Mutagenetix > Incidental Mutation

Incidental Mutation 'R8297:Cops2'

638999

Institutional Source

Beutler Lab

Gene Symbol

Cops2

Ensembl Gene

ENSMUSG00000027206

Gene Name

COP9 signalosome subunit 2

Synonyms

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

MMRRC Submission

067853-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125672222-125701002 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 125701028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028635] [ENSMUST00000028636] [ENSMUST00000110462] [ENSMUST00000110463] [ENSMUST00000125084]

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: ENSMUST00000028636

SMART Domains

Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207

Domain	Start	End	E-Value	Type
Pfam:GalKase_gal_bdg	13	62	3.8e-26	PFAM
Pfam:GHMP_kinases_N	120	187	1e-15	PFAM
Pfam:GHMP_kinases_C	333	419	6.9e-15	PFAM

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125084

SMART Domains

Protein: ENSMUSP00000119902
Gene: ENSMUSG00000027207

Domain	Start	End	E-Value	Type
Pfam:GalKase_gal_bdg	1	50	7.7e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,578 (GRCm39)	L73P	probably damaging	Het
4933412E24Rik	T	G	15: 59,887,524 (GRCm39)	R305S	probably damaging	Het
Adamts19	T	A	18: 58,970,920 (GRCm39)	V168E	probably damaging	Het
Ankrd34b	T	A	13: 92,576,097 (GRCm39)	L443Q	probably damaging	Het
Ano3	A	G	2: 110,491,616 (GRCm39)	Y887H	probably damaging	Het
Arhgef2	A	T	3: 88,546,739 (GRCm39)	H553L	probably benign	Het
Atxn1	G	T	13: 45,720,505 (GRCm39)	N463K	probably benign	Het
Birc6	A	G	17: 74,932,099 (GRCm39)		probably null	Het
C4bp	A	G	1: 130,564,482 (GRCm39)	S401P	probably damaging	Het
Cd5	T	A	19: 10,697,609 (GRCm39)	R457W	probably damaging	Het
Chek2	T	G	5: 110,996,302 (GRCm39)	Y127D	probably damaging	Het
Clec4a1	G	A	6: 122,898,960 (GRCm39)	V10M	probably damaging	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Cyb5d2	A	G	11: 72,679,929 (GRCm39)	F122S	probably damaging	Het
Daam1	T	A	12: 71,998,689 (GRCm39)	L548H	unknown	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dsg1a	A	C	18: 20,465,090 (GRCm39)	N427T	probably benign	Het
Ear14	A	T	14: 51,441,564 (GRCm39)	D140V	probably damaging	Het
Epha4	A	C	1: 77,483,547 (GRCm39)	F154C	probably damaging	Het
Ets2	G	A	16: 95,507,321 (GRCm39)	V12M	probably damaging	Het
Fbxo40	G	A	16: 36,789,670 (GRCm39)	T480I	probably damaging	Het
Fdps	A	T	3: 89,001,048 (GRCm39)	Y322N	probably damaging	Het
Gca	T	C	2: 62,516,700 (GRCm39)	M132T	probably benign	Het
Ifi203	T	G	1: 173,765,496 (GRCm39)	K26T	probably damaging	Het
Itga10	A	G	3: 96,562,116 (GRCm39)	R668G	probably damaging	Het
Itgal	T	C	7: 126,929,638 (GRCm39)	I1185T	unknown	Het
Kcnj13	A	T	1: 87,314,189 (GRCm39)	N344K	probably damaging	Het
Kdm5a	A	T	6: 120,358,516 (GRCm39)	L186F	probably benign	Het
Klhl8	T	C	5: 104,010,954 (GRCm39)	N624D	probably benign	Het
Klrb1	G	T	6: 128,689,222 (GRCm39)	T83K	possibly damaging	Het
Krt77	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	15: 101,768,407 (GRCm39)		probably benign	Het
Ltb	G	T	17: 35,413,655 (GRCm39)	R53L	probably benign	Het
Mterf3	A	G	13: 67,055,222 (GRCm39)	V69A		Het
Mvb12a	A	G	8: 71,997,888 (GRCm39)	K101E	probably damaging	Het
Nbeal2	T	A	9: 110,464,409 (GRCm39)	Q1110L	possibly damaging	Het
Neb	T	A	2: 52,198,775 (GRCm39)	T389S	possibly damaging	Het
Nol4	A	G	18: 23,173,069 (GRCm39)	F11L	probably damaging	Het
Or10p22	T	C	10: 128,826,708 (GRCm39)	L309P	possibly damaging	Het
Or2a54	A	G	6: 43,093,440 (GRCm39)	I255V	probably benign	Het
Or2h15	A	G	17: 38,441,484 (GRCm39)	S200P	probably damaging	Het
Or52e8b	C	T	7: 104,673,885 (GRCm39)	G97R	probably benign	Het
Pde2a	T	A	7: 101,153,880 (GRCm39)	Y487N	possibly damaging	Het
Pde4a	C	T	9: 21,077,404 (GRCm39)	P61S	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Prr5l	A	G	2: 101,571,630 (GRCm39)		probably null	Het
Ptpn6	G	A	6: 124,705,614 (GRCm39)	T179I	possibly damaging	Het
Ralyl	T	C	3: 14,104,836 (GRCm39)	S34P	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Robo2	A	T	16: 73,812,814 (GRCm39)	C293*	probably null	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Slc22a22	A	T	15: 57,122,506 (GRCm39)	V157E	probably damaging	Het
Sytl2	A	G	7: 90,034,283 (GRCm39)	T498A	probably benign	Het
Tgm6	G	A	2: 129,979,358 (GRCm39)	V163I	probably benign	Het
Tnpo3	A	T	6: 29,582,302 (GRCm39)	C187S	possibly damaging	Het
Ttn	A	G	2: 76,616,485 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,336,905 (GRCm39)	A210T	possibly damaging	Het
Vangl2	C	A	1: 171,837,513 (GRCm39)	V99F	possibly damaging	Het
Vmn1r167	C	T	7: 23,204,215 (GRCm39)	C267Y	probably damaging	Het
Vsig10l	T	C	7: 43,113,531 (GRCm39)	V161A	possibly damaging	Het
Xrcc5	G	A	1: 72,364,244 (GRCm39)	R232Q	possibly damaging	Het
Xrcc6	C	G	15: 81,913,463 (GRCm39)	F365L	probably damaging	Het
Zdhhc13	A	G	7: 48,465,257 (GRCm39)	Y389C	probably damaging	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
IGL02930:Cops2	APN	2	125,674,109 (GRCm39)	utr 3 prime	probably benign
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
R9642:Cops2	UTSW	2	125,682,410 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGTCGTAGTCCTCCTCATC -3'
(R):5'- TAGAAACAGACGGTTCCAGAGTCC -3'

Sequencing Primer
(F):5'- TCATCGCACATGAAATCATCCTC -3'
(R):5'- TCACCTAGGACGCTGGATAC -3'

Posted On

2020-07-28