Incidental Mutation 'R6003:Cope'
| ID |
478463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cope
|
| Ensembl Gene |
ENSMUSG00000055681 |
| Gene Name |
coatomer protein complex, subunit epsilon |
| Synonyms |
1110005D17Rik, Cope1 |
| MMRRC Submission |
043252-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R6003 (G1)
|
| Quality Score |
131.008 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70755417-70765652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70757285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 43
(L43P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008004]
[ENSMUST00000066469]
[ENSMUST00000128003]
[ENSMUST00000168018]
[ENSMUST00000150968]
|
| 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 benign
Transcript: ENSMUST00000066469
AA Change: L43P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071078
Gene: ENSMUSG00000055681
AA Change: L43P
| 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 benign
Transcript: ENSMUST00000128003
|
| SMART Domains |
Protein: ENSMUSP00000122888
Gene: ENSMUSG00000055681
| 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 benign
Transcript: ENSMUST00000168018
AA Change: L43P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000130416
Gene: ENSMUSG00000055681
AA Change: L43P
| 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 |
probably benign
Transcript: ENSMUST00000150968
AA Change: L43P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119055
Gene: ENSMUSG00000055681
AA Change: L43P
| 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 |
noncoding transcript
Transcript: ENSMUST00000140363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144890
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,312 (GRCm39) |
E157G |
probably benign |
Het |
| Abcb11 |
T |
C |
2: 69,073,811 (GRCm39) |
K1238R |
probably benign |
Het |
| Ankar |
T |
A |
1: 72,738,046 (GRCm39) |
E45D |
probably damaging |
Het |
| Antxrl |
G |
T |
14: 33,797,592 (GRCm39) |
K522N |
possibly damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,003,011 (GRCm39) |
Y93C |
probably damaging |
Het |
| As3mt |
C |
T |
19: 46,696,567 (GRCm39) |
T35M |
possibly damaging |
Het |
| Aspg |
T |
C |
12: 112,079,476 (GRCm39) |
S85P |
probably damaging |
Het |
| Cachd1 |
T |
C |
4: 100,809,216 (GRCm39) |
S234P |
possibly damaging |
Het |
| Ccdc3 |
T |
C |
2: 5,146,218 (GRCm39) |
|
probably null |
Het |
| Cnpy1 |
T |
C |
5: 28,450,759 (GRCm39) |
T16A |
probably benign |
Het |
| E2f8 |
T |
C |
7: 48,520,525 (GRCm39) |
M599V |
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,755,319 (GRCm39) |
D954E |
unknown |
Het |
| Gfpt1 |
T |
A |
6: 87,065,230 (GRCm39) |
|
probably null |
Het |
| Ggps1 |
T |
G |
13: 14,228,587 (GRCm39) |
S145R |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,803,400 (GRCm39) |
D1337G |
probably damaging |
Het |
| Gtf2a1l |
G |
T |
17: 89,001,531 (GRCm39) |
G82V |
probably damaging |
Het |
| Gucy1b1 |
C |
A |
3: 81,965,584 (GRCm39) |
L87F |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,311 (GRCm39) |
V76A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,129,294 (GRCm39) |
E460G |
probably damaging |
Het |
| Kdm4b |
C |
T |
17: 56,703,916 (GRCm39) |
R756W |
probably damaging |
Het |
| Lax1 |
T |
A |
1: 133,611,834 (GRCm39) |
I34F |
probably benign |
Het |
| Marveld3 |
A |
T |
8: 110,680,960 (GRCm39) |
C312S |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,237,254 (GRCm39) |
D824G |
possibly damaging |
Het |
| Nrxn2 |
C |
A |
19: 6,548,358 (GRCm39) |
A17D |
possibly damaging |
Het |
| Nup133 |
A |
T |
8: 124,665,031 (GRCm39) |
I220N |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,189,751 (GRCm39) |
V984A |
probably benign |
Het |
| Nup54 |
A |
T |
5: 92,570,853 (GRCm39) |
D318E |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,591,151 (GRCm39) |
K94N |
probably damaging |
Het |
| Or2ak5 |
A |
T |
11: 58,611,196 (GRCm39) |
I226N |
probably benign |
Het |
| Or5b3 |
T |
C |
19: 13,388,403 (GRCm39) |
S157P |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,763,820 (GRCm39) |
I564V |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,969,020 (GRCm39) |
V142A |
possibly damaging |
Het |
| Rdh16f2 |
A |
T |
10: 127,712,201 (GRCm39) |
R219S |
probably benign |
Het |
| Rfx6 |
C |
T |
10: 51,584,683 (GRCm39) |
R228C |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,749,767 (GRCm39) |
|
probably null |
Het |
| Rskr |
T |
G |
11: 78,183,846 (GRCm39) |
|
probably null |
Het |
| Slc15a2 |
T |
C |
16: 36,574,910 (GRCm39) |
I531V |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,930 (GRCm39) |
E58G |
possibly damaging |
Het |
| Tmem214 |
C |
A |
5: 31,028,068 (GRCm39) |
T96K |
possibly damaging |
Het |
| Usp19 |
T |
C |
9: 108,373,579 (GRCm39) |
Y691H |
probably damaging |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,125 (GRCm39) |
W200* |
probably null |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,248 (GRCm39) |
S786R |
probably damaging |
Het |
| Vps52 |
T |
A |
17: 34,175,068 (GRCm39) |
M1K |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,714,891 (GRCm39) |
|
probably null |
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 |
|
R5764:Cope
|
UTSW |
8 |
70,759,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Cope
|
UTSW |
8 |
70,755,193 (GRCm39) |
splice site |
probably null |
|
|
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'- CCAAATTCATTGAGCTTGTAAAGCG -3'
(R):5'- ACTTAACCCTCCCCGTGATG -3'
Sequencing Primer
(F):5'- ACTGCACGCTGTGATACTG -3'
(R):5'- TGATGAGGCATCCTGACAGTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation