Mutagenetix > Incidental Mutation

Incidental Mutation 'R4155:Copa'

315070

Institutional Source

Beutler Lab

Gene Symbol

Copa

Ensembl Gene

ENSMUSG00000026553

Gene Name

coatomer protein complex subunit alpha

Synonyms

xenin

MMRRC Submission

040999-MU

Accession Numbers

Genbank: NM_009938; MGI: 1334462

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172082529-172122330 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 172101425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 251 (N251K)

Ref Sequence

ENSEMBL: ENSMUSP00000118179 (fasta)

Gene Model

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

AlphaFold

Q8CIE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027833
AA Change: N251K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553
AA Change: N251K

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

noncoding transcript
Transcript: ENSMUST00000134468
AA Change: N612K

Predicted Effect

probably damaging
Transcript: ENSMUST00000135192
AA Change: N251K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553
AA Change: N251K

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: ENSMUST00000150298

Predicted Effect

probably damaging
Transcript: ENSMUST00000152403
AA Change: N26K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123214
Gene: ENSMUSG00000026553
AA Change: N26K

Domain	Start	End	E-Value	Type
WD40	14	53	8.42e-7	SMART
WD40	56	94	1.38e1	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,938,263	F69I	possibly damaging	Het
Akt3	A	G	1: 177,096,977	I184T	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Armc2	A	G	10: 42,011,867	V40A	probably damaging	Het
Ash2l	A	G	8: 25,817,454	Y485H	probably damaging	Het
Atr	T	A	9: 95,888,124	C1202*	probably null	Het
Bcl11b	A	T	12: 107,917,425		probably null	Het
Birc6	C	A	17: 74,596,939	S1242R	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,904		probably benign	Het
Bsx	A	G	9: 40,876,336	E102G	probably benign	Het
Casq2	A	T	3: 102,133,102		probably null	Het
Ccpg1	C	A	9: 73,012,167	Q355K	probably benign	Het
Cst8	C	A	2: 148,800,076	A31E	possibly damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Ecd	A	G	14: 20,324,564	S503P	probably damaging	Het
Fam155a	T	A	8: 9,233,023	Y342F	possibly damaging	Het
Fbn2	C	A	18: 58,023,287	E2487*	probably null	Het
Hoxd9	A	G	2: 74,699,323	I308V	probably benign	Het
Ica1l	G	A	1: 60,013,893	A162V	possibly damaging	Het
Kcnj15	A	T	16: 95,296,307	K263*	probably null	Het
Mettl4	T	C	17: 94,740,575	M213V	probably benign	Het
Ncan	C	A	8: 70,110,077	E510D	possibly damaging	Het
Ndufs4	A	T	13: 114,307,854	S129R	probably benign	Het
Olfr1262	A	G	2: 90,002,660	S85G	probably benign	Het
Olfr305	T	A	7: 86,364,062	I92L	probably benign	Het
Olfr601	T	C	7: 103,359,156	T13A	probably benign	Het
Olfr933	A	T	9: 38,976,155	T160S	probably damaging	Het
P2rx5	A	G	11: 73,171,829	T455A	probably damaging	Het
Pcdh1	T	A	18: 38,203,106	T159S	probably damaging	Het
Poln	A	G	5: 34,009,649	V755A	possibly damaging	Het
Pou4f1	C	T	14: 104,467,717	S6N	possibly damaging	Het
Rpap1	C	T	2: 119,774,179	R416H	probably damaging	Het
Samd4	T	A	14: 47,052,946	M170K	possibly damaging	Het
Srgn	A	G	10: 62,497,834	F55L	possibly damaging	Het
Tmcc1	C	T	6: 116,133,804	G176D	probably benign	Het
Tmem232	A	T	17: 65,436,333	M321K	probably damaging	Het
Tnfsf11	A	G	14: 78,299,869	M118T	probably benign	Het
Tns1	T	A	1: 73,914,631	N1848Y	probably damaging	Het
Ttc27	T	G	17: 74,840,460	I669S	probably benign	Het
Uaca	A	G	9: 60,871,753	S1141G	probably benign	Het
Usp34	T	A	11: 23,417,676	V1671E	probably damaging	Het
Wdr64	T	A	1: 175,769,606	L73H	probably benign	Het
Zfp410	G	A	12: 84,327,432	R181H	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
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
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
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
R9673:Copa	UTSW	1	172118081	missense	probably benign	0.11
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'- AGCCTTGCAGTATCAGCATG -3'
(R):5'- ACTTCAGAACACAGGACTTGG -3'

Sequencing Primer
(F):5'- TGTCTCCTCAAAAAGCTGGG -3'
(R):5'- CAGAACACAGGACTTGGTTTTTC -3'

Posted On

2015-05-14