Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:Copb2'

172800

Institutional Source

Beutler Lab

Gene Symbol

Copb2

Ensembl Gene

ENSMUSG00000032458

Gene Name

coatomer protein complex, subunit beta 2 (beta prime)

Synonyms

MMRRC Submission

039668-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98563721-98588382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98580160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 428 (F428L)

Ref Sequence

ENSEMBL: ENSMUSP00000035033 (fasta)

Gene Model

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

AlphaFold

O55029

Predicted Effect

probably benign
Transcript: ENSMUST00000035033
AA Change: F428L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: F428L

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

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	C	A	13: 105,082,241	Q28K	probably benign	Het
Adamts10	T	A	17: 33,537,342	S320T	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Als2	T	C	1: 59,218,067	E12G	probably benign	Het
Arhgef10	A	T	8: 14,947,157	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,749,052		probably null	Het
Avil	A	G	10: 127,010,625		probably null	Het
C2cd3	G	A	7: 100,372,497		probably null	Het
Col18a1	G	A	10: 77,059,297	P1177S	probably damaging	Het
Cpa1	A	G	6: 30,640,924	E138G	probably damaging	Het
Ctsm	T	C	13: 61,538,435	I12V	possibly damaging	Het
Dctn1	A	G	6: 83,197,596	Q967R	possibly damaging	Het
Dok2	T	C	14: 70,776,953	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,577,658	M1I	probably null	Het
Fkbp8	T	A	8: 70,531,632	L210Q	probably damaging	Het
Fpr1	T	A	17: 17,877,001	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,940,783	D243E	probably damaging	Het
Gm281	C	T	14: 13,829,796	E649K	probably damaging	Het
Gm5422	A	G	10: 31,249,806		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,622,077	V79G	probably damaging	Het
Htr6	A	T	4: 139,061,493	V417E	probably benign	Het
Ifnar2	G	A	16: 91,391,867	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,479,482		probably benign	Het
Itpr2	A	G	6: 146,180,290	F182L	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lama3	A	G	18: 12,407,494	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,158,934	V108L	possibly damaging	Het
Lrrc14b	A	G	13: 74,361,254		probably null	Het
Magi3	T	C	3: 104,051,177	T531A	probably benign	Het
Mapre2	A	G	18: 23,832,954	Y32C	probably damaging	Het
Med1	C	T	11: 98,155,626		probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Olfr1351	A	T	10: 79,017,405	I28L	probably benign	Het
Olfr191	G	A	16: 59,086,045	T146I	probably benign	Het
Olfr516	A	C	7: 108,845,857	L51R	probably damaging	Het
Olfr555	A	G	7: 102,659,201	I127V	probably damaging	Het
Pde1b	A	G	15: 103,521,672	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,522,897	D1664G	probably benign	Het
Plod3	C	T	5: 136,988,993	R208W	probably damaging	Het
Pstk	G	A	7: 131,384,542	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,534,485	V403A	probably damaging	Het
Rad21	C	A	15: 51,970,040	V348F	probably damaging	Het
Sacs	T	A	14: 61,210,732	L3409*	probably null	Het
Setd4	T	A	16: 93,593,248	K98*	probably null	Het
Skint5	A	G	4: 113,483,926	V1385A	probably benign	Het
Stam	C	A	2: 14,146,248	S472*	probably null	Het
Stx2	A	G	5: 128,992,225	F141L	probably damaging	Het
Tia1	A	G	6: 86,420,348	D101G	probably damaging	Het
Ttc21a	T	A	9: 119,954,162		probably null	Het
Usp34	T	A	11: 23,460,651	N2700K	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGATTATCCCTACCCCAATCAGCTCATT -3'
(R):5'- CCCAGTCATAGAAGGCTAAGCCATTTAC -3'

Sequencing Primer
(F):5'- aataaggaattgttttgtgtgctg -3'
(R):5'- TACAGATCTGACTCCCAGCAAG -3'

Posted On

2014-04-24