Incidental Mutation 'IGL02123:Copa'
ID 280714
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02123
Quality Score
Status
Chromosome 1
Chromosomal Location 171910096-171949897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 171939695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 621 (L621H)
Ref Sequence ENSEMBL: ENSMUSP00000027833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027833] [ENSMUST00000124289] [ENSMUST00000135192]
AlphaFold Q8CIE6
Predicted Effect probably damaging
Transcript: ENSMUST00000027833
AA Change: L621H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: L621H

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 probably benign
Transcript: ENSMUST00000124289
SMART Domains Protein: ENSMUSP00000118899
Gene: ENSMUSG00000026553

DomainStartEndE-ValueType
Blast:WD40 1 37 2e-19 BLAST
PDB:4J8G|B 1 52 2e-23 PDB
SCOP:d1erja_ 1 52 1e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133909
Predicted Effect probably damaging
Transcript: ENSMUST00000135192
AA Change: L612H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: L612H

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
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T C 7: 28,328,914 (GRCm39) T31A probably benign Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ampd3 T C 7: 110,401,766 (GRCm39) V429A possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cldn11 C T 3: 31,204,336 (GRCm39) T13M probably benign Het
Cngb3 C A 4: 19,367,801 (GRCm39) Q237K probably damaging Het
Col12a1 A G 9: 79,569,740 (GRCm39) probably null Het
Dbn1 T C 13: 55,624,553 (GRCm39) D332G possibly damaging Het
Drc1 T C 5: 30,504,448 (GRCm39) S197P probably benign Het
E2f2 A G 4: 135,900,159 (GRCm39) N23S probably benign Het
Epb41l2 T A 10: 25,336,742 (GRCm39) L246H probably damaging Het
Fam13b G A 18: 34,578,671 (GRCm39) probably benign Het
Fam184b A G 5: 45,796,493 (GRCm39) M30T possibly damaging Het
Fn3krp G A 11: 121,320,270 (GRCm39) R205H probably benign Het
Fndc11 A G 2: 180,863,443 (GRCm39) I83V probably benign Het
Garin2 T C 12: 78,780,981 (GRCm39) probably null Het
Gm3629 C T 14: 17,834,541 (GRCm39) R150H probably benign Het
Hs6st1 T A 1: 36,142,952 (GRCm39) F296I possibly damaging Het
Igsf10 T A 3: 59,226,081 (GRCm39) I2531F probably damaging Het
Klhl40 T C 9: 121,608,989 (GRCm39) F385L probably benign Het
Krt87 A T 15: 101,385,466 (GRCm39) M302K possibly damaging Het
Lrrc43 A T 5: 123,632,342 (GRCm39) I162F probably damaging Het
Map3k21 A G 8: 126,652,849 (GRCm39) E325G probably damaging Het
Mpo A T 11: 87,685,621 (GRCm39) N33I probably benign Het
Mpp4 A G 1: 59,200,625 (GRCm39) probably null Het
Muc5b C T 7: 141,417,494 (GRCm39) T3480I possibly damaging Het
Myo6 T C 9: 80,171,554 (GRCm39) probably benign Het
Nostrin C T 2: 68,986,453 (GRCm39) probably benign Het
Nphp1 T C 2: 127,595,969 (GRCm39) M498V probably benign Het
Nr4a2 A T 2: 57,001,667 (GRCm39) L199Q possibly damaging Het
Pcdhb6 A T 18: 37,468,873 (GRCm39) N598I probably damaging Het
Pex19 T A 1: 171,961,853 (GRCm39) M207K probably damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Plekha2 T C 8: 25,532,745 (GRCm39) K409E probably damaging Het
Plxna2 T C 1: 194,476,691 (GRCm39) L1169P probably damaging Het
Pmpcb A G 5: 21,948,373 (GRCm39) probably benign Het
Ptrh1 T C 2: 32,666,826 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,288,265 (GRCm39) E439G probably damaging Het
Ric1 C T 19: 29,572,200 (GRCm39) A665V probably benign Het
Stx18 T A 5: 38,285,447 (GRCm39) V219D probably damaging Het
Taf7 A T 18: 37,775,533 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,415,988 (GRCm39) I895T possibly damaging Het
Tbc1d8 A G 1: 39,419,317 (GRCm39) S766P probably damaging Het
Tekt3 C A 11: 62,974,766 (GRCm39) H362N probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tmem94 T C 11: 115,678,364 (GRCm39) S196P possibly damaging Het
Vmn2r14 T C 5: 109,367,933 (GRCm39) Y353C probably damaging Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vmn2r90 T G 17: 17,953,744 (GRCm39) M636R probably benign Het
Vmn2r98 T A 17: 19,300,941 (GRCm39) C648S probably damaging Het
Zfpm2 G A 15: 40,965,591 (GRCm39) C560Y 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
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
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
Posted On 2015-04-16