Incidental Mutation 'R8720:Pik3cg'
| ID |
670088 |
| 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 |
068571-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32243688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 928
(F928I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053215]
[ENSMUST00000085469]
[ENSMUST00000156904]
[ENSMUST00000217915]
[ENSMUST00000220366]
|
| AlphaFold |
Q9JHG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053215
AA Change: F928I
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: F928I
| 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: F928I
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: F928I
| 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: ENSMUST00000156904
AA Change: F928I
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: F928I
| 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: F928I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220366
AA Change: F928I
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
T |
C |
11: 61,104,305 (GRCm39) |
V64A |
probably benign |
Het |
| Anln |
T |
C |
9: 22,284,573 (GRCm39) |
H379R |
probably benign |
Het |
| Asb2 |
A |
G |
12: 103,291,680 (GRCm39) |
Y416H |
probably damaging |
Het |
| Atp2b4 |
TTCTTC |
TTCTTCGTCTTC |
1: 133,629,465 (GRCm39) |
|
probably benign |
Het |
| Chsy1 |
T |
A |
7: 65,821,088 (GRCm39) |
M441K |
possibly damaging |
Het |
| Cmas |
A |
G |
6: 142,716,929 (GRCm39) |
K274E |
probably damaging |
Het |
| Cmip |
A |
G |
8: 118,138,010 (GRCm39) |
Y75C |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,637,531 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
A |
G |
1: 45,386,893 (GRCm39) |
Y1368C |
unknown |
Het |
| Cracdl |
A |
G |
1: 37,652,522 (GRCm39) |
F1095S |
possibly damaging |
Het |
| Cspg4 |
C |
T |
9: 56,794,797 (GRCm39) |
T844I |
probably benign |
Het |
| Dnai7 |
G |
T |
6: 145,150,983 (GRCm39) |
R30S |
unknown |
Het |
| Ect2 |
A |
T |
3: 27,169,647 (GRCm39) |
N766K |
probably damaging |
Het |
| Fanci |
C |
A |
7: 79,089,425 (GRCm39) |
Q954K |
possibly damaging |
Het |
| Gm30083 |
A |
G |
14: 33,736,895 (GRCm39) |
S21P |
probably benign |
Het |
| Gulo |
C |
T |
14: 66,225,074 (GRCm39) |
E422K |
probably benign |
Het |
| Helq |
A |
G |
5: 100,914,561 (GRCm39) |
V977A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,389,105 (GRCm39) |
D3874G |
probably benign |
Het |
| Hsf4 |
G |
T |
8: 105,996,605 (GRCm39) |
D34Y |
probably damaging |
Het |
| Il18 |
G |
A |
9: 50,476,684 (GRCm39) |
|
probably benign |
Het |
| Il22ra2 |
A |
T |
10: 19,508,599 (GRCm39) |
E209V |
probably damaging |
Het |
| Ino80 |
A |
T |
2: 119,232,868 (GRCm39) |
L1150Q |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,691,792 (GRCm39) |
F231L |
probably damaging |
Het |
| Krtap19-4 |
A |
G |
16: 88,681,846 (GRCm39) |
Y37H |
unknown |
Het |
| Lama4 |
A |
T |
10: 38,971,079 (GRCm39) |
D1548V |
probably damaging |
Het |
| Lrig2 |
C |
T |
3: 104,418,998 (GRCm39) |
A4T |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,324,459 (GRCm39) |
I1265F |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,552,896 (GRCm39) |
T4466S |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,204,570 (GRCm39) |
I57V |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,298,630 (GRCm39) |
Y469N |
probably benign |
Het |
| Nav1 |
G |
A |
1: 135,388,464 (GRCm39) |
R1065C |
unknown |
Het |
| Nps |
C |
T |
7: 134,874,045 (GRCm39) |
R72C |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,117,681 (GRCm39) |
V1796I |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,024,667 (GRCm39) |
K451E |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,968 (GRCm39) |
D67E |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,975,196 (GRCm39) |
N486D |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,089,084 (GRCm39) |
L413P |
probably damaging |
Het |
| Rbm45 |
G |
T |
2: 76,210,711 (GRCm39) |
R414L |
probably damaging |
Het |
| Sap30l |
A |
T |
11: 57,698,875 (GRCm39) |
N116I |
probably damaging |
Het |
| Slc17a5 |
A |
T |
9: 78,485,945 (GRCm39) |
F47I |
probably damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,668,852 (GRCm39) |
S527T |
probably benign |
Het |
| Srbd1 |
A |
T |
17: 86,358,571 (GRCm39) |
D659E |
probably damaging |
Het |
| Sycp3 |
A |
G |
10: 88,298,394 (GRCm39) |
Q40R |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,063,590 (GRCm39) |
S374G |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,208,149 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,090,715 (GRCm39) |
V449I |
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,036,031 (GRCm39) |
V212D |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,792,194 (GRCm39) |
I21F |
possibly damaging |
Het |
| Zmiz2 |
A |
T |
11: 6,349,904 (GRCm39) |
I491F |
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 |
|
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'- TAGACTCTCACTCTGTGCCAG -3'
(R):5'- GGGACGTACTAATGAGGCTG -3'
Sequencing Primer
(F):5'- CCCTTGTCTGAACACGTAGGAATG -3'
(R):5'- CGTACTAATGAGGCTGGACTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation