Incidental Mutation 'R5593:Copb2'
ID 437630
Institutional Source Beutler Lab
Gene Symbol Copb2
Ensembl Gene ENSMUSG00000032458
Gene Name coatomer protein complex, subunit beta 2 (beta prime)
Synonyms
MMRRC Submission 043145-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R5593 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 98563721-98588382 bp(+) (GRCm38)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 98587038 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035033] [ENSMUST00000035033] [ENSMUST00000035034]
AlphaFold O55029
Predicted Effect probably null
Transcript: ENSMUST00000035033
SMART Domains Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458

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 null
Transcript: ENSMUST00000035033
SMART Domains Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458

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
Meta Mutation Damage Score 0.9499 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (71/71)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,938,027 V120I unknown Het
9330182L06Rik T A 5: 9,266,350 L27Q probably benign Het
Anpep T G 7: 79,842,046 K69T probably benign Het
Appbp2 A T 11: 85,194,583 I499K possibly damaging Het
Cpa5 T C 6: 30,630,849 I370T probably benign Het
Cpn2 T C 16: 30,260,080 T268A probably benign Het
Ctbp2 C A 7: 132,998,869 R99I possibly damaging Het
Cul1 G A 6: 47,485,086 W196* probably null Het
Cul1 T C 6: 47,514,991 F402L probably damaging Het
Cysltr2 T C 14: 73,029,491 K260E probably benign Het
Dyrk1a C A 16: 94,659,583 Q33K possibly damaging Het
Epg5 T A 18: 77,957,474 S542T probably damaging Het
Eps8l3 A T 3: 107,891,188 probably benign Het
Evc2 A G 5: 37,386,977 H690R probably damaging Het
Fam227a G A 15: 79,640,058 probably benign Het
Gadl1 G T 9: 116,006,650 G382V probably damaging Het
Gbf1 A G 19: 46,272,524 Q1176R possibly damaging Het
Gdf9 A T 11: 53,433,731 H109L probably damaging Het
Gm7534 T C 4: 134,193,039 K605R probably damaging Het
Gsdmd T A 15: 75,867,007 V411D probably damaging Het
Hdc T C 2: 126,618,584 probably benign Het
Ifrd2 A G 9: 107,590,175 D82G probably damaging Het
Itpkb T C 1: 180,334,096 S596P probably damaging Het
Kcnmb3 A G 3: 32,491,947 V8A possibly damaging Het
Lyst T G 13: 13,743,333 I3326S probably damaging Het
Mcm9 G A 10: 53,538,297 T229I probably damaging Het
Medag T A 5: 149,426,950 F21L probably benign Het
Mefv A T 16: 3,715,451 C319S probably benign Het
Mettl23 T A 11: 116,843,767 V54D probably damaging Het
Mul1 A G 4: 138,439,232 D199G probably damaging Het
Ncor1 A T 11: 62,369,304 I266N probably damaging Het
Nek10 A T 14: 14,980,544 K967* probably null Het
Nrcam A G 12: 44,559,700 T410A probably damaging Het
Olfr222 T C 11: 59,571,048 R231G possibly damaging Het
Olfr59 A G 11: 74,288,792 I49V possibly damaging Het
Olfr607 C T 7: 103,460,385 silent Het
Olfr677 T C 7: 105,056,504 I86T probably damaging Het
Pate2 A T 9: 35,670,482 D24V possibly damaging Het
Plcb3 T C 19: 6,954,749 I1124V possibly damaging Het
Ptprc A T 1: 138,117,720 probably benign Het
Rab6a T C 7: 100,608,171 probably benign Het
Rnf208 G T 2: 25,243,333 W13L possibly damaging Het
Rps6kl1 G T 12: 85,146,901 Q139K possibly damaging Het
Sdk1 T A 5: 141,956,124 I509N probably damaging Het
Sephs1 A G 2: 4,893,287 I170V probably benign Het
Slc17a8 C T 10: 89,606,840 D44N probably benign Het
Slc23a1 T A 18: 35,622,296 I489F probably damaging Het
Slc25a19 A T 11: 115,616,592 Y235N probably damaging Het
Slc47a2 A G 11: 61,342,660 V40A probably benign Het
Slurp2 C T 15: 74,743,068 V75I probably benign Het
Smc1b A C 15: 85,121,641 M354R probably benign Het
Spice1 C A 16: 44,370,752 A323E possibly damaging Het
Sptbn2 T A 19: 4,748,947 V2015E probably damaging Het
Sptlc2 A C 12: 87,369,083 F57V probably benign Het
Srsf1 A G 11: 88,047,879 N14S possibly damaging Het
Ssh2 T A 11: 77,421,366 D228E probably damaging Het
Synj2 A G 17: 6,038,115 *1480W probably null Het
Syt14 A T 1: 192,930,923 M523K probably damaging Het
Tff3 A T 17: 31,129,542 V12E probably benign Het
Tgm2 C A 2: 158,127,342 C371F probably damaging Het
Tmem260 A C 14: 48,474,044 I197L probably benign Het
Unc5a A G 13: 55,004,934 D887G possibly damaging Het
Vstm4 G T 14: 32,919,290 A277S probably benign Het
Wdtc1 A T 4: 133,294,391 probably null Het
Zan A G 5: 137,468,338 F419S possibly damaging Het
Zfp317 G A 9: 19,647,288 R266Q probably damaging Het
Zfp931 T A 2: 178,067,802 T264S possibly damaging 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
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
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
R8537:Copb2 UTSW 9 98587619 missense probably null 0.00
R8982:Copb2 UTSW 9 98574111 missense probably damaging 0.99
Z1176:Copb2 UTSW 9 98586146 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- ACAAAGTTCGCTGGTTTTGTTC -3'
(R):5'- CAAGGGATTCTGCTGCTTTCTG -3'

Sequencing Primer
(F):5'- TTGTTCAACATTGAGACAAAGGGCTG -3'
(R):5'- TGAGAGATTCTCCCTCCACAG -3'
Posted On 2016-10-26