Incidental Mutation 'R7089:Pik3cg'
| ID |
550098 |
| 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 |
045183-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7089 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32226845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1014
(V1014A)
|
| 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: V1014A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: V1014A
| 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: V1014A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: V1014A
| 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: V1014A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: V1014A
| 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 |
silent
Transcript: ENSMUST00000217915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220366
AA Change: V1014A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,226,927 (GRCm39) |
V494A |
probably benign |
Het |
| 1700017B05Rik |
A |
T |
9: 57,166,041 (GRCm39) |
L111Q |
probably damaging |
Het |
| Adgrf4 |
T |
G |
17: 42,977,424 (GRCm39) |
I640L |
possibly damaging |
Het |
| Afdn |
T |
G |
17: 14,111,074 (GRCm39) |
|
probably null |
Het |
| Ammecr1l |
A |
T |
18: 31,894,877 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,375,808 (GRCm39) |
Y879F |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,862,181 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
G |
T |
9: 111,955,514 (GRCm39) |
H542N |
probably benign |
Het |
| Ccdc192 |
C |
T |
18: 57,725,059 (GRCm39) |
T96I |
probably benign |
Het |
| Cdt1 |
G |
A |
8: 123,298,719 (GRCm39) |
R452Q |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,372,667 (GRCm39) |
H149Y |
|
Het |
| Clpp |
T |
G |
17: 57,297,421 (GRCm39) |
W32G |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,819,785 (GRCm39) |
L1572M |
probably damaging |
Het |
| Drd3 |
G |
T |
16: 43,627,741 (GRCm39) |
R128S |
probably damaging |
Het |
| Elmo2 |
A |
T |
2: 165,146,849 (GRCm39) |
F243I |
possibly damaging |
Het |
| Endou |
G |
A |
15: 97,618,126 (GRCm39) |
P128L |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,908,214 (GRCm39) |
M2596T |
probably benign |
Het |
| Fbxl16 |
A |
G |
17: 26,035,703 (GRCm39) |
K100R |
probably benign |
Het |
| Fbxo10 |
A |
G |
4: 45,062,230 (GRCm39) |
S99P |
possibly damaging |
Het |
| Fez1 |
A |
T |
9: 36,778,999 (GRCm39) |
R225S |
probably benign |
Het |
| Gm14326 |
A |
T |
2: 177,588,464 (GRCm39) |
H177Q |
probably damaging |
Het |
| Gm32742 |
T |
A |
9: 51,054,546 (GRCm39) |
M1360L |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,271,677 (GRCm39) |
V2481A |
possibly damaging |
Het |
| Ifnl3 |
A |
G |
7: 28,223,283 (GRCm39) |
K101E |
probably benign |
Het |
| Il15 |
A |
T |
8: 83,064,204 (GRCm39) |
S77R |
probably damaging |
Het |
| Ints13 |
T |
C |
6: 146,476,216 (GRCm39) |
D95G |
probably damaging |
Het |
| Kcmf1 |
G |
A |
6: 72,819,929 (GRCm39) |
P357S |
probably benign |
Het |
| Kcmf1 |
G |
T |
6: 72,825,289 (GRCm39) |
T268K |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,748,153 (GRCm39) |
I3057N |
unknown |
Het |
| Lgi2 |
A |
G |
5: 52,695,832 (GRCm39) |
F376L |
probably damaging |
Het |
| Lrig3 |
T |
G |
10: 125,832,993 (GRCm39) |
L289R |
probably damaging |
Het |
| Mafk |
A |
G |
5: 139,785,876 (GRCm39) |
S25G |
probably benign |
Het |
| Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
| Nalcn |
A |
C |
14: 123,515,761 (GRCm39) |
I1680R |
probably benign |
Het |
| Or13d1 |
C |
T |
4: 52,971,470 (GRCm39) |
P283L |
probably damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,902 (GRCm39) |
K90N |
probably benign |
Het |
| Or5g26 |
C |
T |
2: 85,494,518 (GRCm39) |
V87M |
possibly damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,701 (GRCm39) |
N83K |
probably benign |
Het |
| Otof |
A |
C |
5: 30,528,912 (GRCm39) |
I1827S |
possibly damaging |
Het |
| Oxgr1 |
A |
G |
14: 120,259,614 (GRCm39) |
Y198H |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,784,559 (GRCm39) |
N645I |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,889,691 (GRCm39) |
T158A |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,206,315 (GRCm39) |
R608C |
probably damaging |
Het |
| Pdia5 |
T |
C |
16: 35,228,049 (GRCm39) |
T408A |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,399,374 (GRCm39) |
T2180A |
probably damaging |
Het |
| Rabgap1l |
A |
T |
1: 160,551,742 (GRCm39) |
Y245* |
probably null |
Het |
| Rerg |
T |
C |
6: 137,044,033 (GRCm39) |
T28A |
possibly damaging |
Het |
| Rhcg |
A |
G |
7: 79,249,216 (GRCm39) |
I335T |
probably damaging |
Het |
| Rmnd1 |
C |
T |
10: 4,353,873 (GRCm39) |
V78I |
probably damaging |
Het |
| Ryr2 |
A |
C |
13: 11,664,662 (GRCm39) |
V3547G |
probably benign |
Het |
| Scnn1a |
C |
A |
6: 125,314,770 (GRCm39) |
Q324K |
probably benign |
Het |
| Serpinb6e |
G |
A |
13: 34,016,698 (GRCm39) |
T345I |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,668,955 (GRCm39) |
T1687A |
probably benign |
Het |
| Smim45 |
A |
T |
15: 82,136,774 (GRCm39) |
|
probably benign |
Het |
| Speer4f2 |
A |
C |
5: 17,581,661 (GRCm39) |
H201P |
|
Het |
| Spef2 |
G |
A |
15: 9,725,257 (GRCm39) |
R167C |
probably damaging |
Het |
| Srp68 |
A |
G |
11: 116,162,733 (GRCm39) |
|
probably null |
Het |
| Tbc1d14 |
A |
T |
5: 36,669,884 (GRCm39) |
F455I |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,432,006 (GRCm39) |
V10A |
possibly damaging |
Het |
| Tlr3 |
A |
T |
8: 45,850,810 (GRCm39) |
S696T |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,978,709 (GRCm39) |
N300S |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,637,150 (GRCm39) |
I328M |
probably damaging |
Het |
| Tpm3 |
C |
T |
3: 89,980,029 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,758,833 (GRCm39) |
L63Q |
probably damaging |
Het |
| Unc5b |
G |
A |
10: 60,613,265 (GRCm39) |
R324C |
probably damaging |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,204 (GRCm39) |
N107K |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,656,100 (GRCm39) |
T770A |
|
Het |
| Zcchc2 |
C |
A |
1: 105,958,211 (GRCm39) |
P894Q |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,303,229 (GRCm39) |
V1585A |
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 |
|
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 |
|
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'- AGTTAAACTGCACAGTCCATCC -3'
(R):5'- AGACCTGCCTTGTTCACAAAG -3'
Sequencing Primer
(F):5'- CTGCAGACTTCGATCTGATCAAGG -3'
(R):5'- GACCTGCCTTGTTCACAAAGAGTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation