Mutagenetix > Incidental Mutation

Incidental Mutation 'R0568:Copa'

46243

Institutional Source

Beutler Lab

Gene Symbol

Copa

Ensembl Gene

ENSMUSG00000026553

Gene Name

coatomer protein complex subunit alpha

Synonyms

xenin

MMRRC Submission

038759-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R0568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171910096-171949897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171939704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 624 (V624A)

Ref Sequence

ENSEMBL: ENSMUSP00000027833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027833] [ENSMUST00000124289] [ENSMUST00000135192]

AlphaFold

Q8CIE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027833
AA Change: V624A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: V624A

Domain	Start	End	E-Value	Type
WD40	2	37	2.86e0	SMART
WD40	40	79	1.11e-6	SMART
WD40	82	121	4.76e-6	SMART
WD40	124	163	2.24e-11	SMART
WD40	194	233	2.98e-7	SMART
WD40	238	277	8.42e-7	SMART
WD40	280	318	1.38e1	SMART
Pfam:Coatomer_WDAD	338	776	5.4e-144	PFAM
Pfam:COPI_C	824	1233	1.4e-190	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122845

Predicted Effect

probably benign
Transcript: ENSMUST00000124289

SMART Domains

Protein: ENSMUSP00000118899
Gene: ENSMUSG00000026553

Domain	Start	End	E-Value	Type
Blast:WD40	1	37	2e-19	BLAST
PDB:4J8G\|B	1	52	2e-23	PDB
SCOP:d1erja_	1	52	1e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133909

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135192
AA Change: V615A

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: V615A

Domain	Start	End	E-Value	Type
WD40	2	37	2.86e0	SMART
WD40	40	79	1.11e-6	SMART
WD40	82	121	4.76e-6	SMART
WD40	124	163	2.24e-11	SMART
WD40	194	233	2.98e-7	SMART
WD40	238	277	8.42e-7	SMART
WD40	280	318	1.38e1	SMART
Pfam:Coatomer_WDAD	338	767	1.1e-148	PFAM
Pfam:COPI_C	815	1224	3.6e-216	PFAM

Meta Mutation Damage Score

0.3362

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

100% (38/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	G	A	4: 49,451,003 (GRCm39)	T36I	possibly damaging	Het
Adamts20	T	C	15: 94,189,594 (GRCm39)		probably benign	Het
Adamtsl1	T	C	4: 86,336,789 (GRCm39)	L1558S	probably damaging	Het
Ap3b2	A	G	7: 81,114,377 (GRCm39)		probably null	Het
Bag2	T	C	1: 33,786,059 (GRCm39)	M88V	probably benign	Het
Brms1l	A	G	12: 55,908,173 (GRCm39)		probably null	Het
C8b	A	G	4: 104,650,577 (GRCm39)	I462V	probably benign	Het
Cfap410	C	T	10: 77,818,872 (GRCm39)	T181I	possibly damaging	Het
Cfap410	A	T	10: 77,820,381 (GRCm39)	*250C	probably null	Het
Cnpy4	A	G	5: 138,190,839 (GRCm39)	E167G	probably damaging	Het
Gm4553	G	T	7: 141,719,357 (GRCm39)	P24T	unknown	Het
Gna12	A	G	5: 140,746,638 (GRCm39)	V269A	possibly damaging	Het
Gtf2ird2	G	T	5: 134,240,083 (GRCm39)	E302*	probably null	Het
Hmcn2	C	A	2: 31,305,248 (GRCm39)	S3140R	probably benign	Het
Hspa4	A	G	11: 53,153,703 (GRCm39)		probably benign	Het
Hspbp1	A	T	7: 4,687,431 (GRCm39)	L60*	probably null	Het
Lats1	A	T	10: 7,588,292 (GRCm39)	I970F	possibly damaging	Het
Lipo3	T	C	19: 33,559,442 (GRCm39)		probably benign	Het
Lrrc3	T	A	10: 77,737,419 (GRCm39)	R6W	probably damaging	Het
Lxn	C	T	3: 67,368,335 (GRCm39)	A143T	probably damaging	Het
Mga	T	C	2: 119,765,903 (GRCm39)	I1390T	probably damaging	Het
Ncapg2	T	A	12: 116,386,835 (GRCm39)	I286N	probably damaging	Het
Or4c107	T	A	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Pitpnm2	A	G	5: 124,278,580 (GRCm39)		probably benign	Het
Plxna2	T	C	1: 194,433,694 (GRCm39)	V581A	probably benign	Het
Polr3d	A	T	14: 70,676,959 (GRCm39)	H378Q	possibly damaging	Het
Ptpn13	T	C	5: 103,637,631 (GRCm39)	V173A	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Syngr3	C	T	17: 24,905,555 (GRCm39)	A140T	probably benign	Het
Tent2	A	G	13: 93,291,500 (GRCm39)	S381P	probably benign	Het
Tprn	T	C	2: 25,154,333 (GRCm39)	V545A	probably damaging	Het
Trim66	T	C	7: 109,059,902 (GRCm39)	H828R	probably benign	Het
Ugt2b5	G	A	5: 87,285,224 (GRCm39)		probably benign	Het
Vps9d1	A	G	8: 123,973,487 (GRCm39)	V432A	probably damaging	Het
Zswim9	A	T	7: 12,994,952 (GRCm39)	D401E	probably damaging	Het

