Incidental Mutation 'R2518:Copa'
ID |
254024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Copa
|
Ensembl Gene |
ENSMUSG00000026553 |
Gene Name |
coatomer protein complex subunit alpha |
Synonyms |
xenin |
MMRRC Submission |
040422-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R2518 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
171910096-171949897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 171947468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 1095
(N1095D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027833]
[ENSMUST00000135192]
|
AlphaFold |
Q8CIE6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027833
AA Change: N1104D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027833 Gene: ENSMUSG00000026553 AA Change: N1104D
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 benign
Transcript: ENSMUST00000135192
AA Change: N1095D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118179 Gene: ENSMUSG00000026553 AA Change: N1095D
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
A |
G |
8: 25,127,157 (GRCm39) |
C480R |
probably damaging |
Het |
Aftph |
G |
T |
11: 20,675,797 (GRCm39) |
T604K |
probably damaging |
Het |
Bivm |
T |
C |
1: 44,168,775 (GRCm39) |
V279A |
probably damaging |
Het |
C2cd2 |
G |
A |
16: 97,723,286 (GRCm39) |
T77I |
probably benign |
Het |
Ccdc146 |
T |
C |
5: 21,510,526 (GRCm39) |
H527R |
probably benign |
Het |
Cd226 |
A |
G |
18: 89,225,451 (GRCm39) |
N116S |
probably benign |
Het |
Cit |
A |
G |
5: 116,125,105 (GRCm39) |
K1612E |
probably damaging |
Het |
Cmtr1 |
T |
A |
17: 29,900,954 (GRCm39) |
Y663* |
probably null |
Het |
Col3a1 |
T |
A |
1: 45,376,672 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
G |
T |
2: 155,915,891 (GRCm39) |
A433E |
probably damaging |
Het |
Cyfip1 |
C |
T |
7: 55,578,032 (GRCm39) |
L1181F |
probably damaging |
Het |
Dnajc6 |
T |
A |
4: 101,470,127 (GRCm39) |
I220N |
probably damaging |
Het |
Duxbl1 |
G |
C |
14: 25,988,172 (GRCm39) |
|
probably benign |
Het |
Fam135b |
C |
T |
15: 71,335,760 (GRCm39) |
R478H |
probably benign |
Het |
Fam91a1 |
T |
A |
15: 58,322,449 (GRCm39) |
S734T |
possibly damaging |
Het |
Fut10 |
T |
G |
8: 31,726,495 (GRCm39) |
S417A |
probably benign |
Het |
Gm9945 |
C |
T |
11: 53,371,163 (GRCm39) |
|
probably benign |
Het |
Golga4 |
A |
G |
9: 118,385,680 (GRCm39) |
E934G |
probably damaging |
Het |
Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
Hdac5 |
A |
G |
11: 102,087,962 (GRCm39) |
V949A |
probably damaging |
Het |
Hdgfl1 |
G |
T |
13: 26,953,732 (GRCm39) |
L114I |
probably benign |
Het |
Ifi27l2b |
T |
A |
12: 103,422,083 (GRCm39) |
M94L |
unknown |
Het |
Irs2 |
C |
A |
8: 11,055,352 (GRCm39) |
A1027S |
probably benign |
Het |
Itga2 |
A |
T |
13: 115,017,578 (GRCm39) |
C111S |
probably damaging |
Het |
Khdrbs1 |
T |
C |
4: 129,614,540 (GRCm39) |
T338A |
probably benign |
Het |
Klk1 |
T |
C |
7: 43,870,161 (GRCm39) |
|
probably null |
Het |
Kmt2b |
T |
C |
7: 30,275,493 (GRCm39) |
N1822S |
probably benign |
Het |
Lrig3 |
T |
C |
10: 125,830,310 (GRCm39) |
I136T |
probably benign |
Het |
Lyar |
T |
A |
5: 38,385,276 (GRCm39) |
D105E |
probably benign |
Het |
Mat1a |
T |
A |
14: 40,844,469 (GRCm39) |
D366E |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
Neb |
T |
A |
2: 52,139,523 (GRCm39) |
K95* |
probably null |
Het |
Nectin4 |
A |
G |
1: 171,207,776 (GRCm39) |
D56G |
probably benign |
Het |
Nup58 |
A |
T |
14: 60,470,109 (GRCm39) |
F334Y |
probably damaging |
Het |
Or14a256 |
A |
T |
7: 86,265,395 (GRCm39) |
F153I |
probably benign |
Het |
Or9i1 |
A |
G |
19: 13,839,673 (GRCm39) |
N172S |
probably damaging |
Het |
Pde8a |
C |
A |
7: 80,967,170 (GRCm39) |
T437K |
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,719,377 (GRCm39) |
N512K |
possibly damaging |
Het |
Pramel12 |
A |
G |
4: 143,144,473 (GRCm39) |
Q273R |
possibly damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,068 (GRCm39) |
D330G |
probably damaging |
Het |
Ren1 |
G |
A |
1: 133,287,862 (GRCm39) |
A399T |
probably damaging |
Het |
Rnft2 |
G |
T |
5: 118,332,670 (GRCm39) |
|
probably benign |
Het |
Septin14 |
A |
T |
5: 129,776,099 (GRCm39) |
S27T |
probably benign |
Het |
Shld1 |
T |
A |
2: 132,592,447 (GRCm39) |
S165T |
probably damaging |
Het |
Shox2 |
T |
C |
3: 66,885,692 (GRCm39) |
K128E |
possibly damaging |
Het |
Skint1 |
T |
C |
4: 111,882,678 (GRCm39) |
W241R |
probably benign |
Het |
Slc24a4 |
T |
A |
12: 102,188,310 (GRCm39) |
H134Q |
probably benign |
Het |
Slc25a36 |
A |
T |
9: 96,961,124 (GRCm39) |
L165Q |
possibly damaging |
Het |
Slc35f1 |
A |
G |
10: 52,949,630 (GRCm39) |
I240V |
probably benign |
Het |
Slc66a1 |
A |
G |
4: 139,029,810 (GRCm39) |
F74L |
probably damaging |
Het |
Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
Tarbp2 |
A |
G |
15: 102,426,992 (GRCm39) |
E3G |
possibly damaging |
Het |
Tas2r130 |
A |
T |
6: 131,607,036 (GRCm39) |
I253K |
probably damaging |
Het |
Timm44 |
A |
C |
8: 4,316,588 (GRCm39) |
C319G |
probably null |
Het |
Tjap1 |
A |
T |
17: 46,571,021 (GRCm39) |
N165K |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,977,080 (GRCm39) |
I429T |
probably benign |
Het |
Trabd2b |
A |
T |
4: 114,457,100 (GRCm39) |
D339V |
probably damaging |
Het |
Tst |
T |
C |
15: 78,290,033 (GRCm39) |
M1V |
probably null |
Het |
Ube4a |
A |
T |
9: 44,859,435 (GRCm39) |
N335K |
probably benign |
Het |
Vps54 |
C |
T |
11: 21,256,394 (GRCm39) |
T633M |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
Zfp953 |
A |
G |
13: 67,496,003 (GRCm39) |
Y13H |
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 |
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'- ATCTCCGTGACGAGGTGTTC -3'
(R):5'- AAGATCTGGTTCCCCTCAAGTC -3'
Sequencing Primer
(F):5'- GACGAGGTGTTCCATTTCTCCG -3'
(R):5'- AAGTCACTGATGGAATTCCCCTG -3'
|
Posted On |
2014-12-04 |