Incidental Mutation 'R3422:Pik3cg'
| ID |
267092 |
| 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 |
040640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32254738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 416
(F416L)
|
| 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: F416L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: F416L
| 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: F416L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: F416L
| 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: F416L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: F416L
| 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: F416L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220366
AA Change: F416L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,983,072 (GRCm39) |
D1452G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,984,116 (GRCm39) |
D1800G |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,466,586 (GRCm39) |
T2117A |
possibly damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,782,292 (GRCm39) |
K216M |
probably null |
Het |
| Ccdc73 |
G |
A |
2: 104,782,293 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,193,926 (GRCm39) |
G390D |
probably damaging |
Het |
| Ifit1bl1 |
T |
G |
19: 34,571,350 (GRCm39) |
N369T |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Me2 |
C |
T |
18: 73,924,265 (GRCm39) |
A316T |
probably damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmt2 |
A |
G |
2: 3,285,425 (GRCm39) |
E31G |
possibly damaging |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,882,536 (GRCm39) |
V63L |
possibly damaging |
Het |
| Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
| Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
| Otub1 |
C |
T |
19: 7,176,424 (GRCm39) |
D237N |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
| Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,311 (GRCm39) |
K756R |
probably benign |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,773 (GRCm39) |
I189V |
probably benign |
Het |
| Vsig2 |
G |
A |
9: 37,452,775 (GRCm39) |
V195I |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
| Zfp91 |
G |
A |
19: 12,747,656 (GRCm39) |
A489V |
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 |
|
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 |
|
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'- GCCAGATATCTGCCACATGTG -3'
(R):5'- ACTGCGACCGAAAGTTCAG -3'
Sequencing Primer
(F):5'- TGTGGAGCACATAGTCCCC -3'
(R):5'- CCGAAAGTTCAGGGTCAAGATC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation