Incidental Mutation 'R1101:Pik3cg'
| ID |
98116 |
| 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 |
039174-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1101 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32245645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 868
(G868S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053215]
[ENSMUST00000085469]
[ENSMUST00000156904]
[ENSMUST00000217915]
[ENSMUST00000220366]
|
| AlphaFold |
Q9JHG7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053215
AA Change: G868S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: G868S
| 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 null
Transcript: ENSMUST00000085469
AA Change: G868S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: G868S
| 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: G868S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: G868S
| 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 null
Transcript: ENSMUST00000217915
AA Change: G868S
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220366
AA Change: G868S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| 2610021A01Rik |
C |
A |
7: 41,276,783 (GRCm39) |
H829N |
probably damaging |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abi3bp |
G |
T |
16: 56,426,521 (GRCm39) |
R512L |
probably damaging |
Het |
| Acot2 |
T |
G |
12: 84,039,624 (GRCm39) |
S378A |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,096,205 (GRCm39) |
I2360T |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,989,625 (GRCm39) |
D155G |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,993,610 (GRCm39) |
V714A |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,587,585 (GRCm39) |
V170I |
possibly damaging |
Het |
| Clcn2 |
G |
A |
16: 20,522,345 (GRCm39) |
T787I |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,599 (GRCm39) |
H131R |
probably damaging |
Het |
| Dct |
T |
G |
14: 118,274,034 (GRCm39) |
D291A |
probably damaging |
Het |
| Dhx37 |
A |
G |
5: 125,492,216 (GRCm39) |
Y1128H |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,684,780 (GRCm39) |
I1174F |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 78,959,467 (GRCm39) |
Y3C |
probably damaging |
Het |
| Enpp5 |
A |
G |
17: 44,392,258 (GRCm39) |
N229S |
possibly damaging |
Het |
| Fam83b |
A |
T |
9: 76,452,952 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Fcamr |
T |
A |
1: 130,742,223 (GRCm39) |
|
probably null |
Het |
| Hdac2 |
G |
A |
10: 36,867,805 (GRCm39) |
V184I |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,981,700 (GRCm39) |
L5Q |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Ireb2 |
T |
A |
9: 54,816,986 (GRCm39) |
H951Q |
probably benign |
Het |
| Lman1 |
T |
A |
18: 66,120,969 (GRCm39) |
M418L |
probably benign |
Het |
| Lrrfip2 |
C |
T |
9: 111,019,293 (GRCm39) |
R275W |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,239,307 (GRCm39) |
I424F |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,802,584 (GRCm39) |
D147G |
probably benign |
Het |
| Mtr |
C |
A |
13: 12,204,411 (GRCm39) |
E1128D |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,790,932 (GRCm39) |
S534R |
probably benign |
Het |
| Or4c107 |
A |
T |
2: 88,789,328 (GRCm39) |
I173F |
possibly damaging |
Het |
| Or4k42 |
T |
C |
2: 111,319,787 (GRCm39) |
T239A |
probably damaging |
Het |
| Or5k1 |
A |
G |
16: 58,617,615 (GRCm39) |
V198A |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,707,828 (GRCm39) |
D882V |
probably damaging |
Het |
| Plppr5 |
T |
G |
3: 117,456,172 (GRCm39) |
M231R |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,638,897 (GRCm39) |
T46A |
probably benign |
Het |
| Ppp4r3a |
C |
A |
12: 101,017,830 (GRCm39) |
R440L |
probably damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,444,071 (GRCm39) |
T364S |
probably benign |
Het |
| Sirt3 |
A |
G |
7: 140,449,541 (GRCm39) |
V135A |
possibly damaging |
Het |
| Supt16 |
T |
C |
14: 52,408,896 (GRCm39) |
N826S |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,083 (GRCm39) |
I11T |
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,609,419 (GRCm39) |
E407G |
possibly damaging |
Het |
| Vps72 |
C |
A |
3: 95,026,487 (GRCm39) |
T144K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACCGAGAGTCTCTTTCCAGCC -3'
(R):5'- TGGAGCCCACTATGCACTGAAAC -3'
Sequencing Primer
(F):5'- AGCCTGGGAACATTTCCTC -3'
(R):5'- AGCAACCAGTTAATGTTTGGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation