Incidental Mutation 'R4323:Copa'
ID 323896
Institutional Source Beutler Lab
Gene Symbol Copa
Ensembl Gene ENSMUSG00000026553
Gene Name coatomer protein complex subunit alpha
Synonyms xenin
MMRRC Submission 041094-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4323 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171910096-171949897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 171946831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 1022 (C1022F)
Ref Sequence ENSEMBL: ENSMUSP00000027833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027833] [ENSMUST00000135192]
AlphaFold Q8CIE6
Predicted Effect probably damaging
Transcript: ENSMUST00000027833
AA Change: C1022F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: C1022F

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 noncoding transcript
Transcript: ENSMUST00000133909
Predicted Effect possibly damaging
Transcript: ENSMUST00000135192
AA Change: C1013F

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: C1013F

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: ENSMUST00000142765
Meta Mutation Damage Score 0.7069 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 95% (59/62)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,548 (GRCm39) Y414C probably damaging Het
Akr1b1 T C 6: 34,287,862 (GRCm39) T166A probably benign Het
Ankhd1 C T 18: 36,711,686 (GRCm39) S94L probably damaging Het
B4galt3 G T 1: 171,103,515 (GRCm39) M68I possibly damaging Het
Bpnt1 A C 1: 185,088,786 (GRCm39) H312P probably benign Het
Ccdc178 T A 18: 22,166,600 (GRCm39) K530* probably null Het
Ccdc191 A G 16: 43,767,872 (GRCm39) E624G probably damaging Het
Clasp2 T C 9: 113,719,027 (GRCm39) V724A possibly damaging Het
Cwf19l2 T G 9: 3,430,452 (GRCm39) F261L probably damaging Het
Esr1 G A 10: 4,951,307 (GRCm39) V562M possibly damaging Het
Fap T C 2: 62,333,716 (GRCm39) H643R probably damaging Het
Fbxo38 T A 18: 62,648,232 (GRCm39) M769L probably benign Het
Fgfr1 A G 8: 26,063,915 (GRCm39) N814S probably benign Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Hspa1l T A 17: 35,196,832 (GRCm39) Y290* probably null Het
Itsn1 G A 16: 91,615,440 (GRCm39) probably benign Het
Jam2 T C 16: 84,619,744 (GRCm39) probably benign Het
Kprp G A 3: 92,732,163 (GRCm39) R296W probably damaging Het
Med23 T C 10: 24,746,603 (GRCm39) I14T probably benign Het
Mitf A G 6: 97,968,910 (GRCm39) Y10C probably benign Het
Mpo T C 11: 87,686,865 (GRCm39) S165P probably damaging Het
Neb T G 2: 52,154,122 (GRCm39) M2330L possibly damaging Het
Nup214 T C 2: 31,884,696 (GRCm39) S486P probably benign Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Parp6 G A 9: 59,537,969 (GRCm39) V205I possibly damaging Het
Pate2 A T 9: 35,581,767 (GRCm39) probably benign Het
Pdss1 T C 2: 22,802,608 (GRCm39) probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin1 G A 7: 126,816,200 (GRCm39) P77S probably damaging Het
Slitrk3 A G 3: 72,958,118 (GRCm39) L218P probably damaging Het
Sltm T C 9: 70,487,529 (GRCm39) I521T probably benign Het
Smchd1 A G 17: 71,735,270 (GRCm39) I618T probably benign Het
Sox6 A G 7: 115,179,798 (GRCm39) probably null Het
Sp8 A G 12: 118,812,171 (GRCm39) I9V probably benign Het
Usp9y T A Y: 1,434,407 (GRCm39) M352L possibly damaging Het
Vmn1r46 T C 6: 89,953,349 (GRCm39) M66T probably benign Het
Vmn2r111 A T 17: 22,792,159 (GRCm39) N32K probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Vps13d T A 4: 144,879,348 (GRCm39) T1486S probably benign Het
Wdr55 A G 18: 36,896,153 (GRCm39) N281S probably benign Het
Zswim6 G A 13: 108,025,938 (GRCm39) noncoding transcript 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
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
Predicted Primers PCR Primer
(F):5'- TCCAGTTATTCCCACAGTAGTG -3'
(R):5'- CGGCAAATGGTGATGAGCTG -3'

Sequencing Primer
(F):5'- CACAGTAGTGGGTTGGTGAC -3'
(R):5'- TTGCAGAGGACAGTCACGAC -3'
Posted On 2015-06-24