Mutagenetix > Incidental Mutation

Incidental Mutation 'R9425:Copb1'

712570

Institutional Source

Beutler Lab

Gene Symbol

Copb1

Ensembl Gene

ENSMUSG00000030754

Gene Name

coatomer protein complex, subunit beta 1

Synonyms

2610019B04Rik, Copb1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113814794-113853915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113848182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 118 (G118R)

Ref Sequence

ENSEMBL: ENSMUSP00000033012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033012]

AlphaFold

Q9JIF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000033012
AA Change: G118R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: G118R

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	19	539	2.4e-124	PFAM
low complexity region	643	660	N/A	INTRINSIC
Pfam:Coatamer_beta_C	667	807	3.6e-63	PFAM
Pfam:Coatomer_b_Cpla	813	944	3.1e-65	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,926,344 (GRCm39)	S1260T	probably damaging	Het
Adgra2	A	G	8: 27,576,094 (GRCm39)	I41V	probably benign	Het
Adgrf1	A	G	17: 43,621,274 (GRCm39)	I504V	possibly damaging	Het
Agtrap	A	G	4: 148,165,019 (GRCm39)	I136T	probably damaging	Het
Arhgef7	C	T	8: 11,867,736 (GRCm39)	T601I	probably damaging	Het
Asb7	T	C	7: 66,328,987 (GRCm39)	I18V	possibly damaging	Het
C1rl	T	C	6: 124,485,322 (GRCm39)	V231A	probably benign	Het
Cachd1	A	T	4: 100,832,057 (GRCm39)	T740S	probably benign	Het
Ccdc146	T	A	5: 21,508,135 (GRCm39)	I638F	probably damaging	Het
Ccser2	T	C	14: 36,601,163 (GRCm39)	N407S	probably benign	Het
Clec7a	G	A	6: 129,442,514 (GRCm39)	S126L	probably damaging	Het
Cpne3	A	T	4: 19,525,148 (GRCm39)	M449K	probably damaging	Het
Cttnbp2	A	T	6: 18,423,880 (GRCm39)	C815S	probably damaging	Het
Cyp27b1	T	C	10: 126,886,006 (GRCm39)	L253P	probably damaging	Het
Cyp3a44	C	A	5: 145,740,548 (GRCm39)	G31*	probably null	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dmgdh	A	T	13: 93,880,813 (GRCm39)	I748L	probably benign	Het
Drc1	T	A	5: 30,502,938 (GRCm39)	W154R	probably benign	Het
E330034G19Rik	T	A	14: 24,358,387 (GRCm39)		probably null	Het
Gbp7	T	A	3: 142,248,718 (GRCm39)	V327E	probably damaging	Het
Gm11564	G	A	11: 99,706,065 (GRCm39)	P122S	unknown	Het
Grid2ip	C	A	5: 143,367,435 (GRCm39)	S615R		Het
Kcp	T	A	6: 29,489,151 (GRCm39)	Q1045L	probably benign	Het
Lgals3bp	T	A	11: 118,284,751 (GRCm39)	E276V	probably damaging	Het
Lrit1	T	C	14: 36,784,208 (GRCm39)	V512A	possibly damaging	Het
Mecom	T	A	3: 30,039,597 (GRCm39)	H154L	probably benign	Het
Mmp14	C	A	14: 54,677,804 (GRCm39)	T475K	probably damaging	Het
Mmp1a	T	G	9: 7,476,210 (GRCm39)	F436V	probably damaging	Het
Notch4	A	G	17: 34,795,801 (GRCm39)	S830G	probably benign	Het
Oas1b	T	C	5: 120,955,693 (GRCm39)	L158P	probably benign	Het
Odf4	A	G	11: 68,813,810 (GRCm39)	V126A	probably benign	Het
Olfml2a	A	G	2: 38,847,721 (GRCm39)	T427A	probably damaging	Het
Or2b28	A	G	13: 21,531,473 (GRCm39)	Y125C	probably damaging	Het
Or4c102	C	A	2: 88,422,877 (GRCm39)	T243K	probably damaging	Het
Or5b121	C	T	19: 13,507,222 (GRCm39)	L106F	probably damaging	Het
Or6d12	G	A	6: 116,493,574 (GRCm39)	E279K	possibly damaging	Het
Or8b42	A	G	9: 38,342,286 (GRCm39)	K236R	possibly damaging	Het
Panx3	G	A	9: 37,572,393 (GRCm39)	H386Y	probably benign	Het
Papss1	C	A	3: 131,270,708 (GRCm39)	C8*	probably null	Het
Papss2	G	T	19: 32,615,750 (GRCm39)	V161L	possibly damaging	Het
Pcdh18	G	T	3: 49,709,051 (GRCm39)	H755N	possibly damaging	Het
Pilrb2	G	C	5: 137,866,964 (GRCm39)	H180D	probably benign	Het
Pla2g4f	T	C	2: 120,133,264 (GRCm39)	D645G	possibly damaging	Het
Pnlip	A	T	19: 58,669,290 (GRCm39)	K430*	probably null	Het
Ralbp1	C	A	17: 66,171,506 (GRCm39)	A156S	possibly damaging	Het
Rnf4	C	T	5: 34,508,641 (GRCm39)	R168C	probably benign	Het
Slc17a5	C	T	9: 78,484,457 (GRCm39)	G127E	probably damaging	Het
Slc22a27	A	T	19: 7,874,156 (GRCm39)	N306K	probably damaging	Het
Slc5a9	G	A	4: 111,734,803 (GRCm39)	R664C	probably damaging	Het
Slco1b2	T	A	6: 141,603,249 (GRCm39)	I210K	possibly damaging	Het
Snx16	C	T	3: 10,499,520 (GRCm39)	R170H	probably damaging	Het
Speer4e1	T	C	5: 14,987,136 (GRCm39)	I90V	possibly damaging	Het
Stxbp5l	T	C	16: 36,994,706 (GRCm39)	D733G	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,382 (GRCm39)	V254A	probably benign	Het
Tmf1	A	G	6: 97,149,293 (GRCm39)	F485L	probably benign	Het
Tnks	G	A	8: 35,340,819 (GRCm39)	L396F	probably damaging	Het
Trabd	T	C	15: 88,969,496 (GRCm39)	C230R	probably damaging	Het
Trp53rkb	C	T	2: 166,637,542 (GRCm39)	A166V	probably benign	Het
Upf1	A	T	8: 70,792,003 (GRCm39)	D418E	probably benign	Het
Ust	A	C	10: 8,205,873 (GRCm39)	S137A	probably damaging	Het
Zfp513	T	A	5: 31,357,695 (GRCm39)	H228L	possibly damaging	Het
Zfp827	C	A	8: 79,905,588 (GRCm39)	A855E	probably damaging	Het

