Incidental Mutation 'R6283:Copa'
| ID |
508029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copa
|
| Ensembl Gene |
ENSMUSG00000026553 |
| Gene Name |
coatomer protein complex subunit alpha |
| Synonyms |
xenin |
| MMRRC Submission |
044453-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R6283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172082529-172122330 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 172118848 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 953
(H953L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000135192]
|
| AlphaFold |
Q8CIE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027833
AA Change: H953L
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: H953L
| 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 |
possibly damaging
Transcript: ENSMUST00000135192
AA Change: H944L
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: H944L
| 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 |
0.4829 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1300017J02Rik |
G |
A |
9: 103,282,635 (GRCm38) |
R14* |
probably null |
Het |
| Acsf3 |
C |
A |
8: 122,785,955 (GRCm38) |
R372S |
probably damaging |
Het |
| Adamts20 |
A |
G |
15: 94,351,721 (GRCm38) |
S472P |
probably benign |
Het |
| Bhlhe40 |
T |
C |
6: 108,665,031 (GRCm38) |
L312P |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,902,486 (GRCm38) |
E305G |
possibly damaging |
Het |
| Ccdc83 |
T |
A |
7: 90,236,407 (GRCm38) |
R257* |
probably null |
Het |
| Cd209e |
G |
A |
8: 3,849,212 (GRCm38) |
Q167* |
probably null |
Het |
| Cd300e |
G |
A |
11: 115,054,554 (GRCm38) |
T138I |
probably benign |
Het |
| Ces2c |
A |
T |
8: 104,849,699 (GRCm38) |
M115L |
probably benign |
Het |
| Cfap61 |
T |
A |
2: 146,129,102 (GRCm38) |
|
probably null |
Het |
| Chd1l |
G |
A |
3: 97,587,167 (GRCm38) |
A399V |
probably damaging |
Het |
| Cic |
C |
T |
7: 25,286,034 (GRCm38) |
S301L |
probably damaging |
Het |
| Cks2 |
A |
G |
13: 51,645,459 (GRCm38) |
H16R |
probably benign |
Het |
| Ctdsp2 |
T |
C |
10: 126,995,880 (GRCm38) |
V145A |
possibly damaging |
Het |
| Cyp2j13 |
A |
G |
4: 96,056,837 (GRCm38) |
V377A |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,274,805 (GRCm38) |
V404A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,707,325 (GRCm38) |
S340G |
probably damaging |
Het |
| Ggps1 |
A |
G |
13: 14,057,794 (GRCm38) |
|
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,464,305 (GRCm38) |
|
probably benign |
Het |
| Gm11444 |
T |
C |
11: 85,846,791 (GRCm38) |
|
probably null |
Het |
| Gm853 |
A |
G |
4: 130,221,741 (GRCm38) |
S5P |
probably benign |
Het |
| Grina |
A |
G |
15: 76,248,551 (GRCm38) |
T173A |
possibly damaging |
Het |
| Hcrtr1 |
G |
A |
4: 130,135,340 (GRCm38) |
T223I |
probably benign |
Het |
| Igsf10 |
T |
A |
3: 59,319,449 (GRCm38) |
T2268S |
probably damaging |
Het |
| Ino80d |
C |
T |
1: 63,062,126 (GRCm38) |
R447Q |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 81,770,833 (GRCm38) |
T94M |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 114,869,250 (GRCm38) |
Y465H |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 119,070,286 (GRCm38) |
T823A |
probably damaging |
Het |
| Krtap4-16 |
A |
G |
11: 99,851,035 (GRCm38) |
S180P |
unknown |
Het |
| Lpar6 |
A |
T |
14: 73,238,857 (GRCm38) |
D86V |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,816,864 (GRCm38) |
C2500* |
probably null |
Het |
| Mzf1 |
T |
C |
7: 13,053,369 (GRCm38) |
|
probably benign |
Het |
| Olfr1032 |
G |
T |
2: 86,008,099 (GRCm38) |
V108L |
possibly damaging |
Het |
| Olfr1176 |
T |
A |
2: 88,339,658 (GRCm38) |
I31N |
probably benign |
Het |
| Olfr1311 |
A |
C |
2: 112,021,260 (GRCm38) |
M198R |
possibly damaging |
Het |
| Olfr1352 |
T |
C |
10: 78,984,279 (GRCm38) |
V163A |
probably benign |
Het |
| Otogl |
T |
G |
10: 107,790,500 (GRCm38) |
E1501A |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,381,554 (GRCm38) |
S768T |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 125,877,586 (GRCm38) |
Q644K |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,660,226 (GRCm38) |
I180F |
possibly damaging |
Het |
| Pinx1 |
A |
C |
14: 63,878,172 (GRCm38) |
N152T |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,830,264 (GRCm38) |
E629G |
probably benign |
Het |
| Qpctl |
T |
A |
7: 19,148,420 (GRCm38) |
I104F |
probably benign |
Het |
| Rabep1 |
C |
T |
11: 70,917,679 (GRCm38) |
A444V |
probably damaging |
Het |
| Rnf150 |
A |
G |
8: 82,990,554 (GRCm38) |
Y230C |
probably damaging |
Het |
| Slc25a27 |
A |
C |
17: 43,657,730 (GRCm38) |
V152G |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,384,333 (GRCm38) |
S772P |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,874,494 (GRCm38) |
T1711A |
probably benign |
Het |
| Tfap2d |
G |
C |
1: 19,104,478 (GRCm38) |
G52R |
probably benign |
Het |
| Tmem265 |
T |
G |
7: 127,564,872 (GRCm38) |
V86G |
possibly damaging |
Het |
| Trpm8 |
C |
T |
1: 88,348,332 (GRCm38) |
H551Y |
probably benign |
Het |
| Ttc6 |
T |
G |
12: 57,702,262 (GRCm38) |
Y1327D |
possibly damaging |
Het |
| Uevld |
G |
T |
7: 46,937,981 (GRCm38) |
Q324K |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 (GRCm38) |
N549S |
possibly damaging |
Het |
| Vmn2r73 |
C |
T |
7: 85,871,841 (GRCm38) |
M306I |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,304,104 (GRCm38) |
M120K |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,769,908 (GRCm38) |
I1016F |
probably benign |
Het |
| Zfp90 |
T |
C |
8: 106,425,394 (GRCm38) |
C580R |
probably damaging |
Het |
|
| Other mutations in Copa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Copa
|
APN |
1 |
172,110,688 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01360:Copa
|
APN |
1 |
172,087,588 (GRCm38) |
splice site |
probably null |
|
|
IGL01434:Copa
|
APN |
1 |
172,119,561 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01744:Copa
|
APN |
1 |
172,113,189 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01837:Copa
|
APN |
1 |
172,118,852 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01988:Copa
|
APN |
1 |
172,118,264 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02059:Copa
|
APN |
1 |
172,099,753 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02123:Copa
|
APN |
1 |
172,112,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02731:Copa
|
APN |
1 |
172,102,218 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL03114:Copa
|
APN |
1 |
172,119,268 (GRCm38) |
nonsense |
probably null |
|
|
P0027:Copa
|
UTSW |
1 |
172,111,948 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
PIT4434001:Copa
|
UTSW |
1 |
172,106,175 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0233:Copa
|
UTSW |
1 |
172,087,667 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0465:Copa
|
UTSW |
1 |
172,118,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0547:Copa
|
UTSW |
1 |
172,121,687 (GRCm38) |
splice site |
probably benign |
|
|
R0568:Copa
|
UTSW |
1 |
172,112,137 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0628:Copa
|
UTSW |
1 |
172,091,025 (GRCm38) |
splice site |
probably benign |
|
|
R1328:Copa
|
UTSW |
1 |
172,121,691 (GRCm38) |
splice site |
probably benign |
|
|
R1494:Copa
|
UTSW |
1 |
172,104,127 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1728:Copa
|
UTSW |
1 |
172,111,987 (GRCm38) |
missense |
probably benign |
|
|
R1758:Copa
|
UTSW |
1 |
172,104,144 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1784:Copa
|
UTSW |
1 |
172,111,987 (GRCm38) |
missense |
probably benign |
|
|
R1942:Copa
|
UTSW |
1 |
172,111,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2054:Copa
|
UTSW |
1 |
172,118,957 (GRCm38) |
nonsense |
probably null |
|
|
R2299:Copa
|
UTSW |
1 |
172,121,725 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2518:Copa
|
UTSW |
1 |
172,119,901 (GRCm38) |
missense |
probably benign |
|
|
R2680:Copa
|
UTSW |
1 |
172,121,404 (GRCm38) |
nonsense |
probably null |
|
|
R3080:Copa
|
UTSW |
1 |
172,113,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3160:Copa
|
UTSW |
1 |
172,091,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3161:Copa
|
UTSW |
1 |
172,091,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3162:Copa
|
UTSW |
1 |
172,091,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3162:Copa
|
UTSW |
1 |
172,091,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3973:Copa
|
UTSW |
1 |
172,121,245 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3975:Copa
|
UTSW |
1 |
172,121,245 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4031:Copa
|
UTSW |
1 |
172,108,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4155:Copa
|
UTSW |
1 |
172,101,425 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4227:Copa
|
UTSW |
1 |
172,118,115 (GRCm38) |
intron |
probably benign |
|
|
R4244:Copa
|
UTSW |
1 |
172,110,718 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4254:Copa
|
UTSW |
1 |
172,102,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4291:Copa
|
UTSW |
1 |
172,092,397 (GRCm38) |
intron |
probably benign |
|
|
R4323:Copa
|
UTSW |
1 |
172,119,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4402:Copa
|
UTSW |
1 |
172,102,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4711:Copa
|
UTSW |
1 |
172,119,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4721:Copa
|
UTSW |
1 |
172,104,274 (GRCm38) |
splice site |
probably benign |
|
|
R4773:Copa
|
UTSW |
1 |
172,105,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4794:Copa
|
UTSW |
1 |
172,119,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4887:Copa
|
UTSW |
1 |
172,092,276 (GRCm38) |
missense |
probably benign |
0.39 |
|
R4953:Copa
|
UTSW |
1 |
172,082,886 (GRCm38) |
unclassified |
probably benign |
|
|
R5139:Copa
|
UTSW |
1 |
172,121,329 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5152:Copa
|
UTSW |
1 |
172,118,061 (GRCm38) |
missense |
probably benign |
0.34 |
|
R5297:Copa
|
UTSW |
1 |
172,113,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5586:Copa
|
UTSW |
1 |
172,105,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5698:Copa
|
UTSW |
1 |
172,118,944 (GRCm38) |
nonsense |
probably null |
|
|
R6921:Copa
|
UTSW |
1 |
172,111,924 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6934:Copa
|
UTSW |
1 |
172,110,686 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7009:Copa
|
UTSW |
1 |
172,091,000 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7194:Copa
|
UTSW |
1 |
172,119,944 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7348:Copa
|
UTSW |
1 |
172,102,223 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7710:Copa
|
UTSW |
1 |
172,109,844 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R7745:Copa
|
UTSW |
1 |
172,111,942 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7893:Copa
|
UTSW |
1 |
172,119,565 (GRCm38) |
nonsense |
probably null |
|
|
R8168:Copa
|
UTSW |
1 |
172,099,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8273:Copa
|
UTSW |
1 |
172,118,979 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8704:Copa
|
UTSW |
1 |
172,104,126 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8754:Copa
|
UTSW |
1 |
172,108,359 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8757:Copa
|
UTSW |
1 |
172,119,514 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8759:Copa
|
UTSW |
1 |
172,119,514 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8885:Copa
|
UTSW |
1 |
172,097,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8891:Copa
|
UTSW |
1 |
172,119,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8927:Copa
|
UTSW |
1 |
172,104,170 (GRCm38) |
missense |
probably null |
0.03 |
|
R8928:Copa
|
UTSW |
1 |
172,104,170 (GRCm38) |
missense |
probably null |
0.03 |
|
R8956:Copa
|
UTSW |
1 |
172,109,913 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9063:Copa
|
UTSW |
1 |
172,116,962 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9295:Copa
|
UTSW |
1 |
172,112,256 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9364:Copa
|
UTSW |
1 |
172,117,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9437:Copa
|
UTSW |
1 |
172,104,145 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9673:Copa
|
UTSW |
1 |
172,118,081 (GRCm38) |
missense |
probably benign |
0.11 |
|
T0722:Copa
|
UTSW |
1 |
172,111,948 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
Z1177:Copa
|
UTSW |
1 |
172,106,123 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCACTTGCTGTCACTCGC -3'
(R):5'- TGTCACTGTGGCTATCATCTG -3'
Sequencing Primer
(F):5'- CGCTCTGTTGGTTACTCTGAAGTAC -3'
(R):5'- CACTGTGGCTATCATCTGAAATATCC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation