Incidental Mutation 'R2190:Ccne2'
ID 238010
Institutional Source Beutler Lab
Gene Symbol Ccne2
Ensembl Gene ENSMUSG00000028212
Gene Name cyclin E2
Synonyms
MMRRC Submission 040192-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2190 (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 11197241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 181 (N181I)
Ref Sequence ENSEMBL: ENSMUSP00000130693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029866] [ENSMUST00000044616] [ENSMUST00000108324] [ENSMUST00000170901]
AlphaFold Q9Z238
Predicted Effect probably benign
Transcript: ENSMUST00000029866
AA Change: N180I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000029866
Gene: ENSMUSG00000028212
AA Change: N180I

DomainStartEndE-ValueType
CYCLIN 146 231 2.16e-24 SMART
Cyclin_C 240 362 5.49e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044616
SMART Domains Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108324
AA Change: N181I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103960
Gene: ENSMUSG00000028212
AA Change: N181I

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 probably benign
Transcript: ENSMUST00000170901
AA Change: N181I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000130693
Gene: ENSMUSG00000028212
AA Change: N181I

DomainStartEndE-ValueType
CYCLIN 147 232 2.16e-24 SMART
Cyclin_C 241 363 5.49e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149075
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,766,785 (GRCm39) T56S probably damaging Het
Acbd6 A T 1: 155,500,652 (GRCm39) H204L probably damaging Het
Acnat2 T A 4: 49,383,551 (GRCm39) M1L probably benign Het
Adgrg5 A T 8: 95,660,579 (GRCm39) I73F probably damaging Het
Ankrd52 A G 10: 128,219,487 (GRCm39) T474A probably benign Het
Arid3a A G 10: 79,782,365 (GRCm39) D252G possibly damaging Het
Aspg G T 12: 112,091,322 (GRCm39) E501D probably damaging Het
Bicral A G 17: 47,136,049 (GRCm39) I387T probably damaging Het
Bub1 T C 2: 127,652,645 (GRCm39) N574S probably benign Het
Casr G A 16: 36,315,778 (GRCm39) T764M probably damaging Het
Ccdc60 A G 5: 116,295,639 (GRCm39) S259P probably damaging Het
Chd4 A G 6: 125,091,260 (GRCm39) D89G probably benign Het
Col25a1 C T 3: 130,378,364 (GRCm39) P606S probably damaging Het
Dcc A G 18: 71,680,491 (GRCm39) S582P possibly damaging Het
Dlg4 A G 11: 69,933,430 (GRCm39) D619G probably damaging Het
Elavl2 C T 4: 91,152,331 (GRCm39) V129I probably benign Het
Epha3 A G 16: 63,366,552 (GRCm39) I965T probably benign Het
Fbxw16 G A 9: 109,265,739 (GRCm39) S360L probably damaging Het
Fgf14 T C 14: 124,221,330 (GRCm39) Y158C probably damaging Het
Gm44511 A G 6: 128,803,163 (GRCm39) I16T possibly damaging Het
Has2 C A 15: 56,531,183 (GRCm39) V511F probably benign Het
Heatr5b G A 17: 79,109,185 (GRCm39) R1025C probably damaging Het
Hsd17b12 T C 2: 93,864,408 (GRCm39) Y233C probably benign Het
Il36rn A T 2: 24,170,831 (GRCm39) I43F probably damaging Het
Inpp5b T A 4: 124,678,988 (GRCm39) I465N probably damaging Het
Irak2 T A 6: 113,663,904 (GRCm39) N423K probably damaging Het
Itga2 C A 13: 115,007,141 (GRCm39) V396L probably benign Het
Itprid1 A G 6: 55,874,685 (GRCm39) T212A possibly damaging Het
Lipo2 A T 19: 33,725,969 (GRCm39) N94K probably damaging Het
Lrrc37a T C 11: 103,390,869 (GRCm39) T1519A possibly damaging Het
Macf1 A G 4: 123,353,005 (GRCm39) V1558A probably benign Het
Mocos C A 18: 24,797,114 (GRCm39) H91Q probably benign Het
Myh14 G A 7: 44,310,487 (GRCm39) T132I probably damaging Het
Nlrp2 A T 7: 5,322,237 (GRCm39) D803E possibly damaging Het
Ntsr2 T A 12: 16,704,018 (GRCm39) I173N probably damaging Het
Or14c43 A G 7: 86,115,573 (GRCm39) Y318C possibly damaging Het
Or5b105 T G 19: 13,079,857 (GRCm39) K270N probably damaging Het
Pitx3 T C 19: 46,125,486 (GRCm39) Y86C probably damaging Het
Pkp1 T C 1: 135,807,709 (GRCm39) S520G probably benign Het
Pygo1 C T 9: 72,852,529 (GRCm39) Q239* probably null Het
Rab13 A G 3: 90,130,851 (GRCm39) E68G probably damaging Het
Rfx7 A G 9: 72,525,201 (GRCm39) E797G probably benign Het
Slc5a1 T C 5: 33,261,937 (GRCm39) probably null Het
Slco1c1 A G 6: 141,508,893 (GRCm39) T518A probably benign Het
Spint1 A G 2: 119,068,661 (GRCm39) I132V probably benign Het
Stard9 T A 2: 120,544,601 (GRCm39) I4514N probably benign Het
Tenm3 T G 8: 48,848,579 (GRCm39) S87R probably damaging Het
Thap4 G T 1: 93,678,381 (GRCm39) P135Q probably damaging Het
Tmed9 A G 13: 55,741,156 (GRCm39) E57G probably benign Het
Tnrc18 C T 5: 142,761,644 (GRCm39) V594I unknown Het
Trmt1 A T 8: 85,416,470 (GRCm39) K64* probably null Het
Usf2 A G 7: 30,654,606 (GRCm39) V198A probably damaging Het
Usp14 A T 18: 10,007,835 (GRCm39) C168S probably damaging Het
Vav3 C A 3: 109,470,130 (GRCm39) T525K probably damaging Het
Vmn1r52 A G 6: 90,156,151 (GRCm39) I152V probably benign Het
Vmn2r81 A G 10: 79,104,085 (GRCm39) D236G possibly damaging Het
Wdr19 G A 5: 65,401,509 (GRCm39) V975I possibly 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
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
R5543:Ccne2 UTSW 4 11,194,026 (GRCm39) missense probably benign 0.04
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'- GCCTCAAAGTAGCTTGTAATTTGG -3'
(R):5'- AAGACCATTCTTGTGAACTCAGGTG -3'

Sequencing Primer
(F):5'- ACACTCTTCATAGGGAGAC -3'
(R):5'- ATGTAACAACACTGACCTATGATAAC -3'
Posted On 2014-10-02