Incidental Mutation 'IGL01906:Copb2'
ID179677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Copb2
Ensembl Gene ENSMUSG00000032458
Gene Namecoatomer protein complex, subunit beta 2 (beta prime)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.984) question?
Stock #IGL01906
Quality Score
Status
Chromosome9
Chromosomal Location98563721-98588382 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98580330 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 456 (E456V)
Ref Sequence ENSEMBL: ENSMUSP00000035033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035033]
Predicted Effect probably benign
Transcript: ENSMUST00000035033
AA Change: E456V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: E456V

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,216,225 Q24L probably damaging Het
Adam1b A T 5: 121,501,475 N502K probably benign Het
Adam6a T A 12: 113,544,331 M108K probably benign Het
Akr1b10 A G 6: 34,387,811 K69R probably benign Het
Ap5b1 T A 19: 5,570,979 L809* probably null Het
Asxl3 A T 18: 22,522,281 H1116L probably benign Het
Birc6 A G 17: 74,638,358 T2794A probably damaging Het
Bst1 T C 5: 43,837,519 F248L probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep120 A T 18: 53,714,912 V625E probably benign Het
Cgnl1 T C 9: 71,724,567 M501V probably benign Het
Col19a1 T A 1: 24,317,429 D661V probably damaging Het
Csk A G 9: 57,629,021 I201T probably damaging Het
Cttnbp2 G T 6: 18,378,376 S977* probably null Het
Ddr2 A G 1: 169,982,099 W770R probably damaging Het
Dnah7b T C 1: 46,175,453 I1126T probably damaging Het
Dusp27 A C 1: 166,099,523 L840R probably damaging Het
Ephb4 A T 5: 137,361,194 E342V probably damaging Het
Erc2 T A 14: 28,141,306 L496Q probably damaging Het
Faim2 G A 15: 99,514,433 T140I probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Haus3 A C 5: 34,168,323 probably benign Het
Hmcn1 T C 1: 150,667,887 T2846A probably benign Het
Mto1 T C 9: 78,464,931 V561A probably benign Het
Myb T C 10: 21,152,634 Y110C probably damaging Het
Olfr1280 T C 2: 111,315,901 C141R probably damaging Het
Plcd3 T C 11: 103,076,856 Y420C probably damaging Het
Plk4 G T 3: 40,810,381 M603I probably null Het
Scgb1b24 T C 7: 33,744,113 C66R probably damaging Het
Sec23a T C 12: 59,007,044 Y56C probably damaging Het
Setd1b C A 5: 123,157,667 D1099E unknown Het
Sh2d7 G A 9: 54,539,466 probably benign Het
Slc30a10 A T 1: 185,456,396 K221* probably null Het
Slc5a1 T C 5: 33,154,653 L463P probably damaging Het
Strc T C 2: 121,377,634 T419A probably benign Het
Ttc39a T C 4: 109,421,394 M82T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13b T C 15: 35,639,847 probably benign Het
Other mutations in Copb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Copb2 APN 9 98568077 missense probably benign 0.00
IGL00496:Copb2 APN 9 98570318 missense probably benign 0.00
IGL00518:Copb2 APN 9 98582894 missense possibly damaging 0.95
IGL00642:Copb2 APN 9 98579033 missense probably damaging 1.00
IGL00793:Copb2 APN 9 98585004 missense probably benign
IGL00806:Copb2 APN 9 98570664 missense probably damaging 0.97
IGL01599:Copb2 APN 9 98581150 missense probably damaging 0.98
IGL02129:Copb2 APN 9 98585923 unclassified probably benign
IGL02138:Copb2 APN 9 98587552 missense probably benign
IGL03033:Copb2 APN 9 98570373 missense probably benign 0.10
R0646:Copb2 UTSW 9 98563475 unclassified probably benign
R0709:Copb2 UTSW 9 98563167 unclassified probably benign
R1631:Copb2 UTSW 9 98580160 missense probably benign 0.00
R2510:Copb2 UTSW 9 98571648 splice site probably benign
R4862:Copb2 UTSW 9 98581267 missense probably damaging 1.00
R5322:Copb2 UTSW 9 98585976 missense probably benign 0.03
R5593:Copb2 UTSW 9 98587038 critical splice acceptor site probably null
R5745:Copb2 UTSW 9 98574111 missense probably damaging 0.99
R5859:Copb2 UTSW 9 98568108 missense probably benign 0.17
R5990:Copb2 UTSW 9 98570325 missense probably damaging 1.00
R7109:Copb2 UTSW 9 98581280 critical splice donor site probably null
R7124:Copb2 UTSW 9 98577053 missense probably damaging 0.98
Posted On2014-05-07