Incidental Mutation 'R4197:Ccno'
ID 318608
Institutional Source Beutler Lab
Gene Symbol Ccno
Ensembl Gene ENSMUSG00000042417
Gene Name cyclin O
Synonyms Ung2, Ccnu
MMRRC Submission 041028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R4197 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 113124363-113127313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113125603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 189 (C189Y)
Ref Sequence ENSEMBL: ENSMUSP00000040083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038404] [ENSMUST00000092089]
AlphaFold P0C242
Predicted Effect probably damaging
Transcript: ENSMUST00000038404
AA Change: C189Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040083
Gene: ENSMUSG00000042417
AA Change: C189Y

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 30 46 N/A INTRINSIC
low complexity region 63 79 N/A INTRINSIC
CYCLIN 140 224 1.23e-19 SMART
Cyclin_C 233 350 3.49e-7 SMART
CYCLIN 244 327 5.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092089
SMART Domains Protein: ENSMUSP00000089721
Gene: ENSMUSG00000074651

DomainStartEndE-ValueType
low complexity region 60 73 N/A INTRINSIC
Pfam:Geminin 169 258 4.8e-20 PFAM
low complexity region 262 272 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225555
Meta Mutation Damage Score 0.4589 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit pre-weaning lethality after E17, hydrocephaly, growth retardation, enlarged brain ventricles, thin cerebral cortex, nasal cavity congestion and impaired formation of deuterosomes and centrioles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd36 T A 5: 18,018,086 (GRCm39) D209V probably damaging Het
Depdc5 T A 5: 33,148,547 (GRCm39) L1561Q possibly damaging Het
Dhx34 G T 7: 15,937,651 (GRCm39) H777N probably damaging Het
Dlat T C 9: 50,547,826 (GRCm39) T610A probably damaging Het
Efcab15 G A 11: 103,091,966 (GRCm39) S94L probably benign Het
Fip1l1 T A 5: 74,696,397 (GRCm39) D19E probably damaging Het
Gm5699 T A 1: 31,037,726 (GRCm39) noncoding transcript Het
Grin2a A C 16: 9,579,831 (GRCm39) F144C probably damaging Het
Klhl18 A T 9: 110,259,012 (GRCm39) probably null Het
Klhl31 T C 9: 77,558,091 (GRCm39) V269A probably damaging Het
Lypd10 A G 7: 24,413,119 (GRCm39) D146G probably benign Het
Mmel1 T C 4: 154,977,761 (GRCm39) I594T probably damaging Het
Myo9a T A 9: 59,802,149 (GRCm39) S1913T probably benign Het
Or6a2 T C 7: 106,600,245 (GRCm39) D274G probably damaging Het
Pcdhb14 A G 18: 37,581,358 (GRCm39) K155E probably benign Het
Pdcd10 A T 3: 75,424,899 (GRCm39) N189K possibly damaging Het
Pde3b T G 7: 114,130,107 (GRCm39) probably benign Het
Plxnb2 T C 15: 89,041,221 (GRCm39) N1775S probably damaging Het
Polr2a T C 11: 69,626,162 (GRCm39) S1625G unknown Het
Ptpn21 G T 12: 98,646,397 (GRCm39) H1020Q probably damaging Het
Rad23b C T 4: 55,385,455 (GRCm39) P331S probably damaging Het
Scel A T 14: 103,836,836 (GRCm39) N475Y probably damaging Het
Sema5a A G 15: 32,619,064 (GRCm39) T531A probably benign Het
Sf3b3 A T 8: 111,548,197 (GRCm39) L679Q probably damaging Het
Sipa1l3 A T 7: 29,100,238 (GRCm39) D10E possibly damaging Het
Slc44a4 G A 17: 35,137,228 (GRCm39) V84I probably benign Het
Slco5a1 G T 1: 12,964,740 (GRCm39) S512R probably damaging Het
Sv2c A T 13: 96,114,636 (GRCm39) F517I probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tnfsf11 A T 14: 78,521,752 (GRCm39) D152E probably benign Het
Trav13n-4 C T 14: 53,601,378 (GRCm39) T49I probably benign Het
Ttn T C 2: 76,716,422 (GRCm39) probably benign Het
Usp34 T C 11: 23,394,189 (GRCm39) S2261P probably damaging Het
Vmn2r87 G A 10: 130,315,779 (GRCm39) P96S possibly damaging Het
Xrcc6 A G 15: 81,913,425 (GRCm39) M353V probably benign Het
Other mutations in Ccno
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Ccno APN 13 113,125,561 (GRCm39) missense probably damaging 1.00
IGL02875:Ccno APN 13 113,124,586 (GRCm39) missense possibly damaging 0.91
R0193:Ccno UTSW 13 113,125,418 (GRCm39) unclassified probably benign
R0329:Ccno UTSW 13 113,126,530 (GRCm39) missense probably damaging 1.00
R0330:Ccno UTSW 13 113,126,530 (GRCm39) missense probably damaging 1.00
R0387:Ccno UTSW 13 113,126,401 (GRCm39) missense probably damaging 1.00
R0556:Ccno UTSW 13 113,124,820 (GRCm39) critical splice donor site probably null
R4683:Ccno UTSW 13 113,125,543 (GRCm39) splice site probably null
R4825:Ccno UTSW 13 113,124,633 (GRCm39) missense probably benign 0.14
R6180:Ccno UTSW 13 113,126,379 (GRCm39) missense probably damaging 1.00
R6574:Ccno UTSW 13 113,124,719 (GRCm39) missense probably benign 0.01
R7871:Ccno UTSW 13 113,124,647 (GRCm39) missense probably benign 0.00
R8142:Ccno UTSW 13 113,125,489 (GRCm39) missense probably damaging 1.00
R8423:Ccno UTSW 13 113,124,678 (GRCm39) missense possibly damaging 0.52
R8829:Ccno UTSW 13 113,126,239 (GRCm39) missense probably benign 0.00
R8832:Ccno UTSW 13 113,126,239 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGAATCGCGCTGTAAACTGC -3'
(R):5'- ACAAGTACCACAAAGCTTTGGTTG -3'

Sequencing Primer
(F):5'- TGTAAACTGCTCAGCTGGC -3'
(R):5'- GCCTAACCTCTTTGTAGTCTGAAAGG -3'
Posted On 2015-06-10