Mutagenetix > Incidental Mutation

Incidental Mutation 'R9800:Copb2'

735163

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 #

R9800 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98563721-98588382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98579028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 381 (M381K)

Ref Sequence

ENSEMBL: ENSMUSP00000035033 (fasta)

Gene Model

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

AlphaFold

O55029

Predicted Effect

probably damaging
Transcript: ENSMUST00000035033
AA Change: M381K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: M381K

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,520,060	I1009N	possibly damaging	Het
Adcy8	T	A	15: 64,699,246	N1213Y	probably benign	Het
Ahctf1	T	C	1: 179,753,868	S1590G	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,272	N277K	probably damaging	Het
Ank2	A	T	3: 126,946,500	S1912T	unknown	Het
Ank3	T	A	10: 69,898,127	N740K	unknown	Het
Atp13a3	A	C	16: 30,340,233	I800S	probably benign	Het
AU041133	T	A	10: 82,150,845	C111S	probably damaging	Het
Azi2	T	A	9: 118,055,856	I211N	probably benign	Het
Btbd11	C	A	10: 85,388,215	A296E	unknown	Het
Camk2b	T	C	11: 5,972,408	N480S	probably damaging	Het
Card6	A	G	15: 5,099,220	V898A	probably benign	Het
Crisp1	A	T	17: 40,305,180	M102K	probably damaging	Het
Dcxr	A	T	11: 120,727,258		probably benign	Het
Dennd5a	C	A	7: 109,901,167	R917L	probably benign	Het
Egflam	T	A	15: 7,250,044	T494S	probably benign	Het
Fkbpl	T	A	17: 34,645,717	M153K	probably benign	Het
Helz2	A	T	2: 181,240,823	I59N	probably damaging	Het
Ldlrap1	T	C	4: 134,749,992	T194A	probably benign	Het
Lman1l	T	C	9: 57,615,777	D133G	probably damaging	Het
Lrrc27	T	C	7: 139,227,997	M340T	probably benign	Het
Lum	T	A	10: 97,568,295	S17R	probably benign	Het
Malrd1	A	G	2: 15,842,594	K1182E	unknown	Het
Map3k2	A	T	18: 32,200,016	D81V	possibly damaging	Het
Muc5b	A	T	7: 141,861,743	T2809S	possibly damaging	Het
Nle1	C	A	11: 82,903,050	V387L	probably benign	Het
Nr1h4	T	C	10: 89,454,756	D474G	probably benign	Het
Nup205	T	C	6: 35,186,533	I144T	possibly damaging	Het
Olfr1122	G	T	2: 87,388,164	C153F	probably damaging	Het
Olfr1309	G	A	2: 111,983,849	S75L	possibly damaging	Het
Olfr23	C	A	11: 73,941,160	L305I	probably benign	Het
Olfr444	A	T	6: 42,956,157	I220F	probably damaging	Het
Olfr566	T	C	7: 102,856,886	Y132C	probably benign	Het
Olfr732	G	A	14: 50,282,244	T3I	probably benign	Het
Pkn3	C	T	2: 30,083,278	R371*	probably null	Het
Plin2	A	T	4: 86,668,505	S30T	possibly damaging	Het
Ppfibp1	T	C	6: 147,016,271	V475A	probably benign	Het
Ppp2ca	T	C	11: 52,118,083	Y137H	probably damaging	Het
Rasgrf2	T	A	13: 92,131,352	Q48L	probably damaging	Het
Rnf168	G	C	16: 32,298,568	V316L	probably benign	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Spata31d1d	T	C	13: 59,726,823	H966R	possibly damaging	Het
Speg	C	A	1: 75,422,714	D2268E	probably benign	Het
Srp54c	A	G	12: 55,250,026	I170V	probably benign	Het
Syde2	A	G	3: 145,998,609	R439G	probably benign	Het
Tcof1	T	C	18: 60,816,486	K1155R	unknown	Het
Tmem184c	T	C	8: 77,596,458	I592V	probably benign	Het
Trav6-7-dv9	A	G	14: 53,710,212	Y57C	probably damaging	Het
Trpc1	T	A	9: 95,743,250	I108F	probably damaging	Het
Virma	A	T	4: 11,546,007	H1615L	probably damaging	Het
Vmn2r10	A	T	5: 109,002,538	D213E	probably damaging	Het
Vmn2r116	T	A	17: 23,401,425	V711E	probably damaging	Het
Vps16	T	C	2: 130,440,485	F413L	probably benign	Het
Vwa1	G	A	4: 155,772,879	P154L	probably damaging	Het
Wasf1	T	C	10: 40,936,697	I494T	unknown	Het
Wdr36	A	G	18: 32,852,647	D539G	possibly damaging	Het
Zfp81	A	T	17: 33,335,437	C134*	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
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
Z1176:Copb2	UTSW	9	98586146	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CACACTGATTGATAGTTGCTTTTGG -3'
(R):5'- AAGGGCGCTTTACACTCTCC -3'

Sequencing Primer
(F):5'- CTGATTGATAGTTGCTTTTGGTTTTG -3'
(R):5'- CTCTCCAAGTGCTTCAATGAAG -3'

Posted On

2022-11-14