Incidental Mutation 'R8757:Copa'
| ID |
671663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copa
|
| Ensembl Gene |
ENSMUSG00000026553 |
| Gene Name |
coatomer protein complex subunit alpha |
| Synonyms |
xenin |
| MMRRC Submission |
068621-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 171947081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 1068
(I1068M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000135192]
|
| AlphaFold |
Q8CIE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027833
AA Change: I1077M
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: I1077M
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
37 |
2.86e0 |
SMART |
|
WD40
|
40 |
79 |
1.11e-6 |
SMART |
|
WD40
|
82 |
121 |
4.76e-6 |
SMART |
|
WD40
|
124 |
163 |
2.24e-11 |
SMART |
|
WD40
|
194 |
233 |
2.98e-7 |
SMART |
|
WD40
|
238 |
277 |
8.42e-7 |
SMART |
|
WD40
|
280 |
318 |
1.38e1 |
SMART |
|
Pfam:Coatomer_WDAD
|
338 |
776 |
5.4e-144 |
PFAM |
|
Pfam:COPI_C
|
824 |
1233 |
1.4e-190 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135192
AA Change: I1068M
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: I1068M
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
37 |
2.86e0 |
SMART |
|
WD40
|
40 |
79 |
1.11e-6 |
SMART |
|
WD40
|
82 |
121 |
4.76e-6 |
SMART |
|
WD40
|
124 |
163 |
2.24e-11 |
SMART |
|
WD40
|
194 |
233 |
2.98e-7 |
SMART |
|
WD40
|
238 |
277 |
8.42e-7 |
SMART |
|
WD40
|
280 |
318 |
1.38e1 |
SMART |
|
Pfam:Coatomer_WDAD
|
338 |
767 |
1.1e-148 |
PFAM |
|
Pfam:COPI_C
|
815 |
1224 |
3.6e-216 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(6) : Gene trapped(6)
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
C |
11: 117,697,112 (GRCm39) |
V237A |
probably benign |
Het |
| Abca15 |
G |
A |
7: 120,006,631 (GRCm39) |
V1632M |
probably damaging |
Het |
| Adam20 |
A |
T |
8: 41,248,943 (GRCm39) |
H351L |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,299,036 (GRCm39) |
V1579A |
unknown |
Het |
| Apol7e |
T |
C |
15: 77,602,065 (GRCm39) |
V221A |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,933,640 (GRCm39) |
H754R |
probably damaging |
Het |
| Atp6v0d2 |
T |
A |
4: 19,910,649 (GRCm39) |
R80S |
probably benign |
Het |
| Cers3 |
G |
A |
7: 66,435,850 (GRCm39) |
V270M |
probably damaging |
Het |
| Ces3a |
A |
G |
8: 105,784,129 (GRCm39) |
H443R |
probably damaging |
Het |
| Cnot7 |
A |
G |
8: 40,947,080 (GRCm39) |
V269A |
probably benign |
Het |
| Cntn1 |
T |
G |
15: 92,153,801 (GRCm39) |
F485V |
possibly damaging |
Het |
| Dchs2 |
G |
A |
3: 83,261,567 (GRCm39) |
V2612M |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,775,922 (GRCm39) |
T114A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,586,067 (GRCm39) |
D538E |
probably benign |
Het |
| Epn3 |
C |
A |
11: 94,386,848 (GRCm39) |
G174V |
possibly damaging |
Het |
| Evx2 |
C |
T |
2: 74,486,226 (GRCm39) |
A388T |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,537,054 (GRCm39) |
M553T |
possibly damaging |
Het |
| Ficd |
G |
T |
5: 113,876,575 (GRCm39) |
R250L |
probably damaging |
Het |
| Fmo2 |
A |
G |
1: 162,708,005 (GRCm39) |
S377P |
probably benign |
Het |
| Gm19410 |
A |
T |
8: 36,276,119 (GRCm39) |
Q1592L |
possibly damaging |
Het |
| Gm4792 |
T |
A |
10: 94,131,049 (GRCm39) |
T87S |
unknown |
Het |
| Gm8947 |
C |
A |
1: 151,068,809 (GRCm39) |
T214K |
probably benign |
Het |
| H6pd |
C |
T |
4: 150,066,758 (GRCm39) |
V551I |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,546,539 (GRCm39) |
I391N |
possibly damaging |
Het |
| Heyl |
C |
T |
4: 123,127,666 (GRCm39) |
R3W |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,545,335 (GRCm39) |
V40E |
probably damaging |
Het |
| Ighg1 |
A |
T |
12: 113,292,657 (GRCm39) |
L304* |
probably null |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,470 (GRCm39) |
W114R |
possibly damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,940 (GRCm39) |
D165G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,754,210 (GRCm39) |
V1210E |
unknown |
Het |
| Lipt2 |
GGCGCCCGCGCGCG |
GGCG |
7: 99,808,888 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,348,766 (GRCm39) |
V2643A |
unknown |
Het |
| Map4k5 |
A |
G |
12: 69,897,598 (GRCm39) |
|
probably benign |
Het |
| Mecom |
A |
T |
3: 30,292,268 (GRCm39) |
D14E |
|
Het |
| Myo3a |
G |
T |
2: 22,448,319 (GRCm39) |
K969N |
possibly damaging |
Het |
| Nat3 |
T |
C |
8: 68,000,202 (GRCm39) |
I27T |
probably damaging |
