Mutagenetix > Incidental Mutation

Incidental Mutation 'R2393:Copg2'

247855

Institutional Source

Beutler Lab

Gene Symbol

Copg2

Ensembl Gene

ENSMUSG00000025607

Gene Name

coatomer protein complex, subunit gamma 2

Synonyms

MMRRC Submission

040361-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R2393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30747552-30873712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30787893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 602 (K602E)

Ref Sequence

ENSEMBL: ENSMUSP00000126726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048774] [ENSMUST00000166192]

AlphaFold

Q9QXK3

Predicted Effect

probably benign
Transcript: ENSMUST00000048774
AA Change: K602E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000038368
Gene: ENSMUSG00000025607
AA Change: K602E

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	23	539	2.6e-134	PFAM
Pfam:COP-gamma_platf	609	756	7.7e-66	PFAM
Pfam:Coatomer_g_Cpla	758	870	1.6e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166192
AA Change: K602E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126726
Gene: ENSMUSG00000025607
AA Change: K602E

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	23	380	6.5e-92	PFAM

Meta Mutation Damage Score

0.0634

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,225,057 (GRCm39)	L512*	probably null	Het
Adam4	A	T	12: 81,467,485 (GRCm39)	F379I	probably benign	Het
Ano6	C	G	15: 95,863,906 (GRCm39)		probably benign	Het
Apc2	A	G	10: 80,148,903 (GRCm39)	E1319G	possibly damaging	Het
Arfgef3	A	G	10: 18,473,535 (GRCm39)	V1588A	possibly damaging	Het
Arl8a	T	A	1: 135,080,604 (GRCm39)	V93E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cd200r2	T	A	16: 44,729,630 (GRCm39)	I95N	probably damaging	Het
Cd209d	A	G	8: 3,928,436 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,397,100 (GRCm39)		probably null	Het
Chd2	G	T	7: 73,157,631 (GRCm39)	D171E	possibly damaging	Het
Chrna7	G	A	7: 62,748,994 (GRCm39)	A496V	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Colgalt1	C	G	8: 72,076,385 (GRCm39)	T612S	probably benign	Het
Crtc1	T	A	8: 70,840,808 (GRCm39)	T473S	probably benign	Het
Ctbp2	A	T	7: 132,625,290 (GRCm39)		probably null	Het
Edem1	T	G	6: 108,829,504 (GRCm39)	M541R	probably damaging	Het
Ehmt1	A	C	2: 24,696,229 (GRCm39)	V953G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr2	T	C	7: 129,828,968 (GRCm39)		probably null	Het
Focad	A	G	4: 88,039,567 (GRCm39)	D10G	probably damaging	Het
Gfus	G	T	15: 75,798,200 (GRCm39)	L191I	probably damaging	Het
Gm5901	G	T	7: 105,026,996 (GRCm39)	V255F	possibly damaging	Het
Hsp90aa1	T	C	12: 110,659,840 (GRCm39)	N416S	probably damaging	Het
Hspb1	T	C	5: 135,917,950 (GRCm39)	F142L	probably benign	Het
Il17re	C	T	6: 113,439,314 (GRCm39)	H75Y	possibly damaging	Het
Kctd3	A	G	1: 188,713,568 (GRCm39)	I389T	probably damaging	Het
Lhx6	T	C	2: 35,981,402 (GRCm39)	D63G	probably benign	Het
Mepe	A	G	5: 104,485,327 (GRCm39)	T156A	possibly damaging	Het
Met	A	G	6: 17,534,197 (GRCm39)	Y680C	probably damaging	Het
Mrgpra3	T	C	7: 47,239,365 (GRCm39)	Y187C	possibly damaging	Het
Mst1	T	G	9: 107,960,151 (GRCm39)		probably null	Het
Myh13	T	A	11: 67,231,184 (GRCm39)	S394T	possibly damaging	Het
Nbeal1	T	A	1: 60,290,529 (GRCm39)	V1042E	probably damaging	Het
Ndrg4	T	A	8: 96,432,839 (GRCm39)	Y15*	probably null	Het
Neurl4	G	A	11: 69,797,900 (GRCm39)	R720H	probably damaging	Het
Nfkbia	A	G	12: 55,537,455 (GRCm39)		probably benign	Het
Nwd1	T	A	8: 73,389,055 (GRCm39)	M202K	probably benign	Het
Or10d4	G	T	9: 39,580,569 (GRCm39)	C72F	possibly damaging	Het
Or2av9	T	A	11: 58,381,546 (GRCm39)	I12F	probably benign	Het
Pate2	T	C	9: 35,581,036 (GRCm39)		probably benign	Het
Pibf1	A	G	14: 99,480,368 (GRCm39)	T715A	probably benign	Het
Pitpnm1	T	C	19: 4,160,935 (GRCm39)	L858P	probably benign	Het
Pla2g3	A	C	11: 3,443,115 (GRCm39)	S483R	probably benign	Het
Rad51ap2	T	A	12: 11,507,798 (GRCm39)	D573E	probably damaging	Het
Rho	T	C	6: 115,912,352 (GRCm39)		probably benign	Het
Rpl39l	A	T	16: 9,992,328 (GRCm39)	*52L	probably null	Het
Slco1a5	T	A	6: 142,194,501 (GRCm39)	R381W	possibly damaging	Het
Spns3	T	A	11: 72,441,059 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,259,872 (GRCm39)	S493P	probably benign	Het
Tecpr2	T	C	12: 110,892,836 (GRCm39)	S293P	probably damaging	Het
Ttn	C	T	2: 76,583,211 (GRCm39)	V20815M	probably benign	Het
Ushbp1	T	C	8: 71,847,132 (GRCm39)	I167V	probably benign	Het
Wdr81	C	T	11: 75,340,231 (GRCm39)	A1296T	probably damaging	Het
Zmym2	A	G	14: 57,158,180 (GRCm39)	Y573C	probably benign	Het

Other mutations in Copg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02324:Copg2	APN	6	30,840,469 (GRCm39)	critical splice donor site	probably null
IGL02511:Copg2	APN	6	30,835,757 (GRCm39)	missense	probably benign	0.00
R0612:Copg2	UTSW	6	30,838,404 (GRCm39)	splice site	probably null
R0723:Copg2	UTSW	6	30,792,917 (GRCm39)	missense	possibly damaging	0.94
R0742:Copg2	UTSW	6	30,840,548 (GRCm39)	splice site	probably null
R1708:Copg2	UTSW	6	30,801,312 (GRCm39)	missense	probably damaging	1.00
R1775:Copg2	UTSW	6	30,787,271 (GRCm39)	missense	probably damaging	1.00
R1826:Copg2	UTSW	6	30,789,777 (GRCm39)	missense	probably benign	0.00
R2011:Copg2	UTSW	6	30,793,676 (GRCm39)	critical splice donor site	probably null
R2170:Copg2	UTSW	6	30,789,757 (GRCm39)	frame shift	probably null
R2358:Copg2	UTSW	6	30,803,168 (GRCm39)	nonsense	probably null
R2512:Copg2	UTSW	6	30,873,591 (GRCm39)	splice site	probably null
R4595:Copg2	UTSW	6	30,749,449 (GRCm39)	missense	probably damaging	0.98
R4613:Copg2	UTSW	6	30,788,531 (GRCm39)	missense	probably benign
R5243:Copg2	UTSW	6	30,750,626 (GRCm39)	missense	probably benign	0.01
R5293:Copg2	UTSW	6	30,803,162 (GRCm39)	missense	probably damaging	0.98
R6019:Copg2	UTSW	6	30,787,868 (GRCm39)	missense	possibly damaging	0.54
R6235:Copg2	UTSW	6	30,793,006 (GRCm39)	missense	probably damaging	1.00
R6605:Copg2	UTSW	6	30,835,757 (GRCm39)	missense	probably benign	0.31
R6857:Copg2	UTSW	6	30,840,533 (GRCm39)	missense	possibly damaging	0.94
R7132:Copg2	UTSW	6	30,792,931 (GRCm39)	missense	probably benign	0.00
R7216:Copg2	UTSW	6	30,862,535 (GRCm39)	missense	probably damaging	0.99
R7223:Copg2	UTSW	6	30,789,689 (GRCm39)	nonsense	probably null
R7288:Copg2	UTSW	6	30,801,341 (GRCm39)	missense	probably damaging	1.00
R7588:Copg2	UTSW	6	30,788,526 (GRCm39)	critical splice donor site	probably null
R7993:Copg2	UTSW	6	30,793,097 (GRCm39)	missense	probably damaging	1.00
R8005:Copg2	UTSW	6	30,873,632 (GRCm39)	start codon destroyed	possibly damaging	0.63
R8191:Copg2	UTSW	6	30,790,665 (GRCm39)	missense	probably benign	0.00
R8273:Copg2	UTSW	6	30,793,061 (GRCm39)	missense	probably benign	0.05
R8853:Copg2	UTSW	6	30,803,115 (GRCm39)	missense	probably benign	0.44
R9256:Copg2	UTSW	6	30,788,637 (GRCm39)	missense	probably benign	0.01
R9377:Copg2	UTSW	6	30,793,721 (GRCm39)	missense	possibly damaging	0.92
R9443:Copg2	UTSW	6	30,750,578 (GRCm39)	missense	probably benign	0.26
R9451:Copg2	UTSW	6	30,793,786 (GRCm39)	splice site	probably benign
R9523:Copg2	UTSW	6	30,749,505 (GRCm39)	critical splice acceptor site	probably null
R9583:Copg2	UTSW	6	30,787,399 (GRCm39)	nonsense	probably null
R9698:Copg2	UTSW	6	30,838,373 (GRCm39)	missense	probably damaging	1.00
Z1177:Copg2	UTSW	6	30,786,520 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAGCTCCAGCCACTAAAGC -3'
(R):5'- TGTAAATATAGCGTCTAACCTGGAG -3'

Sequencing Primer
(F):5'- GTAGCTCCAGCCACTAAAGCCTATG -3'
(R):5'- CTTTCTGTATACAAGGTCAGT -3'

Posted On

2014-11-11