Incidental Mutation 'R7009:Copa'
ID 544872
Institutional Source Beutler Lab
Gene Symbol Copa
Ensembl Gene ENSMUSG00000026553
Gene Name coatomer protein complex subunit alpha
Synonyms xenin
MMRRC Submission 045111-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R7009 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 172082529-172122330 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 172091000 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 97 (R97L)
Ref Sequence ENSEMBL: ENSMUSP00000118179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027833] [ENSMUST00000124289] [ENSMUST00000135192]
AlphaFold Q8CIE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000027833
AA Change: R97L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: R97L

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 silent
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 damaging
Transcript: ENSMUST00000135192
AA Change: R97L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: R97L

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (82/83)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik G T 13: 59,690,810 (GRCm38) D69E possibly damaging Het
Abat A C 16: 8,602,367 (GRCm38) M177L probably benign Het
Acadvl A G 11: 70,014,791 (GRCm38) probably null Het
Adam5 T C 8: 24,806,438 (GRCm38) N331S probably benign Het
Ager A G 17: 34,600,736 (GRCm38) E372G probably damaging Het
Angpt1 T A 15: 42,523,595 (GRCm38) Q121L possibly damaging Het
Apoa4 A T 9: 46,242,880 (GRCm38) I260F possibly damaging Het
Arhgap32 A T 9: 32,245,976 (GRCm38) I90F probably damaging Het
Arhgap5 A T 12: 52,519,639 (GRCm38) Q1131L probably benign Het
Bach1 G A 16: 87,719,291 (GRCm38) R240Q probably benign Het
Cacna2d3 A T 14: 28,969,365 (GRCm38) M1K probably null Het
Ccdc18 G A 5: 108,173,862 (GRCm38) probably null Het
Ccdc42 T C 11: 68,594,616 (GRCm38) F267S probably damaging Het
Cdh23 T A 10: 60,337,306 (GRCm38) Y1700F probably damaging Het
Cenpe A T 3: 135,235,201 (GRCm38) S704C probably damaging Het
Cenpe G A 3: 135,235,202 (GRCm38) S704N probably benign Het
Cfap299 A T 5: 98,784,520 (GRCm38) D193V probably damaging Het
Cfap54 A T 10: 92,875,019 (GRCm38) S2727T unknown Het
Clu T A 14: 65,971,832 (GRCm38) V113D probably damaging Het
Cnbd2 A G 2: 156,320,034 (GRCm38) I98V probably benign Het
Epb41l1 C A 2: 156,534,683 (GRCm38) probably null Het
Etnk1 T A 6: 143,203,154 (GRCm38) probably null Het
Fnip1 A T 11: 54,502,935 (GRCm38) K732N probably damaging Het
G6pd2 A G 5: 61,808,891 (GRCm38) E3G probably benign Het
Gal3st2 A G 1: 93,873,759 (GRCm38) T95A probably benign Het
Gapvd1 A G 2: 34,700,817 (GRCm38) S948P probably damaging Het
Ggps1 A T 13: 14,054,165 (GRCm38) Y8* probably null Het
Gria2 T C 3: 80,706,972 (GRCm38) E587G probably damaging Het
Hpse T C 5: 100,692,279 (GRCm38) E324G probably benign Het
Il16 G A 7: 83,646,388 (GRCm38) T493I probably benign Het
Ints1 T C 5: 139,768,462 (GRCm38) T652A possibly damaging Het
