Incidental Mutation 'R8927:Copa'
ID 690116
Institutional Source Beutler Lab
Gene Symbol Copa
Ensembl Gene ENSMUSG00000026553
Gene Name coatomer protein complex subunit alpha
Synonyms xenin
MMRRC Submission 068771-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R8927 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 171910096-171949897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 171931737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 329 (H329Q)
Ref Sequence ENSEMBL: ENSMUSP00000118179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027833] [ENSMUST00000124289] [ENSMUST00000135192]
AlphaFold Q8CIE6
Predicted Effect probably null
Transcript: ENSMUST00000027833
AA Change: H329Q

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: H329Q

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 probably null
Transcript: ENSMUST00000135192
AA Change: H329Q

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: H329Q

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
SMART Domains Protein: ENSMUSP00000123214
Gene: ENSMUSG00000026553
AA Change: H104Q

DomainStartEndE-ValueType
WD40 14 53 8.42e-7 SMART
WD40 56 94 1.38e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (78/79)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik A T 16: 97,867,367 (GRCm39) H198Q probably damaging Het
Abcb9 T C 5: 124,221,706 (GRCm39) T223A probably benign Het
Actc1 T A 2: 113,880,881 (GRCm39) K115* probably null Het
Angptl2 G A 2: 33,132,316 (GRCm39) D308N probably benign Het
Arl4d A C 11: 101,557,892 (GRCm39) Q139H possibly damaging Het
Aspm T A 1: 139,418,125 (GRCm39) C2951* probably null Het
Atp23 A T 10: 126,723,362 (GRCm39) *247R probably null Het
B3gnt7 T A 1: 86,232,839 (GRCm39) S28R probably benign Het
Bmp7 C T 2: 172,721,211 (GRCm39) R288H probably damaging Het
Bsdc1 G T 4: 129,355,439 (GRCm39) probably benign Het
Capn13 T C 17: 73,631,761 (GRCm39) probably null Het
Ccdc146 T C 5: 21,538,060 (GRCm39) E88G probably damaging Het
Ccdc73 C A 2: 104,822,542 (GRCm39) D2E Het
Cdc5l C A 17: 45,721,839 (GRCm39) R477L Het
Cdh22 T A 2: 164,965,504 (GRCm39) H529L possibly damaging Het
Chchd3 T A 6: 32,780,951 (GRCm39) E178D probably benign Het
Ciz1 A T 2: 32,257,512 (GRCm39) R186* probably null Het
Col4a2 A G 8: 11,475,543 (GRCm39) probably null Het
Dcaf7 A G 11: 105,942,752 (GRCm39) D233G probably damaging Het
Dclk2 G T 3: 86,739,048 (GRCm39) P317Q probably damaging Het
Dgat2 T C 7: 98,818,710 (GRCm39) Y90C probably benign Het
Dsc3 A T 18: 20,107,234 (GRCm39) H462Q probably benign Het
Fam151a T A 4: 106,603,242 (GRCm39) probably benign Het
Fn1 T C 1: 71,638,535 (GRCm39) N1998S probably benign Het
Fpr2 T C 17: 18,113,724 (GRCm39) L240S possibly damaging Het
Fzd9 A T 5: 135,278,589 (GRCm39) M432K probably damaging Het
Gm5862 T A 5: 26,226,678 (GRCm39) I75F probably damaging Het
Gpr45 T A 1: 43,072,314 (GRCm39) V319D probably damaging Het
H4c11 T C 13: 21,919,525 (GRCm39) V87A possibly damaging Het
Igfn1 T A 1: 135,905,984 (GRCm39) R275W probably damaging Het
Inafm1 G A 7: 16,006,980 (GRCm39) A79V unknown Het
Itfg1 C T 8: 86,567,420 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,356,535 (GRCm39) probably null Het
Klhl35 T G 7: 99,120,221 (GRCm39) I366S probably damaging Het
Lysmd1 A T 3: 95,045,831 (GRCm39) I223F probably damaging Het
Mrps30 A G 13: 118,523,205 (GRCm39) L189P probably damaging Het
