Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00642:Copb2'

9840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Copb2

Ensembl Gene

ENSMUSG00000032458

Gene Name

coatomer protein complex, subunit beta 2 (beta prime)

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00642

Quality Score

Status

Chromosome

Chromosomal Location

98563721-98588382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98579033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 383 (L383V)

Ref Sequence

ENSEMBL: ENSMUSP00000035033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035033]

AlphaFold

O55029

Predicted Effect

probably damaging
Transcript: ENSMUST00000035033
AA Change: L383V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: L383V

Domain	Start	End	E-Value	Type
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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	T	C	X: 81,420,938	R388G	possibly damaging	Het
Akap9	A	G	5: 3,960,842	Q533R	probably damaging	Het
Ano4	C	T	10: 88,954,667	E892K	probably damaging	Het
Arap2	G	A	5: 62,733,058	R347*	probably null	Het
Cdc7	A	G	5: 106,968,860	I34V	probably benign	Het
Dhx57	A	G	17: 80,274,976	F400S	probably benign	Het
Efr3a	A	G	15: 65,855,417	D605G	possibly damaging	Het
Kbtbd3	A	T	9: 4,330,169	Y181F	probably benign	Het
Smchd1	T	C	17: 71,390,432	E1171G	probably damaging	Het
Tars	A	G	15: 11,394,372	Y60H	probably damaging	Het

Other mutations in Copb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8537:Copb2	UTSW	9	98587619	missense	probably null	0.00
R8982:Copb2	UTSW	9	98574111	missense	probably damaging	0.99
R9539:Copb2	UTSW	9	98585930	critical splice acceptor site	probably null
R9762:Copb2	UTSW	9	98582848	missense	probably benign	0.38
R9800:Copb2	UTSW	9	98579028	missense	probably damaging	0.99
Z1176:Copb2	UTSW	9	98586146	missense	probably benign	0.16

Posted On

2012-12-06