Mutagenetix > Incidental Mutation

Incidental Mutation 'R9256:Copg2'

701863

Institutional Source

Beutler Lab

Gene Symbol

Copg2

Ensembl Gene

ENSMUSG00000025607

Gene Name

coatomer protein complex, subunit gamma 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R9256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30747554-30896794 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30811702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 555 (I555M)

Ref Sequence

ENSEMBL: ENSMUSP00000038368 (fasta)

Gene Model

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

AlphaFold

Q9QXK3

Predicted Effect

probably benign
Transcript: ENSMUST00000048774
AA Change: I555M

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000038368
Gene: ENSMUSG00000025607
AA Change: I555M

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: I555M

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000126726
Gene: ENSMUSG00000025607
AA Change: I555M

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,492,893	Y21C	probably damaging	Het
Adamts7	A	T	9: 90,178,165	I290F	probably damaging	Het
Adcy5	G	A	16: 35,303,682	V1244I	probably damaging	Het
Adnp	A	T	2: 168,184,025	I450N	probably damaging	Het
AL732309.1	A	T	2: 25,246,199	M1K	probably null	Het
Alox15	C	T	11: 70,345,544	G510D	possibly damaging	Het
Arhgef16	C	A	4: 154,279,045	E685*	probably null	Het
Atp13a2	A	G	4: 141,002,727	E643G	probably damaging	Het
AW554918	C	A	18: 25,290,004	Q171K	probably damaging	Het
Bdkrb2	A	G	12: 105,592,093	T198A	probably benign	Het
C530008M17Rik	T	G	5: 76,840,910	V36G	unknown	Het
C7	T	C	15: 4,994,163	E721G	probably damaging	Het
Cc2d2b	T	C	19: 40,809,404	Y823H	unknown	Het
Cd74	T	C	18: 60,811,294	V192A	probably benign	Het
Cdc42bpg	G	A	19: 6,311,037	A231T	probably damaging	Het
Cers6	G	A	2: 68,947,362		probably benign	Het
Crnkl1	A	G	2: 145,928,296	V209A	possibly damaging	Het
Dock7	T	C	4: 99,083,035	T98A		Het
Enpp5	T	C	17: 44,085,523	I442T	probably benign	Het
Fbxw19	T	C	9: 109,481,573	Y427C	probably damaging	Het
Fktn	T	C	4: 53,744,653	V311A	probably benign	Het
Fyb	T	G	15: 6,644,877	S665A	possibly damaging	Het
Igkv6-20	T	C	6: 70,336,433	Y16C	probably benign	Het
Ints10	A	G	8: 68,808,477	R370G	possibly damaging	Het
Iqub	A	T	6: 24,446,199	I742N	possibly damaging	Het
Kcnn3	T	C	3: 89,667,100	Y640H	probably damaging	Het
Lrp2	A	G	2: 69,510,959	V959A	probably benign	Het
Marcksl1	A	G	4: 129,515,023	S132G	probably benign	Het
Mfsd4b3	T	A	10: 39,948,014	K83N	probably damaging	Het
Mib1	A	G	18: 10,760,862	E384G	possibly damaging	Het
Morn5	G	T	2: 36,049,541	G5W	probably damaging	Het
Mrpl46	A	G	7: 78,782,923	S36P	probably benign	Het
Mtif2	T	C	11: 29,540,777	F494L	probably benign	Het
Naalad2	T	C	9: 18,363,238	N336S	probably benign	Het
Nepro	A	G	16: 44,724,427	N22S	probably benign	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Olfr248	C	T	1: 174,391,543	T158I	probably benign	Het
Olfr397	A	T	11: 73,965,309	I234F	probably benign	Het
Olfr716	T	C	7: 107,148,180	I288T	probably damaging	Het
Olfr824	A	G	10: 130,126,466	V197A	possibly damaging	Het
Olfr894	T	A	9: 38,219,202	Y123*	probably null	Het
Pcnx	A	T	12: 81,973,273	N724Y		Het
Pde8b	G	A	13: 95,027,696	R669C	probably damaging	Het
Pkhd1l1	T	A	15: 44,533,894		probably null	Het
Pls1	A	G	9: 95,773,643	V352A	probably damaging	Het
Prpmp5	T	C	6: 132,312,009	N284S	unknown	Het
Prtg	A	T	9: 72,851,695	I444F	probably damaging	Het
Ptprb	A	T	10: 116,383,871	H1998L	probably damaging	Het
Qrich2	A	T	11: 116,465,624	V133D	probably benign	Het
Rab35	C	A	5: 115,640,187	R71S	probably damaging	Het
Scgb2b12	A	G	7: 32,326,629	L46P	probably damaging	Het
Sdha	A	T	13: 74,327,364		probably benign	Het
Sdr39u1	C	A	14: 55,897,752	V245F	probably benign	Het
Sgo2a	T	A	1: 58,019,613	V1117E	possibly damaging	Het
Slc12a2	T	C	18: 57,941,795	S1154P	probably damaging	Het
Slc6a1	A	T	6: 114,310,593	Q441L	possibly damaging	Het
Smtnl2	A	T	11: 72,403,009		probably null	Het
Sorbs2	T	G	8: 45,795,737	V675G	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tmem38b	A	T	4: 53,848,924	I110F	probably damaging	Het
Ubqln1	A	G	13: 58,177,907	I573T	probably damaging	Het
Usp9y	T	C	Y: 1,356,235	I1155M	possibly damaging	Het
Vipr1	A	G	9: 121,661,052	I164V	probably benign	Het
Vps13b	T	G	15: 35,623,779	S1281A	possibly damaging	Het
Vps13d	A	G	4: 145,155,804	L1073P		Het
Wipi1	C	T	11: 109,583,126		probably null	Het
Zdhhc8	G	A	16: 18,224,822	P505S	probably damaging	Het
Zfp292	C	T	4: 34,839,899	V84I	probably benign	Het
Zfp712	T	C	13: 67,040,727	T579A	probably benign	Het
Zfp788	G	A	7: 41,650,214	R758Q	probably benign	Het

Other mutations in Copg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02324:Copg2	APN	6	30863534	critical splice donor site	probably null
IGL02511:Copg2	APN	6	30858822	missense	probably benign	0.00
R0612:Copg2	UTSW	6	30861469	splice site	probably null
R0723:Copg2	UTSW	6	30815982	missense	possibly damaging	0.94
R0742:Copg2	UTSW	6	30863613	splice site	probably null
R1708:Copg2	UTSW	6	30824377	missense	probably damaging	1.00
R1775:Copg2	UTSW	6	30810336	missense	probably damaging	1.00
R1826:Copg2	UTSW	6	30812842	missense	probably benign	0.00
R2011:Copg2	UTSW	6	30816741	critical splice donor site	probably null
R2170:Copg2	UTSW	6	30812822	frame shift	probably null
R2358:Copg2	UTSW	6	30826233	nonsense	probably null
R2393:Copg2	UTSW	6	30810958	missense	probably benign	0.00
R2512:Copg2	UTSW	6	30896656	splice site	probably null
R4595:Copg2	UTSW	6	30749450	missense	probably damaging	0.98
R4613:Copg2	UTSW	6	30811596	missense	probably benign
R5243:Copg2	UTSW	6	30750627	missense	probably benign	0.01
R5293:Copg2	UTSW	6	30826227	missense	probably damaging	0.98
R6019:Copg2	UTSW	6	30810933	missense	possibly damaging	0.54
R6235:Copg2	UTSW	6	30816071	missense	probably damaging	1.00
R6605:Copg2	UTSW	6	30858822	missense	probably benign	0.31
R6857:Copg2	UTSW	6	30863598	missense	possibly damaging	0.94
R7132:Copg2	UTSW	6	30815996	missense	probably benign	0.00
R7216:Copg2	UTSW	6	30885600	missense	probably damaging	0.99
R7223:Copg2	UTSW	6	30812754	nonsense	probably null
R7288:Copg2	UTSW	6	30824406	missense	probably damaging	1.00
R7588:Copg2	UTSW	6	30811591	critical splice donor site	probably null
R7993:Copg2	UTSW	6	30816162	missense	probably damaging	1.00
R8005:Copg2	UTSW	6	30896697	start codon destroyed	possibly damaging	0.63
R8191:Copg2	UTSW	6	30813730	missense	probably benign	0.00
R8273:Copg2	UTSW	6	30816126	missense	probably benign	0.05
R8853:Copg2	UTSW	6	30826180	missense	probably benign	0.44
R9377:Copg2	UTSW	6	30816786	missense	possibly damaging	0.92
R9443:Copg2	UTSW	6	30750579	missense	probably benign	0.26
R9451:Copg2	UTSW	6	30816851	splice site	probably benign
R9523:Copg2	UTSW	6	30749506	critical splice acceptor site	probably null
R9583:Copg2	UTSW	6	30810464	nonsense	probably null
R9698:Copg2	UTSW	6	30861438	missense	probably damaging	1.00
Z1177:Copg2	UTSW	6	30809585	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGGTTAGACGCTATATTTACAAG -3'
(R):5'- GCAGCTTATAAGTTTATGAGGCAG -3'

Sequencing Primer
(F):5'- CTCAAAGACAGGAGCCAT -3'
(R):5'- GTAGGCTATCTACAGCTTCCTAATG -3'

Posted On

2022-03-25