Incidental Mutation 'R7009:Copa'
ID |
544872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Copa
|
Ensembl Gene |
ENSMUSG00000026553 |
Gene Name |
coatomer protein complex subunit alpha |
Synonyms |
xenin |
MMRRC Submission |
045111-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R7009 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 171918567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 97
(R97L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000124289]
[ENSMUST00000135192]
|
AlphaFold |
Q8CIE6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027833
AA Change: R97L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000027833 Gene: ENSMUSG00000026553 AA Change: R97L
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 |
silent
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 |
probably damaging
Transcript: ENSMUST00000135192
AA Change: R97L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000118179 Gene: ENSMUSG00000026553 AA Change: R97L
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: 99.2%
|
Validation Efficiency |
99% (82/83) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
G |
T |
13: 59,838,624 (GRCm39) |
D69E |
possibly damaging |
Het |
Abat |
A |
C |
16: 8,420,231 (GRCm39) |
M177L |
probably benign |
Het |
Acadvl |
A |
G |
11: 69,905,617 (GRCm39) |
|
probably null |
Het |
Adam5 |
T |
C |
8: 25,296,454 (GRCm39) |
N331S |
probably benign |
Het |
Ager |
A |
G |
17: 34,819,710 (GRCm39) |
E372G |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,386,991 (GRCm39) |
Q121L |
possibly damaging |
Het |
Apoa4 |
A |
T |
9: 46,154,178 (GRCm39) |
I260F |
possibly damaging |
Het |
Arhgap32 |
A |
T |
9: 32,157,272 (GRCm39) |
I90F |
probably damaging |
Het |
Arhgap5 |
A |
T |
12: 52,566,422 (GRCm39) |
Q1131L |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Cacna2d3 |
A |
T |
14: 28,691,322 (GRCm39) |
M1K |
probably null |
Het |
Ccdc18 |
G |
A |
5: 108,321,728 (GRCm39) |
|
probably null |
Het |
Ccdc42 |
T |
C |
11: 68,485,442 (GRCm39) |
F267S |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,173,085 (GRCm39) |
Y1700F |
probably damaging |
Het |
Cenpe |
A |
T |
3: 134,940,962 (GRCm39) |
S704C |
probably damaging |
Het |
Cenpe |
G |
A |
3: 134,940,963 (GRCm39) |
S704N |
probably benign |
Het |
Cfap299 |
A |
T |
5: 98,932,379 (GRCm39) |
D193V |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,710,881 (GRCm39) |
S2727T |
unknown |
Het |
Clu |
T |
A |
14: 66,209,281 (GRCm39) |
V113D |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,161,954 (GRCm39) |
I98V |
probably benign |
Het |
Epb41l1 |
C |
A |
2: 156,376,603 (GRCm39) |
|
probably null |
Het |
Etnk1 |
T |
A |
6: 143,148,880 (GRCm39) |
|
probably null |
Het |
Fnip1 |
A |
T |
11: 54,393,761 (GRCm39) |
K732N |
probably damaging |
Het |
G6pd2 |
A |
G |
5: 61,966,234 (GRCm39) |
E3G |
probably benign |
Het |
Gal3st2 |
A |
G |
1: 93,801,481 (GRCm39) |
T95A |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,590,829 (GRCm39) |
S948P |
probably damaging |
Het |
Ggps1 |
A |
T |
13: 14,228,750 (GRCm39) |
Y8* |
probably null |
Het |
Gria2 |
T |
C |
3: 80,614,279 (GRCm39) |
E587G |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,840,145 (GRCm39) |
E324G |
probably benign |
Het |
Il16 |
G |
A |
7: 83,295,596 (GRCm39) |
T493I |
probably benign |
Het |
Ints1 |
T |
C |
5: 139,754,217 (GRCm39) |
T652A |
possibly damaging |
Het |
Ism1 |
A |
G |
2: 139,599,199 (GRCm39) |
I391V |
probably damaging |
Het |
Katnb1 |
A |
G |
8: 95,825,012 (GRCm39) |
D598G |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,647,441 (GRCm39) |
S880G |
probably benign |
Het |
Klra8 |
T |
C |
6: 130,102,147 (GRCm39) |
N96S |
probably benign |
Het |
Krt79 |
T |
A |
15: 101,839,876 (GRCm39) |
