Incidental Mutation 'IGL00093:Copb2'
ID 1286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Copb2
Ensembl Gene ENSMUSG00000032458
Gene Name COPI coat complex subunit beta 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00093
Quality Score
Status
Chromosome 9
Chromosomal Location 98445784-98470428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98450130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 30 (M30V)
Ref Sequence ENSEMBL: ENSMUSP00000035033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035033]
AlphaFold O55029
Predicted Effect probably benign
Transcript: ENSMUST00000035033
AA Change: M30V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: M30V

DomainStartEndE-ValueType
WD40 4 43 1.18e-1 SMART
WD40 46 85 3.9e-2 SMART
WD40 88 127 4.05e-9 SMART
WD40 131 171 1.51e-8 SMART
WD40 174 215 7.97e-8 SMART
WD40 218 257 5.9e-11 SMART
Pfam:Coatomer_WDAD 319 763 3.2e-176 PFAM
low complexity region 876 892 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000058992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194714
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for a null mutation display early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,472,310 (GRCm39) D60G probably damaging Het
Abca2 T A 2: 25,335,975 (GRCm39) probably null Het
Adamts14 C T 10: 61,065,455 (GRCm39) R348H probably damaging Het
Aimp2 A T 5: 143,843,524 (GRCm39) I22N probably damaging Het
Cacna1c A G 6: 118,653,405 (GRCm39) probably benign Het
Cfap221 A T 1: 119,860,575 (GRCm39) Y684N possibly damaging Het
Cfap300 A G 9: 8,022,433 (GRCm39) V263A probably benign Het
Cldn6 T A 17: 23,900,698 (GRCm39) probably benign Het
Dcaf17 G A 2: 70,908,503 (GRCm39) E243K probably benign Het
Dhx35 T C 2: 158,669,836 (GRCm39) Y257H probably damaging Het
Dnai3 C T 3: 145,788,759 (GRCm39) G274E probably benign Het
Dzank1 A T 2: 144,323,645 (GRCm39) Y600* probably null Het
Flvcr1 T A 1: 190,747,686 (GRCm39) R201* probably null Het
Fstl4 G A 11: 53,077,102 (GRCm39) V620I probably benign Het
Gm21976 G A 13: 98,439,069 (GRCm39) V20M probably benign Het
Ifi208 T C 1: 173,506,604 (GRCm39) probably null Het
Kdm4c T C 4: 74,263,738 (GRCm39) V674A probably benign Het
Lig1 T A 7: 13,035,378 (GRCm39) Y612* probably null Het
Marco A G 1: 120,413,432 (GRCm39) V295A probably benign Het
Myo5c T C 9: 75,150,162 (GRCm39) probably benign Het
Or1e34 A G 11: 73,779,075 (GRCm39) L41P probably damaging Het
Or51a42 T C 7: 103,708,623 (GRCm39) Y62C probably damaging Het
Or6c217 T A 10: 129,738,528 (GRCm39) D17V possibly damaging Het
Pkd1l1 A G 11: 8,911,971 (GRCm39) M245T unknown Het
Pomt1 A G 2: 32,131,784 (GRCm39) I158V probably benign Het
Ptpn21 A G 12: 98,646,727 (GRCm39) W967R probably damaging Het
Rrp12 A T 19: 41,875,533 (GRCm39) M270K possibly damaging Het
Spats2 A G 15: 99,078,474 (GRCm39) E179G possibly damaging Het
Tapbp T C 17: 34,138,866 (GRCm39) V11A probably benign Het
Tasor T G 14: 27,170,163 (GRCm39) L364R probably damaging Het
Tonsl A G 15: 76,522,696 (GRCm39) F185S possibly damaging Het
Trpm1 A G 7: 63,893,198 (GRCm39) I901V probably damaging Het
Tulp2 A G 7: 45,171,332 (GRCm39) N371S probably damaging Het
Unc5d A T 8: 29,209,854 (GRCm39) V433D probably damaging Het
Wasf3 G A 5: 146,392,461 (GRCm39) R177Q probably damaging Het
Zfp715 A T 7: 42,949,173 (GRCm39) H262Q possibly damaging Het
Zftraf1 A G 15: 76,530,738 (GRCm39) I194T probably damaging Het
Other mutations in Copb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Copb2 APN 9 98,452,371 (GRCm39) missense probably benign 0.00
IGL00518:Copb2 APN 9 98,464,947 (GRCm39) missense possibly damaging 0.95
IGL00642:Copb2 APN 9 98,461,086 (GRCm39) missense probably damaging 1.00
IGL00793:Copb2 APN 9 98,467,057 (GRCm39) missense probably benign
IGL00806:Copb2 APN 9 98,452,717 (GRCm39) missense probably damaging 0.97
IGL01599:Copb2 APN 9 98,463,203 (GRCm39) missense probably damaging 0.98
IGL01906:Copb2 APN 9 98,462,383 (GRCm39) missense probably benign 0.10
IGL02129:Copb2 APN 9 98,467,976 (GRCm39) unclassified probably benign
IGL02138:Copb2 APN 9 98,469,605 (GRCm39) missense probably benign
IGL03033:Copb2 APN 9 98,452,426 (GRCm39) missense probably benign 0.10
R0646:Copb2 UTSW 9 98,445,528 (GRCm39) unclassified probably benign
R0709:Copb2 UTSW 9 98,445,220 (GRCm39) unclassified probably benign
R1631:Copb2 UTSW 9 98,462,213 (GRCm39) missense probably benign 0.00
R2510:Copb2 UTSW 9 98,453,701 (GRCm39) splice site probably benign
R4862:Copb2 UTSW 9 98,463,320 (GRCm39) missense probably damaging 1.00
R5322:Copb2 UTSW 9 98,468,029 (GRCm39) missense probably benign 0.03
R5593:Copb2 UTSW 9 98,469,091 (GRCm39) critical splice acceptor site probably null
R5745:Copb2 UTSW 9 98,456,164 (GRCm39) missense probably damaging 0.99
R5859:Copb2 UTSW 9 98,450,161 (GRCm39) missense probably benign 0.17
R5990:Copb2 UTSW 9 98,452,378 (GRCm39) missense probably damaging 1.00
R7109:Copb2 UTSW 9 98,463,333 (GRCm39) critical splice donor site probably null
R7124:Copb2 UTSW 9 98,459,106 (GRCm39) missense probably damaging 0.98
R7211:Copb2 UTSW 9 98,456,198 (GRCm39) missense probably damaging 1.00
R7829:Copb2 UTSW 9 98,470,147 (GRCm39) missense probably damaging 0.99
R7960:Copb2 UTSW 9 98,462,407 (GRCm39) missense possibly damaging 0.65
R8311:Copb2 UTSW 9 98,450,072 (GRCm39) missense possibly damaging 0.78
R8537:Copb2 UTSW 9 98,469,672 (GRCm39) missense probably null 0.00
R8982:Copb2 UTSW 9 98,456,164 (GRCm39) missense probably damaging 0.99
R9539:Copb2 UTSW 9 98,467,983 (GRCm39) critical splice acceptor site probably null
R9762:Copb2 UTSW 9 98,464,901 (GRCm39) missense probably benign 0.38
R9800:Copb2 UTSW 9 98,461,081 (GRCm39) missense probably damaging 0.99
Z1176:Copb2 UTSW 9 98,468,199 (GRCm39) missense probably benign 0.16
Posted On 2011-07-12