Incidental Mutation 'R8142:Ccno'
ID 632601
Institutional Source Beutler Lab
Gene Symbol Ccno
Ensembl Gene ENSMUSG00000042417
Gene Name cyclin O
Synonyms Ung2, Ccnu
MMRRC Submission 067570-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R8142 (G1)
Quality Score 184.009
Status Not validated
Chromosome 13
Chromosomal Location 113124363-113127313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 113125489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 151 (L151R)
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: L151R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040083
Gene: ENSMUSG00000042417
AA Change: L151R

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: 99.7%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 91.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1e2 A T 17: 87,252,083 (GRCm39) I105N possibly damaging Het
Azi2 A G 9: 117,878,475 (GRCm39) D105G probably damaging Het
Bmpr2 T C 1: 59,909,465 (GRCm39) S980P probably damaging Het
Cdh2 A C 18: 16,734,791 (GRCm39) I801S probably benign Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Dab1 T A 4: 104,535,921 (GRCm39) V110D probably damaging Het
Dnah3 T C 7: 119,660,189 (GRCm39) T828A probably benign Het
Dnah5 G T 15: 28,384,519 (GRCm39) V3088L probably benign Het
Dtd2 T A 12: 52,046,593 (GRCm39) D82V probably damaging Het
Dusp5 T C 19: 53,525,912 (GRCm39) F185L probably damaging Het
Epha10 A G 4: 124,779,639 (GRCm39) T162A probably damaging Het
Fat4 A T 3: 38,945,352 (GRCm39) D1415V probably damaging Het
Fitm1 T C 14: 55,813,247 (GRCm39) Y37H possibly damaging Het
Flg2 G T 3: 93,122,782 (GRCm39) E1651* probably null Het
Ifit3 G T 19: 34,564,901 (GRCm39) C149F probably damaging Het
Lepr C A 4: 101,622,616 (GRCm39) H465Q possibly damaging Het
Ltn1 A C 16: 87,178,529 (GRCm39) S1567A probably benign Het
Marchf1 T C 8: 66,908,778 (GRCm39) V166A probably benign Het
Marveld2 T C 13: 100,737,448 (GRCm39) H424R possibly damaging Het
Mypop A G 7: 18,735,051 (GRCm39) T383A unknown Het
Ngef G C 1: 87,468,463 (GRCm39) R99G probably benign Het
Nherf4 A G 9: 44,162,078 (GRCm39) probably null Het
Npepps G T 11: 97,109,398 (GRCm39) A726D probably damaging Het
Or6c63-ps1 T A 10: 128,900,519 (GRCm39) D9V probably benign Het
Pcdhgb4 A G 18: 37,854,166 (GRCm39) D187G probably damaging Het
Per2 T C 1: 91,349,269 (GRCm39) E1034G possibly damaging Het
Pira1 A G 7: 3,739,842 (GRCm39) S418P possibly damaging Het
Pkhd1l1 G A 15: 44,378,327 (GRCm39) R1027H probably benign Het
Pon2 A T 6: 5,266,239 (GRCm39) V260D probably benign Het
Rnase13 A G 14: 52,159,893 (GRCm39) I82T probably damaging Het
Sbno1 A G 5: 124,546,608 (GRCm39) S194P probably benign Het
Serpinb6c T A 13: 34,064,096 (GRCm39) I320L probably benign Het
Sh3rf3 C T 10: 58,885,205 (GRCm39) R363* probably null Het
Slc11a1 T C 1: 74,424,418 (GRCm39) F500L probably benign Het
Slc1a4 A G 11: 20,257,890 (GRCm39) probably null Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Sorcs2 T C 5: 36,219,958 (GRCm39) N362S possibly damaging Het
Stau2 A G 1: 16,530,575 (GRCm39) S115P unknown Het
Stk38l A G 6: 146,660,070 (GRCm39) N34S probably benign Het
Tmem201 T C 4: 149,803,114 (GRCm39) T585A probably benign Het
Ttc6 A T 12: 57,744,258 (GRCm39) I1297F possibly damaging Het
Uncx A G 5: 139,532,655 (GRCm39) D240G possibly damaging Het
Vmn2r88 A G 14: 51,651,564 (GRCm39) I293V Het
Vps11 T C 9: 44,265,852 (GRCm39) T476A probably benign Het
Vrtn T C 12: 84,697,395 (GRCm39) L715P probably damaging Het
Wdr72 T G 9: 74,046,949 (GRCm39) V65G probably damaging Het
Zbtb21 T C 16: 97,752,675 (GRCm39) E536G probably damaging Het
Zbtb34 G T 2: 33,302,493 (GRCm39) S16* probably null Het
Zfhx2 G A 14: 55,310,895 (GRCm39) L600F possibly damaging 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
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'- CACTGTGCACAATACCAGGC -3'
(R):5'- CTAAGCCATGCACGAGTTGG -3'

Sequencing Primer
(F):5'- AAACGTTCCCAGGCGTTC -3'
(R):5'- CCATGCACGAGTTGGGGAAG -3'
Posted On 2020-06-30