Incidental Mutation 'R0465:Copa'
| ID |
41551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copa
|
| Ensembl Gene |
ENSMUSG00000026553 |
| Gene Name |
coatomer protein complex subunit alpha |
| Synonyms |
xenin |
| MMRRC Submission |
038665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R0465 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171945872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 936
(F936S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000135192]
|
| AlphaFold |
Q8CIE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027833
AA Change: F945S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: F945S
| 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 damaging
Transcript: ENSMUST00000135192
AA Change: F936S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: F936S
| 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 |
0.9668 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
A |
17: 56,092,137 (GRCm39) |
|
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,101,366 (GRCm39) |
V446I |
probably damaging |
Het |
| Arid1b |
G |
A |
17: 5,046,535 (GRCm39) |
G441D |
possibly damaging |
Het |
| Bdkrb2 |
A |
T |
12: 105,558,118 (GRCm39) |
N120Y |
possibly damaging |
Het |
| Bud31 |
G |
A |
5: 145,083,396 (GRCm39) |
V80I |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,738,950 (GRCm39) |
F225L |
probably damaging |
Het |
| Carf |
T |
C |
1: 60,171,142 (GRCm39) |
M200T |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,737,318 (GRCm39) |
L767P |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 5,143,019 (GRCm39) |
R237S |
probably damaging |
Het |
| Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
| Cfap65 |
G |
A |
1: 74,956,043 (GRCm39) |
R1093C |
possibly damaging |
Het |
| Cnot8 |
T |
A |
11: 58,004,886 (GRCm39) |
V195E |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,345 (GRCm39) |
N93S |
probably benign |
Het |
| Dnai1 |
T |
A |
4: 41,629,988 (GRCm39) |
|
probably null |
Het |
| Dsel |
T |
C |
1: 111,789,992 (GRCm39) |
N181S |
probably benign |
Het |
| Enpp7 |
A |
G |
11: 118,879,607 (GRCm39) |
N87S |
probably damaging |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,673,312 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gm5592 |
T |
A |
7: 40,805,481 (GRCm39) |
|
probably benign |
Het |
| Gmnc |
T |
G |
16: 26,781,702 (GRCm39) |
N109T |
probably damaging |
Het |
| Gstcd |
A |
G |
3: 132,688,905 (GRCm39) |
I615T |
probably benign |
Het |
| Hal |
A |
C |
10: 93,352,146 (GRCm39) |
K646Q |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,227,940 (GRCm39) |
I472V |
probably null |
Het |
| Ift27 |
A |
T |
15: 78,057,958 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
T |
6: 24,503,783 (GRCm39) |
I163N |
probably damaging |
Het |
| Isg20l2 |
T |
A |
3: 87,838,987 (GRCm39) |
V66E |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,870,582 (GRCm39) |
M137T |
probably damaging |
Het |
| Lca5 |
T |
A |
9: 83,277,920 (GRCm39) |
K475* |
probably null |
Het |
| Lyve1 |
A |
G |
7: 110,452,034 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
T |
C |
1: 127,766,264 (GRCm39) |
D220G |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,699,204 (GRCm39) |
|
probably benign |
Het |
| Mmp15 |
T |
C |
8: 96,094,626 (GRCm39) |
W167R |
probably damaging |
Het |
| Ms4a13 |
A |
G |
19: 11,149,957 (GRCm39) |
C135R |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,101,243 (GRCm39) |
H673R |
possibly damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Oas2 |
A |
G |
5: 120,873,120 (GRCm39) |
I645T |
probably damaging |
Het |
| Or52s6 |
A |
T |
7: 103,092,042 (GRCm39) |
F96Y |
possibly damaging |
Het |
| Pard3b |
T |
G |
1: 62,250,877 (GRCm39) |
|
probably benign |
Het |
| Patj |
T |
A |
4: 98,423,744 (GRCm39) |
|
probably null |
Het |
| Pcare |
A |
G |
17: 72,057,155 (GRCm39) |
C841R |
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Rab34 |
C |
A |
11: 78,081,337 (GRCm39) |
C67* |
probably null |
Het |
| Rimbp3 |
T |
C |
16: 17,029,644 (GRCm39) |
S1023P |
possibly damaging |
Het |
| Rnf148 |
T |
C |
6: 23,654,684 (GRCm39) |
N104S |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,203,921 (GRCm39) |
T288A |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,357,340 (GRCm39) |
L976P |
probably damaging |
Het |
| Serpina12 |
T |
A |
12: 104,004,104 (GRCm39) |
D176V |
probably benign |
Het |
| Sik1 |
C |
T |
17: 32,073,996 (GRCm39) |
V10I |
possibly damaging |
Het |
| Sntb1 |
C |
A |
15: 55,612,672 (GRCm39) |
R302L |
probably benign |
Het |
| Stambp |
A |
G |
6: 83,547,321 (GRCm39) |
I56T |
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,565,039 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
T |
9: 42,270,714 (GRCm39) |
I1198K |
possibly damaging |
Het |
| Tfip11 |
C |
T |
5: 112,481,130 (GRCm39) |
R369C |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 99,021,142 (GRCm39) |
I79T |
probably damaging |
Het |
| Ttll5 |
A |
T |
12: 85,980,100 (GRCm39) |
N895Y |
probably benign |
Het |
| Ube2u |
T |
A |
4: 100,389,293 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,180 (GRCm39) |
S40P |
possibly damaging |
Het |
| Vmn2r100 |
G |
A |
17: 19,751,792 (GRCm39) |
V612I |
probably damaging |
Het |
| Vmn2r59 |
G |
T |
7: 41,696,332 (GRCm39) |
H137N |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,116,866 (GRCm39) |
V467A |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,215,805 (GRCm39) |
|
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,528,578 (GRCm39) |
D139E |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,494,159 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,310,716 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,509,413 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCAGAACACAGTACTTGGATGGC -3'
(R):5'- TAAGCAGCAGAAATGGCTGACTGGC -3'
Sequencing Primer
(F):5'- aatcaggcatggcaacataag -3'
(R):5'- GCTGACTGGCAAATATGACC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation