Incidental Mutation 'R4721:Copa'
ID |
354434 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Copa
|
Ensembl Gene |
ENSMUSG00000026553 |
Gene Name |
coatomer protein complex subunit alpha |
Synonyms |
xenin |
MMRRC Submission |
041986-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R4721 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 171931841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000124289]
[ENSMUST00000135192]
|
AlphaFold |
Q8CIE6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027833
|
SMART Domains |
Protein: ENSMUSP00000027833 Gene: ENSMUSG00000026553
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: 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: ENSMUST00000126634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134468
AA Change: L725P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135192
|
SMART Domains |
Protein: ENSMUSP00000118179 Gene: ENSMUSG00000026553
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: ENSMUST00000150298
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152403
|
SMART Domains |
Protein: ENSMUSP00000123214 Gene: ENSMUSG00000026553
Domain | Start | End | E-Value | Type |
WD40
|
14 |
53 |
8.42e-7 |
SMART |
WD40
|
56 |
94 |
1.38e1 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
98% (90/92) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,385,107 (GRCm39) |
D286G |
probably benign |
Het |
Abca15 |
G |
A |
7: 119,949,998 (GRCm39) |
E491K |
probably benign |
Het |
Acsl5 |
A |
G |
19: 55,268,962 (GRCm39) |
T208A |
probably benign |
Het |
Adamts10 |
T |
A |
17: 33,764,511 (GRCm39) |
|
probably null |
Het |
Ahcyl1 |
T |
C |
3: 107,577,233 (GRCm39) |
Q313R |
possibly damaging |
Het |
Ccdc71 |
C |
T |
9: 108,340,622 (GRCm39) |
S145L |
possibly damaging |
Het |
Cep250 |
A |
G |
2: 155,812,119 (GRCm39) |
T472A |
probably damaging |
Het |
Crybg1 |
C |
A |
10: 43,873,883 (GRCm39) |
R1075L |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,832,809 (GRCm39) |
K84* |
probably null |
Het |
Ddx59 |
C |
T |
1: 136,344,844 (GRCm39) |
P172S |
probably benign |
Het |
Dhx34 |
T |
A |
7: 15,931,307 (GRCm39) |
Q1118L |
possibly damaging |
Het |
Dkkl1 |
T |
A |
7: 44,857,232 (GRCm39) |
I112F |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,944,140 (GRCm39) |
C1786S |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,788,525 (GRCm39) |
D520V |
possibly damaging |
Het |
Ergic1 |
T |
A |
17: 26,857,750 (GRCm39) |
V192E |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,941,262 (GRCm39) |
E1343G |
probably damaging |
Het |
Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm15446 |
C |
T |
5: 110,090,866 (GRCm39) |
H373Y |
probably damaging |
Het |
Gpr157 |
A |
T |
4: 150,183,420 (GRCm39) |
N197Y |
probably benign |
Het |
Grid2 |
G |
A |
6: 64,643,185 (GRCm39) |
M982I |
probably benign |
Het |
Hey2 |
G |
T |
10: 30,710,304 (GRCm39) |
R150S |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,648,322 (GRCm39) |
|
probably null |
Het |
Ighv3-3 |
G |
A |
12: 114,160,156 (GRCm39) |
R85* |
probably null |
Het |
Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
Igsf21 |
A |
G |
4: 139,834,621 (GRCm39) |
S84P |
probably benign |
Het |
Kif20b |
A |
G |
19: 34,915,773 (GRCm39) |
T517A |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,385,863 (GRCm39) |
E244G |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,390,928 (GRCm39) |
T2990A |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 40,605,381 (GRCm39) |
|
probably null |
Het |
Lrrc42 |
A |
T |
4: 107,091,050 (GRCm39) |
S382T |
probably benign |
Het |
Magi2 |
C |
T |
5: 20,739,467 (GRCm39) |
R737W |
probably damaging |
Het |
