Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Copb2'

92060

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 #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

98563721-98588382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98581150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 473 (S473P)

Ref Sequence

ENSEMBL: ENSMUSP00000035033 (fasta)

Gene Model

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

AlphaFold

O55029

Predicted Effect

probably damaging
Transcript: ENSMUST00000035033
AA Change: S473P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: S473P

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly 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
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

2013-12-09