Incidental Mutation 'R4773:Copa'
ID 367648
Institutional Source Beutler Lab
Gene Symbol Copa
Ensembl Gene ENSMUSG00000026553
Gene Name coatomer protein complex subunit alpha
Synonyms xenin
MMRRC Submission 042411-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R4773 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171910096-171949897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171932787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 371 (N371D)
Ref Sequence ENSEMBL: ENSMUSP00000118179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027833] [ENSMUST00000124289] [ENSMUST00000135192]
AlphaFold Q8CIE6
Predicted Effect probably damaging
Transcript: ENSMUST00000027833
AA Change: N371D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: N371D

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 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: ENSMUST00000126634
Predicted Effect probably damaging
Transcript: ENSMUST00000135192
AA Change: N371D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: N371D

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: ENSMUST00000150298
Predicted Effect probably benign
Transcript: ENSMUST00000152403
SMART Domains Protein: ENSMUSP00000123214
Gene: ENSMUSG00000026553

DomainStartEndE-ValueType
WD40 14 53 8.42e-7 SMART
WD40 56 94 1.38e1 SMART
Meta Mutation Damage Score 0.7300 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (89/89)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik A G 11: 50,982,089 (GRCm39) noncoding transcript Het
Actl7b T C 4: 56,740,972 (GRCm39) I129V probably benign Het
Adipor2 A G 6: 119,336,047 (GRCm39) L225P probably benign Het
Arhgap25 A G 6: 87,473,053 (GRCm39) F35L probably benign Het
Asah2 A T 19: 32,030,258 (GRCm39) M138K probably damaging Het
Asxl1 T A 2: 153,243,905 (GRCm39) M1486K probably damaging Het
B4galt4 T A 16: 38,572,658 (GRCm39) S114R probably benign Het
Brpf3 T G 17: 29,040,233 (GRCm39) S885A probably benign Het
Cacna1g G T 11: 94,302,298 (GRCm39) H1944N possibly damaging Het
Cby2 T A 14: 75,820,546 (GRCm39) Y393F probably damaging Het
Ccdc110 G A 8: 46,396,245 (GRCm39) C712Y probably damaging Het
Ccdc175 A T 12: 72,182,822 (GRCm39) I399N probably damaging Het
Cct8l1 A T 5: 25,722,754 (GRCm39) T490S probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cpeb1 A T 7: 81,005,695 (GRCm39) H381Q probably benign Het
Cyp2d40 T A 15: 82,645,763 (GRCm39) I81F possibly damaging Het
Dscc1 A T 15: 54,943,654 (GRCm39) D405E probably benign Het
Ece1 A G 4: 137,672,464 (GRCm39) D369G probably benign Het
Exd2 T C 12: 80,522,592 (GRCm39) V17A possibly damaging Het
Fam111a A T 19: 12,565,772 (GRCm39) N507I possibly damaging Het
Flnc T C 6: 29,445,038 (GRCm39) V719A possibly damaging Het
Fscb C T 12: 64,520,464 (GRCm39) G334D probably damaging Het
Glud1 T C 14: 34,043,782 (GRCm39) probably null Het
Gm8126 T A 14: 43,119,072 (GRCm39) Y180* probably null Het
Grip2 G A 6: 91,759,413 (GRCm39) P347L possibly damaging Het
H1f3 T C 13: 23,739,576 (GRCm39) S105P probably damaging Het
H60b C T 10: 22,164,644 (GRCm39) probably benign Het
Iqca1l A G 5: 24,755,596 (GRCm39) probably null Het
Itga6 T C 2: 71,652,788 (GRCm39) V217A probably benign Het
Kndc1 G A 7: 139,503,946 (GRCm39) W1083* probably null Het
Limch1 A T 5: 67,184,850 (GRCm39) D613V probably damaging Het