Het |
| Nr1d1 |
G |
C |
11: 98,660,073 (GRCm39) |
R484G |
probably damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,031,119 (GRCm39) |
L560P |
probably damaging |
Het |
| Or52e8 |
T |
C |
7: 104,624,325 (GRCm39) |
N293S |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,006 (GRCm39) |
D327G |
probably damaging |
Het |
| Ppihl |
A |
T |
5: 44,070,999 (GRCm39) |
N119I |
probably benign |
Het |
| Ppp1r13l |
G |
T |
7: 19,103,981 (GRCm39) |
G154V |
probably damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,687 (GRCm39) |
D382G |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 22,972,716 (GRCm39) |
Q209K |
possibly damaging |
Het |
| Rev1 |
A |
C |
1: 38,098,353 (GRCm39) |
L730R |
probably damaging |
Het |
| Rin3 |
G |
A |
12: 102,339,861 (GRCm39) |
V684I |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,080 (GRCm39) |
F484L |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Sema6d |
G |
A |
2: 124,497,134 (GRCm39) |
C136Y |
probably damaging |
Het |
| Sf3a2 |
T |
A |
10: 80,640,138 (GRCm39) |
H316Q |
unknown |
Het |
| Slc18b1 |
T |
C |
10: 23,692,198 (GRCm39) |
|
silent |
Het |
| Sp100 |
T |
C |
1: 85,590,285 (GRCm39) |
V93A |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,040,940 (GRCm39) |
L1247F |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,144,618 (GRCm39) |
N21I |
probably damaging |
Het |
| Tbck |
G |
T |
3: 132,392,587 (GRCm39) |
M9I |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,274,500 (GRCm39) |
Y376C |
probably damaging |
Het |
| Tmem199 |
T |
A |
11: 78,398,633 (GRCm39) |
|
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,857,648 (GRCm39) |
L759P |
probably damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,799,206 (GRCm39) |
H97L |
probably damaging |
Het |
| Zfp800 |
T |
C |
6: 28,244,270 (GRCm39) |
I232V |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,487,874 (GRCm39) |
T850A |
probably benign |
Het |
| Zpld2 |
T |
C |
4: 133,930,282 (GRCm39) |
T8A |
unknown |
Het |
|
| Other mutations in Copa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Copa
|
APN |
1 |
171,938,255 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01360:Copa
|
APN |
1 |
171,915,155 (GRCm39) |
splice site |
probably null |
|
|
IGL01434:Copa
|
APN |
1 |
171,947,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01744:Copa
|
APN |
1 |
171,940,756 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01837:Copa
|
APN |
1 |
171,946,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01988:Copa
|
APN |
1 |
171,945,831 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02059:Copa
|
APN |
1 |
171,927,320 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02123:Copa
|
APN |
1 |
171,939,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02731:Copa
|
APN |
1 |
171,929,785 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03114:Copa
|
APN |
1 |
171,946,835 (GRCm39) |
nonsense |
probably null |
|
|
P0027:Copa
|
UTSW |
1 |
171,939,515 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
PIT4434001:Copa
|
UTSW |
1 |
171,933,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Copa
|
UTSW |
1 |
171,915,234 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0465:Copa
|
UTSW |
1 |
171,945,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Copa
|
UTSW |
1 |
171,949,254 (GRCm39) |
splice site |
probably benign |
|
|
R0568:Copa
|
UTSW |
1 |
171,939,704 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0628:Copa
|
UTSW |
1 |
171,918,592 (GRCm39) |
splice site |
probably benign |
|
|
R1328:Copa
|
UTSW |
1 |
171,949,258 (GRCm39) |
splice site |
probably benign |
|
|
R1494:Copa
|
UTSW |
1 |
171,931,694 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1728:Copa
|
UTSW |
1 |
171,939,554 (GRCm39) |
missense |
probably benign |
|
|
R1758:Copa
|
UTSW |
1 |
171,931,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Copa
|
UTSW |
1 |
171,939,554 (GRCm39) |
missense |
probably benign |
|
|
R1942:Copa
|
UTSW |
1 |
171,939,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Copa
|
UTSW |
1 |
171,946,524 (GRCm39) |
nonsense |
probably null |
|
|
R2299:Copa
|
UTSW |
1 |
171,949,292 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2518:Copa
|
UTSW |
1 |
171,947,468 (GRCm39) |
missense |
probably benign |
|
|
R2680:Copa
|
UTSW |
1 |
171,948,971 (GRCm39) |
nonsense |
probably null |
|
|
R3080:Copa
|
UTSW |
1 |
171,940,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Copa
