Incidental Mutation 'R6114:Copb1'
ID 485021
Institutional Source Beutler Lab
Gene Symbol Copb1
Ensembl Gene ENSMUSG00000030754
Gene Name coatomer protein complex, subunit beta 1
Synonyms 2610019B04Rik, Copb1
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 113814794-113853915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113846036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 178 (H178L)
Ref Sequence ENSEMBL: ENSMUSP00000033012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033012]
AlphaFold Q9JIF7
Predicted Effect probably benign
Transcript: ENSMUST00000033012
AA Change: H178L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: H178L

DomainStartEndE-ValueType
Pfam:Adaptin_N 19 539 2.4e-124 PFAM
low complexity region 643 660 N/A INTRINSIC
Pfam:Coatamer_beta_C 667 807 3.6e-63 PFAM
Pfam:Coatomer_b_Cpla 813 944 3.1e-65 PFAM
Meta Mutation Damage Score 0.0841 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably damaging Het
Other mutations in Copb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01802:Copb1 APN 7 113,826,011 (GRCm39) missense probably benign 0.00
IGL02458:Copb1 APN 7 113,846,020 (GRCm39) missense probably benign 0.00
IGL02549:Copb1 APN 7 113,846,032 (GRCm39) missense probably benign 0.00
IGL02639:Copb1 APN 7 113,825,830 (GRCm39) splice site probably benign
robbers UTSW 7 113,848,211 (GRCm39) missense probably damaging 1.00
R0012:Copb1 UTSW 7 113,836,643 (GRCm39) missense probably damaging 0.99
R0012:Copb1 UTSW 7 113,836,643 (GRCm39) missense probably damaging 0.99
R0023:Copb1 UTSW 7 113,849,329 (GRCm39) missense probably benign 0.26
R0631:Copb1 UTSW 7 113,832,517 (GRCm39) missense probably benign 0.12
R1996:Copb1 UTSW 7 113,831,438 (GRCm39) missense probably benign 0.00
R2256:Copb1 UTSW 7 113,853,110 (GRCm39) missense possibly damaging 0.89
R2257:Copb1 UTSW 7 113,853,110 (GRCm39) missense possibly damaging 0.89
R3853:Copb1 UTSW 7 113,822,551 (GRCm39) missense probably damaging 1.00
R4679:Copb1 UTSW 7 113,848,211 (GRCm39) missense probably damaging 1.00
R4686:Copb1 UTSW 7 113,820,971 (GRCm39) missense possibly damaging 0.94
R5057:Copb1 UTSW 7 113,825,997 (GRCm39) missense probably benign
R5140:Copb1 UTSW 7 113,846,035 (GRCm39) missense probably benign 0.01
R5669:Copb1 UTSW 7 113,836,820 (GRCm39) missense probably damaging 1.00
R5779:Copb1 UTSW 7 113,818,807 (GRCm39) missense probably damaging 1.00
R6017:Copb1 UTSW 7 113,836,032 (GRCm39) missense probably benign 0.07
R6403:Copb1 UTSW 7 113,837,686 (GRCm39) missense probably damaging 1.00
R6826:Copb1 UTSW 7 113,825,954 (GRCm39) missense probably benign 0.00
R6905:Copb1 UTSW 7 113,853,125 (GRCm39) missense probably benign 0.00
R7241:Copb1 UTSW 7 113,836,591 (GRCm39) missense probably damaging 0.96
R7293:Copb1 UTSW 7 113,818,837 (GRCm39) missense probably damaging 1.00
R7485:Copb1 UTSW 7 113,844,720 (GRCm39) missense possibly damaging 0.94
R8103:Copb1 UTSW 7 113,834,202 (GRCm39) missense possibly damaging 0.67
R8427:Copb1 UTSW 7 113,825,989 (GRCm39) missense probably benign 0.03
R8690:Copb1 UTSW 7 113,849,463 (GRCm39) missense probably benign 0.02
R8843:Copb1 UTSW 7 113,820,935 (GRCm39) missense possibly damaging 0.81
R9405:Copb1 UTSW 7 113,822,458 (GRCm39) missense possibly damaging 0.78
R9425:Copb1 UTSW 7 113,848,182 (GRCm39) missense probably damaging 1.00
R9513:Copb1 UTSW 7 113,831,432 (GRCm39) missense probably benign 0.00
R9563:Copb1 UTSW 7 113,836,034 (GRCm39) missense possibly damaging 0.73
R9564:Copb1 UTSW 7 113,836,034 (GRCm39) missense possibly damaging 0.73
R9566:Copb1 UTSW 7 113,825,997 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACATGCTGTCTGCTGAGGTG -3'
(R):5'- CAGACTGTTCCCTCAATACTTCTTAAG -3'

Sequencing Primer
(F):5'- CTTTTACCCTAGCACGTGGGAAG -3'
(R):5'- AGGAAAGTGGGCATTTACT -3'
Posted On 2017-08-16