Incidental Mutation 'R1625:Pik3cg'
| ID |
174991 |
| 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 |
039662-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1625 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32244741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 904
(D904E)
|
| 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: D904E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: D904E
| 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: D904E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: D904E
| 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: D904E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: D904E
| 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: D904E
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220366
AA Change: D904E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,857,947 (GRCm39) |
M605L |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,184,567 (GRCm39) |
S1031T |
probably damaging |
Het |
| Acot7 |
T |
A |
4: 152,270,748 (GRCm39) |
C31S |
probably benign |
Het |
| Acss3 |
A |
T |
10: 106,773,263 (GRCm39) |
|
probably null |
Het |
| Adipor1 |
T |
C |
1: 134,351,802 (GRCm39) |
F83S |
possibly damaging |
Het |
| Agrn |
G |
A |
4: 156,257,317 (GRCm39) |
S1171L |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,952,105 (GRCm39) |
L10Q |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,159 (GRCm39) |
C377S |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,361,699 (GRCm39) |
V721D |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,408,777 (GRCm39) |
A2555T |
probably benign |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,380 (GRCm39) |
L791Q |
probably damaging |
Het |
| Car11 |
A |
G |
7: 45,350,731 (GRCm39) |
K76E |
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,648,068 (GRCm39) |
M1925K |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,866,001 (GRCm39) |
L418Q |
probably damaging |
Het |
| Ccl9 |
G |
A |
11: 83,466,736 (GRCm39) |
R64W |
probably damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,431,668 (GRCm38) |
Y655H |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,739,527 (GRCm39) |
K1325N |
probably damaging |
Het |
| Dars2 |
G |
A |
1: 160,881,614 (GRCm39) |
P305L |
possibly damaging |
Het |
| Ddx11 |
C |
T |
17: 66,457,692 (GRCm39) |
T859I |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,850,433 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,831,839 (GRCm39) |
V570A |
probably benign |
Het |
| Fermt1 |
T |
A |
2: 132,764,751 (GRCm39) |
I369F |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,861,849 (GRCm39) |
Y2161C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,857,837 (GRCm39) |
P2044T |
possibly damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,009,362 (GRCm39) |
I549V |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,246,282 (GRCm39) |
S1020N |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,826,378 (GRCm39) |
S1360P |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,903,350 (GRCm39) |
Y332C |
probably damaging |
Het |
| Ltc4s |
C |
A |
11: 50,128,215 (GRCm39) |
A32S |
possibly damaging |
Het |
| Mgrn1 |
T |
C |
16: 4,728,627 (GRCm39) |
L84P |
probably damaging |
Het |
| Muc2 |
C |
G |
7: 141,283,405 (GRCm39) |
C672W |
probably damaging |
Het |
| Mvp |
A |
T |
7: 126,600,845 (GRCm39) |
V52E |
probably damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,144,420 (GRCm39) |
T269A |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,018,891 (GRCm39) |
D684E |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,168,878 (GRCm39) |
D316G |
probably benign |
Het |
| Or12e7 |
T |
A |
2: 87,288,016 (GRCm39) |
I169K |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,004,071 (GRCm39) |
M161V |
probably benign |
Het |
| Or7d11 |
A |
G |
9: 19,966,678 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,274,971 (GRCm39) |
D520V |
probably benign |
Het |
| Pitpnm2 |
T |
A |
5: 124,271,496 (GRCm39) |
D359V |
probably benign |
Het |
| Ppih |
T |
C |
4: 119,175,779 (GRCm39) |
I69V |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,865 (GRCm39) |
E96G |
possibly damaging |
Het |
| Retreg3 |
C |
A |
11: 100,992,875 (GRCm39) |
M1I |
probably null |
Het |
| Rfpl4 |
C |
T |
7: 5,118,409 (GRCm39) |
V54I |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,993,652 (GRCm39) |
I855T |
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,117,554 (GRCm39) |
I748N |
probably damaging |
Het |
| Sap130 |
T |
A |
18: 31,807,517 (GRCm39) |
N441K |
probably damaging |
Het |
| Sf3b1 |
T |
A |
1: 55,058,536 (GRCm39) |
I18F |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,499 (GRCm39) |
N74D |
unknown |
Het |
| Slc17a6 |
C |
A |
7: 51,311,208 (GRCm39) |
F307L |
probably benign |
Het |
| Slc25a13 |
G |
A |
6: 6,096,675 (GRCm39) |
L410F |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,262,625 (GRCm39) |
V38E |
probably damaging |
Het |
| Slc8a1 |
T |
A |
17: 81,956,670 (GRCm39) |
T123S |
probably damaging |
Het |
| Slc9a5 |
C |
A |
8: 106,094,755 (GRCm39) |
T782K |
possibly damaging |
Het |
| Spmip7 |
C |
A |
11: 11,438,644 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
C |
A |
11: 104,077,995 (GRCm39) |
T265K |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,788 (GRCm39) |
K283R |
probably benign |
Het |
| Ssr1 |
C |
T |
13: 38,173,479 (GRCm39) |
|
probably null |
Het |
| Stard3nl |
T |
C |
13: 19,556,754 (GRCm39) |
|
probably null |
Het |
| Timeless |
G |
T |
10: 128,076,493 (GRCm39) |
S134I |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,494,476 (GRCm39) |
F760L |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,706,333 (GRCm39) |
I368V |
probably benign |
Het |
| Txnrd2 |
G |
T |
16: 18,257,116 (GRCm39) |
W144L |
probably damaging |
Het |
| Unc5d |
T |
C |
8: 29,173,234 (GRCm39) |
E668G |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,570,936 (GRCm39) |
|
probably null |
Het |
| Uts2r |
A |
G |
11: 121,052,033 (GRCm39) |
Y299C |
probably damaging |
Het |
| Vmn1r66 |
G |
T |
7: 10,008,316 (GRCm39) |
T239K |
probably benign |
Het |
| Vps39 |
C |
T |
2: 120,154,106 (GRCm39) |
V630M |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,819,158 (GRCm39) |
T22A |
probably benign |
Het |
| Zfp7 |
T |
A |
15: 76,765,374 (GRCm39) |
D22E |
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 |
|
|
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 |
|
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'- TGTCATCAGGGGAAAACCCCTCAC -3'
(R):5'- CAATCTCCGAGCAAGGAAGGCTAAG -3'
Sequencing Primer
(F):5'- GGAGTAAAACACTCAACCAGTATG -3'
(R):5'- GCTCAGAACTGGAAAACAGATCTTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation