Incidental Mutation 'IGL00093:Copb2'
ID1286
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? Essential (E-score: 1.000) question?
Stock #IGL00093
Quality Score
Status
Chromosome9
Chromosomal Location98563721-98588382 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98568077 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 30 (M30V)
Ref Sequence ENSEMBL: ENSMUSP00000035033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035033]
Predicted Effect probably benign
Transcript: ENSMUST00000035033
AA Change: M30V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: M30V

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: ENSMUST00000058992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194714
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,653,560 D60G probably damaging Het
9230110C19Rik A G 9: 8,022,432 V263A probably benign Het
Abca2 T A 2: 25,445,963 probably null Het
Adamts14 C T 10: 61,229,676 R348H probably damaging Het
Aimp2 A T 5: 143,906,706 I22N probably damaging Het
Cacna1c A G 6: 118,676,444 probably benign Het
Cfap221 A T 1: 119,932,845 Y684N possibly damaging Het
Cldn6 T A 17: 23,681,724 probably benign Het
Cyhr1 A G 15: 76,646,538 I194T probably damaging Het
Dcaf17 G A 2: 71,078,159 E243K probably benign Het
Dhx35 T C 2: 158,827,916 Y257H probably damaging Het
Dzank1 A T 2: 144,481,725 Y600* probably null Het
Fam208a T G 14: 27,448,206 L364R probably damaging Het
Flvcr1 T A 1: 191,015,489 R201* probably null Het
Fstl4 G A 11: 53,186,275 V620I probably benign Het
Gm21976 G A 13: 98,302,561 V20M probably benign Het
Ifi208 T C 1: 173,679,038 probably null Het
Kdm4c T C 4: 74,345,501 V674A probably benign Het
Lig1 T A 7: 13,301,452 Y612* probably null Het
Marco A G 1: 120,485,703 V295A probably benign Het
Myo5c T C 9: 75,242,880 probably benign Het
Olfr394 A G 11: 73,888,249 L41P probably damaging Het
Olfr643 T C 7: 104,059,416 Y62C probably damaging Het
Olfr815 T A 10: 129,902,659 D17V possibly damaging Het
Pkd1l1 A G 11: 8,961,971 M245T unknown Het
Pomt1 A G 2: 32,241,772 I158V probably benign Het
Ptpn21 A G 12: 98,680,468 W967R probably damaging Het
Rrp12 A T 19: 41,887,094 M270K possibly damaging Het
Spats2 A G 15: 99,180,593 E179G possibly damaging Het
Tapbp T C 17: 33,919,892 V11A probably benign Het
Tonsl A G 15: 76,638,496 F185S possibly damaging Het
Trpm1 A G 7: 64,243,450 I901V probably damaging Het
Tulp2 A G 7: 45,521,908 N371S probably damaging Het
Unc5d A T 8: 28,719,826 V433D probably damaging Het
Wasf3 G A 5: 146,455,651 R177Q probably damaging Het
Wdr63 C T 3: 146,083,004 G274E probably benign Het
Zfp715 A T 7: 43,299,749 H262Q possibly damaging Het
Other mutations in Copb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL01906:Copb2 APN 9 98580330 missense probably benign 0.10
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
R7211:Copb2 UTSW 9 98574145 missense probably damaging 1.00
R7829:Copb2 UTSW 9 98588094 missense probably damaging 0.99
R7960:Copb2 UTSW 9 98580354 missense possibly damaging 0.65
R8311:Copb2 UTSW 9 98568019 missense possibly damaging 0.78
Z1176:Copb2 UTSW 9 98586146 missense probably benign 0.16
Posted On2011-07-12