Incidental Mutation 'IGL02752:Pik3cg'
| ID |
304224 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02752
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32254262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 575
(L575P)
|
| 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: L575P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: L575P
| 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: L575P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: L575P
| 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: L575P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: L575P
| 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: L575P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220366
AA Change: L575P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
A |
15: 84,840,042 (GRCm39) |
E145* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,018,194 (GRCm39) |
F1142S |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,973,806 (GRCm39) |
T2503A |
possibly damaging |
Het |
| Bpi |
A |
G |
2: 158,104,344 (GRCm39) |
D149G |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,508,261 (GRCm39) |
T1258A |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,637,946 (GRCm39) |
D256G |
unknown |
Het |
| Cul5 |
T |
C |
9: 53,546,278 (GRCm39) |
T338A |
probably damaging |
Het |
| Efs |
A |
G |
14: 55,154,880 (GRCm39) |
V453A |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,323,709 (GRCm39) |
N89Y |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,280,815 (GRCm39) |
F114S |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,917,338 (GRCm38) |
I1606V |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,638 (GRCm39) |
T913A |
possibly damaging |
Het |
| Gtf2f1 |
A |
T |
17: 57,316,682 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,387,678 (GRCm39) |
*1059L |
probably null |
Het |
| Hmgb4 |
T |
C |
4: 128,154,134 (GRCm39) |
K145E |
probably damaging |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,860 (GRCm39) |
M250L |
probably benign |
Het |
| Igkv14-111 |
A |
G |
6: 68,233,561 (GRCm39) |
K21E |
probably benign |
Het |
| Il6st |
C |
T |
13: 112,616,729 (GRCm39) |
T92I |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,135,595 (GRCm39) |
V581L |
possibly damaging |
Het |
| Kank2 |
C |
T |
9: 21,706,329 (GRCm39) |
V230M |
probably damaging |
Het |
| Kif1a |
G |
A |
1: 92,967,569 (GRCm39) |
A1123V |
possibly damaging |
Het |
| Kpna4 |
T |
A |
3: 69,002,863 (GRCm39) |
R125* |
probably null |
Het |
| Mybpc3 |
A |
T |
2: 90,962,982 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
T |
C |
10: 93,546,421 (GRCm39) |
V358A |
possibly damaging |
Het |
| Pacsin1 |
A |
T |
17: 27,921,672 (GRCm39) |
|
probably null |
Het |
| Pcsk2 |
A |
G |
2: 143,615,865 (GRCm39) |
N221S |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,623,815 (GRCm39) |
V760E |
possibly damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,630,542 (GRCm39) |
|
probably null |
Het |
| Ppfia1 |
T |
C |
7: 144,073,341 (GRCm39) |
T217A |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,816,852 (GRCm39) |
T1375A |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,161,756 (GRCm39) |
I264T |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,552,905 (GRCm39) |
S164P |
probably damaging |
Het |
| Slc31a1 |
C |
T |
4: 62,303,869 (GRCm39) |
|
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,722,478 (GRCm39) |
N469D |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,208,438 (GRCm39) |
T76A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stfa3 |
G |
A |
16: 36,270,999 (GRCm39) |
T95I |
probably damaging |
Het |
| Stk11ip |
A |
C |
1: 75,501,325 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Traf1 |
A |
G |
2: 34,848,020 (GRCm39) |
S25P |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,622,125 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,798,283 (GRCm39) |
I2041N |
probably damaging |
Het |
| Zfp512b |
A |
T |
2: 181,229,864 (GRCm39) |
D556E |
possibly damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,965,415 (GRCm39) |
D633E |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation