Incidental Mutation 'R9052:Pik3cg'
| ID |
688472 |
| 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 |
068878-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32245708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 847
(I847V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053215]
[ENSMUST00000085469]
[ENSMUST00000156904]
[ENSMUST00000217915]
[ENSMUST00000220366]
|
| AlphaFold |
Q9JHG7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053215
AA Change: I847V
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: I847V
| 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: ENSMUST00000085469
AA Change: I847V
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: I847V
| 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: ENSMUST00000156904
AA Change: I847V
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: I847V
| 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: I847V
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220366
AA Change: I847V
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (69/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,778,031 (GRCm39) |
E71G |
probably damaging |
Het |
| 2610021A01Rik |
G |
T |
7: 41,275,449 (GRCm39) |
G384V |
probably benign |
Het |
| 4931406B18Rik |
T |
A |
7: 43,147,631 (GRCm39) |
R247* |
probably null |
Het |
| Abca4 |
G |
T |
3: 121,940,908 (GRCm39) |
V1576F |
possibly damaging |
Het |
| Acsl6 |
A |
T |
11: 54,232,615 (GRCm39) |
T489S |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,792,764 (GRCm39) |
R64H |
probably benign |
Het |
| Atad2b |
C |
A |
12: 5,015,982 (GRCm39) |
F569L |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,330,032 (GRCm39) |
I266N |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,936,301 (GRCm39) |
|
probably null |
Het |
| Coch |
T |
C |
12: 51,640,408 (GRCm39) |
M1T |
probably null |
Het |
| Col5a3 |
C |
A |
9: 20,710,733 (GRCm39) |
R537L |
unknown |
Het |
| Crb1 |
C |
T |
1: 139,171,161 (GRCm39) |
R743Q |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
| Cyp4f15 |
C |
T |
17: 32,911,589 (GRCm39) |
T157I |
probably damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,154,544 (GRCm39) |
Q1212K |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,911,463 (GRCm39) |
Y175H |
probably damaging |
Het |
| Dhcr7 |
C |
A |
7: 143,395,060 (GRCm39) |
T192K |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
| Dmpk |
G |
A |
7: 18,821,614 (GRCm39) |
V291M |
probably damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,496,617 (GRCm39) |
V928A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,206,045 (GRCm39) |
Y859C |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,236,411 (GRCm39) |
Q1592* |
probably null |
Het |
| Gm10226 |
T |
A |
17: 21,910,959 (GRCm39) |
C65S |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,881,968 (GRCm39) |
K275R |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,152,246 (GRCm39) |
T581A |
probably damaging |
Het |
| Ighv1-24 |
C |
T |
12: 114,736,555 (GRCm39) |
C115Y |
probably damaging |
Het |
| Il18 |
C |
T |
9: 50,489,090 (GRCm39) |
L40F |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,390 (GRCm39) |
D113G |
probably damaging |
Het |
| Itgb3 |
A |
T |
11: 104,524,413 (GRCm39) |
D183V |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,090,068 (GRCm39) |
V28M |
probably damaging |
Het |
| Manbal |
T |
C |
2: 157,221,107 (GRCm39) |
L28P |
probably damaging |
Het |
| Masp1 |
T |
A |
16: 23,339,350 (GRCm39) |
|
probably benign |
Het |
| Mfap5 |
A |
G |
6: 122,501,463 (GRCm39) |
T72A |
probably benign |
Het |
| Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,433,876 (GRCm39) |
|
probably benign |
Het |
| Ms4a1 |
T |
A |
19: 11,233,954 (GRCm39) |
T101S |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,062,747 (GRCm39) |
M344V |
probably benign |
Het |
| Naaladl1 |
T |
G |
19: 6,158,716 (GRCm39) |
F283V |
probably benign |
Het |
| Nacc1 |
A |
C |
8: 85,403,377 (GRCm39) |
V166G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,961,773 (GRCm39) |
R452S |
probably damaging |
Het |
| Or1n1b |
T |
C |
2: 36,780,105 (GRCm39) |
T252A |
probably damaging |
Het |
| Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
| Or5k16 |
T |
C |
16: 58,736,561 (GRCm39) |
T148A |
probably benign |
Het |
| Or6c214 |
C |
G |
10: 129,591,094 (GRCm39) |
C75S |
possibly damaging |
Het |
| Plcz1 |
G |
A |
6: 139,968,905 (GRCm39) |
H178Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,508,160 (GRCm39) |
M937K |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,987,478 (GRCm39) |
C672* |
probably null |
Het |
| Rasl11a |
C |
A |
5: 146,782,107 (GRCm39) |
D27E |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,465,893 (GRCm39) |
S860P |
probably damaging |
Het |
| Rfxap |
G |
A |
3: 54,715,155 (GRCm39) |
|
probably benign |
Het |
| Rhbdf2 |
A |
C |
11: 116,494,758 (GRCm39) |
L306R |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,208,459 (GRCm39) |
V826L |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,936,930 (GRCm39) |
V875E |
probably damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,709,164 (GRCm39) |
|
probably benign |
Het |
| Slc7a9 |
A |
G |
7: 35,153,017 (GRCm39) |
K145R |
probably benign |
Het |
| Slco5a1 |
A |
T |
1: 13,060,397 (GRCm39) |
V108E |
possibly damaging |
Het |
| Stat2 |
A |
G |
10: 128,117,538 (GRCm39) |
E352G |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,735,728 (GRCm39) |
S1408R |
probably benign |
Het |
| Tent5c |
A |
T |
3: 100,380,618 (GRCm39) |
I46K |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,585,166 (GRCm39) |
M102K |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Ttc23 |
C |
A |
7: 67,342,687 (GRCm39) |
C268* |
probably null |
Het |
| Uhrf2 |
T |
C |
19: 30,070,236 (GRCm39) |
F795S |
probably damaging |
Het |
| Urgcp |
A |
G |
11: 5,673,153 (GRCm39) |
W41R |
probably damaging |
Het |
| Uso1 |
G |
T |
5: 92,328,422 (GRCm39) |
V340F |
probably damaging |
Het |
| Vta1 |
A |
C |
10: 14,551,692 (GRCm39) |
I169R |
probably benign |
Het |
| Zfp317 |
A |
G |
9: 19,556,568 (GRCm39) |
I59V |
probably benign |
Het |
| Zfp799 |
G |
A |
17: 33,039,786 (GRCm39) |
T160I |
probably benign |
Het |
| Zfp955a |
G |
T |
17: 33,461,279 (GRCm39) |
H284Q |
possibly 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 |
|
|
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'- TCCCGTTAAGGACTGCTTTC -3'
(R):5'- TTTTCTTCAACATATACCCCAGGG -3'
Sequencing Primer
(F):5'- AAGGACTGCTTTCTTTCCCTGAGG -3'
(R):5'- CCCAGGGGCTGAAATTAACAGATTTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation