Mutagenetix > Incidental Mutation

Incidental Mutation 'R1518:Cope'

167198

Institutional Source

Beutler Lab

Gene Symbol

Cope

Ensembl Gene

ENSMUSG00000055681

Gene Name

coatomer protein complex, subunit epsilon

Synonyms

1110005D17Rik, Cope1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70755417-70765652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70765411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 287 (I287S)

Ref Sequence

ENSEMBL: ENSMUSP00000071078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066469] [ENSMUST00000128003] [ENSMUST00000140239] [ENSMUST00000150968] [ENSMUST00000165819] [ENSMUST00000168018]

AlphaFold

O89079

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066469
AA Change: I287S

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071078
Gene: ENSMUSG00000055681
AA Change: I287S

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Coatomer_E	15	305	2.8e-134	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128003
AA Change: I203S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122888
Gene: ENSMUSG00000055681
AA Change: I203S

Domain	Start	End	E-Value	Type
Pfam:Coatomer_E	1	212	5.4e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134822

Predicted Effect

probably benign
Transcript: ENSMUST00000140239

SMART Domains

Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408

Domain	Start	End	E-Value	Type
low complexity region	49	68	N/A	INTRINSIC
TLC	97	311	1.24e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150968

SMART Domains

Protein: ENSMUSP00000119055
Gene: ENSMUSG00000055681

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Coatomer_E	15	227	6.5e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165819

SMART Domains

Protein: ENSMUSP00000128325
Gene: ENSMUSG00000087408

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:TGFb_propeptide	33	169	7e-16	PFAM
low complexity region	225	237	N/A	INTRINSIC
TGFB	251	357	6.22e-56	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000167850
AA Change: I94S

SMART Domains

Protein: ENSMUSP00000132976
Gene: ENSMUSG00000055681
AA Change: I94S

Domain	Start	End	E-Value	Type
Pfam:Coatomer_E	1	79	5.4e-38	PFAM
Pfam:Coatomer_E	75	113	3.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168018

SMART Domains

Protein: ENSMUSP00000130416
Gene: ENSMUSG00000055681

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Coatomer_E	15	79	4.5e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,666 (GRCm39)	M493L	probably benign	Het
Abtb2	G	A	2: 103,539,629 (GRCm39)	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,260,840 (GRCm39)	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,821,469 (GRCm39)	T623A	possibly damaging	Het
Alox5	A	G	6: 116,390,741 (GRCm39)	F470S	probably damaging	Het
Angpt2	T	C	8: 18,755,855 (GRCm39)	E204G	probably benign	Het
Apip	A	G	2: 102,919,838 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,039,207 (GRCm39)	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 72,588,729 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,340 (GRCm39)	D56E	probably benign	Het
Cacna1s	C	T	1: 136,026,289 (GRCm39)	A1092V	probably damaging	Het
Calr3	A	G	8: 73,181,044 (GRCm39)	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,816,877 (GRCm39)	D55V	probably benign	Het
Chid1	A	C	7: 141,108,384 (GRCm39)	V145G	probably damaging	Het
Chst15	T	C	7: 131,871,855 (GRCm39)	N142S	probably damaging	Het
Cnot4	C	T	6: 35,028,389 (GRCm39)	R409Q	probably damaging	Het
Cpd	A	T	11: 76,731,212 (GRCm39)		probably null	Het
Cux1	G	T	5: 136,337,133 (GRCm39)	T785K	probably benign	Het
Dennd2b	A	G	7: 109,156,562 (GRCm39)	S63P	probably damaging	Het
Dthd1	T	C	5: 62,979,383 (GRCm39)	S348P	probably damaging	Het
Eno3	G	T	11: 70,551,903 (GRCm39)	E64*	probably null	Het
Entpd1	T	A	19: 40,713,507 (GRCm39)	Y184*	probably null	Het
Erv3	A	T	2: 131,698,083 (GRCm39)	M92K	probably benign	Het
Flg2	T	A	3: 93,110,445 (GRCm39)	H824Q	unknown	Het
Fndc9	G	A	11: 46,128,930 (GRCm39)	G150S	probably benign	Het
Gdap1	G	A	1: 17,217,169 (GRCm39)	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,417,229 (GRCm39)	L394F	probably damaging	Het
Ift88	A	G	14: 57,668,085 (GRCm39)	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,252,063 (GRCm39)	I437L	probably benign	Het
Kras	T	A	6: 145,177,977 (GRCm39)	E98D	probably benign	Het
Lcorl	C	A	5: 45,891,543 (GRCm39)	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,921 (GRCm39)	I516V	probably benign	Het
Lrrc51	T	C	7: 101,564,803 (GRCm39)	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,837,504 (GRCm39)	A159T	probably damaging	Het
Magel2	G	A	7: 62,030,188 (GRCm39)	V1031I	unknown	Het
Man1c1	A	T	4: 134,308,100 (GRCm39)	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977 (GRCm39)	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,788,893 (GRCm39)	A135S	possibly damaging	Het
Muc4	T	C	16: 32,569,167 (GRCm39)	S76P	possibly damaging	Het
Nin	T	G	12: 70,061,547 (GRCm39)	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,021,268 (GRCm39)	I585T	probably benign	Het
Npy1r	C	T	8: 67,156,847 (GRCm39)	A89V	probably benign	Het
Or11g27	T	C	14: 50,771,622 (GRCm39)	V251A	probably damaging	Het
Or4c115	G	A	2: 88,927,944 (GRCm39)	A109V	probably benign	Het
Or52ae7	T	A	7: 103,119,249 (GRCm39)	M1K	probably null	Het
Or52n3	T	A	7: 104,530,515 (GRCm39)	Y200*	probably null	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Parp14	T	G	16: 35,677,008 (GRCm39)	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,423,867 (GRCm39)	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,656,107 (GRCm39)	Y104*	probably null	Het
Pgm2l1	A	G	7: 99,910,932 (GRCm39)	K292R	probably benign	Het
Plec	T	C	15: 76,072,401 (GRCm39)	E728G	probably damaging	Het
Plppr4	T	C	3: 117,129,152 (GRCm39)	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,558,821 (GRCm39)	N23K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prkca	T	C	11: 107,869,142 (GRCm39)	D57G	probably damaging	Het
Prkcb	A	G	7: 122,143,854 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,911 (GRCm39)	Q169L	probably null	Het
Prl6a1	C	A	13: 27,502,910 (GRCm39)	Q169K	possibly damaging	Het
Psmd14	G	A	2: 61,591,335 (GRCm39)	R46H	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,138,408 (GRCm39)	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rbm25	A	T	12: 83,715,219 (GRCm39)	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,637,678 (GRCm39)	I35V	probably benign	Het
Sestd1	A	G	2: 77,071,976 (GRCm39)	Y49H	probably damaging	Het
Setd2	T	A	9: 110,431,306 (GRCm39)	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,819,740 (GRCm39)	C486*	probably null	Het
Spef2	T	A	15: 9,667,316 (GRCm39)	I791F	probably damaging	Het
Sptb	T	C	12: 76,650,798 (GRCm39)	T1726A	possibly damaging	Het
Stk38l	T	A	6: 146,673,129 (GRCm39)	M296K	probably benign	Het
Taf5	T	C	19: 47,070,285 (GRCm39)	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,086,855 (GRCm39)	T316K	probably damaging	Het
Trpm2	A	G	10: 77,778,839 (GRCm39)	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,214,702 (GRCm39)	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,398,087 (GRCm39)	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,881,269 (GRCm39)	H399R	probably damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	Het

Other mutations in Cope

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02696:Cope	APN	8	70,763,143 (GRCm39)	critical splice donor site	probably null
PIT4431001:Cope	UTSW	8	70,765,417 (GRCm39)	missense	probably damaging	0.99
R0570:Cope	UTSW	8	70,759,181 (GRCm39)	missense	probably damaging	0.96
R1382:Cope	UTSW	8	70,765,513 (GRCm39)	missense	probably benign	0.00
R4538:Cope	UTSW	8	70,759,157 (GRCm39)	missense	probably damaging	1.00
R4941:Cope	UTSW	8	70,755,584 (GRCm39)	critical splice donor site	probably null
R5106:Cope	UTSW	8	70,763,097 (GRCm39)	missense	possibly damaging	0.57
R5454:Cope	UTSW	8	70,757,306 (GRCm39)	missense	probably benign	0.17
R5764:Cope	UTSW	8	70,759,231 (GRCm39)	missense	probably damaging	1.00
R5979:Cope	UTSW	8	70,755,193 (GRCm39)	splice site	probably null
R6003:Cope	UTSW	8	70,757,285 (GRCm39)	missense	probably benign	0.01
R6010:Cope	UTSW	8	70,761,162 (GRCm39)	missense	probably damaging	1.00
R7074:Cope	UTSW	8	70,765,537 (GRCm39)	missense	probably benign	0.11
R8022:Cope	UTSW	8	70,765,453 (GRCm39)	missense	probably benign	0.01
R9309:Cope	UTSW	8	70,755,482 (GRCm39)	missense	unknown
R9326:Cope	UTSW	8	70,755,516 (GRCm39)	missense	possibly damaging	0.59
R9341:Cope	UTSW	8	70,761,228 (GRCm39)	critical splice donor site	probably null
R9343:Cope	UTSW	8	70,761,228 (GRCm39)	critical splice donor site	probably null
R9501:Cope	UTSW	8	70,765,363 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGCCCAGGTTCCGTAATCTC -3'
(R):5'- ATACCCACCATGCTGTGCAAGG -3'

Sequencing Primer
(F):5'- GGCTTTTGGATCCTTATATCTGGC -3'
(R):5'- GAGTGGCAACATCCTTCATTG -3'

Posted On

2014-04-13