Mcc |
A |
G |
18: 44,652,623 (GRCm39) |
L267P |
probably damaging |
Het |
Mzf1 |
T |
A |
7: 12,777,223 (GRCm39) |
Q727L |
possibly damaging |
Het |
Mzf1 |
C |
T |
7: 12,777,448 (GRCm39) |
R652Q |
possibly damaging |
Het |
Nkain3 |
C |
T |
4: 20,485,015 (GRCm39) |
A21T |
probably damaging |
Het |
Nlrp4e |
T |
A |
7: 23,020,521 (GRCm39) |
V336E |
possibly damaging |
Het |
Nptn |
C |
T |
9: 58,548,059 (GRCm39) |
R155C |
probably damaging |
Het |
Nr2c2 |
T |
C |
6: 92,116,828 (GRCm39) |
I10T |
possibly damaging |
Het |
Or12e13 |
T |
A |
2: 87,663,515 (GRCm39) |
I44N |
probably damaging |
Het |
Or1e26 |
C |
T |
11: 73,480,273 (GRCm39) |
C97Y |
probably damaging |
Het |
Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
Pdzk1 |
G |
T |
3: 96,776,518 (GRCm39) |
E493* |
probably null |
Het |
Plekhh1 |
GTCAAA |
G |
12: 79,122,194 (GRCm39) |
|
probably null |
Het |
Polr3b |
T |
C |
10: 84,491,867 (GRCm39) |
V342A |
possibly damaging |
Het |
Prg3 |
T |
C |
2: 84,821,750 (GRCm39) |
V125A |
possibly damaging |
Het |
Raph1 |
G |
A |
1: 60,542,160 (GRCm39) |
|
probably benign |
Het |
Rassf2 |
A |
G |
2: 131,846,358 (GRCm39) |
V133A |
probably benign |
Het |
Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
Rbpjl |
A |
C |
2: 164,246,447 (GRCm39) |
S31R |
probably benign |
Het |
Reln |
A |
G |
5: 22,124,220 (GRCm39) |
V2762A |
probably damaging |
Het |
Rxrg |
T |
A |
1: 167,452,621 (GRCm39) |
I141N |
probably damaging |
Het |
Scn7a |
C |
A |
2: 66,514,529 (GRCm39) |
G1082C |
probably damaging |
Het |
Selenon |
C |
A |
4: 134,270,387 (GRCm39) |
E322* |
probably null |
Het |
Sipa1 |
C |
T |
19: 5,710,413 (GRCm39) |
R199Q |
probably damaging |
Het |
Slc26a7 |
A |
T |
4: 14,510,261 (GRCm39) |
|
probably null |
Het |
Slc37a4 |
T |
C |
9: 44,312,787 (GRCm39) |
S314P |
possibly damaging |
Het |
Smarce1 |
T |
C |
11: 99,111,543 (GRCm39) |
I59V |
probably benign |
Het |
Stk19 |
T |
C |
17: 35,042,120 (GRCm39) |
|
probably null |
Het |
Susd2 |
C |
T |
10: 75,473,964 (GRCm39) |
D544N |
probably benign |
Het |
Tcf7l2 |
G |
T |
19: 55,919,886 (GRCm39) |
R465L |
possibly damaging |
Het |
Tfap2d |
T |
A |
1: 19,174,984 (GRCm39) |
S146T |
possibly damaging |
Het |
Tmem156 |
A |
G |
5: 65,248,870 (GRCm39) |
F10S |
probably benign |
Het |
Tmem63c |
G |
T |
12: 87,103,954 (GRCm39) |
A68S |
possibly damaging |
Het |
Tnfrsf21 |
T |
C |
17: 43,396,395 (GRCm39) |
C560R |
probably damaging |
Het |
Trav10n |
C |
T |
14: 53,359,590 (GRCm39) |
T7I |
probably benign |
Het |
Ttc38 |
C |
T |
15: 85,722,947 (GRCm39) |
R132W |
probably benign |
Het |
Tvp23a |
T |
C |
16: 10,245,275 (GRCm39) |
K108R |
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,879 (GRCm39) |
M24V |
probably benign |
Het |
Vmn1r88 |
T |
A |
7: 12,912,451 (GRCm39) |
L269* |
probably null |
Het |
Vmn2r101 |
T |
A |
17: 19,832,287 (GRCm39) |
M761K |
probably damaging |
Het |
Vps13b |
C |
T |
15: 35,910,864 (GRCm39) |
Q3543* |
probably null |
Het |
Wdr37 |
T |
C |
13: 8,904,065 (GRCm39) |
E101G |
possibly damaging |
Het |
Zc3hc1 |
A |
G |
6: 30,374,899 (GRCm39) |
V214A |
probably benign |
Het |
Zcchc9 |
A |
T |
13: 91,948,728 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
T |
1: 63,347,951 (GRCm39) |
Q2110L |
possibly damaging |
Het |
Zfp516 |
T |
G |
18: 82,975,236 (GRCm39) |
L478R |
possibly 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 |
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 |
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'- TCTCTAGGCCATGATGGTGG -3'
(R):5'- ACTTTGCAGGCATCTGTAGTAGG -3'
Sequencing Primer
(F):5'- GGATGATTGTATTTAAGCTGGAACG -3'
(R):5'- CTGTAGTAGGATATCTTCACCACAGG -3'
|
Posted On |
2015-10-21 |