Mutagenetix > Incidental Mutations

Incidental Mutation 'R4291:Copa'

323044

Institutional Source

Beutler Lab

Gene Symbol

Copa

Ensembl Gene

ENSMUSG00000026553

Gene Name

coatomer protein complex subunit alpha

Synonyms

xenin

MMRRC Submission

041081-MU

Accession Numbers

Genbank: NM_009938; MGI: 1334462

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R4291 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172082529-172122330 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 172092397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118179 (fasta)

Gene Model

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

AlphaFold

Q8CIE6

Predicted Effect

probably benign
Transcript: ENSMUST00000027833

SMART Domains

Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553

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

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: ENSMUST00000126634

Predicted Effect

probably benign
Transcript: ENSMUST00000135192

SMART Domains

Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553

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

noncoding transcript
Transcript: ENSMUST00000150298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192810

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (62/62)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,066,188	F27S	probably benign	Het
AK157302	T	A	13: 21,495,545	D80E	probably damaging	Het
Amz2	T	C	11: 109,434,055		probably null	Het
Angel1	A	G	12: 86,720,283	Y440H	probably damaging	Het
Ankrd34c	T	A	9: 89,729,764	K175*	probably null	Het
Arid1b	C	A	17: 5,040,663	S546R	probably damaging	Het
Atf6b	T	A	17: 34,652,674	M428K	probably benign	Het
Brpf3	G	A	17: 28,823,975	V997M	probably benign	Het
Cckar	A	G	5: 53,706,497	S41P	probably benign	Het
Cd96	T	A	16: 46,071,749	Q292L	probably damaging	Het
Cdh18	C	A	15: 22,714,551		probably benign	Het
Cfb	T	G	17: 34,861,138	D122A	possibly damaging	Het
Ctnna2	T	A	6: 76,882,745	K854N	probably damaging	Het
Cwh43	G	A	5: 73,411,932	V106M	probably benign	Het
Dact2	C	T	17: 14,196,571	E456K	probably benign	Het
Dnah8	T	C	17: 30,748,559	S2582P	probably benign	Het
Eef2	A	G	10: 81,179,580	T312A	probably benign	Het
Enpep	T	A	3: 129,270,317	R934*	probably null	Het
Fam240b	A	T	13: 64,481,813	M63K	possibly damaging	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Gm6124	A	T	7: 39,222,771		noncoding transcript	Het
Gsn	G	A	2: 35,290,420	V147I	probably benign	Het
Gucy1a1	A	T	3: 82,094,759	F671Y	possibly damaging	Het
Hectd3	A	G	4: 116,995,692	E97G	probably damaging	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Krba1	C	T	6: 48,415,665	P802S	possibly damaging	Het
Lca5l	C	T	16: 96,178,774	S52N	probably damaging	Het
Lmf1	T	C	17: 25,654,481	L320P	probably damaging	Het
Map3k4	G	T	17: 12,255,260	Q845K	probably benign	Het
Mapkapk3	T	C	9: 107,258,932		probably benign	Het
Mccc1	A	G	3: 35,990,068	V203A	probably damaging	Het
Mcm9	C	A	10: 53,547,572	M677I	probably benign	Het
Mkrn2	A	G	6: 115,617,434	T369A	possibly damaging	Het
Mthfr	C	A	4: 148,055,492	N623K	probably damaging	Het
Myh2	T	C	11: 67,181,159	V571A	probably benign	Het
Nom1	G	A	5: 29,446,372		probably null	Het
Nucb1	T	A	7: 45,495,280	D283V	probably damaging	Het
Olfr1120	G	A	2: 87,358,075	M210I	probably benign	Het
Olfr1396	T	A	11: 49,113,427	I100L	probably benign	Het
Olfr310	A	T	7: 86,269,760	F10I	probably damaging	Het
Pcdhb1	A	C	18: 37,265,417	L140F	probably damaging	Het
Ptgs2	G	A	1: 150,100,251	A10T	probably benign	Het
Rfx3	C	T	19: 27,800,232	R497Q	probably damaging	Het
Rps6kb1	A	T	11: 86,519,876		probably benign	Het
Slc22a21	T	C	11: 53,969,503	D34G	probably damaging	Het
Spata13	T	A	14: 60,709,555	M684K	probably damaging	Het
Tet3	T	C	6: 83,373,199	T961A	probably damaging	Het
Ttc27	T	C	17: 74,856,479	L694P	probably damaging	Het
Vmn1r238	G	A	18: 3,123,214	Q67*	probably null	Het
Vmn2r101	A	T	17: 19,612,041	R766S	probably damaging	Het
Vwf	A	T	6: 125,642,322	Y1321F	probably damaging	Het
Wfdc1	C	A	8: 119,679,455	P103Q	probably damaging	Het
Zfp488	C	A	14: 33,970,894	C104F	possibly 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
IGL01360:Copa	APN	1	172087588	splice site	probably null
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
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
R8168:Copa	UTSW	1	172099672	missense	probably damaging	1.00
R8273:Copa	UTSW	1	172118979	critical splice donor site	probably null
R8704:Copa	UTSW	1	172104126	missense	probably benign	0.01
R8754:Copa	UTSW	1	172108359	missense	probably damaging	1.00
R8757:Copa	UTSW	1	172119514	missense	probably benign	0.04
R8759:Copa	UTSW	1	172119514	missense	probably benign	0.04
R8885:Copa	UTSW	1	172097745	missense	probably damaging	1.00
R8891:Copa	UTSW	1	172119251	missense	probably damaging	1.00
R8927:Copa	UTSW	1	172104170	missense	probably null	0.03
R8928:Copa	UTSW	1	172104170	missense	probably null	0.03
R8956:Copa	UTSW	1	172109913	missense	possibly damaging	0.65
R9063:Copa	UTSW	1	172116962	missense	probably benign	0.00
R9295:Copa	UTSW	1	172112256	missense	probably damaging	0.99
R9364:Copa	UTSW	1	172117264	missense	probably benign	0.00
R9437:Copa	UTSW	1	172104145	missense	possibly damaging	0.93
T0722:Copa	UTSW	1	172111948	missense	possibly damaging	0.87
Z1177:Copa	UTSW	1	172106123	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTAGGGAGGCTATTGATTTCTGC -3'
(R):5'- ATGAATCCTGTTTACCTGCAAAGTC -3'

Sequencing Primer
(F):5'- GGCTATTGATTTCTGCCTTTAATTTC -3'
(R):5'- TGAATGGAAAGCTTGGTTCTTAAC -3'

Posted On

2015-06-20