Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01360:Copa'

75720

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

Genbank: NM_009938; MGI: 1334462

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL01360

Quality Score

Status

Chromosome

Chromosomal Location

172082529-172122330 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 172087588 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003550] [ENSMUST00000027833] [ENSMUST00000124289] [ENSMUST00000135192] [ENSMUST00000140643] [ENSMUST00000146137]

Predicted Effect

probably null
Transcript: ENSMUST00000003550

SMART Domains

Protein: ENSMUSP00000003550
Gene: ENSMUSG00000003458

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Peptidase_M28	254	468	2.9e-7	PFAM
Pfam:Nicastrin	273	498	1.6e-94	PFAM
transmembrane domain	669	691	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000027833
AA Change: T26N

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: T26N

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

possibly damaging
Transcript: ENSMUST00000124289
AA Change: T26N

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118899
Gene: ENSMUSG00000026553
AA Change: T26N

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: ENSMUST00000126634

Predicted Effect

probably benign
Transcript: ENSMUST00000135192
AA Change: T26N

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: T26N

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: ENSMUST00000138407

Predicted Effect

probably benign
Transcript: ENSMUST00000140643

SMART Domains

Protein: ENSMUSP00000119128
Gene: ENSMUSG00000003458

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142825

Predicted Effect

probably benign
Transcript: ENSMUST00000146137

SMART Domains

Protein: ENSMUSP00000120663
Gene: ENSMUSG00000003458

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192810

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	A	G	8: 36,512,559	I439V	probably benign	Het
Abca12	T	A	1: 71,286,489	I1517L	possibly damaging	Het
Akap12	A	T	10: 4,357,537	D1449V	probably benign	Het
Alg6	T	A	4: 99,742,406	Y161N	probably benign	Het
Arhgap45	A	T	10: 80,028,648		probably benign	Het
Arhgap5	A	T	12: 52,518,240	I665F	probably damaging	Het
Bbs4	A	G	9: 59,339,848	V123A	possibly damaging	Het
Carm1	C	T	9: 21,587,302	T480I	probably benign	Het
Catsperb	G	A	12: 101,625,254	V1032M	probably damaging	Het
Cdc42bpb	A	C	12: 111,342,075	I101S	probably damaging	Het
Cramp1l	T	C	17: 24,997,573	I189V	probably damaging	Het
Dhx33	G	A	11: 70,993,861	Q40*	probably null	Het
Egf	A	T	3: 129,740,020	F57Y	probably damaging	Het
Flt4	T	C	11: 49,643,506	I1168T	probably benign	Het
Gm12794	A	T	4: 101,940,468	D21V	possibly damaging	Het
Gm14178	A	G	11: 99,747,443	S37P	unknown	Het
Gpbp1	A	T	13: 111,426,541		probably benign	Het
Herc1	T	C	9: 66,483,699	S3980P	probably benign	Het
Itga6	T	C	2: 71,787,326		probably null	Het
Itgb4	T	C	11: 115,990,940	S772P	probably damaging	Het
Kcng4	C	A	8: 119,625,677	G498V	probably benign	Het
Lrp1	T	G	10: 127,545,820	D3795A	possibly damaging	Het
Lrrk2	T	A	15: 91,700,569		probably null	Het
Mettl25	A	T	10: 105,823,197	H408Q	probably damaging	Het
Mki67	T	C	7: 135,705,776	E457G	probably damaging	Het
Mpl	G	A	4: 118,455,661	T158I	possibly damaging	Het
Mtg2	C	T	2: 180,084,077	T160I	probably damaging	Het
Mtif2	A	G	11: 29,530,110	I59V	probably benign	Het
Ncapg	C	A	5: 45,674,385	S191*	probably null	Het
Nup214	T	C	2: 32,038,178		probably benign	Het
Olfr1154	T	C	2: 87,903,527	T50A	probably benign	Het
Phf3	T	A	1: 30,808,728	T1245S	probably damaging	Het
Piezo2	T	C	18: 63,117,699	D443G	probably damaging	Het
Ptchd4	C	A	17: 42,317,045	H132Q	probably benign	Het
Pum1	T	C	4: 130,728,170		probably benign	Het
Slc30a7	A	T	3: 115,990,116	V136E	probably damaging	Het
Slc5a10	A	G	11: 61,715,136	V116A	probably damaging	Het
Sos2	A	T	12: 69,590,800	S1046T	probably benign	Het
Svep1	A	G	4: 58,116,554	S899P	possibly damaging	Het
Tfr2	G	A	5: 137,571,691	V120I	probably benign	Het
Tnfrsf18	A	T	4: 156,028,036	R117*	probably null	Het
Vmn1r77	T	G	7: 12,041,388	F30L	probably benign	Het
Vmn2r112	T	C	17: 22,618,622	M688T	probably benign	Het
Vmn2r93	T	A	17: 18,305,248	D389E	possibly damaging	Het
Zpld1	T	G	16: 55,226,385	N407T	probably benign	Het
Zranb3	C	T	1: 127,959,885	W935*	probably null	Het
Zyx	G	A	6: 42,350,444	R59Q	probably damaging	Het

Other mutations in Copa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Copa	APN	1	172110688	missense	possibly damaging	0.87
IGL01434:Copa	APN	1	172119561	missense	probably benign	0.00
IGL01744:Copa	APN	1	172113189	missense	probably benign	0.01
IGL01837:Copa	APN	1	172118852	missense	probably benign	0.01
IGL01988:Copa	APN	1	172118264	missense	probably benign	0.09
IGL02059:Copa	APN	1	172099753	missense	probably damaging	0.96
IGL02123:Copa	APN	1	172112128	missense	probably damaging	1.00
IGL02731:Copa	APN	1	172102218	missense	possibly damaging	0.77
IGL03114:Copa	APN	1	172119268	nonsense	probably null
P0027:Copa	UTSW	1	172111948	missense	possibly damaging	0.87
PIT4434001:Copa	UTSW	1	172106175	missense	probably benign	0.00
R0233:Copa	UTSW	1	172087667	critical splice donor site	probably null
R0465:Copa	UTSW	1	172118305	missense	probably damaging	1.00
R0547:Copa	UTSW	1	172121687	splice site	probably benign
R0568:Copa	UTSW	1	172112137	missense	possibly damaging	0.91
R0628:Copa	UTSW	1	172091025	splice site	probably benign
R1328:Copa	UTSW	1	172121691	splice site	probably benign
R1494:Copa	UTSW	1	172104127	missense	probably benign	0.27
R1728:Copa	UTSW	1	172111987	missense	probably benign
R1758:Copa	UTSW	1	172104144	missense	probably damaging	1.00
R1784:Copa	UTSW	1	172111987	missense	probably benign
R1942:Copa	UTSW	1	172111888	missense	probably damaging	1.00
R2054:Copa	UTSW	1	172118957	nonsense	probably null
R2299:Copa	UTSW	1	172121725	missense	probably benign	0.10
R2518:Copa	UTSW	1	172119901	missense	probably benign
R2680:Copa	UTSW	1	172121404	nonsense	probably null
R3080:Copa	UTSW	1	172113149	missense	probably damaging	1.00
R3160:Copa	UTSW	1	172091233	missense	probably damaging	1.00
R3161:Copa	UTSW	1	172091233	missense	probably damaging	1.00
R3162:Copa	UTSW	1	172091233	missense	probably damaging	1.00
R3162:Copa	UTSW	1	172091233	missense	probably damaging	1.00
R3973:Copa	UTSW	1	172121245	missense	probably benign	0.00
R3975:Copa	UTSW	1	172121245	missense	probably benign	0.00
R4031:Copa	UTSW	1	172108375	missense	probably damaging	1.00
R4155:Copa	UTSW	1	172101425	missense	probably damaging	1.00
R4227:Copa	UTSW	1	172118115	intron	probably benign
R4244:Copa	UTSW	1	172110718	missense	probably benign	0.00
R4254:Copa	UTSW	1	172102244	missense	probably damaging	1.00
R4291:Copa	UTSW	1	172092397	intron	probably benign
R4323:Copa	UTSW	1	172119264	missense	probably damaging	1.00
R4402:Copa	UTSW	1	172102224	missense	probably damaging	1.00
R4711:Copa	UTSW	1	172119988	missense	probably damaging	1.00
R4721:Copa	UTSW	1	172104274	splice site	probably benign
R4773:Copa	UTSW	1	172105220	missense	probably damaging	1.00
R4794:Copa	UTSW	1	172119321	missense	probably damaging	1.00
R4887:Copa	UTSW	1	172092276	missense	probably benign	0.39
R4953:Copa	UTSW	1	172082886	unclassified	probably benign
R5139:Copa	UTSW	1	172121329	missense	probably damaging	0.99
R5152:Copa	UTSW	1	172118061	missense	probably benign	0.34
R5297:Copa	UTSW	1	172113108	missense	probably damaging	1.00
R5586:Copa	UTSW	1	172105222	missense	probably damaging	1.00
R5698:Copa	UTSW	1	172118944	nonsense	probably null
R6283:Copa	UTSW	1	172118848	missense	possibly damaging	0.79
R6921:Copa	UTSW	1	172111924	missense	possibly damaging	0.63
R6934:Copa	UTSW	1	172110686	missense	possibly damaging	0.64
R7009:Copa	UTSW	1	172091000	missense	probably damaging	0.96
R7194:Copa	UTSW	1	172119944	missense	probably damaging	0.99
R7348:Copa	UTSW	1	172102223	missense	possibly damaging	0.96
R7710:Copa	UTSW	1	172109844	missense	possibly damaging	0.50
R7745:Copa	UTSW	1	172111942	missense	probably damaging	1.00
R7893:Copa	UTSW	1	172119565	nonsense	probably null
R7976:Copa	UTSW	1	172119565	nonsense	probably null
T0722:Copa	UTSW	1	172111948	missense	possibly damaging	0.87
Z1177:Copa	UTSW	1	172106123	frame shift	probably null

Posted On

2013-10-07