Incidental Mutation 'R7974:Pik3cg'
| ID |
650792 |
| 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 |
046017-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7974 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32254031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 652
(E652G)
|
| 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: E652G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: E652G
| 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: E652G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: E652G
| 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: E652G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: E652G
| 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: E652G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220366
AA Change: E652G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,033,405 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
A |
T |
18: 59,144,094 (GRCm39) |
Q892L |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,886,668 (GRCm39) |
|
probably null |
Het |
| Aftph |
T |
C |
11: 20,648,233 (GRCm39) |
*686W |
probably null |
Het |
| AI661453 |
T |
C |
17: 47,777,006 (GRCm39) |
L244P |
unknown |
Het |
| Ankar |
C |
A |
1: 72,738,138 (GRCm39) |
E15* |
probably null |
Het |
| Ankrd39 |
A |
G |
1: 36,585,999 (GRCm39) |
|
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,478 (GRCm39) |
D56G |
probably damaging |
Het |
| Blmh |
T |
C |
11: 76,856,729 (GRCm39) |
I245T |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,056 (GRCm39) |
F87S |
probably damaging |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,523 (GRCm39) |
K61E |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,915,231 (GRCm39) |
G914D |
probably damaging |
Het |
| Cep126 |
T |
A |
9: 8,120,764 (GRCm39) |
K86N |
probably benign |
Het |
| Cfap70 |
A |
T |
14: 20,470,818 (GRCm39) |
F532I |
probably damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,358,006 (GRCm39) |
L506Q |
probably damaging |
Het |
| Dct |
A |
C |
14: 118,277,067 (GRCm39) |
I273S |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,788,229 (GRCm39) |
I769V |
probably benign |
Het |
| Dus2 |
G |
A |
8: 106,762,652 (GRCm39) |
E138K |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,279,425 (GRCm39) |
S305P |
possibly damaging |
Het |
| Erp27 |
A |
T |
6: 136,885,063 (GRCm39) |
V245D |
probably damaging |
Het |
| Fez1 |
C |
A |
9: 36,755,244 (GRCm39) |
T81K |
probably damaging |
Het |
| Gli3 |
A |
C |
13: 15,900,841 (GRCm39) |
Q1409H |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,353,219 (GRCm39) |
S664G |
possibly damaging |
Het |
| Hibadh |
A |
G |
6: 52,534,880 (GRCm39) |
S167P |
probably benign |
Het |
| Hsdl1 |
A |
G |
8: 120,293,072 (GRCm39) |
V121A |
probably benign |
Het |
| Ift70a1 |
T |
C |
2: 75,810,688 (GRCm39) |
H465R |
probably damaging |
Het |
| Ighv1-18 |
A |
C |
12: 114,646,669 (GRCm39) |
I6S |
possibly damaging |
Het |
| Iqcm |
T |
A |
8: 76,281,520 (GRCm39) |
M1K |
probably null |
Het |
| Itch |
T |
C |
2: 155,034,079 (GRCm39) |
F417S |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,500,366 (GRCm39) |
T2653I |
possibly damaging |
Het |
| Kank1 |
T |
G |
19: 25,401,584 (GRCm39) |
Y1064D |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,505,561 (GRCm39) |
Q3249R |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,385 (GRCm39) |
C318R |
probably damaging |
Het |
| Lmbr1l |
C |
T |
15: 98,809,500 (GRCm39) |
V147I |
probably benign |
Het |
| Meig1 |
C |
A |
2: 3,412,911 (GRCm39) |
E37* |
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,899,180 (GRCm39) |
|
probably null |
Het |
| Muc17 |
T |
C |
5: 137,175,664 (GRCm39) |
N2S |
|
Het |
| Mup7 |
T |
C |
4: 60,067,518 (GRCm39) |
E199G |
possibly damaging |
Het |
| Nol4 |
G |
C |
18: 22,852,082 (GRCm39) |
Y275* |
probably null |
Het |
| Nrxn1 |
G |
A |
17: 91,008,207 (GRCm39) |
P429S |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,672 (GRCm39) |
Y81C |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,829,996 (GRCm39) |
F367L |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,783,980 (GRCm39) |
I301T |
probably benign |
Het |
| Rcn1 |
G |
A |
2: 105,224,055 (GRCm39) |
P163L |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc37a2 |
A |
T |
9: 37,150,421 (GRCm39) |
|
probably null |
Het |
| Slc9b1 |
C |
T |
3: 135,099,791 (GRCm39) |
T437I |
possibly damaging |
Het |
| Smap1 |
T |
G |
1: 23,888,522 (GRCm39) |
T248P |
probably benign |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata20 |
T |
C |
11: 94,374,966 (GRCm39) |
N212S |
possibly damaging |
Het |
| Sphkap |
A |
C |
1: 83,256,683 (GRCm39) |
C355W |
probably damaging |
Het |
| Spopfm2 |
T |
C |
3: 94,082,848 (GRCm39) |
K321R |
probably benign |
Het |
| Spsb1 |
T |
A |
4: 149,991,566 (GRCm39) |
M1L |
probably damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,646,439 (GRCm39) |
|
probably null |
Het |
| Taar5 |
G |
C |
10: 23,847,120 (GRCm39) |
D173H |
possibly damaging |
Het |
| Tfrc |
A |
G |
16: 32,440,101 (GRCm39) |
D438G |
probably null |
Het |
| Tinag |
A |
T |
9: 76,907,131 (GRCm39) |
I368K |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,873,906 (GRCm39) |
W531R |
probably damaging |
Het |
| Tnc |
G |
T |
4: 63,918,961 (GRCm39) |
P1154Q |
possibly damaging |
Het |
| Toporsl |
A |
G |
4: 52,611,645 (GRCm39) |
R513G |
probably damaging |
Het |
| Vat1 |
A |
G |
11: 101,356,956 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn2r107 |
C |
G |
17: 20,577,270 (GRCm39) |
P423A |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,024,808 (GRCm39) |
E591V |
probably damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,281 (GRCm39) |
Y401F |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,414,031 (GRCm39) |
T804I |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,459 (GRCm39) |
I270F |
probably damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,167 (GRCm39) |
F377L |
possibly damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,144,502 (GRCm39) |
S182P |
unknown |
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 |
|
|
R7910:Pik3cg
|
UTSW |
12 |
32,250,516 (GRCm39) |
missense |
probably benign |
0.16 |
|
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'- TTTGACGTGGCTTCATCGGC -3'
(R):5'- CTCTGGCATTTTCGATATGAAAGC -3'
Sequencing Primer
(F):5'- GCACTAGGCTGACTGATCATG -3'
(R):5'- GCTATTCAGCTCAGTGAAATGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation