Incidental Mutation 'R0573:Pik3cg'
| ID |
46546 |
| 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 |
038763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0573 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32247196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 842
(M842I)
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000126814
|
| 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 |
0.4942 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
97% (60/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,455,278 (GRCm39) |
K698N |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,694,044 (GRCm39) |
V411D |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,475,036 (GRCm39) |
E1550V |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,011,406 (GRCm39) |
I306K |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,445,746 (GRCm39) |
|
probably benign |
Het |
| Basp1 |
G |
T |
15: 25,364,948 (GRCm39) |
D16E |
unknown |
Het |
| Cbll1 |
A |
T |
12: 31,540,539 (GRCm39) |
I123N |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,869,837 (GRCm39) |
H889Q |
probably benign |
Het |
| Ccdc65 |
T |
C |
15: 98,618,930 (GRCm39) |
V303A |
probably benign |
Het |
| Ceacam20 |
T |
A |
7: 19,720,593 (GRCm39) |
M60K |
probably damaging |
Het |
| Chd9 |
T |
A |
8: 91,725,223 (GRCm39) |
V711D |
probably damaging |
Het |
| Clcn1 |
T |
A |
6: 42,289,979 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
A |
T |
4: 129,962,268 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
C |
A |
1: 82,694,084 (GRCm39) |
P1568Q |
possibly damaging |
Het |
| Colec12 |
C |
A |
18: 9,858,650 (GRCm39) |
P478T |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,407,985 (GRCm39) |
H1949R |
probably damaging |
Het |
| Dgka |
A |
G |
10: 128,572,876 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
A |
G |
2: 156,588,111 (GRCm39) |
I669V |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,412,298 (GRCm39) |
D543E |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,271,906 (GRCm39) |
C677* |
probably null |
Het |
| Eml5 |
A |
C |
12: 98,791,031 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
A |
2: 125,231,169 (GRCm39) |
R466C |
probably damaging |
Het |
| Fnbp1 |
C |
A |
2: 30,948,990 (GRCm39) |
D198Y |
probably damaging |
Het |
| Gfra3 |
T |
A |
18: 34,824,668 (GRCm39) |
M272L |
probably benign |
Het |
| Gm5422 |
T |
A |
10: 31,126,156 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr21 |
T |
A |
2: 37,407,556 (GRCm39) |
I34N |
probably damaging |
Het |
| Hspb2 |
G |
T |
9: 50,662,664 (GRCm39) |
T155K |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,224,457 (GRCm39) |
T24A |
probably benign |
Het |
| Mmadhc |
T |
A |
2: 50,182,847 (GRCm39) |
H43L |
possibly damaging |
Het |
| Morn1 |
T |
A |
4: 155,195,473 (GRCm39) |
D278E |
possibly damaging |
Het |
| Myoc |
T |
C |
1: 162,476,243 (GRCm39) |
Y316H |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,037,805 (GRCm39) |
D266G |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,142 (GRCm39) |
N115S |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,056 (GRCm39) |
I260N |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,926,905 (GRCm39) |
R6190C |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,624 (GRCm39) |
V174A |
possibly damaging |
Het |
| Or5be3 |
A |
G |
2: 86,863,812 (GRCm39) |
F251S |
probably damaging |
Het |
| Orc4 |
C |
T |
2: 48,807,285 (GRCm39) |
M215I |
probably benign |
Het |
| Osbpl6 |
A |
T |
2: 76,420,735 (GRCm39) |
H770L |
probably damaging |
Het |
| Otogl |
A |
C |
10: 107,616,849 (GRCm39) |
N1809K |
probably benign |
Het |
| Pde3a |
G |
T |
6: 141,437,957 (GRCm39) |
V1009L |
probably damaging |
Het |
| Pign |
T |
C |
1: 105,580,902 (GRCm39) |
Y159C |
probably damaging |
Het |
| Pnliprp1 |
C |
T |
19: 58,723,314 (GRCm39) |
T235I |
possibly damaging |
Het |
| Pramel17 |
A |
C |
4: 101,692,611 (GRCm39) |
V463G |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,480 (GRCm39) |
N239D |
probably damaging |
Het |
| Psd2 |
T |
A |
18: 36,113,546 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
T |
C |
2: 161,393,668 (GRCm39) |
D1251G |
probably damaging |
Het |
| Pwp2 |
G |
A |
10: 78,018,520 (GRCm39) |
S88L |
probably benign |
Het |
| Rassf4 |
C |
T |
6: 116,624,516 (GRCm39) |
|
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,380,684 (GRCm39) |
S884P |
probably damaging |
Het |
| Rgs20 |
C |
A |
1: 5,091,037 (GRCm39) |
R131L |
possibly damaging |
Het |
| Setd4 |
A |
G |
16: 93,386,834 (GRCm39) |
V288A |
probably benign |
Het |
| Stx3 |
G |
T |
19: 11,763,110 (GRCm39) |
T160K |
probably damaging |
Het |
| Tas2r102 |
T |
A |
6: 132,739,636 (GRCm39) |
S181R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 49,127,434 (GRCm39) |
|
probably benign |
Het |
| Tmem33 |
T |
C |
5: 67,421,603 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,259,306 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,853,119 (GRCm39) |
I491T |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,058,653 (GRCm39) |
|
probably benign |
Het |
| Tuba4a |
T |
C |
1: 75,193,017 (GRCm39) |
D199G |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,953,321 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zp2 |
C |
T |
7: 119,734,693 (GRCm39) |
|
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 |
|
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 |
|
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'- ACCGTTCACCTGCATAATCACCTG -3'
(R):5'- CCACGGCCTTACAGATCGAGAAATG -3'
Sequencing Primer
(F):5'- CTTCCATGCATAGAATGGAGTG -3'
(R):5'- ATGCAAAGTGATGGCCTCC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation