Incidental Mutation 'R4595:Copg2'
| ID |
344318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copg2
|
| Ensembl Gene |
ENSMUSG00000025607 |
| Gene Name |
coatomer protein complex, subunit gamma 2 |
| Synonyms |
|
| MMRRC Submission |
041811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R4595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30747552-30873712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30749449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 814
(D814G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048774]
[ENSMUST00000124665]
[ENSMUST00000157040]
[ENSMUST00000163949]
[ENSMUST00000166192]
|
| AlphaFold |
Q9QXK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048774
AA Change: D814G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038368
Gene: ENSMUSG00000025607
AA Change: D814G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
23 |
539 |
2.6e-134 |
PFAM |
|
Pfam:COP-gamma_platf
|
609 |
756 |
7.7e-66 |
PFAM |
|
Pfam:Coatomer_g_Cpla
|
758 |
870 |
1.6e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124665
|
| SMART Domains |
Protein: ENSMUSP00000117713
Gene: ENSMUSG00000051855
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1057
|
50 |
183 |
3.9e-9 |
PFAM |
|
Pfam:Abhydrolase_6
|
79 |
198 |
7.8e-21 |
PFAM |
|
Pfam:Abhydrolase_1
|
104 |
191 |
4.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157040
|
| SMART Domains |
Protein: ENSMUSP00000119038
Gene: ENSMUSG00000051855
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1057
|
34 |
167 |
3.1e-9 |
PFAM |
|
Pfam:Abhydrolase_6
|
63 |
182 |
6.2e-21 |
PFAM |
|
Pfam:Abhydrolase_1
|
88 |
176 |
4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163949
|
| SMART Domains |
Protein: ENSMUSP00000129639
Gene: ENSMUSG00000051855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:DUF1057
|
43 |
176 |
7.1e-9 |
PFAM |
|
Pfam:Abhydrolase_1
|
70 |
321 |
2.5e-16 |
PFAM |
|
Pfam:Abhydrolase_5
|
71 |
315 |
5.9e-9 |
PFAM |
|
Pfam:Abhydrolase_6
|
72 |
327 |
7.1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166192
AA Change: D813G
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126726
Gene: ENSMUSG00000025607
AA Change: D813G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
23 |
380 |
6.5e-92 |
PFAM |
|
| Meta Mutation Damage Score |
0.1454 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (62/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 4921536K21Rik |
A |
G |
11: 3,840,052 (GRCm39) |
I115T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,251,123 (GRCm39) |
N120K |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,167,139 (GRCm39) |
C118S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,422,819 (GRCm39) |
T1493A |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,208,268 (GRCm39) |
Y480H |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,417,896 (GRCm39) |
I86N |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,945,023 (GRCm39) |
E1477G |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,202,986 (GRCm39) |
N368S |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,794,710 (GRCm39) |
F152L |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,232,320 (GRCm39) |
D881V |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,678 (GRCm39) |
V212A |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,902,352 (GRCm39) |
K196N |
probably benign |
Het |
| Dcaf13 |
G |
A |
15: 38,982,288 (GRCm39) |
G85R |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 66,058,978 (GRCm39) |
S106P |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,983,085 (GRCm39) |
D739G |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,316,089 (GRCm39) |
M283K |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,207,159 (GRCm39) |
T208A |
probably benign |
Het |
| Glul |
G |
A |
1: 153,778,796 (GRCm39) |
G35D |
possibly damaging |
Het |
| Gm14412 |
T |
C |
2: 177,007,005 (GRCm39) |
K297E |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,442,318 (GRCm39) |
R120W |
probably damaging |
Het |
| Hipk3 |
T |
A |
2: 104,271,622 (GRCm39) |
T437S |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lipn |
T |
G |
19: 34,058,750 (GRCm39) |
Y321D |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,152,810 (GRCm39) |
V484A |
probably benign |
Het |
| Madd |
T |
C |
2: 90,998,009 (GRCm39) |
D673G |
possibly damaging |
Het |
| Marveld1 |
T |
A |
19: 42,136,203 (GRCm39) |
L39Q |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,807 (GRCm39) |
T299A |
possibly damaging |
Het |
| Micu3 |
T |
C |
8: 40,812,438 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,667 (GRCm39) |
V234A |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
| Or4a15 |
C |
T |
2: 89,193,669 (GRCm39) |
V35M |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,997 (GRCm39) |
D268G |
possibly damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,568 (GRCm39) |
D232E |
probably damaging |
Het |
| Pebp1 |
G |
T |
5: 117,421,475 (GRCm39) |
D156E |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,937,459 (GRCm39) |
Y745H |
possibly damaging |
Het |
| Pld2 |
T |
C |
11: 70,432,846 (GRCm39) |
L170P |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,644,603 (GRCm39) |
M394K |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 87,271,754 (GRCm39) |
Y57H |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,731 (GRCm39) |
I979V |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 76,910,689 (GRCm39) |
I447V |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,663,663 (GRCm39) |
K607R |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,013,845 (GRCm39) |
Q3012L |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,441 (GRCm39) |
F9I |
possibly damaging |
Het |
| Tex35 |
T |
A |
1: 156,926,909 (GRCm39) |
Y195F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,913,982 (GRCm39) |
T1277A |
probably damaging |
Het |
| Tnfsf15 |
G |
T |
4: 63,648,180 (GRCm39) |
Y153* |
probably null |
Het |
| Trim5 |
C |
A |
7: 103,914,639 (GRCm39) |
V477F |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,148,874 (GRCm39) |
I245T |
probably damaging |
Het |
| Zbtb16 |
C |
T |
9: 48,743,380 (GRCm39) |
E311K |
possibly damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,849,000 (GRCm39) |
D165G |
probably damaging |
Het |
|
| Other mutations in Copg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02324:Copg2
|
APN |
6 |
30,840,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02511:Copg2
|
APN |
6 |
30,835,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0612:Copg2
|
UTSW |
6 |
30,838,404 (GRCm39) |
splice site |
probably null |
|
|
R0723:Copg2
|
UTSW |
6 |
30,792,917 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0742:Copg2
|
UTSW |
6 |
30,840,548 (GRCm39) |
splice site |
probably null |
|
|
R1708:Copg2
|
UTSW |
6 |
30,801,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Copg2
|
UTSW |
6 |
30,787,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Copg2
|
UTSW |
6 |
30,789,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2011:Copg2
|
UTSW |
6 |
30,793,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2170:Copg2
|
UTSW |
6 |
30,789,757 (GRCm39) |
frame shift |
probably null |
|
|
R2358:Copg2
|
UTSW |
6 |
30,803,168 (GRCm39) |
nonsense |
probably null |
|
|
R2393:Copg2
|
UTSW |
6 |
30,787,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2512:Copg2
|
UTSW |
6 |
30,873,591 (GRCm39) |
splice site |
probably null |
|
|
R4613:Copg2
|
UTSW |
6 |
30,788,531 (GRCm39) |
missense |
probably benign |
|
|
R5243:Copg2
|
UTSW |
6 |
30,750,626 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5293:Copg2
|
UTSW |
6 |
30,803,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6019:Copg2
|
UTSW |
6 |
30,787,868 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6235:Copg2
|
UTSW |
6 |
30,793,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6605:Copg2
|
UTSW |
6 |
30,835,757 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6857:Copg2
|
UTSW |
6 |
30,840,533 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7132:Copg2
|
UTSW |
6 |
30,792,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7216:Copg2
|
UTSW |
6 |
30,862,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7223:Copg2
|
UTSW |
6 |
30,789,689 (GRCm39) |
nonsense |
probably null |
|
|
R7288:Copg2
|
UTSW |
6 |
30,801,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7588:Copg2
|
UTSW |
6 |
30,788,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7993:Copg2
|
UTSW |
6 |
30,793,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Copg2
|
UTSW |
6 |
30,873,632 (GRCm39) |
start codon destroyed |
possibly damaging |
0.63 |
|
R8191:Copg2
|
UTSW |
6 |
30,790,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8273:Copg2
|
UTSW |
6 |
30,793,061 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8853:Copg2
|
UTSW |
6 |
30,803,115 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9256:Copg2
|
UTSW |
6 |
30,788,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9377:Copg2
|
UTSW |
6 |
30,793,721 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9443:Copg2
|
UTSW |
6 |
30,750,578 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9451:Copg2
|
UTSW |
6 |
30,793,786 (GRCm39) |
splice site |
probably benign |
|
|
R9523:Copg2
|
UTSW |
6 |
30,749,505 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9583:Copg2
|
UTSW |
6 |
30,787,399 (GRCm39) |
nonsense |
probably null |
|
|
R9698:Copg2
|
UTSW |
6 |
30,838,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Copg2
|
UTSW |
6 |
30,786,520 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGCCCCTAAAGGATAACC -3'
(R):5'- GGGCCTGTCTTCATCATCTGAC -3'
Sequencing Primer
(F):5'- CTAAGGAGAGCTGTAAAATCAACTC -3'
(R):5'- ATCAGCCATTTTCTAGGCTAGGAGC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation