Incidental Mutation 'R7012:Cops5'
ID 568377
Institutional Source Beutler Lab
Gene Symbol Cops5
Ensembl Gene ENSMUSG00000025917
Gene Name COP9 signalosome subunit 5
Synonyms COP9 complex S5, CSN5, Sgn5, JUN activation binding protein, Jab1
MMRRC Submission 045113-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7012 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 10094825-10108384 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 10100890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 147 (*147Q)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027050] [ENSMUST00000186528] [ENSMUST00000188619]
AlphaFold O35864
Predicted Effect silent
Transcript: ENSMUST00000027050
SMART Domains Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917

DomainStartEndE-ValueType
Blast:JAB_MPN 8 49 8e-12 BLAST
JAB_MPN 54 191 1.19e-52 SMART
Blast:JAB_MPN 192 249 5e-30 BLAST
low complexity region 250 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186528
Predicted Effect probably benign
Transcript: ENSMUST00000188619
SMART Domains Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917

DomainStartEndE-ValueType
JAB_MPN 37 174 5.3e-55 SMART
Predicted Effect probably null
Transcript: ENSMUST00000190155
AA Change: *147Q
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die soon after implantation and exhibit growth-retardation, decrease in cell proliferation, and an increase in cell apoptosis. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(12)
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,769,431 (GRCm39) F686L probably benign Het
Adcy4 C T 14: 56,017,376 (GRCm39) V266I possibly damaging Het
Adgrb1 A G 15: 74,401,750 (GRCm39) T249A probably damaging Het
Adss1 A G 12: 112,600,670 (GRCm39) D213G probably benign Het
Ap1b1 T G 11: 4,980,963 (GRCm39) V453G probably damaging Het
Apold1 G A 6: 134,961,007 (GRCm39) G154R probably damaging Het
Birc5 A G 11: 117,740,262 (GRCm39) E29G probably benign Het
Clcn1 G A 6: 42,267,542 (GRCm39) R75H probably benign Het
Cngb1 T A 8: 95,984,583 (GRCm39) I868F possibly damaging Het
Cntn6 T A 6: 104,703,223 (GRCm39) V215E probably damaging Het
Cntn6 A G 6: 104,751,441 (GRCm39) I294V probably benign Het
Col6a2 A T 10: 76,450,511 (GRCm39) I140N possibly damaging Het
Dbr1 T A 9: 99,465,374 (GRCm39) Y317* probably null Het
Dock5 A C 14: 68,060,035 (GRCm39) V468G probably damaging Het
F13b A G 1: 139,444,096 (GRCm39) I477V probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Git1 T C 11: 77,390,606 (GRCm39) L114P probably damaging Het
Greb1l G T 18: 10,529,707 (GRCm39) probably null Het
Itih4 A G 14: 30,612,706 (GRCm39) N244S probably benign Het
Lin28a A G 4: 133,746,040 (GRCm39) S5P probably damaging Het
Lipt1 T C 1: 37,915,060 (GRCm39) I372T probably benign Het
Lysmd4 A G 7: 66,875,765 (GRCm39) T143A probably benign Het
Muc16 T C 9: 18,406,914 (GRCm39) probably null Het
Or13c9 A G 4: 52,936,193 (GRCm39) L30P probably damaging Het
Or2y1g A T 11: 49,171,823 (GRCm39) M283L probably benign Het
Or5t16 A T 2: 86,819,051 (GRCm39) H156Q possibly damaging Het
Or6e1 A G 14: 54,519,674 (GRCm39) I226T possibly damaging Het
Pclo G A 5: 14,800,493 (GRCm39) G4438D unknown Het
Phlpp2 T A 8: 110,603,486 (GRCm39) F51I possibly damaging Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rxfp2 T C 5: 150,004,659 (GRCm39) V711A probably benign Het
Sbno2 A T 10: 79,905,352 (GRCm39) probably benign Het
Setd2 T A 9: 110,376,751 (GRCm39) S189T probably damaging Het
Sez6 A G 11: 77,868,621 (GRCm39) N965S probably benign Het
Sh3d19 A G 3: 85,992,320 (GRCm39) N116S probably benign Het
Slc43a3 T C 2: 84,777,313 (GRCm39) Y221H probably damaging Het
Slco1a6 T C 6: 142,032,287 (GRCm39) I613V probably benign Het
Stag3 T A 5: 138,295,871 (GRCm39) probably null Het
Ston1 T C 17: 88,943,413 (GRCm39) M273T probably damaging Het
Tbc1d32 A T 10: 56,100,820 (GRCm39) Y53N probably damaging Het
Tmem132b T A 5: 125,775,654 (GRCm39) L376Q probably damaging Het
Trim60 A G 8: 65,453,043 (GRCm39) V402A possibly damaging Het
Tssk5 A C 15: 76,257,745 (GRCm39) N178K probably damaging Het
Ttll9 T C 2: 152,844,982 (GRCm39) I450T possibly damaging Het
Tyw1 T G 5: 130,306,571 (GRCm39) probably null Het
Usp16 T C 16: 87,255,632 (GRCm39) probably null Het
Vmn2r97 T C 17: 19,167,756 (GRCm39) V670A probably damaging Het
Vmn2r98 A G 17: 19,286,530 (GRCm39) N343D probably benign Het
Zfp472 T G 17: 33,196,220 (GRCm39) N98K probably benign Het
Other mutations in Cops5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Cops5 APN 1 10,104,295 (GRCm39) missense probably damaging 1.00
IGL01759:Cops5 APN 1 10,097,474 (GRCm39) missense probably damaging 0.99
IGL02141:Cops5 APN 1 10,105,342 (GRCm39) missense probably damaging 1.00
IGL02492:Cops5 APN 1 10,097,377 (GRCm39) missense probably benign
R1491:Cops5 UTSW 1 10,104,243 (GRCm39) missense possibly damaging 0.88
R2055:Cops5 UTSW 1 10,102,562 (GRCm39) critical splice donor site probably null
R4163:Cops5 UTSW 1 10,100,912 (GRCm39) missense probably damaging 1.00
R5945:Cops5 UTSW 1 10,108,235 (GRCm39) utr 5 prime probably benign
R6295:Cops5 UTSW 1 10,100,920 (GRCm39) utr 3 prime probably benign
R6419:Cops5 UTSW 1 10,103,532 (GRCm39) missense probably damaging 1.00
R6487:Cops5 UTSW 1 10,108,004 (GRCm39) missense probably benign 0.13
R6817:Cops5 UTSW 1 10,100,829 (GRCm39) missense probably benign 0.03
R9588:Cops5 UTSW 1 10,108,222 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGTGATCCCAACACTCAAGGC -3'
(R):5'- AGATTTAGAGCCATACCACTTGAAG -3'

Sequencing Primer
(F):5'- AGCCTGACAACCTGAGTTTG -3'
(R):5'- GGTGTAGAGAAAACTTCTATCC -3'
Posted On 2019-07-11