Incidental Mutation 'R3931:Ccnd2'
ID 308467
Institutional Source Beutler Lab
Gene Symbol Ccnd2
Ensembl Gene ENSMUSG00000000184
Gene Name cyclin D2
Synonyms 2600016F06Rik, Vin1, Vin-1, cD2
MMRRC Submission 040918-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3931 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 127102125-127129156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127107422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 249 (I249T)
Ref Sequence ENSEMBL: ENSMUSP00000000188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000188]
AlphaFold P30280
Predicted Effect probably damaging
Transcript: ENSMUST00000000188
AA Change: I249T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000188
Gene: ENSMUSG00000000184
AA Change: I249T

DomainStartEndE-ValueType
CYCLIN 60 144 3.8e-20 SMART
Cyclin_C 153 275 1.19e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201564
Meta Mutation Damage Score 0.7802 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (30/30)
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 CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygotes for a targeted null mutation are sterile: females lack a granulosa cell response to follicle stimulating hormone, while males have hypoplastic testes. Mutants also show decreased cerebellar granule cell and stellate neuron populations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik A C 6: 92,811,420 (GRCm39) probably benign Het
Cbarp A G 10: 79,971,348 (GRCm39) L159P probably damaging Het
Cerk G T 15: 86,039,311 (GRCm39) C193* probably null Het
Chrna2 A G 14: 66,387,216 (GRCm39) E454G probably benign Het
Clnk T C 5: 38,925,412 (GRCm39) T130A probably benign Het
Dcbld2 T C 16: 58,285,701 (GRCm39) L620P probably damaging Het
Dhx29 T A 13: 113,095,499 (GRCm39) V942E probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnai1 G A 4: 41,604,229 (GRCm39) C212Y probably damaging Het
Dpep1 A G 8: 123,925,518 (GRCm39) D57G possibly damaging Het
Gfm2 G A 13: 97,311,532 (GRCm39) V701I probably benign Het
Grm1 C T 10: 10,595,622 (GRCm39) A669T probably benign Het
Hsd3b3 C T 3: 98,649,492 (GRCm39) G277D probably damaging Het
Hsf5 A G 11: 87,522,508 (GRCm39) Y367C probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lipo4 C T 19: 33,480,619 (GRCm39) V250I probably benign Het
Lrrc14 T C 15: 76,597,765 (GRCm39) V165A probably benign Het
Map3k9 A G 12: 81,819,691 (GRCm39) F188L probably damaging Het
Mpo A G 11: 87,691,866 (GRCm39) Y433C probably damaging Het
Nsd2 A G 5: 34,003,461 (GRCm39) K185E probably benign Het
Or6n2 T A 1: 173,897,147 (GRCm39) F94L probably damaging Het
Oxct1 T A 15: 4,066,601 (GRCm39) N72K possibly damaging Het
Ptpn12 A G 5: 21,206,321 (GRCm39) I324T probably benign Het
Sez6 T C 11: 77,867,708 (GRCm39) I875T probably damaging Het
Tpr T A 1: 150,311,655 (GRCm39) V1811E probably damaging Het
Trpc4 A G 3: 54,225,516 (GRCm39) D871G probably damaging Het
Upf2 A G 2: 6,051,821 (GRCm39) E1161G unknown Het
Zp2 T C 7: 119,731,580 (GRCm39) probably benign Het
Other mutations in Ccnd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02655:Ccnd2 APN 6 127,125,733 (GRCm39) missense probably damaging 1.00
IGL03030:Ccnd2 APN 6 127,125,841 (GRCm39) missense probably damaging 1.00
mirage UTSW 6 127,123,015 (GRCm39) missense probably benign 0.28
Phantasm UTSW 6 127,127,549 (GRCm39) missense probably damaging 1.00
R0097:Ccnd2 UTSW 6 127,123,015 (GRCm39) missense probably benign 0.28
R0097:Ccnd2 UTSW 6 127,123,015 (GRCm39) missense probably benign 0.28
R1231:Ccnd2 UTSW 6 127,107,363 (GRCm39) missense probably benign 0.00
R1556:Ccnd2 UTSW 6 127,107,363 (GRCm39) missense probably benign 0.00
R4785:Ccnd2 UTSW 6 127,125,761 (GRCm39) missense possibly damaging 0.67
R5425:Ccnd2 UTSW 6 127,127,580 (GRCm39) missense probably benign 0.00
R7295:Ccnd2 UTSW 6 127,125,725 (GRCm39) missense possibly damaging 0.81
R8232:Ccnd2 UTSW 6 127,127,549 (GRCm39) missense probably damaging 1.00
R8235:Ccnd2 UTSW 6 127,107,305 (GRCm39) missense probably benign 0.00
R9155:Ccnd2 UTSW 6 127,127,663 (GRCm39) missense probably damaging 0.97
R9439:Ccnd2 UTSW 6 127,127,617 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTAGCAGATGACGAACACG -3'
(R):5'- CTAGTTCCCAGATGGTGCTG -3'

Sequencing Primer
(F):5'- ATGACGAACACGCCTCTCTCTTG -3'
(R):5'- CCCAGATGGTGCTGATGCTG -3'
Posted On 2015-04-17