Incidental Mutation 'R5543:Ccne2'
ID 436083
Institutional Source Beutler Lab
Gene Symbol Ccne2
Ensembl Gene ENSMUSG00000028212
Gene Name cyclin E2
Synonyms
MMRRC Submission 043101-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5543 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 11191351-11204779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11194026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 89 (N89I)
Ref Sequence ENSEMBL: ENSMUSP00000130693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029866] [ENSMUST00000108324] [ENSMUST00000170901]
AlphaFold Q9Z238
Predicted Effect probably benign
Transcript: ENSMUST00000029866
AA Change: N88I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000029866
Gene: ENSMUSG00000028212
AA Change: N88I

DomainStartEndE-ValueType
CYCLIN 146 231 2.16e-24 SMART
Cyclin_C 240 362 5.49e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108324
AA Change: N89I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103960
Gene: ENSMUSG00000028212
AA Change: N89I

DomainStartEndE-ValueType
CYCLIN 147 232 2.16e-24 SMART
Cyclin_C 241 363 5.49e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149075
Predicted Effect probably benign
Transcript: ENSMUST00000170901
AA Change: N89I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130693
Gene: ENSMUSG00000028212
AA Change: N89I

DomainStartEndE-ValueType
CYCLIN 147 232 2.16e-24 SMART
Cyclin_C 241 363 5.49e-14 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for disruptions in this gene are phenotypically normal. Male mice show reduced fertility but are otherwise normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik C A 7: 127,836,353 (GRCm39) S80I probably benign Het
Aak1 T C 6: 86,959,627 (GRCm39) probably null Het
Abcc6 A G 7: 45,638,960 (GRCm39) probably null Het
Acvr1 A G 2: 58,353,157 (GRCm39) S268P probably damaging Het
Apod T C 16: 31,122,351 (GRCm39) probably null Het
Atp5po T C 16: 91,723,418 (GRCm39) I58V probably benign Het
AU040320 C T 4: 126,735,017 (GRCm39) T777M probably damaging Het
Cspg4b C A 13: 113,457,407 (GRCm39) T1151K probably damaging Het
Dnah7a A G 1: 53,543,228 (GRCm39) V2314A probably damaging Het
Dop1b T C 16: 93,595,808 (GRCm39) S1881P probably damaging Het
E4f1 A G 17: 24,666,336 (GRCm39) V24A possibly damaging Het
Esrrg A T 1: 187,882,451 (GRCm39) D236V probably damaging Het
Fam240b T A 13: 64,633,736 (GRCm39) I27F possibly damaging Het
Fat1 T A 8: 45,476,516 (GRCm39) I1854N probably damaging Het
Fchsd2 T C 7: 100,920,906 (GRCm39) Y480H probably damaging Het
Fras1 A G 5: 96,676,394 (GRCm39) N47S probably benign Het
Gabrr3 T C 16: 59,253,870 (GRCm39) S196P probably damaging Het
Gbp8 T A 5: 105,165,696 (GRCm39) D319V possibly damaging Het
Hrh3 G T 2: 179,745,763 (GRCm39) A61E probably damaging Het
Idua T C 5: 108,818,095 (GRCm39) I89T probably benign Het
Ifitm3 T A 7: 140,589,730 (GRCm39) I108F unknown Het
Izumo4 T C 10: 80,538,668 (GRCm39) F40S probably damaging Het
Kifc2 A G 15: 76,551,242 (GRCm39) R679G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Ldha A T 7: 46,500,314 (GRCm39) I171F possibly damaging Het
Lrfn4 T C 19: 4,662,191 (GRCm39) S609G probably benign Het
Mmp15 T C 8: 96,094,729 (GRCm39) F201S possibly damaging Het
Myof C T 19: 37,969,778 (GRCm39) V295I probably benign Het
Or1n2 C T 2: 36,797,369 (GRCm39) T137I possibly damaging Het
Or2z2 T A 11: 58,345,993 (GRCm39) M261L probably damaging Het
Or5m12 G T 2: 85,734,672 (GRCm39) A242D probably damaging Het
Parp14 T C 16: 35,655,137 (GRCm39) D1778G probably benign Het
Pcnt A T 10: 76,247,886 (GRCm39) D969E probably benign Het
Pibf1 A T 14: 99,350,428 (GRCm39) N192I probably benign Het
Pitpnm3 A G 11: 71,947,023 (GRCm39) F792S probably damaging Het
Pkd2 T A 5: 104,637,199 (GRCm39) I604N probably damaging Het
Pla2g15 T C 8: 106,887,775 (GRCm39) Y188H probably damaging Het
Plxnc1 G T 10: 94,700,636 (GRCm39) D643E probably benign Het
Prrc2c G A 1: 162,501,080 (GRCm39) P1241L probably damaging Het
Ptprd T C 4: 75,977,990 (GRCm39) E173G probably damaging Het
Shank3 T C 15: 89,416,557 (GRCm39) V232A probably damaging Het
Shbg A G 11: 69,507,564 (GRCm39) I171T probably damaging Het
Slc22a14 A T 9: 119,002,674 (GRCm39) F404L probably benign Het
Slc37a3 C A 6: 39,331,960 (GRCm39) G158C probably damaging Het
Slfn9 C A 11: 82,873,207 (GRCm39) L565F probably damaging Het
Spmip10 G A 18: 56,727,760 (GRCm39) probably benign Het
Trank1 T A 9: 111,195,180 (GRCm39) M1068K probably damaging Het
Trbv15 A T 6: 41,118,187 (GRCm39) I15L probably benign Het
Ttn C T 2: 76,569,918 (GRCm39) V26992M probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b34 T A 5: 87,054,560 (GRCm39) I74F probably damaging Het
Vamp3 A G 4: 151,135,477 (GRCm39) L47P probably damaging Het
Zfp143 T A 7: 109,682,522 (GRCm39) C363* probably null Het
Zfp438 T C 18: 5,213,761 (GRCm39) E399G probably damaging Het
Other mutations in Ccne2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Ccne2 APN 4 11,199,322 (GRCm39) missense probably benign 0.01
IGL02207:Ccne2 APN 4 11,202,261 (GRCm39) missense probably benign 0.00
IGL02885:Ccne2 APN 4 11,198,723 (GRCm39) splice site probably benign
R0367:Ccne2 UTSW 4 11,201,426 (GRCm39) splice site probably benign
R0686:Ccne2 UTSW 4 11,197,220 (GRCm39) missense possibly damaging 0.93
R1056:Ccne2 UTSW 4 11,192,707 (GRCm39) missense probably damaging 0.99
R1068:Ccne2 UTSW 4 11,192,850 (GRCm39) missense probably benign
R2076:Ccne2 UTSW 4 11,197,177 (GRCm39) missense probably damaging 1.00
R2167:Ccne2 UTSW 4 11,197,249 (GRCm39) missense probably benign 0.00
R2190:Ccne2 UTSW 4 11,197,241 (GRCm39) missense probably benign 0.02
R3724:Ccne2 UTSW 4 11,203,039 (GRCm39) missense probably benign 0.09
R3766:Ccne2 UTSW 4 11,199,293 (GRCm39) splice site probably benign
R4595:Ccne2 UTSW 4 11,202,986 (GRCm39) missense probably benign
R5469:Ccne2 UTSW 4 11,201,353 (GRCm39) nonsense probably null
R5884:Ccne2 UTSW 4 11,199,411 (GRCm39) missense probably benign 0.00
R6298:Ccne2 UTSW 4 11,199,306 (GRCm39) missense probably damaging 1.00
R7493:Ccne2 UTSW 4 11,198,772 (GRCm39) missense probably damaging 1.00
R7553:Ccne2 UTSW 4 11,201,348 (GRCm39) missense probably benign 0.02
R7591:Ccne2 UTSW 4 11,201,393 (GRCm39) missense probably benign
R7801:Ccne2 UTSW 4 11,194,079 (GRCm39) critical splice donor site probably null
R7996:Ccne2 UTSW 4 11,201,347 (GRCm39) missense probably benign 0.01
R8799:Ccne2 UTSW 4 11,201,355 (GRCm39) missense probably benign 0.00
R8812:Ccne2 UTSW 4 11,202,279 (GRCm39) missense probably benign
R9301:Ccne2 UTSW 4 11,192,881 (GRCm39) missense probably benign 0.10
R9345:Ccne2 UTSW 4 11,199,420 (GRCm39) missense probably benign 0.03
R9566:Ccne2 UTSW 4 11,193,026 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CCAGGCTTCGTTATCTAACTTAAGAAG -3'
(R):5'- AGTAGTTCAGTTCTGCTATGTCTAG -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- AGAAAATACCTGGCATTGC -3'
Posted On 2016-10-24