Other mutations in Copa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Copa	APN	1	171,938,255 (GRCm39)	missense	possibly damaging	0.87
IGL01360:Copa	APN	1	171,915,155 (GRCm39)	splice site	probably null
IGL01434:Copa	APN	1	171,947,128 (GRCm39)	missense	probably benign	0.00
IGL01744:Copa	APN	1	171,940,756 (GRCm39)	missense	probably benign	0.01
IGL01837:Copa	APN	1	171,946,419 (GRCm39)	missense	probably benign	0.01
IGL01988:Copa	APN	1	171,945,831 (GRCm39)	missense	probably benign	0.09
IGL02059:Copa	APN	1	171,927,320 (GRCm39)	missense	probably damaging	0.96
IGL02123:Copa	APN	1	171,939,695 (GRCm39)	missense	probably damaging	1.00
IGL02731:Copa	APN	1	171,929,785 (GRCm39)	missense	possibly damaging	0.77
IGL03114:Copa	APN	1	171,946,835 (GRCm39)	nonsense	probably null
P0027:Copa	UTSW	1	171,939,515 (GRCm39)	missense	possibly damaging	0.87
PIT4434001:Copa	UTSW	1	171,933,742 (GRCm39)	missense	probably benign	0.00
R0233:Copa	UTSW	1	171,915,234 (GRCm39)	critical splice donor site	probably null
R0465:Copa	UTSW	1	171,945,872 (GRCm39)	missense	probably damaging	1.00
R0547:Copa	UTSW	1	171,949,254 (GRCm39)	splice site	probably benign
R0628:Copa	UTSW	1	171,918,592 (GRCm39)	splice site	probably benign
R1328:Copa	UTSW	1	171,949,258 (GRCm39)	splice site	probably benign
R1494:Copa	UTSW	1	171,931,694 (GRCm39)	missense	probably benign	0.27
R1728:Copa	UTSW	1	171,939,554 (GRCm39)	missense	probably benign
R1758:Copa	UTSW	1	171,931,711 (GRCm39)	missense	probably damaging	1.00
R1784:Copa	UTSW	1	171,939,554 (GRCm39)	missense	probably benign
R1942:Copa	UTSW	1	171,939,455 (GRCm39)	missense	probably damaging	1.00
R2054:Copa	UTSW	1	171,946,524 (GRCm39)	nonsense	probably null
R2299:Copa	UTSW	1	171,949,292 (GRCm39)	missense	probably benign	0.10
R2518:Copa	UTSW	1	171,947,468 (GRCm39)	missense	probably benign
R2680:Copa	UTSW	1	171,948,971 (GRCm39)	nonsense	probably null
R3080:Copa	UTSW	1	171,940,716 (GRCm39)	missense	probably damaging	1.00
R3160:Copa	UTSW	1	171,918,800 (GRCm39)	missense	probably damaging	1.00
R3161:Copa	UTSW	1	171,918,800 (GRCm39)	missense	probably damaging	1.00
R3162:Copa	UTSW	1	171,918,800 (GRCm39)	missense	probably damaging	1.00
R3162:Copa	UTSW	1	171,918,800 (GRCm39)	missense	probably damaging	1.00
R3973:Copa	UTSW	1	171,948,812 (GRCm39)	missense	probably benign	0.00
R3975:Copa	UTSW	1	171,948,812 (GRCm39)	missense	probably benign	0.00
R4031:Copa	UTSW	1	171,935,942 (GRCm39)	missense	probably damaging	1.00
R4155:Copa	UTSW	1	171,928,992 (GRCm39)	missense	probably damaging	1.00
R4227:Copa	UTSW	1	171,945,682 (GRCm39)	intron	probably benign
R4244:Copa	UTSW	1	171,938,285 (GRCm39)	missense	probably benign	0.00
R4254:Copa	UTSW	1	171,929,811 (GRCm39)	missense	probably damaging	1.00
R4291:Copa	UTSW	1	171,919,964 (GRCm39)	intron	probably benign
R4323:Copa	UTSW	1	171,946,831 (GRCm39)	missense	probably damaging	1.00
R4402:Copa	UTSW	1	171,929,791 (GRCm39)	missense	probably damaging	1.00
R4711:Copa	UTSW	1	171,947,555 (GRCm39)	missense	probably damaging	1.00
R4721:Copa	UTSW	1	171,931,841 (GRCm39)	splice site	probably benign
R4773:Copa	UTSW	1	171,932,787 (GRCm39)	missense	probably damaging	1.00
R4794:Copa	UTSW	1	171,946,888 (GRCm39)	missense	probably damaging	1.00
R4887:Copa	UTSW	1	171,919,843 (GRCm39)	missense	probably benign	0.39
R4953:Copa	UTSW	1	171,910,453 (GRCm39)	unclassified	probably benign
R5139:Copa	UTSW	1	171,948,896 (GRCm39)	missense	probably damaging	0.99
R5152:Copa	UTSW	1	171,945,628 (GRCm39)	missense	probably benign	0.34
R5297:Copa	UTSW	1	171,940,675 (GRCm39)	missense	probably damaging	1.00
R5586:Copa	UTSW	1	171,932,789 (GRCm39)	missense	probably damaging	1.00
R5698:Copa	UTSW	1	171,946,511 (GRCm39)	nonsense	probably null
R6283:Copa	UTSW	1	171,946,415 (GRCm39)	missense	possibly damaging	0.79
R6921:Copa	UTSW	1	171,939,491 (GRCm39)	missense	possibly damaging	0.63
R6934:Copa	UTSW	1	171,938,253 (GRCm39)	missense	possibly damaging	0.64
R7009:Copa	UTSW	1	171,918,567 (GRCm39)	missense	probably damaging	0.96
R7194:Copa	UTSW	1	171,947,511 (GRCm39)	missense	probably damaging	0.99
R7348:Copa	UTSW	1	171,929,790 (GRCm39)	missense	possibly damaging	0.96
R7710:Copa	UTSW	1	171,937,411 (GRCm39)	missense	possibly damaging	0.50
R7745:Copa	UTSW	1	171,939,509 (GRCm39)	missense	probably damaging	1.00
R7893:Copa	UTSW	1	171,947,132 (GRCm39)	nonsense	probably null
R8168:Copa	UTSW	1	171,927,239 (GRCm39)	missense	probably damaging	1.00
R8273:Copa	UTSW	1	171,946,546 (GRCm39)	critical splice donor site	probably null
R8704:Copa	UTSW	1	171,931,693 (GRCm39)	missense	probably benign	0.01
R8754:Copa	UTSW	1	171,935,926 (GRCm39)	missense	probably damaging	1.00
R8757:Copa	UTSW	1	171,947,081 (GRCm39)	missense	probably benign	0.04
R8759:Copa	UTSW	1	171,947,081 (GRCm39)	missense	probably benign	0.04
R8885:Copa	UTSW	1	171,925,312 (GRCm39)	missense	probably damaging	1.00
R8891:Copa	UTSW	1	171,946,818 (GRCm39)	missense	probably damaging	1.00
R8927:Copa	UTSW	1	171,931,737 (GRCm39)	missense	probably null	0.03
R8928:Copa	UTSW	1	171,931,737 (GRCm39)	missense	probably null	0.03
R8956:Copa	UTSW	1	171,937,480 (GRCm39)	missense	possibly damaging	0.65
R9063:Copa	UTSW	1	171,944,529 (GRCm39)	missense	probably benign	0.00
R9295:Copa	UTSW	1	171,939,823 (GRCm39)	missense	probably damaging	0.99
R9364:Copa	UTSW	1	171,944,831 (GRCm39)	missense	probably benign	0.00
R9437:Copa	UTSW	1	171,931,712 (GRCm39)	missense	possibly damaging	0.93
R9673:Copa	UTSW	1	171,945,648 (GRCm39)	missense	probably benign	0.11
T0722:Copa	UTSW	1	171,939,515 (GRCm39)	missense	possibly damaging	0.87
Z1177:Copa	UTSW	1	171,933,690 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGCCTAGACAGAGAGTGTCGTC -3'
(R):5'- ACATTAGGTTACGCTGGTCCCGAG -3'

Sequencing Primer
(F):5'- CCTCGGGTGCTAACCATTG -3'
(R):5'- CTGGTCCCGAGCCTTCC -3'

Posted On

2013-06-11