Incidental Mutation 'R5263:Cop1'
ID 401536
Institutional Source Beutler Lab
Gene Symbol Cop1
Ensembl Gene ENSMUSG00000040782
Gene Name COP1, E3 ubiquitin ligase
Synonyms Rfwd2, Cop1
MMRRC Submission 042831-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # R5263 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 159059890-159175210 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 159152507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 586 (D586N)
Ref Sequence ENSEMBL: ENSMUSP00000076160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076894]
AlphaFold Q9R1A8
Predicted Effect probably damaging
Transcript: ENSMUST00000076894
AA Change: D586N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782
AA Change: D586N

DomainStartEndE-ValueType
low complexity region 2 87 N/A INTRINSIC
low complexity region 98 112 N/A INTRINSIC
RING 138 175 3.69e-8 SMART
coiled coil region 235 305 N/A INTRINSIC
WD40 412 451 1.72e0 SMART
WD40 462 501 3.4e-2 SMART
WD40 504 544 3.42e-7 SMART
WD40 547 586 6.79e-2 SMART
WD40 590 628 1.9e-5 SMART
WD40 631 670 4.46e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000192044
AA Change: D125N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194798
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 G T 3: 138,133,816 (GRCm39) V309L probably benign Het
Agmo T C 12: 37,407,680 (GRCm39) V188A probably benign Het
Aqr A G 2: 113,947,059 (GRCm39) M1041T probably damaging Het
Arhgef4 T A 1: 34,764,078 (GRCm39) S1111R possibly damaging Het
Ascc3 A C 10: 50,592,757 (GRCm39) E1144D probably benign Het
Cct3 T C 3: 88,228,672 (GRCm39) probably null Het
Cd209f T C 8: 4,154,506 (GRCm39) T114A probably benign Het
Cgnl1 G A 9: 71,539,936 (GRCm39) Q1103* probably null Het
Dcaf5 A G 12: 80,395,120 (GRCm39) S350P probably damaging Het
Dhx29 T C 13: 113,084,755 (GRCm39) C658R probably damaging Het
Dync1i1 G A 6: 5,969,446 (GRCm39) V424I possibly damaging Het
Gfap C T 11: 102,787,756 (GRCm39) R63Q probably damaging Het
Gm10563 CTTT CTTTATTT 4: 155,698,940 (GRCm39) probably null Het
Gprc6a C A 10: 51,502,900 (GRCm39) G321V probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Izumo1r A G 9: 14,812,976 (GRCm39) C99R probably damaging Het
Lrp1b T C 2: 41,850,691 (GRCm39) D102G probably damaging Het
Mettl4 G A 17: 95,047,937 (GRCm39) Q235* probably null Het
Mmrn2 A G 14: 34,121,541 (GRCm39) T804A probably benign Het
Mrgprb5 A G 7: 47,817,937 (GRCm39) V266A probably damaging Het
Ntng1 T C 3: 109,842,188 (GRCm39) D195G probably damaging Het
Pld4 T C 12: 112,731,465 (GRCm39) L206P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkd1 A G 12: 50,435,089 (GRCm39) L546P probably damaging Het
Rhob A T 12: 8,549,232 (GRCm39) M134K probably benign Het
Ryr3 A G 2: 112,548,347 (GRCm39) S3087P possibly damaging Het
Sema6c T C 3: 95,080,463 (GRCm39) L887P probably benign Het
Sltm T C 9: 70,492,081 (GRCm39) S648P unknown Het
Sucnr1 A G 3: 59,994,190 (GRCm39) I239M possibly damaging Het
Tgtp2 T A 11: 48,950,090 (GRCm39) M161L probably damaging Het
Trpm7 A G 2: 126,663,137 (GRCm39) V1037A probably benign Het
Vmn2r13 A T 5: 109,321,841 (GRCm39) H285Q probably benign Het
Zfp971 T A 2: 177,675,555 (GRCm39) C385S probably damaging Het
Zfpm2 T A 15: 40,962,791 (GRCm39) V283E probably benign Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Cop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02572:Cop1 APN 1 159,136,448 (GRCm39) unclassified probably benign
IGL02945:Cop1 APN 1 159,134,259 (GRCm39) missense probably benign 0.20
IGL03059:Cop1 APN 1 159,134,279 (GRCm39) missense probably damaging 1.00
R0032:Cop1 UTSW 1 159,152,606 (GRCm39) critical splice donor site probably null
R0179:Cop1 UTSW 1 159,077,636 (GRCm39) missense probably benign 0.20
R0846:Cop1 UTSW 1 159,147,386 (GRCm39) missense probably benign 0.26
R0988:Cop1 UTSW 1 159,072,242 (GRCm39) missense probably damaging 1.00
R0988:Cop1 UTSW 1 159,060,417 (GRCm39) missense possibly damaging 0.76
R2296:Cop1 UTSW 1 159,072,220 (GRCm39) missense possibly damaging 0.92
R2297:Cop1 UTSW 1 159,080,124 (GRCm39) missense possibly damaging 0.53
R2504:Cop1 UTSW 1 159,060,375 (GRCm39) missense probably damaging 0.98
R2974:Cop1 UTSW 1 159,152,499 (GRCm39) missense possibly damaging 0.95
R4889:Cop1 UTSW 1 159,112,159 (GRCm39) missense probably damaging 1.00
R4965:Cop1 UTSW 1 159,067,167 (GRCm39) missense probably damaging 0.99
R4981:Cop1 UTSW 1 159,152,638 (GRCm39) unclassified probably benign
R5124:Cop1 UTSW 1 159,105,682 (GRCm39) missense probably damaging 0.96
R5268:Cop1 UTSW 1 159,154,734 (GRCm39) missense probably damaging 1.00
R5470:Cop1 UTSW 1 159,094,430 (GRCm39) intron probably benign
R5595:Cop1 UTSW 1 159,077,643 (GRCm39) missense probably benign 0.00
R5919:Cop1 UTSW 1 159,147,294 (GRCm39) missense probably damaging 1.00
R6386:Cop1 UTSW 1 159,116,601 (GRCm39) missense probably damaging 1.00
R6865:Cop1 UTSW 1 159,136,524 (GRCm39) missense probably damaging 1.00
R6995:Cop1 UTSW 1 159,134,154 (GRCm39) missense probably damaging 1.00
R7056:Cop1 UTSW 1 159,077,647 (GRCm39) missense probably damaging 0.98
R7146:Cop1 UTSW 1 159,071,922 (GRCm39) splice site probably null
R7242:Cop1 UTSW 1 159,112,118 (GRCm39) missense probably benign 0.00
R7309:Cop1 UTSW 1 159,134,195 (GRCm39) missense probably damaging 0.98
R8495:Cop1 UTSW 1 159,077,600 (GRCm39) missense probably benign 0.01
R9125:Cop1 UTSW 1 159,067,187 (GRCm39) missense probably damaging 1.00
R9180:Cop1 UTSW 1 159,147,339 (GRCm39) missense probably damaging 1.00
R9269:Cop1 UTSW 1 159,116,553 (GRCm39) missense probably benign 0.28
R9337:Cop1 UTSW 1 159,072,221 (GRCm39) missense probably benign 0.17
R9696:Cop1 UTSW 1 159,076,783 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCTGGACCTAGTTTCTTC -3'
(R):5'- GCTATTTGAGAAAGTAATCCAAGGTCC -3'

Sequencing Primer
(F):5'- CTGCTTGCTTTTGTTAGGCTAAAAC -3'
(R):5'- CAAGGAGAATACTCACGC -3'
Posted On 2016-07-06