Lpl T A 8: 69,349,403 (GRCm39) C310S probably damaging Het
Marchf1 T A 8: 66,839,876 (GRCm39) C220S probably benign Het
Mbd5 A C 2: 49,164,623 (GRCm39) H308P probably damaging Het
Med13 T C 11: 86,167,746 (GRCm39) D2003G probably damaging Het
Mettl16 T A 11: 74,708,127 (GRCm39) V442D possibly damaging Het
Mstn A T 1: 53,101,267 (GRCm39) T115S probably benign Het
Mtcl2 G T 2: 156,872,489 (GRCm39) Q953K probably benign Het
Nfil3 A G 13: 53,122,050 (GRCm39) S285P probably damaging Het
Odad4 C A 11: 100,440,742 (GRCm39) N74K probably benign Het
Or10j3 A C 1: 173,031,796 (GRCm39) Y291S probably damaging Het
Or51a24 A G 7: 103,733,502 (GRCm39) S262P probably damaging Het
Otof A G 5: 30,552,026 (GRCm39) V321A probably benign Het
Pcdha8 G T 18: 37,127,626 (GRCm39) A703S probably damaging Het
Pcdhb18 A G 18: 37,623,507 (GRCm39) Y279C probably damaging Het
Pdgfa T C 5: 138,979,051 (GRCm39) D51G probably benign Het
Pdzd8 A G 19: 59,289,292 (GRCm39) Y703H probably damaging Het
Pecr G T 1: 72,306,594 (GRCm39) P229Q probably damaging Het
Phkg1 G T 5: 129,902,114 (GRCm39) probably null Het
Plxnb2 A T 15: 89,051,150 (GRCm39) H356Q probably benign Het
Polr1b T C 2: 128,947,248 (GRCm39) I191T probably benign Het
Ppp4r3a A G 12: 101,049,026 (GRCm39) L35P possibly damaging Het
Rasa2 C T 9: 96,426,470 (GRCm39) G792D probably benign Het
Rps11-ps4 T C 12: 51,344,406 (GRCm39) noncoding transcript Het
Sema3g A G 14: 30,942,666 (GRCm39) D89G probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slfn8 A G 11: 82,908,219 (GRCm39) V108A probably damaging Het
Smg9 T A 7: 24,107,019 (GRCm39) M221K possibly damaging Het
Sos1 A G 17: 80,705,660 (GRCm39) S1304P probably damaging Het
Sqle C A 15: 59,189,688 (GRCm39) A110E possibly damaging Het
Stab2 G A 10: 86,743,235 (GRCm39) Q1154* probably null Het
Taf4b A G 18: 14,937,577 (GRCm39) T217A probably benign Het
Tex15 T C 8: 34,072,760 (GRCm39) V2769A probably benign Het
Tmem156 A T 5: 65,237,502 (GRCm39) C53S probably damaging Het
Tmtc3 T A 10: 100,293,001 (GRCm39) K452N possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tph1 T C 7: 46,306,376 (GRCm39) E195G probably damaging Het
Trpc6 T A 9: 8,609,852 (GRCm39) Y107N possibly damaging Het
Tsga10 G A 1: 37,874,606 (GRCm39) T93I probably damaging Het
Ttn T A 2: 76,571,778 (GRCm39) N26372Y probably damaging Het
Tubd1 T C 11: 86,446,128 (GRCm39) L256P possibly damaging Het
Txnrd2 C G 16: 18,259,569 (GRCm39) A126G probably benign Het
Vmn1r210 T G 13: 23,011,374 (GRCm39) K304T probably benign Het
Vps25 T C 11: 101,149,655 (GRCm39) S160P probably benign Het
Vrk3 T A 7: 44,424,900 (GRCm39) D438E probably benign Het
Vwa5b1 A G 4: 138,309,066 (GRCm39) L708P probably benign Het
Washc3 C T 10: 88,055,124 (GRCm39) Q105* probably null Het
Wdr83os T A 8: 85,807,410 (GRCm39) probably benign Het
Wwc1 T C 11: 35,758,123 (GRCm39) H741R probably benign Het
Zan T C 5: 137,434,575 (GRCm39) probably benign Het
Zdhhc4 A T 5: 143,311,931 (GRCm39) L14I possibly damaging Het
Zfp568 T A 7: 29,697,195 (GRCm39) D38E 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
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
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'- TGACGATGGTGTAACTTCTGC -3'
(R):5'- AGGAGACAACTTGCTTAGCAGG -3'

Sequencing Primer
(F):5'- GTAACTTCTGCTGTGCTTTGAAC -3'
(R):5'- TGCTTAGCAGGTACCCACATG -3'
Posted On 2015-12-29