Incidental Mutation 'R0471:Pik3cg'
ID |
46778 |
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 |
038671-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0471 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32244770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 895
(T895S)
|
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: T895S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062864 Gene: ENSMUSG00000020573 AA Change: T895S
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: T895S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000082596 Gene: ENSMUSG00000020573 AA Change: T895S
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: T895S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123539 Gene: ENSMUSG00000020573 AA Change: T895S
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: T895S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220366
AA Change: T895S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.0938 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (67/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
T |
C |
3: 97,075,891 (GRCm39) |
|
probably null |
Het |
Adam33 |
C |
A |
2: 130,896,399 (GRCm39) |
G437C |
probably damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,579,377 (GRCm39) |
M1K |
probably null |
Het |
Amotl2 |
C |
A |
9: 102,597,718 (GRCm39) |
P126Q |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,580,275 (GRCm39) |
M576K |
possibly damaging |
Het |
Apob |
C |
A |
12: 8,040,406 (GRCm39) |
A581E |
probably damaging |
Het |
Asb7 |
A |
T |
7: 66,328,907 (GRCm39) |
D44E |
probably damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
C9orf72 |
G |
A |
4: 35,193,257 (GRCm39) |
T232I |
probably benign |
Het |
Ccdc65 |
A |
T |
15: 98,615,348 (GRCm39) |
H118L |
probably benign |
Het |
Cdc25b |
A |
G |
2: 131,039,204 (GRCm39) |
E523G |
probably damaging |
Het |
Cdk11b |
A |
G |
4: 155,731,999 (GRCm39) |
|
probably benign |
Het |
Cilk1 |
G |
T |
9: 78,062,799 (GRCm39) |
|
probably null |
Het |
Clec1b |
A |
G |
6: 129,378,570 (GRCm39) |
|
probably benign |
Het |
Cntrl |
A |
G |
2: 35,017,392 (GRCm39) |
T400A |
probably benign |
Het |
Cpne4 |
T |
G |
9: 104,899,481 (GRCm39) |
|
probably null |
Het |
Cyp2j6 |
T |
A |
4: 96,419,985 (GRCm39) |
R249* |
probably null |
Het |
Dock2 |
T |
C |
11: 34,579,380 (GRCm39) |
I678V |
probably benign |
Het |
Dqx1 |
C |
T |
6: 83,036,407 (GRCm39) |
|
probably benign |
Het |
Dsp |
A |
T |
13: 38,377,326 (GRCm39) |
K1704* |
probably null |
Het |
Eif2b2 |
T |
C |
12: 85,266,957 (GRCm39) |
F121S |
probably benign |
Het |
Ephx4 |
T |
C |
5: 107,561,379 (GRCm39) |
V69A |
possibly damaging |
Het |
Epn2 |
T |
C |
11: 61,426,134 (GRCm39) |
Q281R |
probably damaging |
Het |
Fgf3 |
A |
C |
7: 144,396,547 (GRCm39) |
D187A |
probably damaging |
Het |
Galnt18 |
C |
A |
7: 111,378,506 (GRCm39) |
|
probably benign |
Het |
Gm4871 |
C |
T |
5: 144,968,402 (GRCm39) |
|
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,768,528 (GRCm39) |
I679T |
possibly damaging |
Het |
Itpkb |
A |
G |
1: 180,245,820 (GRCm39) |
E779G |
probably damaging |
Het |
Itsn1 |
G |
A |
16: 91,696,477 (GRCm39) |
V27M |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,355,578 (GRCm39) |
R422L |
probably damaging |
Het |
Mmp25 |
G |
A |
17: 23,858,858 (GRCm39) |
A231V |
possibly damaging |
Het |
Mprip |
T |
C |
11: 59,650,561 (GRCm39) |
S1422P |
probably damaging |
Het |
Mro |
A |
T |
18: 74,009,860 (GRCm39) |
Q176L |
probably benign |
Het |
Mrpl12 |
A |
G |
11: 120,379,229 (GRCm39) |
E192G |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,862,025 (GRCm39) |
|
probably benign |
Het |
Ncam2 |
G |
T |
16: 80,997,772 (GRCm39) |
|
probably benign |
Het |
Nip7 |
T |
C |
8: 107,783,949 (GRCm39) |
L63P |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,138,450 (GRCm39) |
|
probably benign |
Het |
Nup98 |
A |
T |
7: 101,788,004 (GRCm39) |
V1022D |
probably benign |
Het |
Or2y1e |
T |
A |
11: 49,218,744 (GRCm39) |
C169S |
probably damaging |
Het |
Or5d43 |
A |
G |
2: 88,104,559 (GRCm39) |
V278A |
possibly damaging |
Het |
Or5h22 |
A |
G |
16: 58,894,633 (GRCm39) |
I270T |
probably benign |
Het |
Or7g28 |
A |
T |
9: 19,272,177 (GRCm39) |
L158* |
probably null |
Het |
P4ha2 |
T |
C |
11: 54,008,434 (GRCm39) |
Y214H |
possibly damaging |
Het |
Pacrg |
A |
T |
17: 10,795,407 (GRCm39) |
F184L |
possibly damaging |
Het |
Parpbp |
T |
A |
10: 87,929,569 (GRCm39) |
R426S |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,454,359 (GRCm39) |
Y246* |
probably null |
Het |
Prkch |
T |
C |
12: 73,738,426 (GRCm39) |
Y178H |
probably benign |
Het |
Rusc2 |
G |
T |
4: 43,425,486 (GRCm39) |
R1197L |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,054,700 (GRCm39) |
E3296G |
possibly damaging |
Het |
Svs3a |
A |
G |
2: 164,131,801 (GRCm39) |
K123R |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,304,006 (GRCm39) |
|
probably null |
Het |
Syne3 |
T |
C |
12: 104,909,685 (GRCm39) |
H717R |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,050,092 (GRCm39) |
|
probably null |
Het |
Trim24 |
T |
G |
6: 37,892,130 (GRCm39) |
V151G |
possibly damaging |
Het |
Trim33 |
T |
C |
3: 103,234,217 (GRCm39) |
V56A |
possibly damaging |
Het |
Trim67 |
C |
A |
8: 125,521,397 (GRCm39) |
T253K |
probably benign |
Het |
Trip12 |
T |
C |
1: 84,703,928 (GRCm39) |
E698G |
probably damaging |
Het |
Tspan14 |
T |
C |
14: 40,637,353 (GRCm39) |
D145G |
probably damaging |
Het |
Ushbp1 |
G |
A |
8: 71,847,021 (GRCm39) |
Q204* |
probably null |
Het |
Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
Vmn2r75 |
G |
T |
7: 85,814,721 (GRCm39) |
N257K |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,394,598 (GRCm39) |
|
probably benign |
Het |
Zc3h7b |
G |
A |
15: 81,666,169 (GRCm39) |
D560N |
probably damaging |
Het |
Zscan21 |
T |
C |
5: 138,123,402 (GRCm39) |
V27A |
probably benign |
Het |
Zzef1 |
A |
C |
11: 72,813,937 (GRCm39) |
E2842A |
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 |
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'- AGCCTGTTAGACCAGGAACCACTAC -3'
(R):5'- TTGTCACTTCCCCAAAGCAGCC -3'
Sequencing Primer
(F):5'- TACTGTCCAACAGAAGACAAGCTG -3'
(R):5'- ACGATTTCTGGAGCCTTGC -3'
|
Posted On |
2013-06-11 |