Incidental Mutation 'R4227:Copa'
ID 320063
Institutional Source Beutler Lab
Gene Symbol Copa
Ensembl Gene ENSMUSG00000026553
Gene Name coatomer protein complex subunit alpha
Synonyms xenin
MMRRC Submission 041047-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4227 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171910096-171949897 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 171945682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027833] [ENSMUST00000135192]
AlphaFold Q8CIE6
Predicted Effect probably benign
Transcript: ENSMUST00000027833
SMART Domains Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553

DomainStartEndE-ValueType
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: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (56/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,115,120 (GRCm39) T609A probably damaging Het
Agbl2 T G 2: 90,631,797 (GRCm39) L385R probably damaging Het
Arfgef2 A T 2: 166,709,244 (GRCm39) D1107V probably damaging Het
Arhgef5 C T 6: 43,256,432 (GRCm39) A1180V probably damaging Het
B9d1 C G 11: 61,403,483 (GRCm39) R160G probably damaging Het
Birc6 T C 17: 74,926,835 (GRCm39) probably null Het
Capn11 A G 17: 45,953,392 (GRCm39) probably null Het
Ceacam12 G T 7: 17,805,678 (GRCm39) M288I probably benign Het
Cfhr3 T A 1: 139,536,046 (GRCm39) noncoding transcript Het
Cypt4 A G 9: 24,536,788 (GRCm39) M93V probably benign Het
Fat3 G A 9: 16,288,989 (GRCm39) T178I probably damaging Het
Gm15931 A G 7: 4,277,793 (GRCm39) noncoding transcript Het
Gm9871 A G 6: 101,773,654 (GRCm39) noncoding transcript Het
Gpsm1 T C 2: 26,229,638 (GRCm39) probably benign Het
Grhl1 A G 12: 24,661,850 (GRCm39) T510A probably benign Het
Kcnn3 A C 3: 89,428,482 (GRCm39) H236P possibly damaging Het
Kif21b T A 1: 136,081,831 (GRCm39) probably null Het
Lcn3 G T 2: 25,656,123 (GRCm39) M59I probably benign Het
Mrps27 C G 13: 99,547,848 (GRCm39) P253A probably damaging Het
Mug2 A T 6: 122,017,691 (GRCm39) D476V probably benign Het
Naca A T 10: 127,877,530 (GRCm39) probably benign Het
Naip5 A G 13: 100,349,276 (GRCm39) S1351P probably damaging Het
Odf2 A G 2: 29,791,296 (GRCm39) probably benign Het
Or2a56 A G 6: 42,932,648 (GRCm39) Y72C possibly damaging Het
Or4g17 A G 2: 111,209,410 (GRCm39) K22E probably benign Het
Or52ab7 A T 7: 102,978,026 (GRCm39) H111L probably damaging Het
Or5w18 T A 2: 87,633,219 (GRCm39) I162N probably damaging Het
P3h2 G T 16: 25,924,203 (GRCm39) D77E probably benign Het
Pcbp2 A G 15: 102,387,066 (GRCm39) M87V probably benign Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhh2 A G 17: 84,874,223 (GRCm39) T503A probably benign Het
Pnpla3 C A 15: 84,063,391 (GRCm39) N256K probably benign Het
Polh A G 17: 46,483,520 (GRCm39) S582P probably benign Het
Ptprb T C 10: 116,138,130 (GRCm39) Y345H possibly damaging Het
Rasl11b T A 5: 74,358,852 (GRCm39) I119N probably damaging Het
Rnaseh2a G A 8: 85,686,702 (GRCm39) T149I possibly damaging Het
Serpina10 A G 12: 103,594,674 (GRCm39) Y182H probably damaging Het
Serpina1d A G 12: 103,733,740 (GRCm39) V188A probably benign Het
Setd1a C A 7: 127,395,819 (GRCm39) probably benign Het
Slc17a8 T C 10: 89,434,575 (GRCm39) N184S probably damaging Het
Spen C T 4: 141,249,458 (GRCm39) S110N unknown Het
Tas1r1 T C 4: 152,112,729 (GRCm39) I775V probably damaging Het
Tktl2 A G 8: 66,966,351 (GRCm39) probably null Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmprss6 C T 15: 78,330,899 (GRCm39) V43M probably damaging Het
Try5 A G 6: 41,290,401 (GRCm39) Y28H possibly damaging Het
Urad A T 5: 147,252,100 (GRCm39) F117L probably damaging Het
Vegfc A G 8: 54,612,445 (GRCm39) Y156C probably damaging Het
Vmn2r45 A T 7: 8,486,277 (GRCm39) V337E probably damaging Het
Vmn2r6 A T 3: 64,445,369 (GRCm39) F696L probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp131 T C 13: 120,228,282 (GRCm39) D455G probably damaging Het
Other mutations in Copa
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGAACACAGTACTTGGATGGC -3'
(R):5'- GTGATCTACTGGAAGCTGGG -3'

Sequencing Primer
(F):5'- TGCACAAAGCCCTTGATTGG -3'
(R):5'- AGCTGGGAGTTATTGCACCAGATC -3'
Posted On 2015-06-12