Incidental Mutation 'R7372:Pik3cg'
| ID |
572173 |
| 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 |
045455-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7372 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32247196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 842
(M842I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053215]
[ENSMUST00000085469]
[ENSMUST00000156904]
[ENSMUST00000217915]
[ENSMUST00000220366]
|
| AlphaFold |
Q9JHG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053215
AA Change: M842I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: M842I
| 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: M842I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: M842I
| 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: ENSMUST00000156904
AA Change: M842I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: M842I
| 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: M842I
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220366
AA Change: M842I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.4944 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
G |
A |
1: 156,450,189 (GRCm39) |
V119M |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,399,100 (GRCm39) |
V454A |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,453,784 (GRCm39) |
D200E |
probably benign |
Het |
| Adarb1 |
T |
A |
10: 77,131,712 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
C |
T |
1: 92,934,088 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
C |
19: 57,924,078 (GRCm39) |
V1281A |
possibly damaging |
Het |
| Brdt |
A |
G |
5: 107,518,160 (GRCm39) |
E761G |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,987,718 (GRCm39) |
I2678N |
unknown |
Het |
| C2cd2 |
A |
T |
16: 97,676,580 (GRCm39) |
C136S |
|
Het |
| Camk4 |
A |
G |
18: 33,318,178 (GRCm39) |
D445G |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,864,624 (GRCm39) |
T26A |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,798,857 (GRCm39) |
|
probably null |
Het |
| Cept1 |
A |
G |
3: 106,411,056 (GRCm39) |
F379S |
probably benign |
Het |
| Crhr1 |
A |
G |
11: 104,054,719 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
T |
C |
16: 91,509,085 (GRCm39) |
E72G |
probably benign |
Het |
| Ctnnal1 |
T |
A |
4: 56,826,285 (GRCm39) |
E526V |
possibly damaging |
Het |
| Cyp3a41a |
T |
C |
5: 145,650,374 (GRCm39) |
I90V |
possibly damaging |
Het |
| Dek |
T |
C |
13: 47,259,053 (GRCm39) |
E51G |
unknown |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,432 (GRCm39) |
D138V |
probably damaging |
Het |
| Evc2 |
T |
A |
5: 37,544,477 (GRCm39) |
V742E |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,358 (GRCm39) |
V1084M |
probably damaging |
Het |
| Fscb |
G |
A |
12: 64,518,598 (GRCm39) |
T956I |
unknown |
Het |
| Glipr2 |
T |
C |
4: 43,968,184 (GRCm39) |
L29P |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,261 (GRCm39) |
S111T |
unknown |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
T |
C |
14: 30,738,843 (GRCm39) |
K115E |
probably benign |
Het |
| Gpn1 |
T |
A |
5: 31,658,465 (GRCm39) |
F147I |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,737,618 (GRCm39) |
L232H |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,880,216 (GRCm39) |
V500A |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,214,267 (GRCm39) |
E55G |
probably benign |
Het |
| Hs2st1 |
A |
T |
3: 144,141,221 (GRCm39) |
|
probably null |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,486 (GRCm39) |
V37A |
probably damaging |
Het |
| Iqsec3 |
C |
A |
6: 121,360,991 (GRCm39) |
E956* |
probably null |
Het |
| Kcnh8 |
T |
A |
17: 53,201,129 (GRCm39) |
I521K |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,437,592 (GRCm39) |
M531K |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,648,671 (GRCm39) |
|
probably null |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lcor |
T |
C |
19: 41,573,945 (GRCm39) |
L900P |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,149,014 (GRCm39) |
D598G |
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,060,425 (GRCm39) |
V1387A |
possibly damaging |
Het |
| Nin |
T |
A |
12: 70,102,803 (GRCm39) |
E275V |
|
Het |
| Or5p68 |
A |
G |
7: 107,945,703 (GRCm39) |
F162L |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,816,439 (GRCm39) |
I698T |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,639,840 (GRCm39) |
N789D |
probably benign |
Het |
| Pnn |
T |
A |
12: 59,115,765 (GRCm39) |
D135E |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,192,847 (GRCm39) |
R5L |
possibly damaging |
Het |
| Prl8a1 |
A |
T |
13: 27,758,089 (GRCm39) |
F207I |
probably damaging |
Het |
| Prr11 |
A |
G |
11: 86,989,600 (GRCm39) |
V257A |
probably benign |
Het |
| Prtg |
C |
T |
9: 72,758,848 (GRCm39) |
R401* |
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,635 (GRCm39) |
M651T |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
| Snx13 |
A |
T |
12: 35,128,950 (GRCm39) |
I23L |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,576,000 (GRCm39) |
L429P |
probably damaging |
Het |
| Spta1 |
C |
T |
1: 174,025,201 (GRCm39) |
Q689* |
probably null |
Het |
| Spty2d1 |
T |
C |
7: 46,648,692 (GRCm39) |
D79G |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,515 (GRCm39) |
|
probably null |
Het |
| Tnxb |
T |
C |
17: 34,936,228 (GRCm39) |
F2722L |
possibly damaging |
Het |
| Tppp2 |
C |
T |
14: 52,156,865 (GRCm39) |
R81C |
probably benign |
Het |
| Trim6 |
G |
T |
7: 103,881,843 (GRCm39) |
A391S |
probably benign |
Het |
| Trim69 |
A |
C |
2: 122,009,064 (GRCm39) |
T375P |
possibly damaging |
Het |
| Trim72 |
A |
G |
7: 127,603,858 (GRCm39) |
N68S |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,726,208 (GRCm39) |
V386I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,778,275 (GRCm39) |
I1371V |
unknown |
Het |
| Usp17lb |
A |
T |
7: 104,490,913 (GRCm39) |
|
probably null |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,468 (GRCm39) |
L772Q |
probably damaging |
Het |
| Ypel3 |
A |
G |
7: 126,379,200 (GRCm39) |
E91G |
probably benign |
Het |
| Zbtb21 |
C |
T |
16: 97,751,569 (GRCm39) |
E905K |
possibly damaging |
Het |
| Zfp189 |
T |
A |
4: 49,530,417 (GRCm39) |
C507S |
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 |
|
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'- TACACATCTTTGAAAGGACAGAGAG -3'
(R):5'- GGCCCCTGTGTTTAGCAATG -3'
Sequencing Primer
(F):5'- GAACTAAGGCGCTAGTAAAACTTATC -3'
(R):5'- GAGAGAATCTGTATCTCCTCCATGTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation