Incidental Mutation 'R7293:Copb1'
ID 566553
Institutional Source Beutler Lab
Gene Symbol Copb1
Ensembl Gene ENSMUSG00000030754
Gene Name coatomer protein complex, subunit beta 1
Synonyms 2610019B04Rik, Copb1
MMRRC Submission 045398-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R7293 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 113814794-113853915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113818837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 827 (M827K)
Ref Sequence ENSEMBL: ENSMUSP00000033012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033012]
AlphaFold Q9JIF7
Predicted Effect probably damaging
Transcript: ENSMUST00000033012
AA Change: M827K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: M827K

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 0.8974 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,795,492 (GRCm39) G416E probably damaging Het
Acsl5 G T 19: 55,279,642 (GRCm39) W460L probably damaging Het
Adam2 A G 14: 66,272,634 (GRCm39) F614S probably benign Het
Adamts5 G A 16: 85,696,833 (GRCm39) T108I probably benign Het
Agmat C T 4: 141,483,246 (GRCm39) Q227* probably null Het
Alg11 A G 8: 22,555,395 (GRCm39) N219D probably damaging Het
Amhr2 A G 15: 102,355,828 (GRCm39) T258A probably benign Het
Ankrd53 A G 6: 83,740,178 (GRCm39) E82G probably null Het
Blzf1 T A 1: 164,123,452 (GRCm39) T292S possibly damaging Het
Capza1 T C 3: 104,748,151 (GRCm39) D71G probably benign Het
Cc2d1b T C 4: 108,488,873 (GRCm39) F770L probably benign Het
Cckbr A T 7: 105,083,852 (GRCm39) Q260L probably benign Het
Cep162 T C 9: 87,085,836 (GRCm39) T1163A probably benign Het
Chd9 T C 8: 91,760,707 (GRCm39) S2151P unknown Het
Clk1 T A 1: 58,453,772 (GRCm39) T301S probably benign Het
Cmya5 T A 13: 93,229,305 (GRCm39) S1928C possibly damaging Het
Col24a1 C T 3: 145,192,059 (GRCm39) Q1273* probably null Het
Col4a4 T C 1: 82,501,664 (GRCm39) D363G unknown Het
Crocc C T 4: 140,770,867 (GRCm39) A351T probably benign Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Csrnp3 A G 2: 65,779,344 (GRCm39) R19G probably damaging Het
Cyb5rl T C 4: 106,938,143 (GRCm39) I165T probably damaging Het
Dnah1 A T 14: 31,009,820 (GRCm39) I1916N probably damaging Het
Dvl1 T C 4: 155,940,625 (GRCm39) M415T possibly damaging Het
Dync2h1 A G 9: 7,001,454 (GRCm39) S3845P possibly damaging Het
Eif3b A G 5: 140,405,183 (GRCm39) Q23R probably benign Het
Esam G T 9: 37,449,020 (GRCm39) R376L probably damaging Het
Fat3 G C 9: 15,826,336 (GRCm39) H391D Het
Fat3 A C 9: 15,826,592 (GRCm39) S305R Het
Fgd3 T C 13: 49,418,134 (GRCm39) D644G probably benign Het
Fgf7 T C 2: 125,877,672 (GRCm39) L13P probably damaging Het
Gas2l1 A G 11: 5,014,338 (GRCm39) Y41H probably damaging Het
Glg1 A T 8: 111,895,375 (GRCm39) I812N probably damaging Het
Glp1r C T 17: 31,143,599 (GRCm39) H212Y probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gpr158 G A 2: 21,581,750 (GRCm39) V410I possibly damaging Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Itgb2l A C 16: 96,227,996 (GRCm39) Y502* probably null Het
Jakmip1 G A 5: 37,284,817 (GRCm39) V635I probably benign Het
Kplce A T 3: 92,776,126 (GRCm39) C186S probably benign Het
Krt23 C T 11: 99,374,682 (GRCm39) M270I probably benign Het
Larp1b C T 3: 40,939,879 (GRCm39) A344V Het
Lin28b T C 10: 45,295,282 (GRCm39) M134V probably benign Het
Lrrc19 T A 4: 94,526,627 (GRCm39) Y310F probably benign Het
Lyst T A 13: 13,854,822 (GRCm39) D2397E probably benign Het
Map6 A G 7: 98,985,740 (GRCm39) N751S possibly damaging Het
Mgrn1 G A 16: 4,750,084 (GRCm39) D494N probably benign Het
Myh6 A G 14: 55,184,631 (GRCm39) F1567L probably benign Het
Myo9b T C 8: 71,778,549 (GRCm39) V461A probably benign Het
Ncan A T 8: 70,567,861 (GRCm39) S84T probably damaging Het
Nlrp9a G A 7: 26,270,694 (GRCm39) C908Y probably damaging Het
Or4c3 A T 2: 89,851,871 (GRCm39) Y180N probably damaging Het
Or4f4b A G 2: 111,313,699 (GRCm39) probably null Het
Or52n20 T A 7: 104,319,925 (GRCm39) N5K probably damaging Het
Or8g31-ps1 A T 9: 39,276,130 (GRCm39) M92L probably benign Het
Parp4 CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC 14: 56,885,303 (GRCm39) probably benign Het
Pld1 C A 3: 28,141,435 (GRCm39) T666K probably damaging Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Pramel7 A C 2: 87,322,706 (GRCm39) N19K probably benign Het
Prh1 C G 6: 132,548,721 (GRCm39) P76R unknown Het
Prkd2 T C 7: 16,579,865 (GRCm39) V121A possibly damaging Het
Ptprq G A 10: 107,471,367 (GRCm39) Q1345* probably null Het
Ryr3 T A 2: 112,732,948 (GRCm39) T653S probably benign Het
Sall2 G T 14: 52,551,868 (GRCm39) Y442* probably null Het
Slc23a2 A C 2: 131,931,026 (GRCm39) F158V probably benign Het
Smg1 C A 7: 117,765,322 (GRCm39) R1954L unknown Het
Snx31 G A 15: 36,523,596 (GRCm39) T362I probably damaging Het
Taf3 G T 2: 9,956,901 (GRCm39) T422K probably damaging Het
Tcfl5 T C 2: 180,283,958 (GRCm39) D142G probably benign Het
Tmx1 A G 12: 70,507,325 (GRCm39) T188A probably damaging Het
Tnfrsf11a A G 1: 105,735,866 (GRCm39) probably null Het
Trio A T 15: 27,871,375 (GRCm39) C640S possibly damaging Het
Ulk4 T G 9: 121,084,190 (GRCm39) N427T probably damaging Het
Vmn1r202 T C 13: 22,685,872 (GRCm39) M182V probably benign Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V 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
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
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
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'- ACTTTATATGCCCCAGTACAGG -3'
(R):5'- CAATTGATGGCACTATTCAGTTGG -3'

Sequencing Primer
(F):5'- ACTTTTGGGATAGCATTGGAAATG -3'
(R):5'- CACCCTTTGGGGATCTTT -3'
Posted On 2019-06-26