Incidental Mutation 'IGL02138:Copb2'
ID 281431
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 # IGL02138
Quality Score
Status
Chromosome 9
Chromosomal Location 98445784-98470428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98469605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 829 (P829S)
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: P829S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: P829S

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: ENSMUST00000187151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195540
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T G 14: 32,384,672 (GRCm39) D431A possibly damaging Het
Adgrb1 T C 15: 74,401,631 (GRCm39) M209T probably damaging Het
Ano8 T C 8: 71,937,486 (GRCm39) H86R probably damaging Het
Camk1d G T 2: 5,449,895 (GRCm39) Y87* probably null Het
Capza3 A G 6: 139,987,872 (GRCm39) D157G probably benign Het
Ckmt2 A T 13: 92,009,947 (GRCm39) D124E probably benign Het
Col14a1 C A 15: 55,284,231 (GRCm39) Q831K unknown Het
Dlg5 A G 14: 24,208,419 (GRCm39) V929A probably benign Het
Dolk A G 2: 30,175,991 (GRCm39) V18A probably benign Het
Ecm2 G T 13: 49,676,304 (GRCm39) L340F probably damaging Het
Hacl1 A G 14: 31,352,940 (GRCm39) L149P probably benign Het
Higd2a A T 13: 54,738,235 (GRCm39) probably null Het
Hspa12a A T 19: 58,816,730 (GRCm39) S28R probably benign Het
Igkv5-37 A G 6: 69,940,435 (GRCm39) Y70H probably damaging Het
Iho1 G A 9: 108,283,820 (GRCm39) T208I probably benign Het
Kif11 T C 19: 37,373,057 (GRCm39) V92A probably damaging Het
Kif26a T C 12: 112,141,284 (GRCm39) S696P probably damaging Het
Kng1 A T 16: 22,886,558 (GRCm39) N168Y probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lepr A G 4: 101,625,264 (GRCm39) D473G probably damaging Het
Lipt1 G A 1: 37,914,867 (GRCm39) E308K possibly damaging Het
Luc7l3 A T 11: 94,194,792 (GRCm39) F76Y probably benign Het
Mapk1 A G 16: 16,841,316 (GRCm39) I163V probably benign Het
Matn3 A G 12: 9,017,638 (GRCm39) E430G possibly damaging Het
Med13 A T 11: 86,177,591 (GRCm39) S1502T probably damaging Het
Mlf1 A T 3: 67,307,046 (GRCm39) H237L probably benign Het
Mss51 A C 14: 20,534,923 (GRCm39) Y282* probably null Het
Ncoa3 A G 2: 165,897,182 (GRCm39) T658A probably benign Het
Or1p1c A T 11: 74,160,544 (GRCm39) M110L probably benign Het
Or7d11 A T 9: 19,966,196 (GRCm39) S188T probably benign Het
Phrf1 T A 7: 140,839,196 (GRCm39) probably benign Het
Ppme1 C T 7: 99,983,139 (GRCm39) M335I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sntg2 T A 12: 30,357,230 (GRCm39) probably null Het
Spryd3 T C 15: 102,027,354 (GRCm39) probably benign Het
Srpx A G X: 9,933,662 (GRCm39) probably null Het
St8sia1 G T 6: 142,909,504 (GRCm39) probably benign Het
Stab1 A G 14: 30,865,470 (GRCm39) probably null Het
Sycp2 A T 2: 178,000,047 (GRCm39) S976R probably benign Het
Sycp2 T A 2: 178,043,783 (GRCm39) K108* probably null Het
Tagap1 T C 17: 7,223,485 (GRCm39) T404A probably damaging Het
Tg C T 15: 66,589,082 (GRCm39) T21I probably benign Het
Tlr4 A T 4: 66,759,202 (GRCm39) Y665F probably damaging Het
Tmc8 T G 11: 117,682,081 (GRCm39) S525A probably benign Het
Tor4a A T 2: 25,084,810 (GRCm39) D364E probably benign Het
Trim44 T C 2: 102,211,253 (GRCm39) I236V probably benign Het
Ube2o A G 11: 116,434,226 (GRCm39) probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Xirp2 A T 2: 67,347,300 (GRCm39) R3180S probably benign Het
Zfp335 A G 2: 164,735,724 (GRCm39) C1077R 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
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 2015-04-16