Incidental Mutation 'IGL00793:Copb2'
ID 12544
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 # IGL00793
Quality Score
Status
Chromosome 9
Chromosomal Location 98445784-98470428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98467057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 636 (T636A)
Ref Sequence ENSEMBL: ENSMUSP00000035033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035033] [ENSMUST00000035034]
AlphaFold O55029
Predicted Effect probably benign
Transcript: ENSMUST00000035033
AA Change: T636A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: T636A

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 probably benign
Transcript: ENSMUST00000035034
SMART Domains Protein: ENSMUSP00000035034
Gene: ENSMUSG00000032459

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
low complexity region 54 63 N/A INTRINSIC
Pfam:MRP-S22 67 308 7.5e-111 PFAM
low complexity region 311 322 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189395
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,274,605 (GRCm39) D236G probably damaging Het
5031410I06Rik T C 5: 26,309,153 (GRCm39) R50G probably damaging Het
Adam32 A T 8: 25,327,846 (GRCm39) probably benign Het
Adm A G 7: 110,227,788 (GRCm39) Y52C probably damaging Het
Aff4 A G 11: 53,302,817 (GRCm39) T1097A probably damaging Het
Ccne1 A C 7: 37,805,726 (GRCm39) V50G probably benign Het
Cxadr C A 16: 78,131,115 (GRCm39) Y210* probably null Het
Dnajc17 T C 2: 119,011,441 (GRCm39) E163G probably benign Het
Dnmt3b T A 2: 153,514,422 (GRCm39) M405K possibly damaging Het
Enpp7 A T 11: 118,881,371 (GRCm39) N172I probably damaging Het
G2e3 T A 12: 51,414,545 (GRCm39) S340T probably benign Het
Kat2b A G 17: 53,972,852 (GRCm39) N722S probably benign Het
Kcnh5 C A 12: 75,161,120 (GRCm39) V263F probably damaging Het
Ldlrad1 A G 4: 107,075,086 (GRCm39) D211G probably damaging Het
Lrp1 A G 10: 127,378,074 (GRCm39) V4082A possibly damaging Het
Maco1 A G 4: 134,555,517 (GRCm39) S319P probably damaging Het
Mycbp2 A T 14: 103,364,189 (GRCm39) V4370D possibly damaging Het
Npsr1 G T 9: 24,165,989 (GRCm39) R125L probably damaging Het
Osbpl9 T C 4: 108,944,628 (GRCm39) I116V probably damaging Het
Parp4 G T 14: 56,840,334 (GRCm39) A580S possibly damaging Het
Pfkm T C 15: 98,023,475 (GRCm39) V391A probably benign Het
Psen1 T A 12: 83,769,792 (GRCm39) S170T probably damaging Het
Rsbn1l C T 5: 21,101,153 (GRCm39) V796I probably benign Het
Slc39a8 A G 3: 135,590,494 (GRCm39) I396V probably benign Het
Spag16 T C 1: 70,338,809 (GRCm39) C436R probably damaging Het
Stpg1 A G 4: 135,233,718 (GRCm39) probably benign Het
Tmem86b A G 7: 4,631,756 (GRCm39) probably benign Het
Trf A G 9: 103,103,342 (GRCm39) probably benign Het
Trim61 A T 8: 65,466,743 (GRCm39) Y173N possibly damaging Het
Wrap73 T C 4: 154,237,096 (GRCm39) S228P probably damaging Het
Zfc3h1 T C 10: 115,252,779 (GRCm39) V1364A probably benign Het
Other mutations in Copb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Copb2 APN 9 98,450,130 (GRCm39) missense probably benign 0.00
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
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 2012-12-06