Incidental Mutation 'R4711:Copa'
ID 353248
Institutional Source Beutler Lab
Gene Symbol Copa
Ensembl Gene ENSMUSG00000026553
Gene Name coatomer protein complex subunit alpha
Synonyms xenin
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4711 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171910096-171949897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 171947555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 1124 (F1124V)
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: F1133V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: F1133V

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 damaging
Transcript: ENSMUST00000135192
AA Change: F1124V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: F1124V

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Bin3 A G 14: 70,366,288 (GRCm39) probably null Het
Ccser1 A G 6: 61,288,910 (GRCm39) N358D possibly damaging Het
Col20a1 G C 2: 180,634,284 (GRCm39) G83A probably damaging Het
Cyp2c66 G A 19: 39,151,843 (GRCm39) R186H possibly damaging Het
Dmxl2 G A 9: 54,358,208 (GRCm39) T323M probably benign Het
Dner T C 1: 84,361,618 (GRCm39) I664V possibly damaging Het
Erp29 A G 5: 121,583,293 (GRCm39) I211T possibly damaging Het
Exd1 A G 2: 119,369,232 (GRCm39) S128P possibly damaging Het
Grik4 T A 9: 42,540,389 (GRCm39) N264Y probably damaging Het
Gsdma2 T A 11: 98,540,439 (GRCm39) S119R probably damaging Het
H2ac1 C T 13: 24,118,796 (GRCm39) P118S possibly damaging Het
Ift140 T A 17: 25,313,691 (GRCm39) probably null Het
Ino80c T C 18: 24,247,222 (GRCm39) N59S probably benign Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mast4 A G 13: 103,470,627 (GRCm39) V25A probably benign Het
Mr1 T C 1: 155,012,336 (GRCm39) T193A probably benign Het
Muc5b C A 7: 141,399,770 (GRCm39) F414L unknown Het
Nat10 A T 2: 103,578,612 (GRCm39) C197* probably null Het
Nt5c1b A G 12: 10,420,093 (GRCm39) K11E probably damaging Het
Or5k8 A T 16: 58,645,069 (GRCm39) M1K probably null Het
Or8i2 T C 2: 86,852,370 (GRCm39) I173V probably damaging Het
Pak5 A G 2: 135,929,437 (GRCm39) I582T probably damaging Het
Pcdha12 A G 18: 37,153,976 (GRCm39) I232V probably benign Het
Pde8b T A 13: 95,166,958 (GRCm39) T664S probably benign Het
Pdik1l G C 4: 134,006,301 (GRCm39) R214G probably benign Het
Prss37 C T 6: 40,492,381 (GRCm39) V157M probably benign Het
Psma5-ps A G 10: 85,149,667 (GRCm39) noncoding transcript Het
Ring1 T C 17: 34,241,333 (GRCm39) E261G possibly damaging Het
Sf3a3 C A 4: 124,621,974 (GRCm39) D371E probably benign Het
Spag9 T A 11: 94,005,177 (GRCm39) probably null Het
Spred1 T A 2: 117,005,866 (GRCm39) S209R probably benign Het
Tas2r121 T C 6: 132,677,853 (GRCm39) T40A probably benign Het
Tbc1d5 T C 17: 51,242,537 (GRCm39) T187A probably damaging Het
Tenm2 C T 11: 36,191,039 (GRCm39) V311I probably damaging Het
Thoc2l T C 5: 104,667,527 (GRCm39) V683A probably damaging Het
Tnrc6a A G 7: 122,770,301 (GRCm39) D697G probably damaging Het
Trappc14 T C 5: 138,261,167 (GRCm39) probably benign Het
Ttn G A 2: 76,660,404 (GRCm39) A7439V possibly damaging Het
Wdr64 T C 1: 175,626,795 (GRCm39) I838T probably damaging Het
Wdr7 A G 18: 63,861,536 (GRCm39) T183A probably benign 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
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
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'- CGAGGTGTTCCATTTCTCCG -3'
(R):5'- AGGGCAGAACACTCTATTAGC -3'

Sequencing Primer
(F):5'- GTTTAAGAGGAAGAGCTAATCTGTC -3'
(R):5'- GGCAGAACACTCTATTAGCTTTCTTG -3'
Posted On 2015-10-21