Mutagenetix > Incidental Mutation

Incidental Mutation 'R8311:Copb2'

641385

Institutional Source

Beutler Lab

Gene Symbol

Copb2

Ensembl Gene

ENSMUSG00000032458

Gene Name

COPI coat complex subunit beta 2

Synonyms

MMRRC Submission

067796-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98445784-98470428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98450072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 10 (K10N)

Ref Sequence

ENSEMBL: ENSMUSP00000035033 (fasta)

Gene Model

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

AlphaFold

O55029

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035033
AA Change: K10N

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: K10N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,184,815 (GRCm39)		probably benign	Het
4930407I10Rik	T	C	15: 81,947,440 (GRCm39)	W446R	possibly damaging	Het
Aldh1l2	T	A	10: 83,326,479 (GRCm39)	E912D	probably damaging	Het
Apol9a	T	C	15: 77,289,220 (GRCm39)	D49G	possibly damaging	Het
Bnc2	A	T	4: 84,194,582 (GRCm39)	D847E	possibly damaging	Het
Ccdc91	A	G	6: 147,437,114 (GRCm39)	N100S	possibly damaging	Het
Cyp4a14	A	G	4: 115,348,275 (GRCm39)	S401P	probably damaging	Het
Cyp4f15	A	T	17: 32,916,914 (GRCm39)	Q277L	probably benign	Het
Dmxl2	A	T	9: 54,354,217 (GRCm39)	S410T	probably benign	Het
Dnah9	T	C	11: 65,880,644 (GRCm39)	N2651S	probably benign	Het
Efhb	A	G	17: 53,720,489 (GRCm39)		probably null	Het
Eif4ebp1	T	A	8: 27,765,124 (GRCm39)	F113L	probably damaging	Het
Emilin2	C	G	17: 71,562,141 (GRCm39)	D954H	probably damaging	Het
Eng	A	G	2: 32,569,005 (GRCm39)	T511A	probably benign	Het
Eps8l1	A	G	7: 4,474,817 (GRCm39)	D266G	probably damaging	Het
Fam120a	T	C	13: 49,087,433 (GRCm39)	H309R	possibly damaging	Het
Gga3	A	T	11: 115,477,834 (GRCm39)	S585T	probably benign	Het
Gm12117	T	C	11: 33,226,126 (GRCm39)	Q70R	probably damaging	Het
Gpr158	A	G	2: 21,373,701 (GRCm39)	H212R	probably benign	Het
Hmgb1	A	G	5: 148,987,427 (GRCm39)	F41L	possibly damaging	Het
Iqcm	T	A	8: 76,480,118 (GRCm39)		probably benign	Het
Itgav	T	A	2: 83,596,121 (GRCm39)	I214N	probably damaging	Het
Kcna1	T	A	6: 126,619,255 (GRCm39)	H355L	probably benign	Het
Lrrc37a	C	T	11: 103,394,247 (GRCm39)	V393I	probably benign	Het
Mak16	T	C	8: 31,658,697 (GRCm39)	D4G	probably damaging	Het
Metap2	C	T	10: 93,697,384 (GRCm39)	R432H	possibly damaging	Het
Nlrc4	G	A	17: 74,753,540 (GRCm39)	T281M	probably damaging	Het
Ntrk1	T	A	3: 87,688,870 (GRCm39)	Q561L	probably damaging	Het
Or10ak7	A	C	4: 118,791,347 (GRCm39)	S231A	probably damaging	Het
Or10w3	A	G	19: 13,704,035 (GRCm39)	T137A	possibly damaging	Het
Pira1	T	C	7: 3,739,482 (GRCm39)	D462G	probably benign	Het
Polr2a	T	C	11: 69,628,282 (GRCm39)	I1304V	probably null	Het
Ppp4r2	T	C	6: 100,843,343 (GRCm39)	S354P	probably benign	Het
Ptchd3	A	G	11: 121,727,299 (GRCm39)	H391R	possibly damaging	Het
Rchy1	T	C	5: 92,099,762 (GRCm39)	D192G	probably damaging	Het
Rmdn1	T	C	4: 19,575,329 (GRCm39)		probably null	Het
Rp1	T	A	1: 4,418,572 (GRCm39)	I847L	probably benign	Het
Rtn1	T	C	12: 72,350,838 (GRCm39)	E457G	probably damaging	Het
Serpind1	G	A	16: 17,160,730 (GRCm39)	S420N	possibly damaging	Het
Sirpa	T	C	2: 129,458,143 (GRCm39)	V253A	probably damaging	Het
Snapc4	A	T	2: 26,268,546 (GRCm39)	F38L	probably benign	Het
Spata31g1	T	C	4: 42,973,169 (GRCm39)	V834A	probably benign	Het
Srcap	T	C	7: 127,156,969 (GRCm39)	F2321S	probably damaging	Het
Stat4	A	T	1: 52,142,075 (GRCm39)	I641F	probably damaging	Het
Tmem216	A	T	19: 10,529,191 (GRCm39)	F65Y	probably benign	Het
Tmem37	C	T	1: 119,995,982 (GRCm39)	V32M	possibly damaging	Het
Tmprss11c	T	G	5: 86,383,412 (GRCm39)	Q338P	probably damaging	Het
Tonsl	C	T	15: 76,517,463 (GRCm39)	S752N	probably benign	Het
Vmn1r26	T	C	6: 57,985,518 (GRCm39)	K224E	probably benign	Het
Vps13b	T	A	15: 35,887,100 (GRCm39)	V3229D	probably benign	Het
Vwa5b2	C	T	16: 20,409,972 (GRCm39)	R21W	probably damaging	Het
Wdr37	T	C	13: 8,903,609 (GRCm39)	R165G	unknown	Het
Yars2	T	C	16: 16,125,147 (GRCm39)	F388L	probably benign	Het
Ykt6	T	A	11: 5,912,366 (GRCm39)	D106E	probably benign	Het
Zc3h12a	A	C	4: 125,020,788 (GRCm39)	S18R	possibly damaging	Het

