Mutagenetix > Incidental Mutation

Incidental Mutation 'R2256:Copb1'

243380

Institutional Source

Beutler Lab

Gene Symbol

Copb1

Ensembl Gene

ENSMUSG00000030754

Gene Name

coatomer protein complex, subunit beta 1

Synonyms

2610019B04Rik, Copb1

MMRRC Submission

040256-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R2256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113814794-113853915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113853110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 29 (D29V)

Ref Sequence

ENSEMBL: ENSMUSP00000033012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033012]

AlphaFold

Q9JIF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033012
AA Change: D29V

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: D29V

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	19	539	2.4e-124	PFAM
low complexity region	643	660	N/A	INTRINSIC
Pfam:Coatamer_beta_C	667	807	3.6e-63	PFAM
Pfam:Coatomer_b_Cpla	813	944	3.1e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211417

Meta Mutation Damage Score

0.3289

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (97/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 9,008,431 (GRCm39)	S1200P	probably damaging	Het
Acadsb	A	G	7: 131,045,382 (GRCm39)	Y438C	probably benign	Het
Acp7	A	C	7: 28,313,838 (GRCm39)	W399G	probably damaging	Het
Actr3b	A	G	5: 26,027,403 (GRCm39)	T113A	possibly damaging	Het
Adgrv1	T	C	13: 81,654,259 (GRCm39)	D2204G	probably benign	Het
Ago1	A	G	4: 126,335,704 (GRCm39)	V669A	possibly damaging	Het
Ang5	T	A	14: 44,199,978 (GRCm39)	L14Q	probably null	Het
Aoc1	T	C	6: 48,883,374 (GRCm39)	Y417H	possibly damaging	Het
Arhgap32	T	C	9: 32,158,793 (GRCm39)	I186T	probably damaging	Het
Atf2	A	T	2: 73,675,855 (GRCm39)		probably null	Het
Atg4a	A	G	X: 139,890,984 (GRCm39)	I91V	probably benign	Het
Atp7b	T	G	8: 22,488,282 (GRCm39)	T1102P	probably damaging	Het
Bend5	A	C	4: 111,288,207 (GRCm39)		probably benign	Het
Camkk2	T	C	5: 122,884,398 (GRCm39)	D341G	probably damaging	Het
Cast	T	A	13: 74,888,024 (GRCm39)	I208L	probably damaging	Het
Ccdc141	A	T	2: 76,962,606 (GRCm39)	W113R	probably damaging	Het
Cdk14	T	A	5: 4,938,924 (GRCm39)	M433L	probably benign	Het
Cel	A	G	2: 28,451,204 (GRCm39)	F51S	probably damaging	Het
Cenpc1	A	G	5: 86,164,062 (GRCm39)	L853S	probably damaging	Het
Cep162	C	A	9: 87,088,967 (GRCm39)	D972Y	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,320,510 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,637,310 (GRCm39)	N1062K	probably benign	Het
Col3a1	A	G	1: 45,360,792 (GRCm39)	D74G	unknown	Het
Cox6a1	C	T	5: 115,486,907 (GRCm39)	E35K	possibly damaging	Het
Cyp2b9	G	A	7: 25,873,030 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,795,521 (GRCm39)	K177E	possibly damaging	Het
Dmbt1	T	C	7: 130,692,224 (GRCm39)	F823L	probably benign	Het
Drc7	A	T	8: 95,801,637 (GRCm39)	H666L	probably benign	Het
Fam228a	T	C	12: 4,787,775 (GRCm39)		probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 22,453,533 (GRCm39)	L296Q	possibly damaging	Het
Fat1	A	G	8: 45,403,408 (GRCm39)	Y53C	probably damaging	Het
Fhdc1	T	C	3: 84,353,353 (GRCm39)	E624G	probably benign	Het
Fryl	T	A	5: 73,230,187 (GRCm39)	N1657Y	possibly damaging	Het
Fsip2	T	A	2: 82,793,095 (GRCm39)	D417E	probably benign	Het
Garin5b	T	A	7: 4,774,020 (GRCm39)	M31L	probably benign	Het
Greb1l	A	G	18: 10,503,307 (GRCm39)	M453V	possibly damaging	Het
Gtf2b	A	G	3: 142,487,185 (GRCm39)	D207G	probably benign	Het
Has3	C	A	8: 107,600,888 (GRCm39)	L117I	probably damaging	Het
Iqca1l	C	T	5: 24,757,038 (GRCm39)		probably benign	Het
Jmjd1c	T	A	10: 67,061,073 (GRCm39)	I1142N	probably damaging	Het
Lipt2	C	T	7: 99,808,601 (GRCm39)	T38I	probably benign	Het
Magea2	A	T	X: 153,810,855 (GRCm39)	L243Q	probably damaging	Het
Mast4	A	T	13: 102,872,259 (GRCm39)	C2178S	possibly damaging	Het
Mctp2	A	G	7: 71,835,568 (GRCm39)	L543P	probably damaging	Het
Mmut	A	T	17: 41,267,210 (GRCm39)	I595F	probably benign	Het
Mphosph9	C	T	5: 124,421,722 (GRCm39)	V740I	probably benign	Het
Mtrex	A	T	13: 113,013,046 (GRCm39)	M890K	probably damaging	Het
Myo1e	G	A	9: 70,285,655 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,625 (GRCm39)	I586T	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Nphs1	A	T	7: 30,167,417 (GRCm39)	I782F	possibly damaging	Het
Numa1	A	G	7: 101,649,998 (GRCm39)	E1243G	probably damaging	Het
Or4a81	T	C	2: 89,618,814 (GRCm39)	H294R	probably benign	Het
Or4k42	T	C	2: 111,320,323 (GRCm39)	Y60C	probably damaging	Het
Or52e7	A	G	7: 104,685,026 (GRCm39)	Y207C	probably benign	Het
Or5g23	T	A	2: 85,438,807 (GRCm39)	Y149F	possibly damaging	Het
Or5p54	A	T	7: 107,554,244 (GRCm39)	Y132F	probably damaging	Het
Orai2	C	T	5: 136,190,454 (GRCm39)	V52I	probably damaging	Het
Osbpl5	A	G	7: 143,262,831 (GRCm39)	C186R	probably damaging	Het
Osbpl6	A	G	2: 76,414,818 (GRCm39)	E403G	probably damaging	Het
Padi4	G	A	4: 140,487,251 (GRCm39)	T217I	possibly damaging	Het
Parm1	C	T	5: 91,741,980 (GRCm39)	T116I	possibly damaging	Het
Pde4dip	T	A	3: 97,625,500 (GRCm39)	Q1366L	probably damaging	Het
Phgdh	T	C	3: 98,235,607 (GRCm39)	K108E	probably benign	Het
Pold1	T	C	7: 44,183,223 (GRCm39)		probably null	Het
Ppp1r37	G	T	7: 19,295,943 (GRCm39)		probably benign	Het
Sdk2	T	C	11: 113,721,620 (GRCm39)	N1332S	probably benign	Het
Sema6d	A	G	2: 124,506,070 (GRCm39)	D626G	probably damaging	Het
Slc18b1	A	G	10: 23,686,820 (GRCm39)	N212S	probably benign	Het
Slc2a9	T	C	5: 38,610,542 (GRCm39)	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,036,742 (GRCm39)	M555K	probably benign	Het
Sntg2	C	T	12: 30,286,687 (GRCm39)	W302*	probably null	Het
Spata22	T	A	11: 73,231,301 (GRCm39)	M185K	possibly damaging	Het
Stk35	T	A	2: 129,652,427 (GRCm39)	Y309*	probably null	Het
Taar8c	A	G	10: 23,976,969 (GRCm39)	V281A	probably benign	Het
Thoc1	C	A	18: 9,993,466 (GRCm39)	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,469,030 (GRCm39)	Y562*	probably null	Het
Tmem121b	A	G	6: 120,469,032 (GRCm39)	Y562H	probably damaging	Het
Tmtc4	A	T	14: 123,178,820 (GRCm39)	I449N	probably benign	Het
Tmub1	C	A	5: 24,651,922 (GRCm39)	G14V	possibly damaging	Het
Tmub1	G	A	5: 24,652,175 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,728,397 (GRCm39)	T529A	probably damaging	Het
Ugdh	A	T	5: 65,574,458 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,910,682 (GRCm39)	K913E	probably benign	Het
Vgf	A	G	5: 137,060,401 (GRCm39)		probably benign	Het
Vmn2r19	T	A	6: 123,306,845 (GRCm39)	F451Y	probably benign	Het
Vmn2r59	A	T	7: 41,661,669 (GRCm39)	C715*	probably null	Het
Vps9d1	C	A	8: 123,971,860 (GRCm39)	A582S	probably benign	Het
Xbp1	T	G	11: 5,474,841 (GRCm39)	H247Q	probably damaging	Het
Zfp1008	A	T	13: 62,755,210 (GRCm39)	I36N	probably benign	Het
Zfp319	A	T	8: 96,055,129 (GRCm39)	M358K	possibly damaging	Het
Zfp438	A	T	18: 5,213,508 (GRCm39)	N483K	probably damaging	Het
Zfp518b	T	C	5: 38,828,979 (GRCm39)	N1009D	possibly damaging	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	probably damaging	Het
Zgrf1	T	A	3: 127,355,646 (GRCm39)	S291T	probably benign	Het

Other mutations in Copb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Copb1	APN	7	113,826,011 (GRCm39)	missense	probably benign	0.00
IGL02458:Copb1	APN	7	113,846,020 (GRCm39)	missense	probably benign	0.00
IGL02549:Copb1	APN	7	113,846,032 (GRCm39)	missense	probably benign	0.00
IGL02639:Copb1	APN	7	113,825,830 (GRCm39)	splice site	probably benign
robbers	UTSW	7	113,848,211 (GRCm39)	missense	probably damaging	1.00
R0012:Copb1	UTSW	7	113,836,643 (GRCm39)	missense	probably damaging	0.99
R0012:Copb1	UTSW	7	113,836,643 (GRCm39)	missense	probably damaging	0.99
R0023:Copb1	UTSW	7	113,849,329 (GRCm39)	missense	probably benign	0.26
R0631:Copb1	UTSW	7	113,832,517 (GRCm39)	missense	probably benign	0.12
R1996:Copb1	UTSW	7	113,831,438 (GRCm39)	missense	probably benign	0.00
R2257:Copb1	UTSW	7	113,853,110 (GRCm39)	missense	possibly damaging	0.89
R3853:Copb1	UTSW	7	113,822,551 (GRCm39)	missense	probably damaging	1.00
R4679:Copb1	UTSW	7	113,848,211 (GRCm39)	missense	probably damaging	1.00
R4686:Copb1	UTSW	7	113,820,971 (GRCm39)	missense	possibly damaging	0.94
R5057:Copb1	UTSW	7	113,825,997 (GRCm39)	missense	probably benign
R5140:Copb1	UTSW	7	113,846,035 (GRCm39)	missense	probably benign	0.01
R5669:Copb1	UTSW	7	113,836,820 (GRCm39)	missense	probably damaging	1.00
R5779:Copb1	UTSW	7	113,818,807 (GRCm39)	missense	probably damaging	1.00
R6017:Copb1	UTSW	7	113,836,032 (GRCm39)	missense	probably benign	0.07
R6114:Copb1	UTSW	7	113,846,036 (GRCm39)	missense	probably benign	0.00
R6403:Copb1	UTSW	7	113,837,686 (GRCm39)	missense	probably damaging	1.00
R6826:Copb1	UTSW	7	113,825,954 (GRCm39)	missense	probably benign	0.00
R6905:Copb1	UTSW	7	113,853,125 (GRCm39)	missense	probably benign	0.00
R7241:Copb1	UTSW	7	113,836,591 (GRCm39)	missense	probably damaging	0.96
R7293:Copb1	UTSW	7	113,818,837 (GRCm39)	missense	probably damaging	1.00
R7485:Copb1	UTSW	7	113,844,720 (GRCm39)	missense	possibly damaging	0.94
R8103:Copb1	UTSW	7	113,834,202 (GRCm39)	missense	possibly damaging	0.67
R8427:Copb1	UTSW	7	113,825,989 (GRCm39)	missense	probably benign	0.03
R8690:Copb1	UTSW	7	113,849,463 (GRCm39)	missense	probably benign	0.02
R8843:Copb1	UTSW	7	113,820,935 (GRCm39)	missense	possibly damaging	0.81
R9405:Copb1	UTSW	7	113,822,458 (GRCm39)	missense	possibly damaging	0.78
R9425:Copb1	UTSW	7	113,848,182 (GRCm39)	missense	probably damaging	1.00
R9513:Copb1	UTSW	7	113,831,432 (GRCm39)	missense	probably benign	0.00
R9563:Copb1	UTSW	7	113,836,034 (GRCm39)	missense	possibly damaging	0.73
R9564:Copb1	UTSW	7	113,836,034 (GRCm39)	missense	possibly damaging	0.73
R9566:Copb1	UTSW	7	113,825,997 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACTTACATCATCAGAGAAGTTGAAA -3'
(R):5'- TGCGGAATTTGTCTCCCTTT -3'

Sequencing Primer
(F):5'- CTATTAGTGAGTTCCAGGCTGACC -3'
(R):5'- AGATTTTCCTGGCACCTTTC -3'

Posted On

2014-10-16