Incidental Mutation 'R7109:Copb2'
ID551403
Institutional Source Beutler Lab
Gene Symbol Copb2
Ensembl Gene ENSMUSG00000032458
Gene Namecoatomer protein complex, subunit beta 2 (beta prime)
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7109 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location98563721-98588382 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 98581280 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035033]
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T G 2: 151,473,753 K2Q probably damaging Het
Abtb2 T C 2: 103,715,515 Y903H probably benign Het
Adamtsl3 C T 7: 82,611,861 P29S Het
Alcam T A 16: 52,276,829 T355S probably damaging Het
Anapc1 A G 2: 128,674,602 V404A probably benign Het
Bst2 A G 8: 71,537,282 F49S possibly damaging Het
C1qtnf9 G C 14: 60,779,570 W183S probably benign Het
Camsap3 A G 8: 3,598,087 I132V possibly damaging Het
Cchcr1 T A 17: 35,517,941 probably null Het
Cenpk A G 13: 104,230,748 K31E probably benign Het
Cfap221 T C 1: 119,925,571 K798E possibly damaging Het
Dennd1a T A 2: 38,048,792 Y102F probably damaging Het
Eif2ak4 C T 2: 118,405,051 P88S probably damaging Het
Epha6 C A 16: 59,682,668 V959F probably damaging Het
Fam193a C A 5: 34,465,821 T1251K possibly damaging Het
Herc1 A T 9: 66,481,889 Q3896L probably benign Het
Ikbip C A 10: 91,083,228 D34E probably benign Het
Insr A G 8: 3,258,481 V185A probably benign Het
Jakmip1 C T 5: 37,174,765 Q930* probably null Het
Klc1 A G 12: 111,776,865 I209V probably benign Het
Lrrk2 T A 15: 91,764,782 L1660M probably damaging Het
Mbd3l1 G T 9: 18,484,914 D112Y possibly damaging Het
Mrps2 T A 2: 28,468,246 V16E probably benign Het
Ncoa1 G A 12: 4,322,978 T141I possibly damaging Het
Ndst2 G T 14: 20,729,843 R110S probably damaging Het
Nlrp2 A G 7: 5,328,617 V260A probably damaging Het
Olfr1425 A G 19: 12,074,212 I140T probably benign Het
Olfr491 A G 7: 108,317,752 N286S probably damaging Het
Olfr575 A T 7: 102,955,253 V116E probably damaging Het
Olfr828 A T 9: 18,815,608 S229T probably benign Het
Pah T C 10: 87,570,286 V262A probably damaging Het
Pcnt T G 10: 76,369,904 E2538A probably damaging Het
Pdxk T A 10: 78,446,976 I162F probably damaging Het
Plod2 T C 9: 92,573,597 F110L probably damaging Het
Pm20d2 A T 4: 33,187,186 L154Q probably damaging Het
Podxl2 C T 6: 88,843,584 V445I possibly damaging Het
Ppp1r3a A T 6: 14,719,236 W560R probably benign Het
Rasal3 A G 17: 32,392,709 S815P probably damaging Het
Rdm1 A G 11: 101,633,828 K196E probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,579,908 probably benign Het
Scn1a T C 2: 66,350,942 D79G possibly damaging Het
Slc22a21 A G 11: 53,979,503 Y119H possibly damaging Het
Stip1 C T 19: 7,021,810 G467S possibly damaging Het
Synrg C A 11: 84,039,672 A1280E possibly damaging Het
Szt2 A G 4: 118,375,479 C2396R unknown Het
Trappc3 A G 4: 126,273,933 N95S probably benign Het
Tulp4 C T 17: 6,231,780 H695Y probably damaging Het
Ush2a T A 1: 188,381,484 D633E probably benign Het
Wasl G A 6: 24,633,187 P151S probably benign Het
Wwp2 A G 8: 107,483,356 N122S probably benign Het
Zfp51 A G 17: 21,463,569 R149G possibly damaging Het
Zfp764 A G 7: 127,404,715 S415P 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
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
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
Z1176:Copb2 UTSW 9 98586146 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GCTCAGAAAGGTGGTCAGTCA -3'
(R):5'- TTTCTAAAAGTCAGGGCACATATTTA -3'

Sequencing Primer
(F):5'- CTCAGAAAGGTGGTCAGTCATCTGTC -3'
(R):5'- GCCTCTGGATCAAGATGTAGATCTC -3'
Posted On2019-05-15