Incidental Mutation 'R1942:Copa'
| ID |
216263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copa
|
| Ensembl Gene |
ENSMUSG00000026553 |
| Gene Name |
coatomer protein complex subunit alpha |
| Synonyms |
xenin |
| MMRRC Submission |
039960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R1942 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 171939455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 564
(L564Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000124289]
[ENSMUST00000135192]
|
| AlphaFold |
Q8CIE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027833
AA Change: L573Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: L573Q
| 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: L564Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: L564Q
| 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 |
|
| Meta Mutation Damage Score |
0.9277 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,949,625 (GRCm39) |
Y1174F |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,992,447 (GRCm39) |
E4577G |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 53,004,056 (GRCm39) |
V291A |
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,345,218 (GRCm39) |
E136G |
possibly damaging |
Het |
| Arhgap20 |
C |
A |
9: 51,742,998 (GRCm39) |
Q279K |
probably benign |
Het |
| B3galnt1 |
A |
T |
3: 69,483,258 (GRCm39) |
M1K |
probably null |
Het |
| C4bp |
C |
A |
1: 130,583,804 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
G |
A |
7: 28,906,232 (GRCm39) |
T157I |
possibly damaging |
Het |
| Cfap90 |
A |
C |
13: 68,761,090 (GRCm39) |
I171L |
probably benign |
Het |
| Chrm1 |
T |
A |
19: 8,655,637 (GRCm39) |
M114K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,429,078 (GRCm39) |
E329G |
possibly damaging |
Het |
| Clrn2 |
A |
C |
5: 45,611,337 (GRCm39) |
Y62S |
probably benign |
Het |
| Col12a1 |
T |
G |
9: 79,542,748 (GRCm39) |
D2339A |
probably damaging |
Het |
| Cpeb2 |
C |
A |
5: 43,392,596 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,572,573 (GRCm39) |
M647K |
probably damaging |
Het |
| Diaph3 |
C |
T |
14: 87,378,556 (GRCm39) |
|
probably benign |
Het |
| Eomes |
A |
G |
9: 118,313,716 (GRCm39) |
D587G |
probably benign |
Het |
| Gm5142 |
T |
A |
14: 59,416,156 (GRCm39) |
M1L |
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,923,957 (GRCm39) |
I12V |
probably benign |
Het |
| Gprin1 |
C |
T |
13: 54,887,752 (GRCm39) |
C174Y |
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,709,730 (GRCm39) |
V1272E |
possibly damaging |
Het |
| Hdac9 |
A |
G |
12: 34,479,544 (GRCm39) |
L227S |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,493,318 (GRCm39) |
L247Q |
probably benign |
Het |
| Hs6st1 |
T |
C |
1: 36,107,803 (GRCm39) |
V22A |
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,269,863 (GRCm39) |
A2304E |
possibly damaging |
Het |
| Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
| Il1rap |
A |
C |
16: 26,541,205 (GRCm39) |
E482A |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,689,670 (GRCm39) |
L581* |
probably null |
Het |
| Msmb |
A |
G |
14: 31,870,034 (GRCm39) |
E2G |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,776,666 (GRCm39) |
|
noncoding transcript |
Het |
| Muc4 |
A |
C |
16: 32,569,460 (GRCm39) |
L173F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,411,421 (GRCm39) |
S1456C |
unknown |
Het |
| Mylip |
A |
T |
13: 45,560,172 (GRCm39) |
I203F |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,952,039 (GRCm39) |
D1504E |
probably damaging |
Het |
| Neil1 |
C |
G |
9: 57,053,891 (GRCm39) |
R143P |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,325,447 (GRCm39) |
T742S |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,859,978 (GRCm39) |
V214A |
probably damaging |
Het |
| Nsun7 |
C |
T |
5: 66,441,588 (GRCm39) |
T419I |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,058,544 (GRCm39) |
E648K |
probably benign |
Het |
| Or10g6 |
T |
A |
9: 39,934,031 (GRCm39) |
L114H |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,934,048 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or2y1c |
T |
C |
11: 49,360,981 (GRCm39) |
M1T |
probably null |
Het |
| Or8s2 |
A |
G |
15: 98,276,445 (GRCm39) |
L182P |
probably damaging |
Het |
| Parp11 |
A |
C |
6: 127,447,663 (GRCm39) |
|
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,012,472 (GRCm39) |
|
probably null |
Het |
| Ppp1r14c |
T |
C |
10: 3,413,417 (GRCm39) |
I150T |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,295,805 (GRCm39) |
E908G |
probably damaging |
Het |
| Psmd6 |
A |
T |
14: 14,116,442 (GRCm38) |
V91E |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,406,830 (GRCm39) |
V634D |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
| Rbm45 |
G |
A |
2: 76,205,823 (GRCm39) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,578,416 (GRCm39) |
|
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,282,689 (GRCm39) |
K416E |
probably damaging |
Het |
| Six5 |
C |
T |
7: 18,830,858 (GRCm39) |
A495V |
possibly damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,689,870 (GRCm39) |
M112K |
probably damaging |
Het |
| Slc5a4a |
T |
C |
10: 75,983,422 (GRCm39) |
S20P |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,757,326 (GRCm39) |
|
probably benign |
Het |
| Sntb2 |
G |
A |
8: 107,737,984 (GRCm39) |
A511T |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,416,061 (GRCm39) |
N622I |
probably damaging |
Het |
| Sulf1 |
T |
C |
1: 12,918,397 (GRCm39) |
F38S |
probably damaging |
Het |
| Szt2 |
G |
T |
4: 118,249,817 (GRCm39) |
T521K |
probably benign |
Het |
| Terf1 |
G |
T |
1: 15,876,038 (GRCm39) |
R46I |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,923,511 (GRCm39) |
|
probably benign |
Het |
| Tmigd1 |
T |
C |
11: 76,804,905 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Umod |
A |
G |
7: 119,076,155 (GRCm39) |
Y204H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,851,543 (GRCm39) |
Q1139L |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,668 (GRCm39) |
T159S |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,562 (GRCm39) |
S779T |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,200,722 (GRCm39) |
A412T |
probably damaging |
Het |
| Zc3h12d |
A |
C |
10: 7,729,077 (GRCm39) |
D147A |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,243,272 (GRCm39) |
D564E |
probably benign |
Het |
| Zfp932 |
A |
G |
5: 110,154,853 (GRCm39) |
E17G |
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 |
|
|
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'- AGTTTGTAGCACCTGTTCTGTC -3'
(R):5'- TTCGGTGTGATAGGCAGAAAAC -3'
Sequencing Primer
(F):5'- GCACCTGTTCTGTCATAGAAAAG -3'
(R):5'- TGTGATAGGCAGAAAACAGATCACTC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation