Incidental Mutation 'R4862:Copb2'
ID 374596
Institutional Source Beutler Lab
Gene Symbol Copb2
Ensembl Gene ENSMUSG00000032458
Gene Name COPI coat complex subunit beta 2
Synonyms
MMRRC Submission 043260-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4862 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 98445784-98470428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98463320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 512 (D512Y)
Ref Sequence ENSEMBL: ENSMUSP00000035033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035033]
AlphaFold O55029
Predicted Effect probably damaging
Transcript: ENSMUST00000035033
AA Change: D512Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: D512Y

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: ENSMUST00000186657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214600
Meta Mutation Damage Score 0.7123 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 95% (40/42)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,747,083 (GRCm39) T167A probably benign Het
Aox1 T G 1: 58,134,316 (GRCm39) D1096E probably damaging Het
Arid4a A T 12: 71,122,721 (GRCm39) D1034V probably damaging Het
Ccdc168 G A 1: 44,097,178 (GRCm39) P1307S possibly damaging Het
Chaf1b T A 16: 93,684,022 (GRCm39) L91Q probably damaging Het
Daam1 A G 12: 71,988,981 (GRCm39) E127G unknown Het
Dhx16 A G 17: 36,194,154 (GRCm39) I422V probably benign Het
Dnah6 C T 6: 73,098,771 (GRCm39) V2043I probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync2h1 A G 9: 7,147,717 (GRCm39) V971A probably benign Het
Elapor1 A G 3: 108,375,149 (GRCm39) S573P probably benign Het
Elmo1 A G 13: 20,633,682 (GRCm39) H448R probably benign Het
Fndc1 A T 17: 7,988,567 (GRCm39) V1165D unknown Het
Hapln1 G A 13: 89,749,571 (GRCm39) G39S possibly damaging Het
Igkv6-13 C A 6: 70,434,765 (GRCm39) V27L probably benign Het
Krt28 A T 11: 99,255,936 (GRCm39) I441N possibly damaging Het
Lgr5 A T 10: 115,298,669 (GRCm39) D286E probably damaging Het
Mapkap1 A G 2: 34,513,442 (GRCm39) Y448C probably damaging Het
Or2f1 T C 6: 42,721,489 (GRCm39) Y173H possibly damaging Het
Or5t9 T A 2: 86,659,876 (GRCm39) V260E probably damaging Het
Ppt1 A C 4: 122,738,242 (GRCm39) N89T probably damaging Het
Prss3b T G 6: 41,009,345 (GRCm39) D163A possibly damaging Het
Ptgs1 G T 2: 36,127,267 (GRCm39) R51L probably damaging Het
Slc47a2 A G 11: 61,204,520 (GRCm39) F277S possibly damaging Het
Smcr8 A G 11: 60,668,897 (GRCm39) E15G probably benign Het
Tbce A G 13: 14,173,004 (GRCm39) S476P possibly damaging Het
Tmem131l A T 3: 83,805,517 (GRCm39) probably benign Het
Unc5c T C 3: 141,495,534 (GRCm39) Y468H probably damaging Het
Ush1c A T 7: 45,878,664 (GRCm39) L117H probably damaging Het
Wdfy4 A G 14: 32,822,860 (GRCm39) probably null Het
Zfa-ps G T 10: 52,419,192 (GRCm39) noncoding transcript Het
Zfat C A 15: 68,051,959 (GRCm39) A605S probably benign Het
Zfp853 T A 5: 143,275,416 (GRCm39) Q68L unknown Het
Zfyve16 G A 13: 92,644,764 (GRCm39) T1146I probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTGCACAATGACTACCTTGC -3'
(R):5'- TTATCAGAACTTACAGTCACCCTAC -3'

Sequencing Primer
(F):5'- GCTGTAAGACTGATCCTGTAGTGAAC -3'
(R):5'- GTCACCCTACCCAAACATAATTTAC -3'
Posted On 2016-03-17