D373V |
probably damaging |
Het |
Lamtor4 |
G |
A |
5: 138,257,374 (GRCm39) |
R92Q |
probably benign |
Het |
Lce1d |
C |
A |
3: 92,593,353 (GRCm39) |
C20F |
unknown |
Het |
Limk1 |
T |
C |
5: 134,701,553 (GRCm39) |
T117A |
probably benign |
Het |
Medag |
A |
T |
5: 149,350,708 (GRCm39) |
K61M |
probably benign |
Het |
Mkrn3 |
T |
C |
7: 62,069,366 (GRCm39) |
M142V |
probably benign |
Het |
Mob3c |
G |
A |
4: 115,688,779 (GRCm39) |
R104H |
probably benign |
Het |
Morc1 |
G |
T |
16: 48,447,433 (GRCm39) |
R903L |
possibly damaging |
Het |
Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
Nphp3 |
T |
G |
9: 103,893,315 (GRCm39) |
C434G |
probably null |
Het |
Npr3 |
C |
T |
15: 11,905,334 (GRCm39) |
C131Y |
probably damaging |
Het |
Oacyl |
C |
A |
18: 65,855,609 (GRCm39) |
Y112* |
probably null |
Het |
Oprl1 |
A |
G |
2: 181,360,174 (GRCm39) |
T77A |
probably damaging |
Het |
Osgep |
A |
G |
14: 51,162,165 (GRCm39) |
V24A |
probably damaging |
Het |
Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,101,581 (GRCm39) |
L922P |
probably benign |
Het |
Pgap4 |
A |
T |
4: 49,586,325 (GRCm39) |
M281K |
probably benign |
Het |
Phldb1 |
A |
G |
9: 44,605,705 (GRCm39) |
V375A |
probably damaging |
Het |
Pip5k1b |
C |
T |
19: 24,337,299 (GRCm39) |
|
probably null |
Het |
Psmd3 |
G |
A |
11: 98,573,592 (GRCm39) |
D13N |
probably benign |
Het |
Ptprc |
G |
A |
1: 137,992,291 (GRCm39) |
H1140Y |
probably damaging |
Het |
Ranbp3l |
A |
T |
15: 9,063,064 (GRCm39) |
H291L |
probably damaging |
Het |
Rasa4 |
T |
A |
5: 136,130,217 (GRCm39) |
D324E |
probably damaging |
Het |
Rilpl1 |
T |
A |
5: 124,641,755 (GRCm39) |
|
silent |
Het |
Rin2 |
A |
C |
2: 145,725,395 (GRCm39) |
D794A |
probably damaging |
Het |
Ripk1 |
A |
G |
13: 34,214,045 (GRCm39) |
I522M |
probably damaging |
Het |
Rnf31 |
T |
C |
14: 55,830,008 (GRCm39) |
Y143H |
probably benign |
Het |
Rp1 |
T |
G |
1: 4,112,291 (GRCm39) |
I1187L |
unknown |
Het |
Rps6ka5 |
G |
A |
12: 100,585,796 (GRCm39) |
H166Y |
probably damaging |
Het |
Rrm1 |
T |
C |
7: 102,109,541 (GRCm39) |
V455A |
probably damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn5a |
T |
G |
9: 119,314,996 (GRCm39) |
E1904A |
probably damaging |
Het |
Sec16a |
G |
T |
2: 26,326,014 (GRCm39) |
S240* |
probably null |
Het |
Slc22a8 |
C |
T |
19: 8,582,781 (GRCm39) |
T154I |
probably benign |
Het |
Slc25a16 |
T |
A |
10: 62,773,233 (GRCm39) |
V156E |
possibly damaging |
Het |
Slc28a3 |
A |
T |
13: 58,758,618 (GRCm39) |
S2T |
probably benign |
Het |
Srd5a3 |
G |
A |
5: 76,297,713 (GRCm39) |
V48I |
probably benign |
Het |
Srebf1 |
A |
C |
11: 60,091,352 (GRCm39) |
H1025Q |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,527,672 (GRCm39) |
K1310E |
probably benign |
Het |
Swt1 |
A |
G |
1: 151,246,381 (GRCm39) |
V848A |
possibly damaging |
Het |
Tanc2 |
A |
T |
11: 105,731,525 (GRCm39) |
T434S |
possibly damaging |
Het |
Tcf20 |
G |
A |
15: 82,738,883 (GRCm39) |
T856I |
probably benign |
Het |
Tcf7l2 |
T |
C |
19: 55,883,165 (GRCm39) |
|
probably null |
Het |
Trim45 |
A |
G |
3: 100,839,195 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
T |
A |
6: 115,524,933 (GRCm39) |
M44K |
possibly damaging |
Het |
Ttc21a |
T |
A |
9: 119,787,139 (GRCm39) |
C715* |
probably null |
Het |
Vmn2r102 |
G |
A |
17: 19,914,456 (GRCm39) |
V674I |
probably damaging |
Het |
Zfp87 |
A |
G |
13: 67,665,173 (GRCm39) |
S430P |
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 |
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 |
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'- GGAGGCAGTTCTGTGAAGACTC -3'
(R):5'- TGAGGCGCTCAGAATCCAAG -3'
Sequencing Primer
(F):5'- AATTCTTAGCGCTCAGGACG -3'
(R):5'- GGCGCTCAGAATCCAAGGATATTC -3'
|
Posted On |
2019-05-13 |