Incidental Mutation 'R5745:Copb2'
ID 445756
Institutional Source Beutler Lab
Gene Symbol Copb2
Ensembl Gene ENSMUSG00000032458
Gene Name COPI coat complex subunit beta 2
Synonyms
MMRRC Submission 043198-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5745 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 98445784-98470428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98456164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 233 (S233P)
Ref Sequence ENSEMBL: ENSMUSP00000035033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035033]
AlphaFold O55029
Predicted Effect probably damaging
Transcript: ENSMUST00000035033
AA Change: S233P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: S233P

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: ENSMUST00000214600
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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
3110082I17Rik G A 5: 139,349,828 (GRCm39) R74W probably damaging Het
4933407L21Rik T G 1: 85,858,995 (GRCm39) probably null Het
Adcy8 A T 15: 64,792,320 (GRCm39) I212N possibly damaging Het
Cobll1 T C 2: 64,928,801 (GRCm39) T879A probably damaging Het
Cpa5 T A 6: 30,630,436 (GRCm39) M330K probably damaging Het
Dgcr8 A T 16: 18,098,307 (GRCm39) N361K probably benign Het
Dmxl1 A G 18: 49,979,653 (GRCm39) E96G probably benign Het
Dock8 T A 19: 25,107,761 (GRCm39) N830K probably benign Het
Ephb1 C T 9: 102,072,633 (GRCm39) D49N probably benign Het
Fer1l6 A G 15: 58,443,238 (GRCm39) I514V probably benign Het
Fpr1 A G 17: 18,097,344 (GRCm39) I215T probably benign Het
Hectd4 G A 5: 121,491,565 (GRCm39) V3668M possibly damaging Het
Ighv3-4 T A 12: 114,217,388 (GRCm39) I68L probably benign Het
Intu A G 3: 40,647,402 (GRCm39) probably null Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Mycbp2 A C 14: 103,393,889 (GRCm39) S2781A possibly damaging Het
Myom2 T A 8: 15,172,705 (GRCm39) S1211T probably benign Het
Nrp1 A T 8: 129,194,929 (GRCm39) I462F probably benign Het
Or10d3 T C 9: 39,461,987 (GRCm39) Y60C probably damaging Het
Or6c5c T A 10: 129,299,307 (GRCm39) I254N probably damaging Het
Pcsk1 A C 13: 75,280,079 (GRCm39) S635R probably benign Het
Pms1 A T 1: 53,246,861 (GRCm39) Y280* probably null Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Sema3b C A 9: 107,478,628 (GRCm39) A356S probably damaging Het
Shoc2 C A 19: 54,018,323 (GRCm39) T485K probably benign Het
Slc7a7 G A 14: 54,615,292 (GRCm39) S235L possibly damaging Het
Smcr8 A T 11: 60,674,977 (GRCm39) T918S probably benign Het
Tafa1 G A 6: 96,626,146 (GRCm39) R128Q probably damaging Het
Tle3 C A 9: 61,322,133 (GRCm39) F719L probably damaging Het
Vmn2r45 T A 7: 8,486,074 (GRCm39) I405L probably benign Het
Vmn2r57 A T 7: 41,097,895 (GRCm39) H57Q possibly 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
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
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'- CAGTGAATGTTGTGATGTAACCGTG -3'
(R):5'- CTAGATTCCTAGTCATGATATGGAAGC -3'

Sequencing Primer
(F):5'- TGGTACACATTTCACCACATGC -3'
(R):5'- CCTAGTCATGATATGGAAGCTGCTAG -3'
Posted On 2016-11-21