Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02930:Cops2'

364072

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cops2

Ensembl Gene

ENSMUSG00000027206

Gene Name

COP9 signalosome subunit 2

Synonyms

alien homologue, Csn2, Trip15, alien-like, Sgn2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02930

Quality Score

Status

Chromosome

Chromosomal Location

125672222-125701002 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 125674109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028635] [ENSMUST00000110462] [ENSMUST00000110463]

AlphaFold

P61202

Predicted Effect

probably benign
Transcript: ENSMUST00000028635

SMART Domains

Protein: ENSMUSP00000028635
Gene: ENSMUSG00000027206

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
PAM	169	343	1.08e-64	SMART
PINT	345	427	4.24e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110462

SMART Domains

Protein: ENSMUSP00000106089
Gene: ENSMUSG00000027206

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
PAM	140	302	1.59e-30	SMART
PINT	304	386	4.24e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110463

SMART Domains

Protein: ENSMUSP00000106090
Gene: ENSMUSG00000027206

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
PAM	176	350	1.08e-64	SMART
PINT	352	434	4.24e-26	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos very soon after implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,226 (GRCm39)	N3433S	possibly damaging	Het
Actl9	T	C	17: 33,653,073 (GRCm39)	S378P	probably damaging	Het
Aldh6a1	C	A	12: 84,480,756 (GRCm39)	L426F	possibly damaging	Het
Ankef1	T	C	2: 136,392,245 (GRCm39)	I478T	possibly damaging	Het
Cabs1	A	G	5: 88,127,745 (GRCm39)	D132G	probably damaging	Het
Ccdc39	T	C	3: 33,879,643 (GRCm39)	E475G	probably damaging	Het
Cmtm2b	A	C	8: 105,056,402 (GRCm39)	M104L	probably benign	Het
Dnajc4	C	A	19: 6,966,801 (GRCm39)	V176F	possibly damaging	Het
Eepd1	A	G	9: 25,394,536 (GRCm39)	N267D	probably damaging	Het
Elobl	T	G	11: 88,856,012 (GRCm39)	D17A	possibly damaging	Het
Erich6	G	A	3: 58,529,775 (GRCm39)		probably benign	Het
Flna	G	A	X: 73,267,506 (GRCm39)	R2548C	probably damaging	Het
Gm6878	T	G	14: 67,548,439 (GRCm39)		probably benign	Het
Gpc1	G	T	1: 92,785,021 (GRCm39)	E355*	probably null	Het
Islr	C	T	9: 58,065,483 (GRCm39)		probably benign	Het
Mex3a	A	T	3: 88,443,532 (GRCm39)	I203L	probably benign	Het
Or5p58	A	T	7: 107,694,621 (GRCm39)	I52N	probably damaging	Het
Or6c88	T	C	10: 129,407,184 (GRCm39)	I220T	probably damaging	Het
Or8g24	G	T	9: 38,989,308 (GRCm39)	H244Q	probably damaging	Het
Prokr2	T	C	2: 132,215,394 (GRCm39)	S195G	probably benign	Het
Pyroxd1	A	T	6: 142,304,778 (GRCm39)	D335V	probably damaging	Het
Rps6kl1	T	C	12: 85,196,548 (GRCm39)	T39A	probably benign	Het
Rusc2	G	A	4: 43,416,376 (GRCm39)	A561T	probably damaging	Het
Sel1l3	A	C	5: 53,280,559 (GRCm39)	V937G	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,367,161 (GRCm39)	T382A	possibly damaging	Het
Tbx21	A	G	11: 96,990,865 (GRCm39)	I271T	probably damaging	Het
Timeless	T	C	10: 128,083,060 (GRCm39)	V632A	probably benign	Het
Tle3	A	G	9: 61,301,981 (GRCm39)	N67S	possibly damaging	Het
Tln2	G	A	9: 67,300,944 (GRCm39)	R95*	probably null	Het
Trim24	A	G	6: 37,928,380 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,196,537 (GRCm39)	D1253E	probably benign	Het
Vmn1r8	A	G	6: 57,013,579 (GRCm39)	K210R	probably benign	Het

Other mutations in Cops2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02135:Cops2	APN	2	125,674,163 (GRCm39)	missense	probably benign
IGL02496:Cops2	APN	2	125,678,163 (GRCm39)	splice site	probably benign
IGL02678:Cops2	APN	2	125,686,831 (GRCm39)	missense	probably benign	0.30
R4634:Cops2	UTSW	2	125,682,400 (GRCm39)	missense	probably damaging	1.00
R6344:Cops2	UTSW	2	125,700,899 (GRCm39)	unclassified	probably benign
R8038:Cops2	UTSW	2	125,674,206 (GRCm39)	missense	probably benign	0.00
R8287:Cops2	UTSW	2	125,701,037 (GRCm39)	unclassified	probably benign
R8297:Cops2	UTSW	2	125,701,028 (GRCm39)	unclassified	probably benign
R9642:Cops2	UTSW	2	125,682,410 (GRCm39)	missense	probably benign	0.01

Posted On

2015-12-18