Ism1 A G 2: 139,757,279 (GRCm38) I391V probably damaging Het
Katnb1 A G 8: 95,098,384 (GRCm38) D598G probably damaging Het
Kif5c A G 2: 49,757,429 (GRCm38) S880G probably benign Het
Klra8 T C 6: 130,125,184 (GRCm38) N96S probably benign Het
Krt79 T A 15: 101,931,441 (GRCm38) D373V probably damaging Het
Lamtor4 G A 5: 138,259,112 (GRCm38) R92Q probably benign Het
Lce1d C A 3: 92,686,046 (GRCm38) C20F unknown Het
Limk1 T C 5: 134,672,699 (GRCm38) T117A probably benign Het
Medag A T 5: 149,427,243 (GRCm38) K61M probably benign Het
Mkrn3 T C 7: 62,419,618 (GRCm38) M142V probably benign Het
Mob3c G A 4: 115,831,582 (GRCm38) R104H probably benign Het
Morc1 G T 16: 48,627,070 (GRCm38) R903L possibly damaging Het
Myh6 T C 14: 54,952,292 (GRCm38) E1099G probably damaging Het
Nphp3 T G 9: 104,016,116 (GRCm38) C434G probably null Het
Npr3 C T 15: 11,905,248 (GRCm38) C131Y probably damaging Het
Oacyl C A 18: 65,722,538 (GRCm38) Y112* probably null Het
Oprl1 A G 2: 181,718,381 (GRCm38) T77A probably damaging Het
Osgep A G 14: 50,924,708 (GRCm38) V24A probably damaging Het
Otx2 T A 14: 48,658,797 (GRCm38) K260M probably damaging Het
Pdcd11 T C 19: 47,113,142 (GRCm38) L922P probably benign Het
Pgap4 A T 4: 49,586,325 (GRCm38) M281K probably benign Het
Phldb1 A G 9: 44,694,408 (GRCm38) V375A probably damaging Het
Pip5k1b C T 19: 24,359,935 (GRCm38) probably null Het
Psmd3 G A 11: 98,682,766 (GRCm38) D13N probably benign Het
Ptprc G A 1: 138,064,553 (GRCm38) H1140Y probably damaging Het
Ranbp3l A T 15: 9,062,984 (GRCm38) H291L probably damaging Het
Rasa4 T A 5: 136,101,363 (GRCm38) D324E probably damaging Het
Rilpl1 T A 5: 124,503,692 (GRCm38) silent Het
Rin2 A C 2: 145,883,475 (GRCm38) D794A probably damaging Het
Ripk1 A G 13: 34,030,062 (GRCm38) I522M probably damaging Het
Rnf31 T C 14: 55,592,551 (GRCm38) Y143H probably benign Het
Rp1 T G 1: 4,042,068 (GRCm38) I1187L unknown Het
Rps6ka5 G A 12: 100,619,537 (GRCm38) H166Y probably damaging Het
Rrm1 T C 7: 102,460,334 (GRCm38) V455A probably damaging Het
Runx2 G A 17: 44,814,192 (GRCm38) P80L probably damaging Het
Scn5a T G 9: 119,485,930 (GRCm38) E1904A probably damaging Het
Sec16a G T 2: 26,436,002 (GRCm38) S240* probably null Het
Slc22a8 C T 19: 8,605,417 (GRCm38) T154I probably benign Het
Slc25a16 T A 10: 62,937,454 (GRCm38) V156E possibly damaging Het
Slc28a3 A T 13: 58,610,804 (GRCm38) S2T probably benign Het
Srd5a3 G A 5: 76,149,866 (GRCm38) V48I probably benign Het
Srebf1 A C 11: 60,200,526 (GRCm38) H1025Q probably damaging Het
Stard9 A G 2: 120,697,191 (GRCm38) K1310E probably benign Het
Swt1 A G 1: 151,370,630 (GRCm38) V848A possibly damaging Het
Tanc2 A T 11: 105,840,699 (GRCm38) T434S possibly damaging Het
Tcf20 G A 15: 82,854,682 (GRCm38) T856I probably benign Het
Tcf7l2 T C 19: 55,894,733 (GRCm38) probably null Het
Trim45 A G 3: 100,931,879 (GRCm38) probably benign Het
Tsen2 T A 6: 115,547,972 (GRCm38) M44K possibly damaging Het
