Incidental Mutation 'IGL02678:Cops2'
ID 303259
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 # IGL02678
Quality Score
Status
Chromosome 2
Chromosomal Location 125672222-125701002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125686831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 91 (R91G)
Ref Sequence ENSEMBL: ENSMUSP00000106089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028635] [ENSMUST00000110462] [ENSMUST00000110463]
AlphaFold P61202
Predicted Effect probably benign
Transcript: ENSMUST00000028635
AA Change: R91G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028635
Gene: ENSMUSG00000027206
AA Change: R91G

DomainStartEndE-ValueType
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
AA Change: R91G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106089
Gene: ENSMUSG00000027206
AA Change: R91G

DomainStartEndE-ValueType
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
AA Change: R91G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106090
Gene: ENSMUSG00000027206
AA Change: R91G

DomainStartEndE-ValueType
low complexity region 1 27 N/A INTRINSIC
PAM 176 350 1.08e-64 SMART
PINT 352 434 4.24e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152683
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,035,867 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,410,177 (GRCm39) E272G probably damaging Het
Alcam G A 16: 52,094,401 (GRCm39) P416S probably damaging Het
B3galt1 A G 2: 67,949,254 (GRCm39) H323R probably benign Het
Bahcc1 G A 11: 120,163,697 (GRCm39) S665N probably damaging Het
Birc6 T C 17: 74,956,898 (GRCm39) S3631P probably damaging Het
Capn3 A C 2: 120,333,479 (GRCm39) N621T probably damaging Het
Cblif T C 19: 11,725,839 (GRCm39) M43T probably damaging Het
Ccdc162 G A 10: 41,437,151 (GRCm39) H480Y probably damaging Het
Ccr2 T A 9: 123,906,783 (GRCm39) D354E probably benign Het
Cdc42bpb T G 12: 111,292,530 (GRCm39) D335A probably damaging Het
Cdcp3 A G 7: 130,830,646 (GRCm39) Y360C probably damaging Het
Chrd G T 16: 20,552,770 (GRCm39) R89L probably damaging Het
Ddi1 T C 9: 6,266,106 (GRCm39) T88A probably benign Het
Dnai1 A C 4: 41,602,917 (GRCm39) E140A probably benign Het
Eif1ad17 C A 12: 87,978,946 (GRCm39) P110Q possibly damaging Het
Gcn1 A G 5: 115,751,814 (GRCm39) D2063G probably damaging Het
Gdpd4 A T 7: 97,623,584 (GRCm39) probably benign Het
Gng7 C A 10: 80,787,518 (GRCm39) L48F probably damaging Het
Htt G T 5: 35,057,246 (GRCm39) C2725F probably damaging Het
Inpp4b A G 8: 82,583,373 (GRCm39) K159R probably damaging Het
Insr G T 8: 3,223,570 (GRCm39) N854K probably benign Het
Ktn1 A T 14: 47,971,610 (GRCm39) probably null Het
Lcat A G 8: 106,668,572 (GRCm39) probably null Het
Mb21d2 T C 16: 28,646,801 (GRCm39) E391G probably benign Het
Mms19 A G 19: 41,942,915 (GRCm39) S354P possibly damaging Het
Mx2 G A 16: 97,357,320 (GRCm39) probably null Het
Mycl G A 4: 122,893,776 (GRCm39) R192Q probably damaging Het
Mzf1 A G 7: 12,786,836 (GRCm39) V78A probably benign Het
Nipbl G T 15: 8,380,594 (GRCm39) P733T possibly damaging Het
Nploc4 A G 11: 120,280,198 (GRCm39) I450T probably benign Het
Omd A T 13: 49,745,757 (GRCm39) E389V probably benign Het
Or8g30 C T 9: 39,230,217 (GRCm39) S231N probably benign Het
Oxgr1 A G 14: 120,259,580 (GRCm39) L209P probably damaging Het
Pak1 A C 7: 97,543,209 (GRCm39) T291P probably damaging Het
Pcmtd1 T A 1: 7,240,045 (GRCm39) I338K probably damaging Het
Phrf1 A G 7: 140,840,195 (GRCm39) D364G probably damaging Het
Pomk G A 8: 26,473,135 (GRCm39) P273S probably damaging Het
Psg22 A T 7: 18,453,418 (GRCm39) I38F probably damaging Het
Rbks G T 5: 31,830,757 (GRCm39) T42N probably damaging Het
Rrbp1 A G 2: 143,832,107 (GRCm39) V20A probably damaging Het
Six4 T C 12: 73,159,408 (GRCm39) Y176C probably damaging Het
Slc11a2 T A 15: 100,310,081 (GRCm39) M9L possibly damaging Het
Slc16a11 T C 11: 70,106,242 (GRCm39) L112S probably damaging Het
Slc25a28 A T 19: 43,655,586 (GRCm39) probably benign Het
Slc30a3 G A 5: 31,245,676 (GRCm39) R237* probably null Het
Slco1a8 A T 6: 141,954,444 (GRCm39) Y10N probably damaging Het
Smc1b G A 15: 84,949,201 (GRCm39) R1237* probably null Het
Smtn T C 11: 3,476,353 (GRCm39) E585G possibly damaging Het
Spatc1 A T 15: 76,176,572 (GRCm39) D441V probably damaging Het
Tenm4 A G 7: 96,545,426 (GRCm39) N2481D probably damaging Het
Tnks2 A T 19: 36,823,143 (GRCm39) I137F possibly damaging Het
Trip11 T C 12: 101,849,649 (GRCm39) K1472E probably damaging Het
Ttn C A 2: 76,708,660 (GRCm39) E1846* probably null Het
Vwa8 A G 14: 79,221,640 (GRCm39) D532G probably damaging Het
Zfp268 A T 4: 145,349,067 (GRCm39) H168L probably damaging Het
Zfp977 G A 7: 42,232,419 (GRCm39) T14I probably damaging Het
Other mutations in Cops2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Cops2 APN 2 125,674,163 (GRCm39) missense probably benign
IGL02496:Cops2 APN 2 125,678,163 (GRCm39) splice site probably benign
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
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 2015-04-16