Incidental Mutation 'IGL02655:Ccnd2'
ID 302306
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnd2
Ensembl Gene ENSMUSG00000000184
Gene Name cyclin D2
Synonyms 2600016F06Rik, Vin1, Vin-1, cD2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02655
Quality Score
Status
Chromosome 6
Chromosomal Location 127102125-127129156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127125733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 101 (G101D)
Ref Sequence ENSEMBL: ENSMUSP00000144245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000188] [ENSMUST00000201066] [ENSMUST00000201637] [ENSMUST00000201902]
AlphaFold P30280
Predicted Effect probably damaging
Transcript: ENSMUST00000000188
AA Change: G101D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000188
Gene: ENSMUSG00000000184
AA Change: G101D

DomainStartEndE-ValueType
CYCLIN 60 144 3.8e-20 SMART
Cyclin_C 153 275 1.19e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180811
Predicted Effect probably damaging
Transcript: ENSMUST00000201066
AA Change: G101D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144095
Gene: ENSMUSG00000000184
AA Change: G101D

DomainStartEndE-ValueType
CYCLIN 60 139 3.06e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201637
AA Change: G101D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144245
Gene: ENSMUSG00000000184
AA Change: G101D

DomainStartEndE-ValueType
CYCLIN 60 139 3.06e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201857
Predicted Effect probably damaging
Transcript: ENSMUST00000201902
AA Change: G101D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144006
Gene: ENSMUSG00000000184
AA Change: G101D

DomainStartEndE-ValueType
CYCLIN 60 144 2.4e-22 SMART
Blast:CYCLIN 157 189 5e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201985
Coding Region Coverage
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,270,498 (GRCm39) S68T possibly damaging Het
4930544G11Rik T G 6: 65,930,074 (GRCm39) V103G probably damaging Het
Adam7 A T 14: 68,754,060 (GRCm39) D346E probably damaging Het
Adamts1 A G 16: 85,599,505 (GRCm39) S32P probably benign Het
Adamtsl2 T C 2: 26,972,542 (GRCm39) probably benign Het
Adgrb2 C A 4: 129,885,972 (GRCm39) Y37* probably null Het
Apba3 A G 10: 81,108,788 (GRCm39) R547G probably benign Het
Cpm A G 10: 117,519,186 (GRCm39) T365A probably benign Het
Cpt2 A G 4: 107,764,624 (GRCm39) V380A probably damaging Het
Dnah7b A T 1: 46,155,461 (GRCm39) probably benign Het
Enpp1 A C 10: 24,553,872 (GRCm39) D105E probably damaging Het
Ermp1 C A 19: 29,623,610 (GRCm39) E127* probably null Het
Evi5 T C 5: 107,961,446 (GRCm39) K375R probably benign Het
Gm11564 A T 11: 99,705,982 (GRCm39) C149* probably null Het
Golgb1 A T 16: 36,738,442 (GRCm39) E2260D probably damaging Het
Gpc2 T C 5: 138,277,187 (GRCm39) D80G possibly damaging Het
Hsd11b2 A G 8: 106,248,960 (GRCm39) I151V probably benign Het
Knl1 T C 2: 118,901,473 (GRCm39) I1058T possibly damaging Het
Krtap4-8 A T 11: 99,671,454 (GRCm39) probably benign Het
Me1 A G 9: 86,536,780 (GRCm39) probably benign Het
Mki67 C T 7: 135,315,748 (GRCm39) R38H probably damaging Het
Nsmaf A G 4: 6,424,933 (GRCm39) F272L possibly damaging Het
Pcyox1 A T 6: 86,366,326 (GRCm39) V78E probably damaging Het
Pkp1 G T 1: 135,817,511 (GRCm39) T208N probably benign Het
Plagl2 T C 2: 153,074,337 (GRCm39) E188G probably damaging Het
Pramel15 A G 4: 144,099,416 (GRCm39) F450L probably benign Het
Relch G A 1: 105,605,971 (GRCm39) V204M probably damaging Het
Ric1 T A 19: 29,572,851 (GRCm39) S764T probably damaging Het
Sec24a G A 11: 51,625,482 (GRCm39) T247M probably benign Het
Slc25a17 C T 15: 81,207,844 (GRCm39) R248Q probably benign Het
Stk36 C T 1: 74,673,694 (GRCm39) P1068S probably damaging Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Tfec C T 6: 16,834,308 (GRCm39) A200T possibly damaging Het
Vmn2r4 A G 3: 64,305,886 (GRCm39) I512T probably damaging Het
Other mutations in Ccnd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3931:Ccnd2 UTSW 6 127,107,422 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16