Incidental Mutation 'R5779:Copb1'
ID 446876
Institutional Source Beutler Lab
Gene Symbol Copb1
Ensembl Gene ENSMUSG00000030754
Gene Name coatomer protein complex, subunit beta 1
Synonyms 2610019B04Rik, Copb1
MMRRC Submission 043377-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R5779 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 113814794-113853915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113818807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 837 (D837V)
Ref Sequence ENSEMBL: ENSMUSP00000033012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033012]
AlphaFold Q9JIF7
Predicted Effect probably damaging
Transcript: ENSMUST00000033012
AA Change: D837V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: D837V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209394
Meta Mutation Damage Score 0.9390 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,075,496 (GRCm39) M1332V probably benign Het
Acsbg3 A T 17: 57,188,061 (GRCm39) N190Y probably benign Het
Afg3l2 T C 18: 67,573,513 (GRCm39) K132R probably null Het
Antkmt A G 17: 26,009,631 (GRCm39) V194A probably benign Het
Arap3 T C 18: 38,117,418 (GRCm39) D886G probably damaging Het
B3gntl1 G T 11: 121,542,502 (GRCm39) probably null Het
Cdk12 T A 11: 98,109,900 (GRCm39) S640R probably benign Het
Ceacam12 C A 7: 17,803,079 (GRCm39) P162T probably benign Het
Chrna5 C A 9: 54,905,388 (GRCm39) H67N probably benign Het
Dcaf5 C T 12: 80,385,606 (GRCm39) R840H probably benign Het
Ect2l T A 10: 18,039,186 (GRCm39) Q324L probably benign Het
Eef1e1 T C 13: 38,830,249 (GRCm39) N141S probably damaging Het
Eif2ak4 A C 2: 118,243,444 (GRCm39) N208T possibly damaging Het
Ext1 A G 15: 53,207,949 (GRCm39) Y271H probably damaging Het
Fbxo5 G A 10: 5,750,303 (GRCm39) R323C possibly damaging Het
Fpr-rs3 C A 17: 20,844,488 (GRCm39) A218S possibly damaging Het
Gm20499 G A 5: 114,955,082 (GRCm39) probably benign Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Gucy1b2 C A 14: 62,651,750 (GRCm39) L400F possibly damaging Het
Hgd T A 16: 37,413,733 (GRCm39) L24H probably benign Het
Hmx3 C A 7: 131,146,057 (GRCm39) S255* probably null Het
Ifrd1 A T 12: 40,253,369 (GRCm39) F448I probably damaging Het
Igfn1 T A 1: 135,894,578 (GRCm39) E1996V probably benign Het
Itpr1 G A 6: 108,329,104 (GRCm39) G173R probably damaging Het
Kbtbd8 T C 6: 95,095,515 (GRCm39) S26P probably benign Het
Kctd17 A T 15: 78,321,333 (GRCm39) probably benign Het
Matr3 T C 18: 35,717,575 (GRCm39) S258P possibly damaging Het
Mpp4 G A 1: 59,190,825 (GRCm39) A90V probably benign Het
Mrpl20 G A 4: 155,891,378 (GRCm39) R34Q probably damaging Het
Neb A T 2: 52,135,313 (GRCm39) S3266T probably damaging Het
Nipal3 A G 4: 135,179,650 (GRCm39) probably benign Het
Npas2 A T 1: 39,326,652 (GRCm39) T46S possibly damaging Het
Nsd3 G T 8: 26,172,685 (GRCm39) E815* probably null Het
Nup98 C A 7: 101,801,568 (GRCm39) V786L probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Pcdhb3 T C 18: 37,434,520 (GRCm39) V162A probably benign Het
Pcgf2 G A 11: 97,581,117 (GRCm39) P58L probably damaging Het
Penk A G 4: 4,134,318 (GRCm39) F110L probably damaging Het
Relch T G 1: 105,615,072 (GRCm39) N246K probably damaging Het
Scfd1 A G 12: 51,478,312 (GRCm39) N508S probably benign Het
Scn2a T C 2: 65,594,827 (GRCm39) V1892A probably benign Het
Sema6a G A 18: 47,381,893 (GRCm39) R885C probably damaging Het
Sik2 T C 9: 50,807,145 (GRCm39) H755R probably benign Het
Slc36a3 A T 11: 55,026,094 (GRCm39) Y241* probably null Het
Smg5 T C 3: 88,258,925 (GRCm39) probably benign Het
Spag9 A G 11: 94,005,079 (GRCm39) T1049A probably benign Het
Tas2r103 T C 6: 133,013,908 (GRCm39) M53V probably benign Het
Tpr C T 1: 150,299,292 (GRCm39) A1090V probably damaging Het
Traf5 T A 1: 191,729,633 (GRCm39) R473W probably damaging Het
Ush2a T C 1: 188,175,707 (GRCm39) probably null Het
Vit A G 17: 78,853,855 (GRCm39) T34A probably benign 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
R6017:Copb1 UTSW 7 113,836,032 (GRCm39) missense probably benign 0.07
R6114:Copb1 UTSW 7 113,846,036 (GRCm39) missense probably benign 0.00
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'- CTTGCAAACTTTATATGCCCCAG -3'
(R):5'- ACAATTGATGGCACTATTCAGTTGG -3'

Sequencing Primer
(F):5'- ACTTTATATGCCCCAGTACAGG -3'
(R):5'- CACCCTTTGGGGATCTTT -3'
Posted On 2016-12-15