Ms4a4d A C 19: 11,533,574 (GRCm39) T152P probably benign Het
Mtcl1 A T 17: 66,755,628 (GRCm39) I238K probably benign Het
Musk T C 4: 58,301,638 (GRCm39) I132T probably damaging Het
Myh2 A T 11: 67,079,509 (GRCm39) M989L probably benign Het
Myh8 G A 11: 67,174,081 (GRCm39) R172H probably benign Het
Nt5c1a C T 4: 123,102,281 (GRCm39) T69M possibly damaging Het
Nuak2 T A 1: 132,255,916 (GRCm39) D196E probably damaging Het
Or52h7 A T 7: 104,214,229 (GRCm39) H267L probably damaging Het
Or5ap2 A T 2: 85,679,918 (GRCm39) I41F possibly damaging Het
Or5t7 T C 2: 86,507,630 (GRCm39) T16A probably benign Het
Or8k53 T C 2: 86,178,090 (GRCm39) T7A possibly damaging Het
Or8s10 A G 15: 98,336,519 (GRCm39) probably benign Het
Palb2 A T 7: 121,723,821 (GRCm39) C643S probably damaging Het
Pde5a T A 3: 122,633,249 (GRCm39) I706N probably damaging Het
Pdlim4 T C 11: 53,950,790 (GRCm39) R100G probably benign Het
Pip5k1c T A 10: 81,128,906 (GRCm39) V5E possibly damaging Het
Pira1 A C 7: 3,742,358 (GRCm39) N56K probably benign Het
Plekhm1 A G 11: 103,268,039 (GRCm39) V644A probably benign Het
Plk2 T G 13: 110,535,750 (GRCm39) V524G probably damaging Het
Ppl T A 16: 4,905,474 (GRCm39) N1607I probably benign Het
Prag1 T G 8: 36,614,360 (GRCm39) V1304G probably damaging Het
Prex1 C T 2: 166,426,995 (GRCm39) V1077M probably damaging Het
Prmt6 T C 3: 110,158,248 (GRCm39) S14G probably benign Het
Psrc1 T G 3: 108,293,973 (GRCm39) S263R probably damaging Het
Qrfprl C A 6: 65,358,597 (GRCm39) S107* probably null Het
Rbp7 A T 4: 149,537,958 (GRCm39) L36* probably null Het
Rgs12 G T 5: 35,123,633 (GRCm39) W472L possibly damaging Het
Rrp8 C A 7: 105,384,073 (GRCm39) C143F possibly damaging Het
Sart1 T C 19: 5,438,529 (GRCm39) S43G probably benign Het
Setx A G 2: 29,016,971 (GRCm39) T25A possibly damaging Het
Skint5 G A 4: 113,341,099 (GRCm39) T1414I probably benign Het
Sorbs2 T A 8: 46,248,952 (GRCm39) S734R probably damaging Het
Spata31g1 A T 4: 42,972,251 (GRCm39) Y528F probably benign Het
Spon1 T C 7: 113,629,592 (GRCm39) probably null Het
Sptbn1 C T 11: 30,088,962 (GRCm39) V767I probably damaging Het
Srf T C 17: 46,860,095 (GRCm39) I477V probably damaging Het
Tanc2 A G 11: 105,701,331 (GRCm39) Y282C probably damaging Het
Tbc1d23 A G 16: 56,992,152 (GRCm39) Y603H probably damaging Het
Tdpoz6 T A 3: 93,599,950 (GRCm39) T140S probably benign Het
Tfap4 T C 16: 4,369,218 (GRCm39) D134G probably damaging Het
Tmem200c A G 17: 69,148,733 (GRCm39) T439A probably benign Het
Tmem63b A T 17: 45,975,908 (GRCm39) M515K probably damaging Het
Tnc A T 4: 63,925,595 (GRCm39) N980K probably damaging Het
Ttc23l T A 15: 10,530,720 (GRCm39) L297F probably damaging Het
Vinac1 A G 2: 128,882,789 (GRCm39) S76P Het
Vmn1r170 A G 7: 23,305,814 (GRCm39) N72S possibly damaging Het
Vmn2r8 T C 5: 108,950,131 (GRCm39) M239V Het
Vopp1 A G 6: 57,731,578 (GRCm39) F138L probably damaging Het
Vps41 T A 13: 18,929,501 (GRCm39) F79I probably benign Het
Zfp317 T C 9: 19,552,521 (GRCm39) M1T probably null 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
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
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'- ACCTAGGCACAGTCCATCTC -3'
(R):5'- GGCAGTCCATATCTGACAGCTG -3'

Sequencing Primer
(F):5'- GTCCATCTCCAAGCTGTAGTAGATG -3'
(R):5'- CAGTCCATATCTGACAGCTGAGATTC -3'
Posted On 2021-11-19