Other mutations in Copb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Copb1	APN	7	113,826,011 (GRCm39)	missense	probably benign	0.00
IGL02458:Copb1	APN	7	113,846,020 (GRCm39)	missense	probably benign	0.00
IGL02549:Copb1	APN	7	113,846,032 (GRCm39)	missense	probably benign	0.00
IGL02639:Copb1	APN	7	113,825,830 (GRCm39)	splice site	probably benign
robbers	UTSW	7	113,848,211 (GRCm39)	missense	probably damaging	1.00
R0012:Copb1	UTSW	7	113,836,643 (GRCm39)	missense	probably damaging	0.99
R0012:Copb1	UTSW	7	113,836,643 (GRCm39)	missense	probably damaging	0.99
R0023:Copb1	UTSW	7	113,849,329 (GRCm39)	missense	probably benign	0.26
R0631:Copb1	UTSW	7	113,832,517 (GRCm39)	missense	probably benign	0.12
R1996:Copb1	UTSW	7	113,831,438 (GRCm39)	missense	probably benign	0.00
R2256:Copb1	UTSW	7	113,853,110 (GRCm39)	missense	possibly damaging	0.89
R2257:Copb1	UTSW	7	113,853,110 (GRCm39)	missense	possibly damaging	0.89
R3853:Copb1	UTSW	7	113,822,551 (GRCm39)	missense	probably damaging	1.00
R4679:Copb1	UTSW	7	113,848,211 (GRCm39)	missense	probably damaging	1.00
R4686:Copb1	UTSW	7	113,820,971 (GRCm39)	missense	possibly damaging	0.94
R5057:Copb1	UTSW	7	113,825,997 (GRCm39)	missense	probably benign
R5140:Copb1	UTSW	7	113,846,035 (GRCm39)	missense	probably benign	0.01
R5669:Copb1	UTSW	7	113,836,820 (GRCm39)	missense	probably damaging	1.00
R5779:Copb1	UTSW	7	113,818,807 (GRCm39)	missense	probably damaging	1.00
R6017:Copb1	UTSW	7	113,836,032 (GRCm39)	missense	probably benign	0.07
R6114:Copb1	UTSW	7	113,846,036 (GRCm39)	missense	probably benign	0.00
R6403:Copb1	UTSW	7	113,837,686 (GRCm39)	missense	probably damaging	1.00
R6826:Copb1	UTSW	7	113,825,954 (GRCm39)	missense	probably benign	0.00
R6905:Copb1	UTSW	7	113,853,125 (GRCm39)	missense	probably benign	0.00
R7241:Copb1	UTSW	7	113,836,591 (GRCm39)	missense	probably damaging	0.96
R7293:Copb1	UTSW	7	113,818,837 (GRCm39)	missense	probably damaging	1.00
R7485:Copb1	UTSW	7	113,844,720 (GRCm39)	missense	possibly damaging	0.94
R8103:Copb1	UTSW	7	113,834,202 (GRCm39)	missense	possibly damaging	0.67
R8427:Copb1	UTSW	7	113,825,989 (GRCm39)	missense	probably benign	0.03
R8690:Copb1	UTSW	7	113,849,463 (GRCm39)	missense	probably benign	0.02
R8843:Copb1	UTSW	7	113,820,935 (GRCm39)	missense	possibly damaging	0.81
R9405:Copb1	UTSW	7	113,822,458 (GRCm39)	missense	possibly damaging	0.78
R9513:Copb1	UTSW	7	113,831,432 (GRCm39)	missense	probably benign	0.00
R9563:Copb1	UTSW	7	113,836,034 (GRCm39)	missense	possibly damaging	0.73
R9564:Copb1	UTSW	7	113,836,034 (GRCm39)	missense	possibly damaging	0.73
R9566:Copb1	UTSW	7	113,825,997 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGGATCCTCCCTTACCTGTAG -3'
(R):5'- GGTAAAGAGAGTTTGACTCCCAGG -3'

Sequencing Primer
(F):5'- ACCTGTAGATGGTATAGATCCTCC -3'
(R):5'- GGATCCACTGATTCCTGCAAG -3'

Posted On

2022-05-16