Mutagenetix > Incidental Mutation

Incidental Mutation 'R7829:Copb2'

602335

Institutional Source

Beutler Lab

Gene Symbol

Copb2

Ensembl Gene

ENSMUSG00000032458

Gene Name

coatomer protein complex, subunit beta 2 (beta prime)

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7829 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98563721-98588382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98588094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 891 (I891T)

Ref Sequence

ENSEMBL: ENSMUSP00000035033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035033] [ENSMUST00000035034]

AlphaFold

O55029

Predicted Effect

probably damaging
Transcript: ENSMUST00000035033
AA Change: I891T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: I891T

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

probably benign
Transcript: ENSMUST00000035034

SMART Domains

Protein: ENSMUSP00000035034
Gene: ENSMUSG00000032459

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (61/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	G	11: 58,879,997	L102V	not run	Het
Abca12	A	T	1: 71,292,421	S1323R	probably benign	Het
Abcb1a	T	A	5: 8,698,623	I318N	probably benign	Het
Adam10	A	T	9: 70,766,927	K524*	probably null	Het
Adamts3	C	T	5: 89,861,490	G105R	probably damaging	Het
Adcy7	T	C	8: 88,315,759	I418T	probably damaging	Het
Alg9	T	A	9: 50,788,171	F165L	probably damaging	Het
Anapc2	G	T	2: 25,277,741	R440L	probably damaging	Het
Arhgef17	A	T	7: 100,876,845	H1876Q	probably benign	Het
Armc2	G	A	10: 41,926,860	R606C	probably benign	Het
Cd163	T	C	6: 124,304,779	S14P	probably benign	Het
Cfap74	T	C	4: 155,429,237	V502A		Het
Creb3	T	C	4: 43,566,322	L276P	probably damaging	Het
Crnkl1	T	A	2: 145,931,349	M126L	probably benign	Het
Csrp2	C	T	10: 110,935,184	A50V	probably damaging	Het
Ctsd	A	G	7: 142,377,142	C284R	probably damaging	Het
Dll3	G	A	7: 28,294,650	A454V	probably damaging	Het
Dmbx1	C	T	4: 115,923,907		probably benign	Het
Dnah6	C	A	6: 73,127,919	E1896*	probably null	Het
Dtwd1	A	G	2: 126,164,759	T234A	probably damaging	Het
Fhod3	G	A	18: 25,115,890		probably null	Het
Gm10549	C	A	18: 33,464,410		probably benign	Het
Gm7298	T	C	6: 121,765,338	I495T	probably damaging	Het
Grhl3	T	C	4: 135,561,221	N51S	probably damaging	Het
Gtpbp4	A	T	13: 8,985,330		probably null	Het
Hsd17b14	A	C	7: 45,566,785	S260R	probably benign	Het
Insig2	A	T	1: 121,307,329		probably null	Het
Itgae	T	A	11: 73,138,792	V1046D	probably benign	Het
Kif1b	A	T	4: 149,220,990		probably null	Het
Kmo	A	G	1: 175,650,659		probably null	Het
Loxhd1	A	G	18: 77,408,787	N29S	probably damaging	Het
Lrp1b	A	T	2: 40,903,448	C2484*	probably null	Het
Lrrc23	T	A	6: 124,770,748	M293L	probably benign	Het
Mphosph6	T	C	8: 117,799,068	D47G	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naglu	G	A	11: 101,076,610	R462H	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nlrc5	T	C	8: 94,521,769	S1711P	probably damaging	Het
Olfr129	T	C	17: 38,055,329	Y79C	possibly damaging	Het
Olfr420	A	T	1: 174,158,859	I29F	probably benign	Het
Olfr97	T	C	17: 37,232,310	E20G	probably benign	Het
Osbpl6	G	A	2: 76,593,387	A857T	probably damaging	Het
Oscp1	C	A	4: 126,088,408	D380E	probably benign	Het
Pdzd7	C	A	19: 45,039,239	R265S	probably benign	Het
Piezo2	A	T	18: 63,113,876		probably null	Het
Pigc	G	A	1: 161,970,464	R5H	probably benign	Het
Pla2g5	C	A	4: 138,804,534	R53L	probably benign	Het
Rbm6	T	C	9: 107,852,706	R248G	probably damaging	Het
Rev1	A	T	1: 38,056,445	L877Q	probably damaging	Het
Rpap3	A	T	15: 97,681,708	N474K	probably benign	Het
Ryr2	T	A	13: 11,827,607	E468V	possibly damaging	Het
Samd9l	A	C	6: 3,374,749	D837E	probably benign	Het
Sipa1l2	T	C	8: 125,451,988	N1124S	probably damaging	Het
Slc11a2	G	A	15: 100,409,261	A83V	possibly damaging	Het
Slfn14	A	G	11: 83,281,817		probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Suclg1	A	G	6: 73,275,243		probably null	Het
Syne1	A	C	10: 5,342,293	V1325G	probably damaging	Het
Tmprss15	T	C	16: 78,987,650	S706G	probably benign	Het
Tox2	T	C	2: 163,320,376	Y389H	probably damaging	Het
Trappc10	T	C	10: 78,199,075	T946A	probably benign	Het
Ubqln1	C	T	13: 58,177,905	E546K	probably damaging	Het
Zfp106	A	G	2: 120,524,057	V1411A	possibly damaging	Het
Zkscan5	A	T	5: 145,218,703	K395*	probably null	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
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
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'- AACAGGCCTCTGAGGTTGAG -3'
(R):5'- CTGAAGATGAAGTGGCTATGTTCC -3'

Sequencing Primer
(F):5'- TCCTAGTTCAGAGAGAAGCCTTC -3'
(R):5'- ATGAAGTGGCTATGTTCCCCCTTG -3'

Posted On

2019-12-03