Other mutations in Copb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Copb2	APN	9	98,450,130 (GRCm39)	missense	probably benign	0.00
IGL00496:Copb2	APN	9	98,452,371 (GRCm39)	missense	probably benign	0.00
IGL00518:Copb2	APN	9	98,464,947 (GRCm39)	missense	possibly damaging	0.95
IGL00642:Copb2	APN	9	98,461,086 (GRCm39)	missense	probably damaging	1.00
IGL00793:Copb2	APN	9	98,467,057 (GRCm39)	missense	probably benign
IGL00806:Copb2	APN	9	98,452,717 (GRCm39)	missense	probably damaging	0.97
IGL01599:Copb2	APN	9	98,463,203 (GRCm39)	missense	probably damaging	0.98
IGL01906:Copb2	APN	9	98,462,383 (GRCm39)	missense	probably benign	0.10
IGL02129:Copb2	APN	9	98,467,976 (GRCm39)	unclassified	probably benign
IGL02138:Copb2	APN	9	98,469,605 (GRCm39)	missense	probably benign
IGL03033:Copb2	APN	9	98,452,426 (GRCm39)	missense	probably benign	0.10
R0646:Copb2	UTSW	9	98,445,528 (GRCm39)	unclassified	probably benign
R0709:Copb2	UTSW	9	98,445,220 (GRCm39)	unclassified	probably benign
R1631:Copb2	UTSW	9	98,462,213 (GRCm39)	missense	probably benign	0.00
R2510:Copb2	UTSW	9	98,453,701 (GRCm39)	splice site	probably benign
R4862:Copb2	UTSW	9	98,463,320 (GRCm39)	missense	probably damaging	1.00
R5322:Copb2	UTSW	9	98,468,029 (GRCm39)	missense	probably benign	0.03
R5593:Copb2	UTSW	9	98,469,091 (GRCm39)	critical splice acceptor site	probably null
R5745:Copb2	UTSW	9	98,456,164 (GRCm39)	missense	probably damaging	0.99
R5859:Copb2	UTSW	9	98,450,161 (GRCm39)	missense	probably benign	0.17
R5990:Copb2	UTSW	9	98,452,378 (GRCm39)	missense	probably damaging	1.00
R7109:Copb2	UTSW	9	98,463,333 (GRCm39)	critical splice donor site	probably null
R7124:Copb2	UTSW	9	98,459,106 (GRCm39)	missense	probably damaging	0.98
R7211:Copb2	UTSW	9	98,456,198 (GRCm39)	missense	probably damaging	1.00
R7829:Copb2	UTSW	9	98,470,147 (GRCm39)	missense	probably damaging	0.99
R7960:Copb2	UTSW	9	98,462,407 (GRCm39)	missense	possibly damaging	0.65
R8537:Copb2	UTSW	9	98,469,672 (GRCm39)	missense	probably null	0.00
R8982:Copb2	UTSW	9	98,456,164 (GRCm39)	missense	probably damaging	0.99
R9539:Copb2	UTSW	9	98,467,983 (GRCm39)	critical splice acceptor site	probably null
R9762:Copb2	UTSW	9	98,464,901 (GRCm39)	missense	probably benign	0.38
R9800:Copb2	UTSW	9	98,461,081 (GRCm39)	missense	probably damaging	0.99
Z1176:Copb2	UTSW	9	98,468,199 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGTGATTAACAAAGGTGCTGTAG -3'
(R):5'- ATCCTATTTTGAGCAGCAGCACAG -3'

Sequencing Primer
(F):5'- GGTGCTGTAGAATTGATACCATTCAC -3'
(R):5'- ACAGATACAGCTGCTTGGC -3'

Posted On

2020-07-28