F |
probably damaging |
Het |
Cnot2 |
A |
T |
10: 116,353,273 (GRCm39) |
S63T |
possibly damaging |
Het |
Cox8a |
G |
T |
19: 7,192,783 (GRCm39) |
H61N |
probably benign |
Het |
Cpne9 |
T |
C |
6: 113,277,562 (GRCm39) |
V427A |
probably damaging |
Het |
Ctsll3 |
C |
A |
13: 60,946,409 (GRCm39) |
G301C |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,311,243 (GRCm39) |
D3094V |
probably damaging |
Het |
Cyba |
A |
T |
8: 123,153,977 (GRCm39) |
M65K |
possibly damaging |
Het |
Cyp4f39 |
T |
A |
17: 32,705,934 (GRCm39) |
S342T |
possibly damaging |
Het |
Daam2 |
T |
C |
17: 49,787,806 (GRCm39) |
I436V |
probably benign |
Het |
Daglb |
T |
C |
5: 143,460,363 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
G |
1: 46,262,338 (GRCm39) |
L2067R |
probably damaging |
Het |
Ep300 |
T |
C |
15: 81,500,328 (GRCm39) |
|
probably null |
Het |
Esm1 |
A |
G |
13: 113,353,230 (GRCm39) |
N171D |
probably damaging |
Het |
Fbxl2 |
T |
C |
9: 113,814,393 (GRCm39) |
E266G |
probably damaging |
Het |
Ficd |
G |
T |
5: 113,876,880 (GRCm39) |
A352S |
probably damaging |
Het |
H2-Q2 |
A |
G |
17: 35,564,152 (GRCm39) |
D302G |
probably benign |
Het |
Hacd3 |
A |
T |
9: 64,911,524 (GRCm39) |
|
probably benign |
Het |
Kbtbd6 |
T |
A |
14: 79,690,464 (GRCm39) |
N386K |
probably benign |
Het |
Lct |
T |
C |
1: 128,255,632 (GRCm39) |
M137V |
probably benign |
Het |
Lilrb4b |
T |
G |
10: 51,360,614 (GRCm39) |
N176K |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,281,190 (GRCm39) |
H4340L |
probably damaging |
Het |
Mcidas |
A |
G |
13: 113,130,906 (GRCm39) |
D77G |
probably damaging |
Het |
Mmrn1 |
C |
A |
6: 60,949,994 (GRCm39) |
Q315K |
probably damaging |
Het |
Mon2 |
C |
A |
10: 122,849,417 (GRCm39) |
L1294F |
possibly damaging |
Het |
Muc5ac |
A |
G |
7: 141,349,012 (GRCm39) |
T483A |
possibly damaging |
Het |
Nacc1 |
T |
C |
8: 85,401,504 (GRCm39) |
|
probably benign |
Het |
Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
Ngef |
A |
G |
1: 87,468,370 (GRCm39) |
|
probably benign |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Ogfod3 |
A |
T |
11: 121,085,896 (GRCm39) |
|
probably benign |
Het |
Or6c8 |
A |
T |
10: 128,915,232 (GRCm39) |
V200E |
probably damaging |
Het |
Or8i2 |
A |
C |
2: 86,852,134 (GRCm39) |
Y251* |
probably null |
Het |
Parpbp |
T |
C |
10: 87,928,871 (GRCm39) |
Y523C |
possibly damaging |
Het |
Pkp3 |
T |
G |
7: 140,669,676 (GRCm39) |
|
probably null |
Het |
Pole |
G |
T |
5: 110,472,291 (GRCm39) |
R1518L |
probably damaging |
Het |
Prkab1 |
T |
C |
5: 116,156,144 (GRCm39) |
|
probably benign |
Het |
Prrc2a |
T |
C |
17: 35,374,796 (GRCm39) |
T1285A |
probably benign |
Het |
Pus1 |
C |
A |
5: 110,922,720 (GRCm39) |
V222L |
probably benign |
Het |
Rab11fip1 |
A |
G |
8: 27,633,352 (GRCm39) |
L1118P |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,315,868 (GRCm39) |
I2196N |
probably damaging |
Het |
Rims3 |
T |
C |
4: 120,744,223 (GRCm39) |
L151P |
probably damaging |
Het |
Rnf130 |
A |
G |
11: 49,962,046 (GRCm39) |
D164G |
possibly damaging |
Het |
Rps6ka2 |
C |
A |
17: 7,529,585 (GRCm39) |
L293I |
probably benign |
Het |
Ruvbl1 |
A |
G |
6: 88,461,441 (GRCm39) |
T269A |
possibly damaging |
Het |
Sema4a |
A |
T |
3: 88,358,729 (GRCm39) |
I10N |
probably damaging |
Het |
Serpinb6e |
A |
T |
13: 34,025,043 (GRCm39) |
S83T |
probably benign |
Het |
Slc12a9 |
C |
A |
5: 137,313,550 (GRCm39) |
W803L |
probably damaging |
Het |
Slc3a2 |
A |
G |
19: 8,685,437 (GRCm39) |
S188P |
probably damaging |
Het |
Slc7a13 |
G |
A |
4: 19,818,782 (GRCm39) |
|
probably benign |
Het |
Spart |
A |
T |
3: 55,035,092 (GRCm39) |
K493* |
probably null |
Het |
Spata31e2 |
A |
G |
1: 26,726,413 (GRCm39) |
M32T |
probably benign |
Het |
Sun1 |
T |
C |
5: 139,227,166 (GRCm39) |
V574A |
probably damaging |
Het |
Supt6 |
A |
G |
11: 78,099,062 (GRCm39) |
V1603A |
probably benign |
Het |
Tgm5 |
A |
G |
2: 120,908,062 (GRCm39) |
V38A |
possibly damaging |
Het |
Tm6sf2 |
T |
C |
8: 70,530,518 (GRCm39) |
|
probably benign |
Het |
Tnfaip2 |
T |
A |
12: 111,412,292 (GRCm39) |
V231E |
possibly damaging |
Het |
Tube1 |
T |
A |
10: 39,021,598 (GRCm39) |
M281K |
possibly damaging |
Het |
Tubgcp3 |
A |
G |
8: 12,707,561 (GRCm39) |
Y143H |
probably benign |
Het |
Tyrp1 |
A |
G |
4: 80,759,015 (GRCm39) |
Y296C |
probably damaging |
Het |
Utp4 |
A |
G |
8: 107,621,301 (GRCm39) |
N26S |
probably benign |
Het |
Vgf |
T |
A |
5: 137,060,336 (GRCm39) |
|
probably benign |
Het |
Zfat |
T |
C |
15: 68,058,948 (GRCm39) |
K196E |
possibly damaging |
Het |
Zfp366 |
G |
T |
13: 99,366,048 (GRCm39) |
S403I |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,010,529 (GRCm39) |
G832R |
probably damaging |
Het |
Zfp955a |
T |
A |
17: 33,461,430 (GRCm39) |
Q234L |
probably damaging |
Het |
Zup1 |
T |
C |
10: 33,819,709 (GRCm39) |
T202A |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGTTAAGCCAACGTCCAAAGCAC -3'
(R):5'- GCAGCTTCAATGCTGACAAGCTCAC -3'
Sequencing Primer
(F):5'- GTCCAAAGCACTTTGATCCCAG -3'
(R):5'- TGCTGACAAGCTCACATCCG -3'
|
Posted On |
2013-04-16 |