Incidental Mutation 'R4953:Copa'
ID 381350
Institutional Source Beutler Lab
Gene Symbol Copa
Ensembl Gene ENSMUSG00000026553
Gene Name coatomer protein complex subunit alpha
Synonyms xenin
MMRRC Submission 042550-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4953 (G1)
Quality Score 138
Status Validated
Chromosome 1
Chromosomal Location 171910096-171949897 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 171910453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003550] [ENSMUST00000027833] [ENSMUST00000124289] [ENSMUST00000135192] [ENSMUST00000140643] [ENSMUST00000146137]
AlphaFold Q8CIE6
Predicted Effect probably benign
Transcript: ENSMUST00000003550
SMART Domains Protein: ENSMUSP00000003550
Gene: ENSMUSG00000003458

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:Peptidase_M28 254 468 2.9e-7 PFAM
Pfam:Nicastrin 273 498 1.6e-94 PFAM
transmembrane domain 669 691 N/A INTRINSIC
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 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 noncoding transcript
Transcript: ENSMUST00000134468
AA Change: D19G
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: ENSMUST00000138407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142825
Predicted Effect probably benign
Transcript: ENSMUST00000140643
SMART Domains Protein: ENSMUSP00000119128
Gene: ENSMUSG00000003458

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146137
SMART Domains Protein: ENSMUSP00000120663
Gene: ENSMUSG00000003458

