Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01837:Copa'

154995

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 #

IGL01837

Quality Score

Status

Chromosome

Chromosomal Location

171910096-171949897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 171946419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 954 (D954E)

Ref Sequence

ENSEMBL: ENSMUSP00000027833 (fasta)

Gene Model

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

AlphaFold

Q8CIE6

Predicted Effect

probably benign
Transcript: ENSMUST00000027833
AA Change: D954E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: D954E

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

noncoding transcript
Transcript: ENSMUST00000133909

Predicted Effect

probably benign
Transcript: ENSMUST00000135192
AA Change: D945E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: D945E

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,627,671 (GRCm39)	F1372L	probably damaging	Het
Alcam	T	A	16: 52,073,531 (GRCm39)	N339I	probably benign	Het
Ankrd35	A	C	3: 96,587,982 (GRCm39)	D141A	probably damaging	Het
Apc2	A	G	10: 80,150,492 (GRCm39)	I1820V	probably benign	Het
Ccp110	T	A	7: 118,324,684 (GRCm39)		probably null	Het
Csmd2	A	T	4: 128,313,363 (GRCm39)	I1347F	possibly damaging	Het
Ddx10	A	G	9: 53,140,498 (GRCm39)	I301T	probably benign	Het
Defb23	T	A	2: 152,301,294 (GRCm39)	M93L	probably benign	Het
Dnah8	T	C	17: 30,970,565 (GRCm39)		probably null	Het
Dok3	T	C	13: 55,671,383 (GRCm39)	E396G	probably damaging	Het
Eml6	T	A	11: 29,727,055 (GRCm39)	M1318L	probably benign	Het
Foxm1	T	A	6: 128,343,167 (GRCm39)		probably benign	Het
Gm11992	A	T	11: 9,011,266 (GRCm39)	R236W	probably damaging	Het
Greb1	T	C	12: 16,734,452 (GRCm39)	I1513V	probably benign	Het
Hivep3	A	G	4: 119,951,759 (GRCm39)	E25G	possibly damaging	Het
Ighg2b	C	T	12: 113,270,065 (GRCm39)	E318K	unknown	Het
Itga4	T	C	2: 79,145,349 (GRCm39)	S722P	probably damaging	Het
Kirrel3	G	A	9: 34,946,224 (GRCm39)	R617H	probably damaging	Het
Mboat1	A	T	13: 30,425,166 (GRCm39)	H409L	possibly damaging	Het
Naa15	A	T	3: 51,351,369 (GRCm39)	K180*	probably null	Het
Nccrp1	A	G	7: 28,246,191 (GRCm39)	S124P	probably damaging	Het
Nphp4	T	C	4: 152,573,338 (GRCm39)	I92T	probably damaging	Het
Or13a28	G	A	7: 140,218,124 (GRCm39)	C170Y	probably damaging	Het
Or6d14	C	A	6: 116,533,807 (GRCm39)	Y140*	probably null	Het
Pkd1l3	A	G	8: 110,356,798 (GRCm39)	D741G	possibly damaging	Het
Plcb2	C	T	2: 118,542,407 (GRCm39)		probably null	Het
Pramel19	A	G	4: 101,798,650 (GRCm39)	E207G	probably damaging	Het
Prm2	G	A	16: 10,609,775 (GRCm39)		probably null	Het
R3hdm1	C	T	1: 128,114,497 (GRCm39)	Q184*	probably null	Het
Rgl1	A	T	1: 152,424,901 (GRCm39)	N359K	probably damaging	Het
Rnf44	A	G	13: 54,829,966 (GRCm39)	Y366H	probably damaging	Het
Rpap2	G	A	5: 107,773,835 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,631,665 (GRCm39)	N2120S	probably damaging	Het
Samd8	A	G	14: 21,825,027 (GRCm39)		probably benign	Het
Sipa1	G	T	19: 5,702,099 (GRCm39)	T937K	probably damaging	Het
Sos1	A	T	17: 80,730,157 (GRCm39)	D707E	probably damaging	Het
Tas2r109	T	C	6: 132,957,477 (GRCm39)	N151S	probably benign	Het
Try5	T	C	6: 41,290,358 (GRCm39)	N42S	probably benign	Het
Ttn	G	T	2: 76,732,338 (GRCm39)		probably benign	Het
Utp14b	A	G	1: 78,642,636 (GRCm39)	E178G	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
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