Incidental Mutation 'R2054:Copa'
| ID |
226486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copa
|
| Ensembl Gene |
ENSMUSG00000026553 |
| Gene Name |
coatomer protein complex subunit alpha |
| Synonyms |
xenin |
| MMRRC Submission |
040059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R2054 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 171946524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 980
(Y980*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000135192]
|
| AlphaFold |
Q8CIE6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027833
AA Change: Y989*
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: Y989*
| 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 |
noncoding transcript
Transcript: ENSMUST00000122845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133909
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135192
AA Change: Y980*
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: Y980*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142765
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,562 (GRCm39) |
C94S |
possibly damaging |
Het |
| A930011G23Rik |
T |
C |
5: 99,375,914 (GRCm39) |
Y432C |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,535,462 (GRCm39) |
D543G |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,481,310 (GRCm39) |
V318E |
probably damaging |
Het |
| Aim2 |
T |
C |
1: 173,291,548 (GRCm39) |
F318L |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,063,134 (GRCm39) |
D3872V |
probably damaging |
Het |
| Atat1 |
T |
A |
17: 36,212,261 (GRCm39) |
R323W |
probably null |
Het |
| Atp2b4 |
T |
C |
1: 133,642,907 (GRCm39) |
D1066G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,002,002 (GRCm39) |
T1316A |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,697,127 (GRCm39) |
|
probably benign |
Het |
| Cblif |
G |
A |
19: 11,736,370 (GRCm39) |
V314I |
probably benign |
Het |
| Ccdc54 |
T |
A |
16: 50,410,987 (GRCm39) |
N93I |
probably damaging |
Het |
| Ccnd1 |
A |
C |
7: 144,491,128 (GRCm39) |
D159E |
possibly damaging |
Het |
| Cnot1 |
A |
C |
8: 96,466,469 (GRCm39) |
S1589R |
possibly damaging |
Het |
| Defb19 |
A |
G |
2: 152,418,090 (GRCm39) |
I82T |
possibly damaging |
Het |
| Elapor2 |
C |
A |
5: 9,513,030 (GRCm39) |
T1008K |
possibly damaging |
Het |
| Fiz1 |
G |
A |
7: 5,011,235 (GRCm39) |
R428C |
probably damaging |
Het |
| Fnip2 |
A |
T |
3: 79,479,772 (GRCm39) |
|
probably benign |
Het |
| Gabrb3 |
G |
A |
7: 57,474,241 (GRCm39) |
G408S |
probably benign |
Het |
| Hao1 |
C |
T |
2: 134,340,178 (GRCm39) |
|
silent |
Het |
| Hecw1 |
T |
A |
13: 14,471,998 (GRCm39) |
M557L |
probably damaging |
Het |
| Itch |
A |
T |
2: 155,052,496 (GRCm39) |
I699F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,734,671 (GRCm39) |
|
probably benign |
Het |
| Leng8 |
T |
G |
7: 4,147,289 (GRCm39) |
Y562* |
probably null |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,587,494 (GRCm39) |
N151K |
unknown |
Het |
| Lrrc71 |
T |
C |
3: 87,649,980 (GRCm39) |
E316G |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,325,344 (GRCm39) |
N404D |
probably damaging |
Het |
| Mrps26 |
C |
A |
2: 130,406,087 (GRCm39) |
T100K |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,547,309 (GRCm39) |
T431A |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,550,482 (GRCm39) |
C713S |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,054,451 (GRCm39) |
K1077E |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,524,207 (GRCm39) |
T1688A |
probably benign |
Het |
| Nek2 |
T |
C |
1: 191,553,764 (GRCm39) |
S3P |
possibly damaging |
Het |
| Nell2 |
T |
C |
15: 95,332,990 (GRCm39) |
T190A |
probably benign |
Het |
| Npr2 |
A |
T |
4: 43,646,560 (GRCm39) |
N636I |
probably damaging |
Het |
| Orc3 |
A |
T |
4: 34,584,846 (GRCm39) |
I453K |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,980,448 (GRCm39) |
H865R |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,653,341 (GRCm39) |
V80A |
possibly damaging |
Het |
| Phka2 |
T |
A |
X: 159,337,323 (GRCm39) |
D424E |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,793,770 (GRCm39) |
T1819I |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,355,169 (GRCm39) |
D219G |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,631,130 (GRCm39) |
I500V |
possibly damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Pygm |
C |
G |
19: 6,438,185 (GRCm39) |
N163K |
probably benign |
Het |
| Qrich1 |
T |
A |
9: 108,436,469 (GRCm39) |
N722K |
possibly damaging |
Het |
| Reep6 |
T |
A |
10: 80,166,156 (GRCm39) |
C104* |
probably null |
Het |
| Rfx8 |
A |
G |
1: 39,724,719 (GRCm39) |
V214A |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,820,570 (GRCm39) |
T1398I |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,676,360 (GRCm39) |
|
probably null |
Het |
| Slc7a14 |
A |
G |
3: 31,291,511 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,462,948 (GRCm39) |
M646K |
probably benign |
Het |
| Snx29 |
A |
G |
16: 11,449,356 (GRCm39) |
N165S |
probably damaging |
Het |
| Supt6 |
T |
A |
11: 78,115,187 (GRCm39) |
|
probably benign |
Het |
| Tead4 |
G |
T |
6: 128,247,925 (GRCm39) |
S37R |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex56 |
T |
A |
13: 35,108,574 (GRCm39) |
Y19N |
probably damaging |
Het |
| Tff2 |
T |
C |
17: 31,362,199 (GRCm39) |
K40E |
probably benign |
Het |
| Traip |
C |
T |
9: 107,840,118 (GRCm39) |
T265M |
probably benign |
Het |
| Trim47 |
T |
C |
11: 115,999,109 (GRCm39) |
T256A |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,890,303 (GRCm39) |
M853V |
possibly damaging |
Het |
| Tti1 |
G |
T |
2: 157,849,365 (GRCm39) |
Q625K |
possibly damaging |
Het |
| Ube2n |
A |
G |
10: 95,377,128 (GRCm39) |
N31S |
probably damaging |
Het |
| Vmn2r17 |
T |
C |
5: 109,600,352 (GRCm39) |
M550T |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,622,793 (GRCm39) |
N31K |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,767,728 (GRCm39) |
V628A |
probably damaging |
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 |
|
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 |
|
R8757:Copa
|
UTSW |
1 |
171,947,081 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- GCCATGATCACTTGCTGTCAC -3'
(R):5'- CCGTTCTGTTCTTATCAAACACAG -3'
Sequencing Primer
(F):5'- GGTTACTCTGAAGTACTCTCTATAGG -3'
(R):5'- CTGTTCTTATCAAACACAGTCACC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation