Incidental Mutation 'R7194:Copa'
| ID |
559760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copa
|
| Ensembl Gene |
ENSMUSG00000026553 |
| Gene Name |
coatomer protein complex subunit alpha |
| Synonyms |
xenin |
| MMRRC Submission |
045335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R7194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171947511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1109
(L1109P)
|
| 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: L1118P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: L1118P
| 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 damaging
Transcript: ENSMUST00000135192
AA Change: L1109P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: L1109P
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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 |
|---|
| Aadat |
A |
G |
8: 60,979,656 (GRCm39) |
I173V |
probably benign |
Het |
| Abi3bp |
C |
T |
16: 56,382,734 (GRCm39) |
R115C |
probably damaging |
Het |
| Adam18 |
A |
G |
8: 25,141,868 (GRCm39) |
S234P |
possibly damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,449 (GRCm39) |
R520G |
probably benign |
Het |
| Angel2 |
C |
G |
1: 190,677,194 (GRCm39) |
T514R |
probably damaging |
Het |
| Ankar |
A |
T |
1: 72,698,192 (GRCm39) |
I954N |
probably benign |
Het |
| Ankrd7 |
A |
T |
6: 18,879,342 (GRCm39) |
Y262F |
probably benign |
Het |
| Ano8 |
C |
A |
8: 71,935,007 (GRCm39) |
L398F |
possibly damaging |
Het |
| App |
C |
T |
16: 84,822,319 (GRCm39) |
V356I |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,108,194 (GRCm39) |
E636* |
probably null |
Het |
| Cckbr |
G |
A |
7: 105,084,552 (GRCm39) |
E429K |
possibly damaging |
Het |
| Cfi |
T |
G |
3: 129,648,708 (GRCm39) |
S197R |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,263,162 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
C |
A |
1: 45,370,860 (GRCm39) |
A405D |
unknown |
Het |
| Colec12 |
A |
T |
18: 9,848,248 (GRCm39) |
N142I |
probably benign |
Het |
| Cpeb3 |
T |
A |
19: 37,152,152 (GRCm39) |
M75L |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,969 (GRCm39) |
Y204C |
probably benign |
Het |
| Defa17 |
A |
G |
8: 22,146,613 (GRCm39) |
T80A |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dppa5a |
C |
T |
9: 78,275,002 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
T |
3: 38,943,033 (GRCm39) |
S642I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,038,044 (GRCm39) |
C3899S |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,641,482 (GRCm39) |
V1869A |
probably damaging |
Het |
| Gm10308 |
A |
T |
17: 91,396,389 (GRCm39) |
I104L |
unknown |
Het |
| Gpr139 |
C |
T |
7: 118,743,896 (GRCm39) |
A230T |
possibly damaging |
Het |
| Grm8 |
T |
C |
6: 27,618,486 (GRCm39) |
N452S |
probably benign |
Het |
| Hmox1 |
T |
C |
8: 75,823,551 (GRCm39) |
V73A |
probably benign |
Het |
| Hspa4 |
A |
G |
11: 53,156,765 (GRCm39) |
F641L |
probably damaging |
Het |
| Ifi207 |
T |
G |
1: 173,557,490 (GRCm39) |
H416P |
possibly damaging |
Het |
| Igkv10-96 |
G |
T |
6: 68,609,028 (GRCm39) |
T89K |
possibly damaging |
Het |
| Kmt2d |
A |
C |
15: 98,741,714 (GRCm39) |
V4482G |
unknown |
Het |
| Krt28 |
T |
A |
11: 99,265,230 (GRCm39) |
K146* |
probably null |
Het |
| Krt82 |
T |
C |
15: 101,451,191 (GRCm39) |
N406S |
probably damaging |
Het |
| Marveld3 |
A |
T |
8: 110,686,477 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
C |
T |
11: 97,564,394 (GRCm39) |
S370L |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,585,750 (GRCm39) |
L26S |
unknown |
Het |
| Mup12 |
T |
A |
4: 60,696,734 (GRCm39) |
E48V |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,102,183 (GRCm39) |
V825I |
probably benign |
Het |
| Nipal3 |
G |
A |
4: 135,201,732 (GRCm39) |
T152I |
probably benign |
Het |
| Nrg3 |
A |
T |
14: 39,194,435 (GRCm39) |
M108K |
probably benign |
Het |
| Nup50l |
T |
G |
6: 96,141,756 (GRCm39) |
E429D |
probably benign |
Het |
| Oog3 |
A |
T |
4: 143,889,169 (GRCm39) |
I3N |
probably damaging |
Het |
| Or10d4c |
G |
A |
9: 39,558,387 (GRCm39) |
V122I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,827,792 (GRCm39) |
W122R |
|
Het |
| Pkhd1l1 |
T |
C |
15: 44,392,512 (GRCm39) |
C1616R |
probably damaging |
Het |
| Ppa2 |
T |
A |
3: 133,053,953 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
A |
7: 107,322,187 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
T |
C |
7: 126,385,653 (GRCm39) |
N229D |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 56,929,570 (GRCm39) |
F96L |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,241,094 (GRCm39) |
V742A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,312,591 (GRCm39) |
T1104A |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,813,557 (GRCm39) |
A644T |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,810,261 (GRCm39) |
T139S |
possibly damaging |
Het |
| Rfx5 |
T |
A |
3: 94,862,454 (GRCm39) |
I37N |
probably damaging |
Het |
| Rnf112 |
C |
T |
11: 61,341,683 (GRCm39) |
G374R |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,859,979 (GRCm39) |
I1034V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,447,538 (GRCm39) |
Y3195N |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,215,062 (GRCm39) |
I1243T |
probably benign |
Het |
| Sirt7 |
A |
T |
11: 120,509,799 (GRCm39) |
C362S |
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,276,640 (GRCm39) |
S130T |
probably damaging |
Het |
| Snrnp48 |
A |
C |
13: 38,393,875 (GRCm39) |
Y60S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,060,859 (GRCm39) |
E7260G |
probably damaging |
Het |
| Trbv15 |
C |
T |
6: 41,118,529 (GRCm39) |
T95I |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,771,943 (GRCm39) |
N68K |
probably benign |
Het |
| Ugcg |
A |
G |
4: 59,213,210 (GRCm39) |
Y132C |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,304,672 (GRCm39) |
C2391S |
probably damaging |
Het |
| Vmn1r103 |
C |
A |
7: 20,244,438 (GRCm39) |
V8L |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,649 (GRCm39) |
N403I |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,827,551 (GRCm39) |
S1006P |
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 |
|
R7009:Copa
|
UTSW |
1 |
171,918,567 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- GAGGTGTTCCATTTCTCCGC -3'
(R):5'- AGGGAGAAAGATATTGGCTTCTGC -3'
Sequencing Primer
(F):5'- GTTTAAGAGGAAGAGCTAATCTGTC -3'
(R):5'- GAAAGATATTGGCTTCTGCATCTTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation