Incidental Mutation 'R5764:Cope'
| ID |
446175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cope
|
| Ensembl Gene |
ENSMUSG00000055681 |
| Gene Name |
coatomer protein complex, subunit epsilon |
| Synonyms |
1110005D17Rik, Cope1 |
| MMRRC Submission |
043365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R5764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70755417-70765652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70759231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 125
(S125P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008004]
[ENSMUST00000066469]
[ENSMUST00000128003]
[ENSMUST00000150968]
[ENSMUST00000168018]
|
| AlphaFold |
O89079 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008004
|
| SMART Domains |
Protein: ENSMUSP00000008004
Gene: ENSMUSG00000057788
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
21 |
222 |
1.85e-57 |
SMART |
|
HELICc
|
262 |
343 |
2.41e-29 |
SMART |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
470 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066469
AA Change: S125P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071078
Gene: ENSMUSG00000055681
AA Change: S125P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:Coatomer_E
|
15 |
305 |
2.8e-134 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127076
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128003
AA Change: S41P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122888
Gene: ENSMUSG00000055681
AA Change: S41P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Coatomer_E
|
1 |
212 |
5.4e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138688
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150968
AA Change: S125P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119055
Gene: ENSMUSG00000055681
AA Change: S125P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:Coatomer_E
|
15 |
227 |
6.5e-86 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168018
AA Change: L91P
|
| SMART Domains |
Protein: ENSMUSP00000130416
Gene: ENSMUSG00000055681
AA Change: L91P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:Coatomer_E
|
15 |
79 |
4.5e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167850
|
| SMART Domains |
Protein: ENSMUSP00000132976
Gene: ENSMUSG00000055681
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Coatomer_E
|
1 |
79 |
5.4e-38 |
PFAM |
|
Pfam:Coatomer_E
|
75 |
113 |
3.7e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.6672 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
G |
A |
15: 74,413,423 (GRCm39) |
V536I |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,800,197 (GRCm39) |
T1277A |
probably damaging |
Het |
| Cep85l |
A |
T |
10: 53,225,090 (GRCm39) |
D166E |
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,747,724 (GRCm39) |
|
probably benign |
Het |
| Endou |
G |
A |
15: 97,612,488 (GRCm39) |
R253C |
probably damaging |
Het |
| Entpd1 |
A |
T |
19: 40,727,417 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
A |
G |
3: 85,573,172 (GRCm39) |
Y926H |
probably damaging |
Het |
| Grk3 |
A |
G |
5: 113,114,776 (GRCm39) |
|
probably null |
Het |
| Hba-a2 |
T |
A |
11: 32,247,156 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,497,094 (GRCm39) |
V305I |
probably damaging |
Het |
| Hspg2 |
C |
A |
4: 137,289,032 (GRCm39) |
T3735K |
probably damaging |
Het |
| Htr4 |
G |
A |
18: 62,570,613 (GRCm39) |
A223T |
probably damaging |
Het |
| Iglv1 |
T |
C |
16: 18,904,190 (GRCm39) |
I7M |
unknown |
Het |
| Jag1 |
C |
T |
2: 136,931,167 (GRCm39) |
C655Y |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,062,291 (GRCm39) |
T1548I |
probably damaging |
Het |
| Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
| Klra6 |
T |
A |
6: 129,999,692 (GRCm39) |
Q92L |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,431,187 (GRCm39) |
N325S |
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,148,783 (GRCm39) |
R1182H |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,034 (GRCm39) |
S975P |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,274,683 (GRCm39) |
F180L |
probably benign |
Het |
| Myadm |
G |
A |
7: 3,345,768 (GRCm39) |
V177I |
possibly damaging |
Het |
| Ngly1 |
T |
A |
14: 16,260,799 (GRCm38) |
M161K |
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,840,803 (GRCm39) |
M255T |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,822,043 (GRCm39) |
A303V |
probably damaging |
Het |
| Pgr |
A |
T |
9: 8,900,538 (GRCm39) |
I24F |
probably benign |
Het |
| Pigq |
A |
T |
17: 26,151,093 (GRCm39) |
I412N |
probably damaging |
Het |
| Plod2 |
A |
G |
9: 92,485,074 (GRCm39) |
H525R |
probably damaging |
Het |
| Polq |
T |
G |
16: 36,837,706 (GRCm39) |
M206R |
probably damaging |
Het |
| Psap |
T |
A |
10: 60,129,186 (GRCm39) |
S100T |
probably benign |
Het |
| Psme4 |
G |
A |
11: 30,722,364 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
A |
12: 103,732,080 (GRCm39) |
M260L |
probably benign |
Het |
| Serpinf2 |
A |
G |
11: 75,328,230 (GRCm39) |
L106P |
possibly damaging |
Het |
| Sumf1 |
C |
T |
6: 108,095,424 (GRCm39) |
|
probably benign |
Het |
| Tcp1 |
A |
G |
17: 13,135,489 (GRCm39) |
T13A |
probably benign |
Het |
| Tfap2a |
A |
C |
13: 40,881,831 (GRCm39) |
I185S |
possibly damaging |
Het |
| Tlr2 |
A |
C |
3: 83,745,819 (GRCm39) |
I88S |
probably damaging |
Het |
| Tmc4 |
A |
T |
7: 3,675,022 (GRCm39) |
F283L |
probably damaging |
Het |
| Tox4 |
T |
C |
14: 52,523,277 (GRCm39) |
V79A |
probably damaging |
Het |
| Trim10 |
A |
T |
17: 37,181,073 (GRCm39) |
E101D |
probably damaging |
Het |
| Troap |
T |
A |
15: 98,973,300 (GRCm39) |
I22N |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,441,185 (GRCm39) |
|
probably null |
Het |
| Utp4 |
T |
G |
8: 107,644,248 (GRCm39) |
V529G |
possibly damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,931 (GRCm39) |
M664V |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 23,800,909 (GRCm39) |
Y53C |
possibly damaging |
Het |
|
| Other mutations in Cope |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02696:Cope
|
APN |
8 |
70,763,143 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4431001:Cope
|
UTSW |
8 |
70,765,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0570:Cope
|
UTSW |
8 |
70,759,181 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1382:Cope
|
UTSW |
8 |
70,765,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1518:Cope
|
UTSW |
8 |
70,765,411 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4538:Cope
|
UTSW |
8 |
70,759,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Cope
|
UTSW |
8 |
70,755,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5106:Cope
|
UTSW |
8 |
70,763,097 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5454:Cope
|
UTSW |
8 |
70,757,306 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5979:Cope
|
UTSW |
8 |
70,755,193 (GRCm39) |
splice site |
probably null |
|
|
R6003:Cope
|
UTSW |
8 |
70,757,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6010:Cope
|
UTSW |
8 |
70,761,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Cope
|
UTSW |
8 |
70,765,537 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8022:Cope
|
UTSW |
8 |
70,765,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9309:Cope
|
UTSW |
8 |
70,755,482 (GRCm39) |
missense |
unknown |
|
|
R9326:Cope
|
UTSW |
8 |
70,755,516 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9341:Cope
|
UTSW |
8 |
70,761,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9343:Cope
|
UTSW |
8 |
70,761,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9501:Cope
|
UTSW |
8 |
70,765,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCGCTCCTGAAGAATGG -3'
(R):5'- ATCCTTCAGCTTGGACTTACCTAAG -3'
Sequencing Primer
(F):5'- TCCTGAAGAATGGGATCCCTCAG -3'
(R):5'- GTGTTTGCGCATGTCCAAAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation