Incidental Mutation 'R8423:Ccno'
ID 653320
Institutional Source Beutler Lab
Gene Symbol Ccno
Ensembl Gene ENSMUSG00000042417
Gene Name cyclin O
Synonyms Ung2, Ccnu
MMRRC Submission 067899-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R8423 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 113124363-113127313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113124678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 83 (S83G)
Ref Sequence ENSEMBL: ENSMUSP00000040083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038404]
AlphaFold P0C242
Predicted Effect possibly damaging
Transcript: ENSMUST00000038404
AA Change: S83G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040083
Gene: ENSMUSG00000042417
AA Change: S83G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (46/47)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A G 12: 113,454,530 (GRCm39) D449G possibly damaging Het
Ampd1 T C 3: 102,988,305 (GRCm39) S83P probably benign Het
Bub1 G A 2: 127,649,750 (GRCm39) L703F probably benign Het
C1rb T A 6: 124,551,617 (GRCm39) D242E probably damaging Het
Carf T A 1: 60,189,752 (GRCm39) L659Q possibly damaging Het
Carmil3 A G 14: 55,736,522 (GRCm39) N662S probably damaging Het
Chd3 A T 11: 69,245,252 (GRCm39) Y1155* probably null Het
Clec16a A G 16: 10,394,527 (GRCm39) E295G probably benign Het
Clnk A G 5: 38,952,253 (GRCm39) probably null Het
Clvs2 T C 10: 33,498,855 (GRCm39) D25G possibly damaging Het
Cnr2 C T 4: 135,644,827 (GRCm39) R302W probably damaging Het
Col20a1 A G 2: 180,640,498 (GRCm39) T594A probably damaging Het
Dclk3 C T 9: 111,297,787 (GRCm39) R444W possibly damaging Het
Dmxl1 T C 18: 49,998,183 (GRCm39) V761A probably damaging Het
Dnah7a C A 1: 53,512,063 (GRCm39) K2999N possibly damaging Het
Dusp28 T C 1: 92,834,906 (GRCm39) S44P probably damaging Het
Enpep T G 3: 129,102,774 (GRCm39) N394T probably damaging Het
Fam135a A T 1: 24,060,998 (GRCm39) F1343I probably damaging Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Fbxo40 A T 16: 36,790,947 (GRCm39) H54Q probably damaging Het
Galnt9 A G 5: 110,744,111 (GRCm39) D315G probably benign Het
Gbp4 T A 5: 105,267,800 (GRCm39) D482V probably damaging Het
Gm17175 T A 14: 51,809,070 (GRCm39) I99F possibly damaging Het
Heatr4 A G 12: 84,027,104 (GRCm39) F51S probably benign Het
Herc1 T C 9: 66,415,442 (GRCm39) S4806P probably damaging Het
Hoxc11 G A 15: 102,863,177 (GRCm39) V73I possibly damaging Het
Knl1 T G 2: 118,900,513 (GRCm39) I738S probably damaging Het
Lcor T C 19: 41,573,888 (GRCm39) I881T possibly damaging Het
Lipt2 T C 7: 99,809,450 (GRCm39) F179S probably damaging Het
Lrrc8b G A 5: 105,628,622 (GRCm39) V323M probably damaging Het
Ltbp1 T C 17: 75,599,852 (GRCm39) S665P probably benign Het
Miga1 A T 3: 152,028,045 (GRCm39) D161E probably benign Het
Mynn A G 3: 30,657,933 (GRCm39) T84A probably benign Het
Or13c7d T C 4: 43,770,598 (GRCm39) S138G possibly damaging Het
Or3a1b T C 11: 74,012,492 (GRCm39) F126L probably benign Het
Or4a75 A T 2: 89,448,331 (GRCm39) D68E probably damaging Het
Pik3r3 C T 4: 116,079,572 (GRCm39) S23L probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ralgapa1 A G 12: 55,705,847 (GRCm39) S1892P probably damaging Het
Slc6a18 T A 13: 73,813,693 (GRCm39) Q540L probably benign Het
Tfap2a A T 13: 40,872,706 (GRCm39) N323K possibly damaging Het
Tgm1 A T 14: 55,943,100 (GRCm39) M580K probably benign Het
Tnrc6b G A 15: 80,813,619 (GRCm39) G1792D unknown Het
Trim66 T A 7: 109,074,599 (GRCm39) Q554L possibly damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Vmn1r238 G T 18: 3,123,365 (GRCm39) C16* probably null Het
Vmn1r6 G A 6: 56,979,495 (GRCm39) M52I probably benign Het
Zfp61 A G 7: 23,991,459 (GRCm39) F231L 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
R4197:Ccno UTSW 13 113,125,603 (GRCm39) missense probably damaging 0.99
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
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'- CGATTGTAACATGGTTACCCCTTG -3'
(R):5'- ATGACTAGGGCTGTGCGAAG -3'

Sequencing Primer
(F):5'- AACATGGTTACCCCTTGCCCTG -3'
(R):5'- AGAGCGAGCTAGCCTGG -3'
Posted On 2020-10-20