Incidental Mutation 'IGL02123:Copa'
ID |
280714 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Copa
|
Ensembl Gene |
ENSMUSG00000026553 |
Gene Name |
coatomer protein complex subunit alpha |
Synonyms |
xenin |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
IGL02123
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 171939695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 621
(L621H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000124289]
[ENSMUST00000135192]
|
AlphaFold |
Q8CIE6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027833
AA Change: L621H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027833 Gene: ENSMUSG00000026553 AA Change: L621H
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 |
probably benign
Transcript: ENSMUST00000124289
|
SMART Domains |
Protein: ENSMUSP00000118899 Gene: ENSMUSG00000026553
Domain | Start | End | E-Value | Type |
Blast:WD40
|
1 |
37 |
2e-19 |
BLAST |
PDB:4J8G|B
|
1 |
52 |
2e-23 |
PDB |
SCOP:d1erja_
|
1 |
52 |
1e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133909
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135192
AA Change: L612H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118179 Gene: ENSMUSG00000026553 AA Change: L612H
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 |
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
T |
C |
7: 28,328,914 (GRCm39) |
T31A |
probably benign |
Het |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,401,766 (GRCm39) |
V429A |
possibly damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cldn11 |
C |
T |
3: 31,204,336 (GRCm39) |
T13M |
probably benign |
Het |
Cngb3 |
C |
A |
4: 19,367,801 (GRCm39) |
Q237K |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,569,740 (GRCm39) |
|
probably null |
Het |
Dbn1 |
T |
C |
13: 55,624,553 (GRCm39) |
D332G |
possibly damaging |
Het |
Drc1 |
T |
C |
5: 30,504,448 (GRCm39) |
S197P |
probably benign |
Het |
E2f2 |
A |
G |
4: 135,900,159 (GRCm39) |
N23S |
probably benign |
Het |
Epb41l2 |
T |
A |
10: 25,336,742 (GRCm39) |
L246H |
probably damaging |
Het |
Fam13b |
G |
A |
18: 34,578,671 (GRCm39) |
|
probably benign |
Het |
Fam184b |
A |
G |
5: 45,796,493 (GRCm39) |
M30T |
possibly damaging |
Het |
Fn3krp |
G |
A |
11: 121,320,270 (GRCm39) |
R205H |
probably benign |
Het |
Fndc11 |
A |
G |
2: 180,863,443 (GRCm39) |
I83V |
probably benign |
Het |
Garin2 |
T |
C |
12: 78,780,981 (GRCm39) |
|
probably null |
Het |
Gm3629 |
C |
T |
14: 17,834,541 (GRCm39) |
R150H |
probably benign |
Het |
Hs6st1 |
T |
A |
1: 36,142,952 (GRCm39) |
F296I |
possibly damaging |
Het |
Igsf10 |
T |
A |
3: 59,226,081 (GRCm39) |
I2531F |
probably damaging |
Het |
Klhl40 |
T |
C |
9: 121,608,989 (GRCm39) |
F385L |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,385,466 (GRCm39) |
M302K |
possibly damaging |
Het |
Lrrc43 |
A |
T |
5: 123,632,342 (GRCm39) |
I162F |
probably damaging |
Het |
Map3k21 |
A |
G |
8: 126,652,849 (GRCm39) |
E325G |
probably damaging |
Het |
Mpo |
A |
T |
11: 87,685,621 (GRCm39) |
N33I |
probably benign |
Het |
Mpp4 |
A |
G |
1: 59,200,625 (GRCm39) |
|
probably null |
Het |
Muc5b |
C |
T |
7: 141,417,494 (GRCm39) |
T3480I |
possibly damaging |
Het |
Myo6 |
T |
C |
9: 80,171,554 (GRCm39) |
|
probably benign |
Het |
Nostrin |
C |
T |
2: 68,986,453 (GRCm39) |
|
probably benign |
Het |
Nphp1 |
T |
C |
2: 127,595,969 (GRCm39) |
M498V |
probably benign |
Het |
Nr4a2 |
A |
T |
2: 57,001,667 (GRCm39) |
L199Q |
possibly damaging |
Het |
Pcdhb6 |
A |
T |
18: 37,468,873 (GRCm39) |
N598I |
probably damaging |
Het |
Pex19 |
T |
A |
1: 171,961,853 (GRCm39) |
M207K |
probably damaging |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Plekha2 |
T |
C |
8: 25,532,745 (GRCm39) |
K409E |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,476,691 (GRCm39) |
L1169P |
probably damaging |
Het |
Pmpcb |
A |
G |
5: 21,948,373 (GRCm39) |
|
probably benign |
Het |
Ptrh1 |
T |
C |
2: 32,666,826 (GRCm39) |
|
probably benign |
Het |
Rc3h2 |
T |
C |
2: 37,288,265 (GRCm39) |
E439G |
probably damaging |
Het |
Ric1 |
C |
T |
19: 29,572,200 (GRCm39) |
A665V |
probably benign |
Het |
Stx18 |
T |
A |
5: 38,285,447 (GRCm39) |
V219D |
probably damaging |
Het |
Taf7 |
A |
T |
18: 37,775,533 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
A |
G |
1: 39,415,988 (GRCm39) |
I895T |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,419,317 (GRCm39) |
S766P |
probably damaging |
Het |
Tekt3 |
C |
A |
11: 62,974,766 (GRCm39) |
H362N |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Tmem94 |
T |
C |
11: 115,678,364 (GRCm39) |
S196P |
possibly damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,367,933 (GRCm39) |
Y353C |
probably damaging |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Vmn2r90 |
T |
G |
17: 17,953,744 (GRCm39) |
M636R |
probably benign |
Het |
Vmn2r98 |
T |
A |
17: 19,300,941 (GRCm39) |
C648S |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 40,965,591 (GRCm39) |
C560Y |
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 |
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 |
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 |
|
|
Posted On |
2015-04-16 |