|
UTSW |
1 |
171,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Copa
|
UTSW |
1 |
171,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Copa
|
UTSW |
1 |
171,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Copa
|
UTSW |
1 |
171,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Copa
|
UTSW |
1 |
171,948,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3975:Copa
|
UTSW |
1 |
171,948,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4031:Copa
|
UTSW |
1 |
171,935,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:Copa
|
UTSW |
1 |
171,928,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4227:Copa
|
UTSW |
1 |
171,945,682 (GRCm39) |
intron |
probably benign |
|
|
R4244:Copa
|
UTSW |
1 |
171,938,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4254:Copa
|
UTSW |
1 |
171,929,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Copa
|
UTSW |
1 |
171,919,964 (GRCm39) |
intron |
probably benign |
|
|
R4323:Copa
|
UTSW |
1 |
171,946,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Copa
|
UTSW |
1 |
171,929,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4711:Copa
|
UTSW |
1 |
171,947,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Copa
|
UTSW |
1 |
171,931,841 (GRCm39) |
splice site |
probably benign |
|
|
R4773:Copa
|
UTSW |
1 |
171,932,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:Copa
|
UTSW |
1 |
171,946,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Copa
|
UTSW |
1 |
171,919,843 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4953:Copa
|
UTSW |
1 |
171,910,453 (GRCm39) |
unclassified |
probably benign |
|
|
R5139:Copa
|
UTSW |
1 |
171,948,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5152:Copa
|
UTSW |
1 |
171,945,628 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5297:Copa
|
UTSW |
1 |
171,940,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Copa
|
UTSW |
1 |
171,932,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Copa
|
UTSW |
1 |
171,946,511 (GRCm39) |
nonsense |
probably null |
|
|
R6283:Copa
|
UTSW |
1 |
171,946,415 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6921:Copa
|
UTSW |
1 |
171,939,491 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6934:Copa
|
UTSW |
1 |
171,938,253 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7009:Copa
|
UTSW |
1 |
171,918,567 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7194:Copa
|
UTSW |
1 |
171,947,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7348:Copa
|
UTSW |
1 |
171,929,790 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7710:Copa
|
UTSW |
1 |
171,937,411 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7745:Copa
|
UTSW |
1 |
171,939,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Copa
|
UTSW |
1 |
171,947,132 (GRCm39) |
nonsense |
probably null |
|
|
R8168:Copa
|
UTSW |
1 |
171,927,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8273:Copa
|
UTSW |
1 |
171,946,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8704:Copa
|
UTSW |
1 |
171,931,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8754:Copa
|
UTSW |
1 |
171,935,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Copa
|
UTSW |
1 |
171,947,081 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8885:Copa
|
UTSW |
1 |
171,925,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8891:Copa
|
UTSW |
1 |
171,946,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Copa
|
UTSW |
1 |
171,931,737 (GRCm39) |
missense |
probably null |
0.03 |
|
R8928:Copa
|
UTSW |
1 |
171,931,737 (GRCm39) |
missense |
probably null |
0.03 |
|
R8956:Copa
|
UTSW |
1 |
171,937,480 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9063:Copa
|
UTSW |
1 |
171,944,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9295:Copa
|
UTSW |
1 |
171,939,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9364:Copa
|
UTSW |
1 |
171,944,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9437:Copa
|
UTSW |
1 |
171,931,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9673:Copa
|
UTSW |
1 |
171,945,648 (GRCm39) |
missense |
probably benign |
0.11 |
|
T0722:Copa
|
UTSW |
1 |
171,939,515 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Copa
|
UTSW |
1 |
171,933,690 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGGCAAGTTTGAGGAAGC -3'
(R):5'- AACACCTCGTCACGGAGATG -3'
Sequencing Primer
(F):5'- GGAAAAATTCCGTTCCATCCTACTC -3'
(R):5'- TCGTCACGGAGATGACCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation