Incidental Mutation 'R7910:Pik3cg'
| ID |
610462 |
| 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 |
045959-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7910 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32250516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 757
(Y757C)
|
| 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: Y757C
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: Y757C
| 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: Y757C
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: Y757C
| 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: Y757C
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: Y757C
| 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: Y757C
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220366
AA Change: Y757C
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
T |
6: 65,930,289 (GRCm39) |
T175S |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,531,590 (GRCm39) |
I4606V |
probably damaging |
Het |
| Abca3 |
G |
A |
17: 24,604,827 (GRCm39) |
V645I |
probably benign |
Het |
| Abi3bp |
A |
T |
16: 56,498,105 (GRCm39) |
R980* |
probably null |
Het |
| Acsl6 |
G |
T |
11: 54,236,797 (GRCm39) |
G564* |
probably null |
Het |
| Alppl2 |
T |
C |
1: 87,015,159 (GRCm39) |
E430G |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,516,654 (GRCm39) |
Y883C |
probably damaging |
Het |
| Atp11b |
T |
C |
3: 35,885,652 (GRCm39) |
F882L |
possibly damaging |
Het |
| Atrn |
T |
A |
2: 130,806,807 (GRCm39) |
H609Q |
probably benign |
Het |
| Bcl2l13 |
A |
T |
6: 120,842,646 (GRCm39) |
K113M |
possibly damaging |
Het |
| Brinp2 |
T |
A |
1: 158,074,450 (GRCm39) |
N557I |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,959,326 (GRCm39) |
L416P |
probably benign |
Het |
| Ccdc125 |
T |
A |
13: 100,819,327 (GRCm39) |
I163K |
possibly damaging |
Het |
| Ccdc136 |
T |
G |
6: 29,420,033 (GRCm39) |
D1075E |
probably benign |
Het |
| Cdc45 |
T |
A |
16: 18,629,203 (GRCm39) |
Y47F |
probably damaging |
Het |
| Cdk10 |
T |
C |
8: 123,953,105 (GRCm39) |
V36A |
probably damaging |
Het |
| Ciz1 |
T |
A |
2: 32,260,139 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
T |
G |
1: 118,530,144 (GRCm39) |
L1502* |
probably null |
Het |
| Crtc1 |
G |
T |
8: 70,840,251 (GRCm39) |
Q541K |
probably benign |
Het |
| Ddx5 |
G |
T |
11: 106,675,261 (GRCm39) |
T358N |
probably damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,766,452 (GRCm39) |
V1297E |
probably benign |
Het |
| Eif2d |
C |
A |
1: 131,082,950 (GRCm39) |
T98K |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,533,077 (GRCm39) |
D124G |
probably damaging |
Het |
| Gamt |
T |
G |
10: 80,094,243 (GRCm39) |
I223L |
possibly damaging |
Het |
| Gbp7 |
T |
C |
3: 142,240,402 (GRCm39) |
V40A |
probably damaging |
Het |
| Gm11992 |
A |
G |
11: 8,999,165 (GRCm39) |
E7G |
probably damaging |
Het |
| Gml2 |
A |
G |
15: 74,692,379 (GRCm39) |
|
probably null |
Het |
| Grem2 |
A |
G |
1: 174,664,813 (GRCm39) |
V12A |
probably benign |
Het |
| Gsta1 |
T |
A |
9: 78,139,577 (GRCm39) |
I19N |
probably damaging |
Het |
| Gstt2 |
T |
C |
10: 75,667,736 (GRCm39) |
I240V |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,392,291 (GRCm39) |
L185S |
possibly damaging |
Het |
| Hsd3b7 |
G |
A |
7: 127,400,419 (GRCm39) |
|
probably null |
Het |
| Ift22 |
T |
A |
5: 136,940,638 (GRCm39) |
M101K |
probably benign |
Het |
| Irs1 |
A |
G |
1: 82,267,802 (GRCm39) |
V138A |
probably benign |
Het |
| Ky |
A |
G |
9: 102,419,141 (GRCm39) |
M383V |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,946,005 (GRCm39) |
E796G |
probably damaging |
Het |
| Lcp2 |
A |
G |
11: 34,038,061 (GRCm39) |
Y426C |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,688,601 (GRCm39) |
D755G |
probably damaging |
Het |
| Lrrc43 |
A |
G |
5: 123,639,084 (GRCm39) |
D371G |
probably benign |
Het |
| Lrrc43 |
T |
A |
5: 123,630,470 (GRCm39) |
I111N |
probably damaging |
Het |
| Lrrc74b |
C |
A |
16: 17,376,213 (GRCm39) |
G146* |
probably null |
Het |
| Lrrfip1 |
A |
G |
1: 91,047,874 (GRCm39) |
K479E |
possibly damaging |
Het |
| Lrriq1 |
C |
A |
10: 103,051,055 (GRCm39) |
E566* |
probably null |
Het |
| Mlxipl |
C |
T |
5: 135,161,263 (GRCm39) |
A394V |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,281,819 (GRCm39) |
Y813C |
probably damaging |
Het |
| Nat10 |
T |
A |
2: 103,555,490 (GRCm39) |
E943D |
probably benign |
Het |
| Nectin2 |
T |
A |
7: 19,466,912 (GRCm39) |
K226* |
probably null |
Het |
| Nlrc5 |
T |
G |
8: 95,219,720 (GRCm39) |
S1103R |
probably benign |
Het |
| Nr4a1 |
T |
A |
15: 101,169,641 (GRCm39) |
Y304N |
probably damaging |
Het |
| Ntpcr |
T |
C |
8: 126,474,483 (GRCm39) |
V184A |
probably benign |
Het |
| Or1j13 |
T |
A |
2: 36,369,345 (GRCm39) |
N266Y |
probably damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,978 (GRCm39) |
V149A |
probably benign |
Het |
| Or5t18 |
A |
G |
2: 86,637,191 (GRCm39) |
S51P |
probably benign |
Het |
| Oxr1 |
A |
C |
15: 41,517,030 (GRCm39) |
S65R |
possibly damaging |
Het |
| Pcdhb19 |
A |
T |
18: 37,630,720 (GRCm39) |
I172L |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,795,925 (GRCm39) |
I655N |
possibly damaging |
Het |
| Plekha5 |
C |
A |
6: 140,472,184 (GRCm39) |
T37N |
possibly damaging |
Het |
| Ppp4r1 |
T |
A |
17: 66,118,298 (GRCm39) |
F167I |
probably benign |
Het |
| Ppp4r1 |
C |
T |
17: 66,136,394 (GRCm39) |
A534V |
probably damaging |
Het |
| Ppt2 |
T |
A |
17: 34,846,300 (GRCm39) |
|
probably null |
Het |
| Prrt2 |
A |
T |
7: 126,619,219 (GRCm39) |
V82D |
possibly damaging |
Het |
| Rassf5 |
T |
A |
1: 131,108,366 (GRCm39) |
Y338F |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,596,251 (GRCm39) |
V560I |
possibly damaging |
Het |
| Rcbtb1 |
T |
C |
14: 59,474,127 (GRCm39) |
M90T |
unknown |
Het |
| Rif1 |
T |
A |
2: 51,968,399 (GRCm39) |
L194* |
probably null |
Het |
| Rybp |
A |
T |
6: 100,209,879 (GRCm39) |
I128K |
possibly damaging |
Het |
| Samm50 |
T |
G |
15: 84,098,346 (GRCm39) |
F462V |
possibly damaging |
Het |
| Slain1 |
T |
C |
14: 103,923,200 (GRCm39) |
Y264H |
probably damaging |
Het |
| Slc29a4 |
C |
T |
5: 142,691,156 (GRCm39) |
P12L |
probably benign |
Het |
| Slc6a2 |
T |
C |
8: 93,720,766 (GRCm39) |
I461T |
possibly damaging |
Het |
| Soat2 |
A |
G |
15: 102,069,106 (GRCm39) |
D377G |
probably damaging |
Het |
| Spocd1 |
A |
G |
4: 129,823,893 (GRCm39) |
E230G |
|
Het |
| Tbc1d30 |
T |
A |
10: 121,183,061 (GRCm39) |
K126* |
probably null |
Het |
| Tgfbi |
T |
A |
13: 56,779,997 (GRCm39) |
F515L |
probably damaging |
Het |
| Utf1 |
A |
G |
7: 139,524,704 (GRCm39) |
|
probably benign |
Het |
| Vmn1r206 |
G |
T |
13: 22,804,471 (GRCm39) |
Y245* |
probably null |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,832 (GRCm39) |
S152C |
probably damaging |
Het |
| Zfc3h1 |
C |
A |
10: 115,256,588 (GRCm39) |
Y1519* |
probably null |
Het |
| Zfp248 |
A |
T |
6: 118,407,103 (GRCm39) |
L162H |
possibly damaging |
Het |
| Zfp804a |
T |
A |
2: 82,086,917 (GRCm39) |
F249I |
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 |
|
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 |
|
|
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'- GCACAGCTTCACTTGTAAGAAC -3'
(R):5'- AAGTGAGATCGCACAGTCCAG -3'
Sequencing Primer
(F):5'- CATTTATGGTCACAAAACATCATGTC -3'
(R):5'- GACACTATCAGCAGAGGTTCGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation