Incidental Mutation 'R3740:Pik3cg'
ID |
270344 |
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 |
040726-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3740 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32255223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 255
(K255E)
|
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: K255E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000062864 Gene: ENSMUSG00000020573 AA Change: K255E
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: K255E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082596 Gene: ENSMUSG00000020573 AA Change: K255E
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: K255E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123539 Gene: ENSMUSG00000020573 AA Change: K255E
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: K255E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220366
AA Change: K255E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.1314 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
94% (29/31) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,865,535 (GRCm39) |
R103G |
probably benign |
Het |
Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
Bbox1 |
A |
G |
2: 110,135,922 (GRCm39) |
I19T |
possibly damaging |
Het |
Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
Fam174b |
T |
C |
7: 73,390,578 (GRCm39) |
|
probably null |
Het |
Fgfr1op2 |
A |
G |
6: 146,496,731 (GRCm39) |
I190V |
possibly damaging |
Het |
Flt1 |
G |
A |
5: 147,536,403 (GRCm39) |
R813W |
probably damaging |
Het |
Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
Hacd3 |
T |
C |
9: 64,928,755 (GRCm39) |
E24G |
possibly damaging |
Het |
Kat6b |
T |
G |
14: 21,720,112 (GRCm39) |
M1488R |
probably damaging |
Het |
Kcnk3 |
T |
C |
5: 30,779,274 (GRCm39) |
V108A |
possibly damaging |
Het |
Kif5a |
A |
G |
10: 127,079,337 (GRCm39) |
I287T |
probably damaging |
Het |
Mical1 |
A |
C |
10: 41,355,067 (GRCm39) |
D192A |
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
Optn |
C |
A |
2: 5,039,009 (GRCm39) |
M371I |
possibly damaging |
Het |
Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
Serpinb6e |
T |
A |
13: 34,022,943 (GRCm39) |
I147F |
probably benign |
Het |
Slc13a1 |
T |
C |
6: 24,134,476 (GRCm39) |
M136V |
probably damaging |
Het |
Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,620,703 (GRCm39) |
K13995* |
probably null |
Het |
Vmn1r225 |
A |
G |
17: 20,723,261 (GRCm39) |
Q234R |
possibly damaging |
Het |
Vmn2r107 |
A |
G |
17: 20,595,151 (GRCm39) |
N568S |
probably benign |
Het |
Zfp605 |
G |
T |
5: 110,276,564 (GRCm39) |
G561W |
probably damaging |
Het |
Zfp69 |
T |
A |
4: 120,788,071 (GRCm39) |
|
probably null |
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 |
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'- ACTCCAGTGCAGTCATCCAC -3'
(R):5'- TATGCACCCTTGGGTAACGTC -3'
Sequencing Primer
(F):5'- CTCATCAAGGGCTGGGTCTG -3'
(R):5'- TTGGGTAACGTCCAAACCTC -3'
|
Posted On |
2015-03-18 |