Incidental Mutation 'R2974:Cop1'
ID 255306
Institutional Source Beutler Lab
Gene Symbol Cop1
Ensembl Gene ENSMUSG00000040782
Gene Name COP1, E3 ubiquitin ligase
Synonyms Rfwd2, Cop1
MMRRC Submission 040527-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # R2974 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 159059890-159175210 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 159152499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 583 (H583R)
Ref Sequence ENSEMBL: ENSMUSP00000076160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076894]
AlphaFold Q9R1A8
Predicted Effect possibly damaging
Transcript: ENSMUST00000076894
AA Change: H583R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782
AA Change: H583R

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: H122R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194798
Meta Mutation Damage Score 0.8884 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 97% (38/39)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,844,801 (GRCm39) F1508V probably damaging Het
Aoc1l1 A G 6: 48,953,358 (GRCm39) T428A probably benign Het
BC048507 T C 13: 68,011,749 (GRCm39) I42T probably benign Het
Crnkl1 A G 2: 145,774,181 (GRCm39) L94P probably benign Het
Cstdc2 T C 2: 148,692,706 (GRCm39) D32G probably benign Het
Ctu1 A G 7: 43,325,074 (GRCm39) probably benign Het
D930007J09Rik C T 13: 32,986,742 (GRCm39) probably benign Het
Depdc5 T C 5: 33,091,361 (GRCm39) probably null Het
Dnah14 A T 1: 181,582,806 (GRCm39) probably null Het
Dpp10 A G 1: 123,339,434 (GRCm39) probably benign Het
Gsdme A G 6: 50,206,304 (GRCm39) C180R probably damaging Het
Gse1 C A 8: 121,297,636 (GRCm39) probably benign Het
Med15 T C 16: 17,470,575 (GRCm39) Y744C probably damaging Het
Nlrp4d A G 7: 10,112,367 (GRCm39) probably benign Het
Nyap2 C T 1: 81,169,485 (GRCm39) R81* probably null Het
Or4p21 A T 2: 88,276,918 (GRCm39) C121* probably null Het
Or8g30 T C 9: 39,230,292 (GRCm39) N206S probably damaging Het
Phax T A 18: 56,706,134 (GRCm39) M8K probably benign Het
Plec C G 15: 76,072,961 (GRCm39) G631R probably damaging Het
Rgs3 A T 4: 62,558,957 (GRCm39) T476S probably damaging Het
Rogdi G T 16: 4,829,526 (GRCm39) Q90K probably damaging Het
Rxrg G A 1: 167,466,715 (GRCm39) R422H probably damaging Het
Serpinb9e T A 13: 33,439,126 (GRCm39) V184E probably benign Het
Simc1 A G 13: 54,698,274 (GRCm39) D397G probably damaging Het
Slc25a27 T C 17: 43,964,262 (GRCm39) N203D probably damaging Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Sptlc3 A G 2: 139,431,581 (GRCm39) T368A probably damaging Het
Tnip1 C T 11: 54,824,809 (GRCm39) probably benign Het
Tpgs1 A G 10: 79,505,449 (GRCm39) E69G probably damaging Het
Trpv5 T C 6: 41,630,165 (GRCm39) S642G possibly damaging Het
Ube2d2a T A 18: 35,933,225 (GRCm39) D87E possibly damaging Het
Vmn2r117 A G 17: 23,678,830 (GRCm39) V798A probably damaging Het
Vmn2r77 T C 7: 86,452,893 (GRCm39) Y537H 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
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
R5263:Cop1 UTSW 1 159,152,507 (GRCm39) missense probably damaging 1.00
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'- CATCTGAGGGGTAGTTTTCATAAAC -3'
(R):5'- AAGCATAACTTAAGAGGGCCTAAC -3'

Sequencing Primer
(F):5'- TGAGGGGTAGTTTTCATAAACAATAC -3'
(R):5'- AGGAGAATACTCACGCTG -3'
Posted On 2014-12-29