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (113/116)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,128,525 (GRCm39) Y129H probably damaging Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Adgre1 G A 17: 57,748,321 (GRCm39) G507E probably damaging Het
Agpat5 G A 8: 18,918,971 (GRCm39) V118I probably benign Het
Aif1 T C 17: 35,390,074 (GRCm39) probably null Het
Akr1c6 A T 13: 4,488,608 (GRCm39) probably null Het
Akt2 T A 7: 27,337,597 (GRCm39) probably null Het
Ankrd35 T A 3: 96,590,989 (GRCm39) L425Q possibly damaging Het
Arhgap40 A G 2: 158,385,326 (GRCm39) T520A possibly damaging Het
Arhgef28 T A 13: 98,066,062 (GRCm39) D1597V possibly damaging Het
Aspm A G 1: 139,399,472 (GRCm39) D1079G probably benign Het
Atp1a2 A T 1: 172,119,009 (GRCm39) probably benign Het
Cage1 C A 13: 38,207,406 (GRCm39) E252D possibly damaging Het
Ccdc185 A G 1: 182,576,582 (GRCm39) S36P possibly damaging Het
Cd300a T C 11: 114,784,247 (GRCm39) V85A probably damaging Het
Cd38 A C 5: 44,064,887 (GRCm39) D235A possibly damaging Het
Cdcp1 T C 9: 123,009,088 (GRCm39) K530R probably benign Het
Ceacam20 T A 7: 19,705,651 (GRCm39) L214Q probably damaging Het
Cntn4 G A 6: 106,502,379 (GRCm39) A379T probably benign Het
Col4a2 A T 8: 11,479,505 (GRCm39) E796V probably benign Het
Cpa5 A G 6: 30,631,363 (GRCm39) T426A possibly damaging Het
Csmd1 A G 8: 16,249,931 (GRCm39) F1016L probably damaging Het
Cyb5r3 A T 15: 83,042,822 (GRCm39) L290* probably null Het
Ddx42 A G 11: 106,133,766 (GRCm39) T581A probably damaging Het
Deaf1 C T 7: 140,902,381 (GRCm39) G221S probably damaging Het
Dnah6 A G 6: 73,165,366 (GRCm39) S580P probably benign Het
Dock1 A G 7: 134,754,017 (GRCm39) E1598G probably benign Het
Drg2 T C 11: 60,350,262 (GRCm39) probably benign Het
Eif3f C A 7: 108,533,847 (GRCm39) probably benign Het
Fam184a G T 10: 53,574,901 (GRCm39) T236K probably benign Het
Gas7 C T 11: 67,550,876 (GRCm39) T126M possibly damaging Het
Gckr T G 5: 31,465,608 (GRCm39) F408C probably damaging Het
Gm17472 A G 6: 42,958,004 (GRCm39) D91G probably damaging Het
Gm5117 G A 8: 32,228,608 (GRCm39) noncoding transcript Het
Gsto1 T A 19: 47,843,759 (GRCm39) I47N probably damaging Het
Hck C T 2: 152,976,597 (GRCm39) P244S probably damaging Het
Hif3a T C 7: 16,784,490 (GRCm39) T250A probably damaging Het
Hmcn1 A T 1: 150,752,111 (GRCm39) probably benign Het
Impa1 G A 3: 10,380,340 (GRCm39) S247F probably damaging Het
Ints14 G C 9: 64,889,340 (GRCm39) R397P probably damaging Het
Iqgap1 T C 7: 80,373,524 (GRCm39) probably null Het
Krt1c T C 15: 101,722,377 (GRCm39) K436R probably damaging Het
Lama3 G A 18: 12,581,362 (GRCm39) C607Y probably damaging Het
Loxl4 G T 19: 42,599,133 (GRCm39) probably benign Het
Lrrc8d C T 5: 105,961,234 (GRCm39) T548M probably damaging Het
Man1b1 T A 2: 25,228,196 (GRCm39) D155E probably damaging Het
Mapk8ip2 C T 15: 89,341,431 (GRCm39) P214L probably benign Het
Mast1 G A 8: 85,645,357 (GRCm39) T696I probably damaging Het
Muc15 C T 2: 110,561,617 (GRCm39) P18S probably damaging Het
Mybl2 T C 2: 162,922,716 (GRCm39) S205P probably damaging Het
Mylk T C 16: 34,809,331 (GRCm39) S1763P probably damaging Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nfib A G 4: 82,271,808 (GRCm39) M252T probably benign Het
Nid2 C A 14: 19,828,146 (GRCm39) Y261* probably null Het
Nmd3 C T 3: 69,638,970 (GRCm39) R187C possibly damaging Het
Nomo1 G T 7: 45,700,155 (GRCm39) probably benign Het
Npy4r A G 14: 33,868,437 (GRCm39) F284L probably damaging Het
Nt5dc2 T C 14: 30,860,878 (GRCm39) V351A possibly damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or5b121 T A 19: 13,507,178 (GRCm39) L91Q probably null Het
Or5g27 T A 2: 85,410,069 (GRCm39) L162* probably null Het
Pcdhb12 T A 18: 37,569,209 (GRCm39) D118E probably damaging Het
Pdcd11 C T 19: 47,116,404 (GRCm39) T1518I probably benign Het
Pde6a T A 18: 61,364,434 (GRCm39) C163* probably null Het
Pign A T 1: 105,572,227 (GRCm39) W314R probably benign Het
Pip5k1b T A 19: 24,367,799 (GRCm39) H76L probably damaging Het
Plcz1 T C 6: 139,974,277 (GRCm39) N55S possibly damaging Het
Pou5f1 A T 17: 35,821,438 (GRCm39) H350L possibly damaging Het
Rchy1 A T 5: 92,110,487 (GRCm39) probably null Het
Ric8b A G 10: 84,793,946 (GRCm39) T270A possibly damaging Het
Rprml A G 11: 103,540,644 (GRCm39) E13G probably benign Het
Secisbp2 T A 13: 51,836,063 (GRCm39) I719N probably damaging Het
Sergef C T 7: 46,283,259 (GRCm39) R148H probably benign Het
Serpina6 T A 12: 103,618,221 (GRCm39) probably null Het
Sirpb1b C A 3: 15,613,887 (GRCm39) W65L probably damaging Het
Slc32a1 A T 2: 158,455,977 (GRCm39) I211F possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Smarce1 A G 11: 99,105,977 (GRCm39) V226A probably benign Het
Spata31d1b A T 13: 59,864,097 (GRCm39) E415V probably damaging Het
Speg G A 1: 75,400,508 (GRCm39) R2556H possibly damaging Het
Suclg2 A C 6: 95,543,417 (GRCm39) V338G probably damaging Het
Tarbp1 T C 8: 127,174,184 (GRCm39) E874G possibly damaging Het
Tex14 G T 11: 87,427,727 (GRCm39) probably null Het
Trim36 T A 18: 46,329,245 (GRCm39) D53V possibly damaging Het
Tsga10ip T A 19: 5,444,368 (GRCm39) Y21F possibly damaging Het
Ttn C T 2: 76,620,289 (GRCm39) V15849M probably damaging Het
Ube3b T C 5: 114,539,471 (GRCm39) S421P probably benign Het
Unc5a A T 13: 55,147,683 (GRCm39) M498L probably benign Het
Vipr2 A G 12: 116,107,876 (GRCm39) I420M probably benign Het
Vmn1r179 T A 7: 23,628,515 (GRCm39) H235Q probably damaging Het
Vps35 T A 8: 86,008,475 (GRCm39) I267F probably damaging Het
Wdr26 G A 1: 181,025,216 (GRCm39) R279W probably damaging Het
Xpo6 C A 7: 125,768,443 (GRCm39) R88L probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp105 T A 9: 122,758,880 (GRCm39) S184T probably benign Het
Zfp574 G A 7: 24,780,388 (GRCm39) R470H probably damaging Het
Zswim9 T A 7: 13,003,484 (GRCm39) H122L 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
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
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'- AGTCGTAGCCATCTTGCCTC -3'
(R):5'- ATACGAAGCAGCACGGACTG -3'

Sequencing Primer
(F):5'- AAGCCTCAGGTCCCTTCCAG -3'
(R):5'- GCACGGACTGCAGACTACTC -3'
Posted On 2016-04-27