Incidental Mutation 'R8038:Cops2'
ID 618318
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 067475-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8038 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 125672222-125701002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125674206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 420 (H420Q)
Ref Sequence ENSEMBL: ENSMUSP00000106090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028635] [ENSMUST00000110462] [ENSMUST00000110463]
AlphaFold P61202
Predicted Effect probably benign
Transcript: ENSMUST00000028635
AA Change: H413Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028635
Gene: ENSMUSG00000027206
AA Change: H413Q

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: H372Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106089
Gene: ENSMUSG00000027206
AA Change: H372Q

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: H420Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106090
Gene: ENSMUSG00000027206
AA Change: H420Q

DomainStartEndE-ValueType
low complexity region 1 27 N/A INTRINSIC
PAM 176 350 1.08e-64 SMART
PINT 352 434 4.24e-26 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,106,730 (GRCm39) M143K probably damaging Het
Accs A T 2: 93,673,262 (GRCm39) probably null Het
Alkbh5 T C 11: 60,429,811 (GRCm39) V188A probably damaging Het
Cacna1h C T 17: 25,594,865 (GRCm39) V2098I probably damaging Het
Chuk A G 19: 44,067,416 (GRCm39) Y580H probably damaging Het
Col7a1 A G 9: 108,786,360 (GRCm39) N530S unknown Het
Ctcfl A T 2: 172,943,698 (GRCm39) C551S probably damaging Het
Depdc5 T C 5: 33,116,692 (GRCm39) probably null Het
Dnmt1 A C 9: 20,852,860 (GRCm39) V82G probably damaging Het
Fam90a1a A T 8: 22,453,455 (GRCm39) N270I possibly damaging Het
Foxn4 T C 5: 114,394,658 (GRCm39) D423G probably damaging Het
Hoxa5 A G 6: 52,181,309 (GRCm39) S8P probably damaging Het
Ighe A T 12: 113,233,053 (GRCm39) V456D Het
Ighv1-52 A G 12: 115,109,210 (GRCm39) F83S probably damaging Het
Itga2 A T 13: 114,990,291 (GRCm39) N921K probably damaging Het
Kdm2b T C 5: 123,098,958 (GRCm39) probably benign Het
Llgl2 T G 11: 115,741,929 (GRCm39) M657R probably benign Het
Lrrcc1 T A 3: 14,630,890 (GRCm39) I1019K possibly damaging Het
Lrriq3 A T 3: 154,869,638 (GRCm39) D321V probably benign Het
Lsm10 T C 4: 125,991,890 (GRCm39) V82A probably damaging Het
Mettl3 A G 14: 52,537,421 (GRCm39) S154P possibly damaging Het
Naip2 T C 13: 100,298,570 (GRCm39) I489V probably benign Het
Nat8f5 T A 6: 85,794,667 (GRCm39) T98S possibly damaging Het
Or10w1 G A 19: 13,632,719 (GRCm39) V309M possibly damaging Het
Or4c113 A T 2: 88,885,212 (GRCm39) L186Q probably damaging Het
Or7e166 G T 9: 19,624,976 (GRCm39) M284I possibly damaging Het
Or8d6 T A 9: 39,854,177 (GRCm39) V207D probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pld5 T C 1: 175,872,463 (GRCm39) I225V probably benign Het
Ppfia1 C A 7: 144,068,653 (GRCm39) A414S possibly damaging Het
Ppib T C 9: 65,967,615 (GRCm39) V23A probably benign Het
Rabggta A T 14: 55,956,387 (GRCm39) S361T probably benign Het
Rap1gap2 T C 11: 74,283,109 (GRCm39) S664G probably benign Het
Recql5 A G 11: 115,818,178 (GRCm39) V285A possibly damaging Het
Rtn4rl1 G C 11: 75,156,707 (GRCm39) E380Q possibly damaging Het
Scarb2 A T 5: 92,599,307 (GRCm39) S338T probably damaging Het
Skint4 T G 4: 111,977,003 (GRCm39) probably benign Het
Slc13a5 T C 11: 72,144,196 (GRCm39) K294R probably benign Het
Spib A G 7: 44,179,310 (GRCm39) F32S probably benign Het
Spint2 A G 7: 28,959,554 (GRCm39) probably benign Het
Sycp2 A T 2: 178,045,571 (GRCm39) D16E probably damaging Het
Tab1 A G 15: 80,044,471 (GRCm39) T500A probably benign Het
Tecpr2 T C 12: 110,902,854 (GRCm39) F860L probably benign Het
Tg A G 15: 66,560,724 (GRCm39) M1029V probably benign Het
Tmem126b C T 7: 90,118,830 (GRCm39) V153I probably benign Het
Uba2 A T 7: 33,847,022 (GRCm39) Y440N probably damaging Het
Vwa2 A G 19: 56,886,320 (GRCm39) E129G probably benign Het
Wapl A G 14: 34,413,639 (GRCm39) D167G probably benign Het
Zfp64 A G 2: 168,741,932 (GRCm39) F332S probably damaging Het
Zfp786 C T 6: 47,798,188 (GRCm39) R250H probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTGGAGCTTTGTCTTTCCAG -3'
(R):5'- CACTTGTTAGAAGTAGGCAAAGC -3'

Sequencing Primer
(F):5'- AGTCCTCAAGGGTCACATCTCTG -3'
(R):5'- TTAGAAGTAGGCAAAGCAGGTTTGG -3'
Posted On 2020-01-23