Incidental Mutation 'R8829:Ccno'
ID 673714
Institutional Source Beutler Lab
Gene Symbol Ccno
Ensembl Gene ENSMUSG00000042417
Gene Name cyclin O
Synonyms Ung2, Ccnu
MMRRC Submission 068731-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R8829 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 113124363-113127313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113126239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 236 (N236S)
Ref Sequence ENSEMBL: ENSMUSP00000040083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038404] [ENSMUST00000092089]
AlphaFold P0C242
Predicted Effect probably benign
Transcript: ENSMUST00000038404
AA Change: N236S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040083
Gene: ENSMUSG00000042417
AA Change: N236S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A T 3: 59,939,240 (GRCm39) I5F probably benign Het
Abca13 A T 11: 9,571,881 (GRCm39) D4814V probably damaging Het
Adgrl1 A G 8: 84,665,458 (GRCm39) N1382D Het
Adh6b T C 3: 138,055,463 (GRCm39) V71A probably benign Het
Aox4 A T 1: 58,294,649 (GRCm39) M953L probably benign Het
B3galt9 T A 2: 34,728,634 (GRCm39) N144K probably benign Het
Bach2 A T 4: 32,562,028 (GRCm39) E165V probably damaging Het
Bltp2 A G 11: 78,158,064 (GRCm39) K409E probably benign Het
Catsperg2 A G 7: 29,397,269 (GRCm39) V1078A probably benign Het
Ccpg1 A T 9: 72,917,633 (GRCm39) D255V probably benign Het
Cdhr2 A T 13: 54,865,930 (GRCm39) Y278F probably damaging Het
Cdk17 C T 10: 93,042,920 (GRCm39) probably benign Het
Celsr3 A G 9: 108,717,582 (GRCm39) D2216G probably benign Het
Cenpu T C 8: 47,026,496 (GRCm39) L294P probably damaging Het
Chct1 A G 11: 85,062,037 (GRCm39) D12G probably damaging Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Ctnna2 G A 6: 77,582,205 (GRCm39) R352* probably null Het
D630003M21Rik C A 2: 158,058,856 (GRCm39) C348F probably damaging Het
Dcdc2a C T 13: 25,294,051 (GRCm39) Q236* probably null Het
Ddx60 T G 8: 62,393,695 (GRCm39) S44A probably damaging Het
Dennd2c T A 3: 103,059,720 (GRCm39) probably null Het
Drd5 G A 5: 38,477,078 (GRCm39) V24M probably benign Het
Dthd1 T C 5: 62,971,608 (GRCm39) S144P probably benign Het
Fcna C A 2: 25,516,145 (GRCm39) R124L possibly damaging Het
Frem1 T C 4: 82,918,431 (GRCm39) R504G probably damaging Het
Gldc C G 19: 30,078,212 (GRCm39) M928I probably benign Het
Gprc6a A C 10: 51,491,295 (GRCm39) I818R probably damaging Het
Hcfc2 T C 10: 82,574,179 (GRCm39) Y118H probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Htr1d A T 4: 136,170,554 (GRCm39) H261L probably benign Het
Hycc2 A T 1: 58,587,832 (GRCm39) I127N possibly damaging Het
Igf1r T A 7: 67,875,769 (GRCm39) F1244I probably damaging Het
Ighv1-63 A G 12: 115,459,534 (GRCm39) V21A probably benign Het
Kit A G 5: 75,799,791 (GRCm39) N508D probably benign Het
Klk1b22 A T 7: 43,764,277 (GRCm39) E68D probably benign Het
Knstrn C T 2: 118,654,222 (GRCm39) Q211* probably null Het
Krtap2-4 A T 11: 99,505,246 (GRCm39) C122S unknown Het
Map3k1 T G 13: 111,889,015 (GRCm39) H1314P possibly damaging Het
Mgat4c A T 10: 102,214,084 (GRCm39) K22N probably damaging Het
Mpo T A 11: 87,694,250 (GRCm39) F660Y probably damaging Het
Myb A T 10: 21,021,130 (GRCm39) L433H probably damaging Het
Myo1c G A 11: 75,561,072 (GRCm39) V793I probably benign Het
Nckap1l T A 15: 103,387,242 (GRCm39) S706T probably benign Het
Ncoa3 A G 2: 165,892,068 (GRCm39) Y148C probably damaging Het
Nktr T A 9: 121,583,330 (GRCm39) S1432T unknown Het
Odf2l C T 3: 144,833,820 (GRCm39) S160L probably benign Het
Or10j7 C T 1: 173,011,458 (GRCm39) R181H probably benign Het
Or56b34 T C 7: 104,937,435 (GRCm39) L45P possibly damaging Het
Or6x1 T A 9: 40,099,209 (GRCm39) F266Y probably benign Het
Or8d23 G T 9: 38,842,190 (GRCm39) C241F probably damaging Het
Pclo T C 5: 14,838,464 (GRCm39) W1424R Het
Pcx A G 19: 4,651,968 (GRCm39) D72G probably damaging Het
Pebp4 A G 14: 70,285,916 (GRCm39) D193G probably benign Het
Pi4kb C T 3: 94,900,344 (GRCm39) T326M probably damaging Het
Piezo1 A C 8: 123,217,753 (GRCm39) M1265R Het
Pip4k2c A T 10: 127,037,037 (GRCm39) H177Q probably damaging Het
Pramel48 G T 5: 95,630,939 (GRCm39) C272F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptger3 A G 3: 157,273,423 (GRCm39) T257A probably damaging Het
Relt T A 7: 100,499,479 (GRCm39) S147C probably damaging Het
Scap A G 9: 110,209,271 (GRCm39) Y648C probably damaging Het
Scn9a T A 2: 66,313,961 (GRCm39) D1919V probably benign Het
Septin8 G A 11: 53,422,865 (GRCm39) V25I probably damaging Het
Serpinb2 A G 1: 107,443,257 (GRCm39) I19V probably benign Het
Slc16a6 A G 11: 109,345,932 (GRCm39) Y444H probably benign Het
Syne1 T C 10: 5,058,685 (GRCm39) E7276G probably benign Het
Syt1 C A 10: 108,478,193 (GRCm39) C77F probably benign Het
Tcf20 T A 15: 82,739,915 (GRCm39) K512M probably damaging Het
Tomm7 T C 5: 24,049,047 (GRCm39) K9E possibly damaging Het
Trank1 T C 9: 111,176,591 (GRCm39) S288P probably benign Het
Trem3 T C 17: 48,556,865 (GRCm39) V112A probably benign Het
Ttbk1 C A 17: 46,757,821 (GRCm39) G938W probably damaging Het
Vmn1r178 G A 7: 23,593,264 (GRCm39) C104Y probably damaging Het
Zpr1 T A 9: 46,192,344 (GRCm39) Y418* probably null 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
R8423:Ccno UTSW 13 113,124,678 (GRCm39) missense possibly damaging 0.52
R8832:Ccno UTSW 13 113,126,239 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGGATTTGGGTCCCAGGTACC -3'
(R):5'- CAGACAGTCTTGCAGTGTGG -3'

Sequencing Primer
(F):5'- GGTACCCACCAGTCCGGAAC -3'
(R):5'- TGCAGCAATCCGTCAGC -3'
Posted On 2021-07-15