Mutagenetix > Incidental Mutation

Incidental Mutation 'R8982:Copb2'

683781

Institutional Source

Beutler Lab

Gene Symbol

Copb2

Ensembl Gene

ENSMUSG00000032458

Gene Name

COPI coat complex subunit beta 2

Synonyms

MMRRC Submission

068815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98445784-98470428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98456164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 233 (S233P)

Ref Sequence

ENSEMBL: ENSMUSP00000035033 (fasta)

Gene Model

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

AlphaFold

O55029

Predicted Effect

probably damaging
Transcript: ENSMUST00000035033
AA Change: S233P

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

SMART Domains

Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: S233P

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: ENSMUST00000214600

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,677,485 (GRCm39)	N493S	probably benign	Het
Actg2	T	C	6: 83,497,697 (GRCm39)	D185G	probably benign	Het
Alpk3	A	G	7: 80,748,750 (GRCm39)	N1439S	probably damaging	Het
Arid1b	T	A	17: 5,293,316 (GRCm39)	S745T	probably damaging	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
C4b	A	G	17: 34,953,338 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,195,533 (GRCm39)	S79P	probably damaging	Het
Cep295nl	A	T	11: 118,224,671 (GRCm39)	W58R	probably damaging	Het
Ces2f	T	A	8: 105,679,667 (GRCm39)	C387S	probably benign	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Ckap5	T	C	2: 91,437,923 (GRCm39)	V1668A	possibly damaging	Het
Clock	A	G	5: 76,364,559 (GRCm39)	V852A	unknown	Het
Col22a1	A	G	15: 71,845,487 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,536,294 (GRCm39)	Y684C	probably damaging	Het
Dnah7a	T	C	1: 53,570,301 (GRCm39)	E1835G	probably benign	Het
F830045P16Rik	T	A	2: 129,314,812 (GRCm39)	Q155L	probably damaging	Het
Fhad1	T	C	4: 141,729,895 (GRCm39)	D36G	probably damaging	Het
Hectd4	T	C	5: 121,466,305 (GRCm39)	V2412A	probably benign	Het
Hoxa13	T	A	6: 52,235,916 (GRCm39)	K210*	probably null	Het
Hoxc5	T	C	15: 102,923,740 (GRCm39)	Y179H	probably damaging	Het
Hrob	G	A	11: 102,146,110 (GRCm39)	A129T	probably benign	Het
Htr1d	A	T	4: 136,170,866 (GRCm39)	Q365L	possibly damaging	Het
Krt72	C	T	15: 101,690,059 (GRCm39)	V253M	possibly damaging	Het
Mecom	G	A	3: 30,017,255 (GRCm39)	T470I	probably damaging	Het
Nefh	G	A	11: 4,897,549 (GRCm39)	A129V	probably damaging	Het
Nlrp2	T	A	7: 5,327,978 (GRCm39)	I692F	probably damaging	Het
Nr6a1	T	A	2: 38,762,613 (GRCm39)	I61L	probably benign	Het
Or10aa1	T	G	1: 173,870,188 (GRCm39)	V224G	probably damaging	Het
Or10j2	G	A	1: 173,098,306 (GRCm39)	C188Y	probably damaging	Het
Or5d18	A	T	2: 87,864,613 (GRCm39)	I290K	probably damaging	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pkhd1l1	T	A	15: 44,387,069 (GRCm39)	L1314*	probably null	Het
Pogz	G	A	3: 94,786,879 (GRCm39)	V1156M	probably damaging	Het
Pramel23	T	G	4: 143,424,886 (GRCm39)	I186L	probably benign	Het
Prrc2b	T	A	2: 32,102,134 (GRCm39)	C736S	probably damaging	Het
Psg18	T	A	7: 18,083,300 (GRCm39)	H285L	probably benign	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Rfx6	G	A	10: 51,599,915 (GRCm39)	V554M	probably benign	Het
Rimbp3	A	G	16: 17,027,511 (GRCm39)	T312A	probably benign	Het
Slfn5	G	A	11: 82,850,966 (GRCm39)	W421*	probably null	Het
Srcin1	A	G	11: 97,426,624 (GRCm39)	I291T	probably damaging	Het
Sult3a2	T	C	10: 33,658,069 (GRCm39)	N15D	probably damaging	Het
Tmem179	A	T	12: 112,468,301 (GRCm39)	L193Q	probably damaging	Het
Tmem200b	T	A	4: 131,649,668 (GRCm39)	L196Q	probably damaging	Het
Trim71	T	C	9: 114,342,804 (GRCm39)	T493A	possibly damaging	Het
Trp53bp2	T	A	1: 182,263,001 (GRCm39)		probably null	Het
Zbtb47	A	G	9: 121,592,334 (GRCm39)	E218G	probably benign	Het
Zbtb7c	G	A	18: 76,279,344 (GRCm39)	G601S	probably damaging	Het
Zdhhc3	A	G	9: 122,929,578 (GRCm39)	L19P	probably benign	Het
Zfp385b	G	T	2: 77,242,300 (GRCm39)	T473K	probably damaging	Het
Zfp804a	A	G	2: 82,066,172 (GRCm39)	K48E	probably 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
R8311:Copb2	UTSW	9	98,450,072 (GRCm39)	missense	possibly damaging	0.78
R8537:Copb2	UTSW	9	98,469,672 (GRCm39)	missense	probably null	0.00
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'- GACAGTGAATGTTGTGATGTAACCG -3'
(R):5'- AGATTCCTAGTCATGATATGGAAGC -3'

Sequencing Primer
(F):5'- TGGTACACATTTCACCACATGC -3'
(R):5'- CCTAGTCATGATATGGAAGCTGCTAG -3'

Posted On

2021-10-11