Ttc21a T A 9: 119,958,073 (GRCm38) C715* probably null Het
Vmn2r102 G A 17: 19,694,194 (GRCm38) V674I probably damaging Het
Zfp87 A G 13: 67,517,054 (GRCm38) S430P probably damaging Het
Other mutations in Copa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Copa APN 1 172,110,688 (GRCm38) missense possibly damaging 0.87
IGL01360:Copa APN 1 172,087,588 (GRCm38) splice site probably null
IGL01434:Copa APN 1 172,119,561 (GRCm38) missense probably benign 0.00
IGL01744:Copa APN 1 172,113,189 (GRCm38) missense probably benign 0.01
IGL01837:Copa APN 1 172,118,852 (GRCm38) missense probably benign 0.01
IGL01988:Copa APN 1 172,118,264 (GRCm38) missense probably benign 0.09
IGL02059:Copa APN 1 172,099,753 (GRCm38) missense probably damaging 0.96
IGL02123:Copa APN 1 172,112,128 (GRCm38) missense probably damaging 1.00
IGL02731:Copa APN 1 172,102,218 (GRCm38) missense possibly damaging 0.77
IGL03114:Copa APN 1 172,119,268 (GRCm38) nonsense probably null
P0027:Copa UTSW 1 172,111,948 (GRCm38) missense possibly damaging 0.87
PIT4434001:Copa UTSW 1 172,106,175 (GRCm38) missense probably benign 0.00
R0233:Copa UTSW 1 172,087,667 (GRCm38) critical splice donor site probably null
R0465:Copa UTSW 1 172,118,305 (GRCm38) missense probably damaging 1.00
R0547:Copa UTSW 1 172,121,687 (GRCm38) splice site probably benign
R0568:Copa UTSW 1 172,112,137 (GRCm38) missense possibly damaging 0.91
R0628:Copa UTSW 1 172,091,025 (GRCm38) splice site probably benign
R1328:Copa UTSW 1 172,121,691 (GRCm38) splice site probably benign
R1494:Copa UTSW 1 172,104,127 (GRCm38) missense probably benign 0.27
R1728:Copa UTSW 1 172,111,987 (GRCm38) missense probably benign
R1758:Copa UTSW 1 172,104,144 (GRCm38) missense probably damaging 1.00
R1784:Copa UTSW 1 172,111,987 (GRCm38) missense probably benign
R1942:Copa UTSW 1 172,111,888 (GRCm38) missense probably damaging 1.00
R2054:Copa UTSW 1 172,118,957 (GRCm38) nonsense probably null
R2299:Copa UTSW 1 172,121,725 (GRCm38) missense probably benign 0.10
R2518:Copa UTSW 1 172,119,901 (GRCm38) missense probably benign
R2680:Copa UTSW 1 172,121,404 (GRCm38) nonsense probably null
R3080:Copa UTSW 1 172,113,149 (GRCm38) missense probably damaging 1.00
R3160:Copa UTSW 1 172,091,233 (GRCm38) missense probably damaging 1.00
R3161:Copa UTSW 1 172,091,233 (GRCm38) missense probably damaging 1.00
R3162:Copa UTSW 1 172,091,233 (GRCm38) missense probably damaging 1.00
R3162:Copa UTSW 1 172,091,233 (GRCm38) missense probably damaging 1.00
R3973:Copa UTSW 1 172,121,245 (GRCm38) missense probably benign 0.00
R3975:Copa UTSW 1 172,121,245 (GRCm38) missense probably benign 0.00
R4031:Copa UTSW 1 172,108,375 (GRCm38) missense probably damaging 1.00
R4155:Copa UTSW 1 172,101,425 (GRCm38) missense probably damaging 1.00
R4227:Copa UTSW 1 172,118,115 (GRCm38) intron probably benign
R4244:Copa UTSW 1 172,110,718 (GRCm38) missense probably benign 0.00
R4254:Copa UTSW 1 172,102,244 (GRCm38) missense probably damaging 1.00
