Incidental Mutation 'R7074:Cope'
ID 549103
Institutional Source Beutler Lab
Gene Symbol Cope
Ensembl Gene ENSMUSG00000055681
Gene Name coatomer protein complex, subunit epsilon
Synonyms 1110005D17Rik, Cope1
MMRRC Submission 045242-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7074 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 70755417-70765652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70765537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 303 (Q303R)
Ref Sequence ENSEMBL: ENSMUSP00000071078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066469] [ENSMUST00000128003] [ENSMUST00000140239] [ENSMUST00000150968] [ENSMUST00000165819] [ENSMUST00000168018]
AlphaFold O89079
Predicted Effect probably benign
Transcript: ENSMUST00000066469
AA Change: Q303R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071078
Gene: ENSMUSG00000055681
AA Change: Q303R

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Coatomer_E 15 305 2.8e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128003
SMART Domains Protein: ENSMUSP00000122888
Gene: ENSMUSG00000055681

DomainStartEndE-ValueType
Pfam:Coatomer_E 1 212 5.4e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140239
SMART Domains Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408

DomainStartEndE-ValueType
low complexity region 49 68 N/A INTRINSIC
TLC 97 311 1.24e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150968
SMART Domains Protein: ENSMUSP00000119055
Gene: ENSMUSG00000055681

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Coatomer_E 15 227 6.5e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165819
SMART Domains Protein: ENSMUSP00000128325
Gene: ENSMUSG00000087408

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:TGFb_propeptide 33 169 7e-16 PFAM
low complexity region 225 237 N/A INTRINSIC
TGFB 251 357 6.22e-56 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000132976
Gene: ENSMUSG00000055681
AA Change: Q110R

DomainStartEndE-ValueType
Pfam:Coatomer_E 1 79 5.4e-38 PFAM
Pfam:Coatomer_E 75 113 3.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168018
SMART Domains Protein: ENSMUSP00000130416
Gene: ENSMUSG00000055681

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Coatomer_E 15 79 4.5e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,340,433 (GRCm39) I53L probably benign Het
Acss2 T C 2: 155,363,961 (GRCm39) L80P possibly damaging Het
Adam3 A T 8: 25,184,363 (GRCm39) F546I probably benign Het
Adtrp A T 13: 41,981,617 (GRCm39) probably null Het
Anapc1 G T 2: 128,520,194 (GRCm39) P208T probably damaging Het
Ankrd33 A G 15: 101,017,430 (GRCm39) K281R probably benign Het
Bcl11b A G 12: 107,955,766 (GRCm39) S128P probably benign Het
Ccdc57 T C 11: 120,794,200 (GRCm39) K265E possibly damaging Het
Cep72 A G 13: 74,199,699 (GRCm39) C244R probably benign Het
Cpd T A 11: 76,704,420 (GRCm39) N398I probably damaging Het
Cplx1 C T 5: 108,696,393 (GRCm39) probably null Het
Dixdc1 T A 9: 50,601,214 (GRCm39) E344D possibly damaging Het
Dock7 A T 4: 98,833,445 (GRCm39) F1951I unknown Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Faap24 A T 7: 35,094,527 (GRCm39) I91K possibly damaging Het
Fubp3 T C 2: 31,485,306 (GRCm39) S107P probably damaging Het
Gas2l2 T A 11: 83,313,893 (GRCm39) Q473L probably benign Het
Ghr A T 15: 3,362,873 (GRCm39) Y200N probably damaging Het
Gm4950 G A 18: 51,998,521 (GRCm39) Q145* probably null Het
Gm826 C T 2: 160,153,810 (GRCm39) V78I unknown Het
Gnas G A 2: 174,126,842 (GRCm39) E126K probably damaging Het
Grip2 A T 6: 91,761,689 (GRCm39) V235E probably benign Het
Hmgcl A G 4: 135,681,178 (GRCm39) H88R probably benign Het
Htr7 A G 19: 36,034,283 (GRCm39) V124A probably damaging Het
Igf2r T A 17: 12,933,003 (GRCm39) I840F possibly damaging Het
Ints8 T C 4: 11,204,574 (GRCm39) I961V possibly damaging Het
Jmy A T 13: 93,590,439 (GRCm39) S555T probably benign Het
Klk1b27 G A 7: 43,705,977 (GRCm39) G227S probably damaging Het
Lao1 A C 4: 118,825,382 (GRCm39) T401P probably damaging Het
Lrwd1 C T 5: 136,152,511 (GRCm39) V547I probably benign Het
Mttp C A 3: 137,813,034 (GRCm39) R532L possibly damaging Het
Muc16 T C 9: 18,566,946 (GRCm39) T1858A unknown Het
Myo18a T A 11: 77,733,387 (GRCm39) D1409E probably benign Het
Ncor2 T A 5: 125,126,430 (GRCm39) R554* probably null Het
Or14j6 T A 17: 38,214,718 (GRCm39) Y94N possibly damaging Het
Or1e1b-ps1 A T 11: 73,845,975 (GRCm39) H153L probably benign Het
Or2b11 T C 11: 59,461,835 (GRCm39) T244A probably damaging Het
Or2l13b T A 16: 19,348,855 (GRCm39) I272F possibly damaging Het
Or52b1 A G 7: 104,978,475 (GRCm39) M308T probably benign Het
Prkar2b A G 12: 32,022,147 (GRCm39) Y213H probably damaging Het
Prkd3 T A 17: 79,282,236 (GRCm39) K306* probably null Het
Psd2 A G 18: 36,143,737 (GRCm39) E681G probably benign Het
Sel1l2 T A 2: 140,105,362 (GRCm39) N276I probably damaging Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Smyd1 A G 6: 71,214,359 (GRCm39) V214A probably damaging Het
Spag5 T C 11: 78,195,868 (GRCm39) probably null Het
Trem3 C T 17: 48,556,909 (GRCm39) R127W probably damaging Het
Ttn G A 2: 76,748,425 (GRCm39) T4208I probably benign Het
Tubgcp6 A G 15: 89,004,839 (GRCm39) F260S probably damaging Het
Vmn1r51 A T 6: 90,106,654 (GRCm39) D190V probably benign Het
Zc3h14 A G 12: 98,724,859 (GRCm39) I174V possibly damaging Het
Zfp423 G A 8: 88,509,060 (GRCm39) T428I probably benign Het
Zfp608 T A 18: 55,030,454 (GRCm39) N1162I possibly damaging Het
Zmym5 T C 14: 57,042,255 (GRCm39) M8V probably benign Het
Other mutations in Cope
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02696:Cope APN 8 70,763,143 (GRCm39) critical splice donor site probably null
PIT4431001:Cope UTSW 8 70,765,417 (GRCm39) missense probably damaging 0.99
R0570:Cope UTSW 8 70,759,181 (GRCm39) missense probably damaging 0.96
R1382:Cope UTSW 8 70,765,513 (GRCm39) missense probably benign 0.00
R1518:Cope UTSW 8 70,765,411 (GRCm39) missense possibly damaging 0.72
R4538:Cope UTSW 8 70,759,157 (GRCm39) missense probably damaging 1.00
R4941:Cope UTSW 8 70,755,584 (GRCm39) critical splice donor site probably null
R5106:Cope UTSW 8 70,763,097 (GRCm39) missense possibly damaging 0.57
R5454:Cope UTSW 8 70,757,306 (GRCm39) missense probably benign 0.17
R5764:Cope UTSW 8 70,759,231 (GRCm39) missense probably damaging 1.00
R5979:Cope UTSW 8 70,755,193 (GRCm39) splice site probably null
R6003:Cope UTSW 8 70,757,285 (GRCm39) missense probably benign 0.01
R6010:Cope UTSW 8 70,761,162 (GRCm39) missense probably damaging 1.00
R8022:Cope UTSW 8 70,765,453 (GRCm39) missense probably benign 0.01
R9309:Cope UTSW 8 70,755,482 (GRCm39) missense unknown
R9326:Cope UTSW 8 70,755,516 (GRCm39) missense possibly damaging 0.59
R9341:Cope UTSW 8 70,761,228 (GRCm39) critical splice donor site probably null
R9343:Cope UTSW 8 70,761,228 (GRCm39) critical splice donor site probably null
R9501:Cope UTSW 8 70,765,363 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCACTCTCTTCAGGTGACAAAC -3'
(R):5'- CTTAGAGTGCAGGACTGGTG -3'

Sequencing Primer
(F):5'- CCGATACTTGTCACAGCTGAAGG -3'
(R):5'- CAGGACTGGTGGTGTACAG -3'
Posted On 2019-05-15