Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01744:Copa'

152967

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Copa

Ensembl Gene

ENSMUSG00000026553

Gene Name

coatomer protein complex subunit alpha

Synonyms

xenin

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL01744

Quality Score

Status

Chromosome

Chromosomal Location

171910096-171949897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171940756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 714 (E714G)

Ref Sequence

ENSEMBL: ENSMUSP00000118179 (fasta)

Gene Model

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

AlphaFold

Q8CIE6

Predicted Effect

probably benign
Transcript: ENSMUST00000027833
AA Change: E723G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: E723G

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

probably benign
Transcript: ENSMUST00000135192
AA Change: E714G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: E714G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142765

Coding Region Coverage

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	C	7: 12,284,459 (GRCm39)	I102T	possibly damaging	Het
4933412E24Rik	C	A	15: 59,887,424 (GRCm39)	A339S	possibly damaging	Het
Ackr2	A	G	9: 121,738,185 (GRCm39)	T187A	probably benign	Het
Adam28	A	G	14: 68,844,956 (GRCm39)	V777A	probably benign	Het
Add3	T	A	19: 53,227,861 (GRCm39)	D515E	probably damaging	Het
Aire	C	A	10: 77,872,557 (GRCm39)	E354*	probably null	Het
AW551984	T	C	9: 39,502,568 (GRCm39)	K670R	probably benign	Het
Bahcc1	T	C	11: 120,162,563 (GRCm39)	V287A	probably benign	Het
Brca1	T	C	11: 101,415,002 (GRCm39)	N1044S	possibly damaging	Het
Bub1b	T	A	2: 118,467,230 (GRCm39)	I851N	probably damaging	Het
Ceacam11	A	T	7: 17,707,323 (GRCm39)	I36F	possibly damaging	Het
Cth	A	T	3: 157,630,572 (GRCm39)	N32K	probably benign	Het
Cyp2a5	T	A	7: 26,540,434 (GRCm39)	M349K	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,966 (GRCm39)	S188G	unknown	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flt1	T	C	5: 147,508,271 (GRCm39)	N1161S	probably benign	Het
Hip1	T	C	5: 135,573,917 (GRCm39)		probably benign	Het
Mapk11	A	G	15: 89,031,046 (GRCm39)		probably benign	Het
Mtif2	A	G	11: 29,494,417 (GRCm39)		probably benign	Het
Myo1f	C	A	17: 33,802,654 (GRCm39)		probably benign	Het
Nipsnap1	G	A	11: 4,839,912 (GRCm39)	R211H	probably damaging	Het
Or52ab4	A	G	7: 102,987,435 (GRCm39)	H58R	probably damaging	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdh1	A	T	18: 38,336,302 (GRCm39)	I111N	probably damaging	Het
Piezo2	T	A	18: 63,175,859 (GRCm39)	I1841F	probably damaging	Het
Pirb	G	T	7: 3,720,175 (GRCm39)	Y399*	probably null	Het
Ppp1r36	A	T	12: 76,486,006 (GRCm39)	N388I	possibly damaging	Het
Prr16	A	G	18: 51,436,061 (GRCm39)	D180G	possibly damaging	Het
Prss39	A	G	1: 34,541,280 (GRCm39)		probably null	Het
Spopfm2	T	A	3: 94,083,544 (GRCm39)	K89M	probably damaging	Het
Trank1	T	A	9: 111,178,431 (GRCm39)	V373D	probably damaging	Het
Ubn1	A	G	16: 4,889,923 (GRCm39)	E186G	probably damaging	Het
Zmym2	T	C	14: 57,184,029 (GRCm39)	V997A	probably benign	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
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
R0568:Copa	UTSW	1	171,939,704 (GRCm39)	missense	possibly damaging	0.91
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

Posted On

2014-02-04