R4291:Copa UTSW 1 172,092,397 (GRCm38) intron probably benign
R4323:Copa UTSW 1 172,119,264 (GRCm38) missense probably damaging 1.00
R4402:Copa UTSW 1 172,102,224 (GRCm38) missense probably damaging 1.00
R4711:Copa UTSW 1 172,119,988 (GRCm38) missense probably damaging 1.00
R4721:Copa UTSW 1 172,104,274 (GRCm38) splice site probably benign
R4773:Copa UTSW 1 172,105,220 (GRCm38) missense probably damaging 1.00
R4794:Copa UTSW 1 172,119,321 (GRCm38) missense probably damaging 1.00
R4887:Copa UTSW 1 172,092,276 (GRCm38) missense probably benign 0.39
R4953:Copa UTSW 1 172,082,886 (GRCm38) unclassified probably benign
R5139:Copa UTSW 1 172,121,329 (GRCm38) missense probably damaging 0.99
R5152:Copa UTSW 1 172,118,061 (GRCm38) missense probably benign 0.34
R5297:Copa UTSW 1 172,113,108 (GRCm38) missense probably damaging 1.00
R5586:Copa UTSW 1 172,105,222 (GRCm38) missense probably damaging 1.00
R5698:Copa UTSW 1 172,118,944 (GRCm38) nonsense probably null
R6283:Copa UTSW 1 172,118,848 (GRCm38) missense possibly damaging 0.79
R6921:Copa UTSW 1 172,111,924 (GRCm38) missense possibly damaging 0.63
R6934:Copa UTSW 1 172,110,686 (GRCm38) missense possibly damaging 0.64
R7194:Copa UTSW 1 172,119,944 (GRCm38) missense probably damaging 0.99
R7348:Copa UTSW 1 172,102,223 (GRCm38) missense possibly damaging 0.96
R7710:Copa UTSW 1 172,109,844 (GRCm38) missense possibly damaging 0.50
R7745:Copa UTSW 1 172,111,942 (GRCm38) missense probably damaging 1.00
R7893:Copa UTSW 1 172,119,565 (GRCm38) nonsense probably null
R8168:Copa UTSW 1 172,099,672 (GRCm38) missense probably damaging 1.00
R8273:Copa UTSW 1 172,118,979 (GRCm38) critical splice donor site probably null
R8704:Copa UTSW 1 172,104,126 (GRCm38) missense probably benign 0.01
R8754:Copa UTSW 1 172,108,359 (GRCm38) missense probably damaging 1.00
R8757:Copa UTSW 1 172,119,514 (GRCm38) missense probably benign 0.04
R8759:Copa UTSW 1 172,119,514 (GRCm38) missense probably benign 0.04
R8885:Copa UTSW 1 172,097,745 (GRCm38) missense probably damaging 1.00
R8891:Copa UTSW 1 172,119,251 (GRCm38) missense probably damaging 1.00
R8927:Copa UTSW 1 172,104,170 (GRCm38) missense probably null 0.03
R8928:Copa UTSW 1 172,104,170 (GRCm38) missense probably null 0.03
R8956:Copa UTSW 1 172,109,913 (GRCm38) missense possibly damaging 0.65
R9063:Copa UTSW 1 172,116,962 (GRCm38) missense probably benign 0.00
R9295:Copa UTSW 1 172,112,256 (GRCm38) missense probably damaging 0.99
R9364:Copa UTSW 1 172,117,264 (GRCm38) missense probably benign 0.00
R9437:Copa UTSW 1 172,104,145 (GRCm38) missense possibly damaging 0.93
R9673:Copa UTSW 1 172,118,081 (GRCm38) missense probably benign 0.11
T0722:Copa UTSW 1 172,111,948 (GRCm38) missense possibly damaging 0.87
Z1177:Copa UTSW 1 172,106,123 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GGAGGCAGTTCTGTGAAGACTC -3'
(R):5'- TGAGGCGCTCAGAATCCAAG -3'

Sequencing Primer
(F):5'- AATTCTTAGCGCTCAGGACG -3'
(R):5'- GGCGCTCAGAATCCAAGGATATTC -3'
Posted On 2019-05-13