Incidental Mutation 'R8235:Ccnd2'
ID 637299
Institutional Source Beutler Lab
Gene Symbol Ccnd2
Ensembl Gene ENSMUSG00000000184
Gene Name cyclin D2
Synonyms 2600016F06Rik, Vin1, Vin-1, cD2
MMRRC Submission 067667-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8235 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 127102125-127129156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127107305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 288 (D288G)
Ref Sequence ENSEMBL: ENSMUSP00000000188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000188]
AlphaFold P30280
Predicted Effect probably benign
Transcript: ENSMUST00000000188
AA Change: D288G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000188
Gene: ENSMUSG00000000184
AA Change: D288G

DomainStartEndE-ValueType
CYCLIN 60 144 3.8e-20 SMART
Cyclin_C 153 275 1.19e-18 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 98% (44/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,212,077 (GRCm39) Q279H probably damaging Het
Abhd13 G A 8: 10,037,394 (GRCm39) probably benign Het
Atp8b3 T C 10: 80,365,650 (GRCm39) N368S probably damaging Het
Bptf A G 11: 106,967,458 (GRCm39) M1089T probably benign Het
Cbll1 C T 12: 31,541,570 (GRCm39) D103N probably benign Het
Chek1 T A 9: 36,630,870 (GRCm39) R181S probably benign Het
Chrna7 T C 7: 62,861,972 (GRCm39) R27G probably damaging Het
Crybb1 A G 5: 112,405,266 (GRCm39) K6R probably damaging Het
Ehbp1 G A 11: 22,189,153 (GRCm39) T83M probably damaging Het
Entpd7 G A 19: 43,705,984 (GRCm39) E269K probably damaging Het
Eps8 A G 6: 137,460,576 (GRCm39) V729A possibly damaging Het
Farsa A G 8: 85,595,545 (GRCm39) H480R probably damaging Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Hpn T C 7: 30,802,208 (GRCm39) T228A possibly damaging Het
Lyst T A 13: 13,935,323 (GRCm39) H3597Q possibly damaging Het
Map3k4 A T 17: 12,458,968 (GRCm39) probably null Het
Msto1 A T 3: 88,820,228 (GRCm39) L89Q probably damaging Het
Mycbp2 T C 14: 103,436,110 (GRCm39) E2185G probably damaging Het
Myh2 A G 11: 67,083,824 (GRCm39) E1534G probably damaging Het
Nfkbia T C 12: 55,537,608 (GRCm39) Y195C probably damaging Het
Npr2 T A 4: 43,641,603 (GRCm39) M469K probably benign Het
Nwd1 TCATCC TCATCCATCC 8: 73,438,314 (GRCm39) probably null Het
Or8i2 T C 2: 86,852,226 (GRCm39) I221V probably benign Het
Potefam3e C A 8: 19,799,476 (GRCm39) T308N probably benign Het
Prdm2 G A 4: 142,859,037 (GRCm39) Q1418* probably null Het
Ptk2 T C 15: 73,215,140 (GRCm39) T13A probably benign Het
Ptprk T A 10: 28,465,037 (GRCm39) N1292K possibly damaging Het
Ptprq A C 10: 107,418,402 (GRCm39) V1658G probably damaging Het
Ptprq A T 10: 107,541,351 (GRCm39) F392I probably benign Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rsf1 T C 7: 97,325,461 (GRCm39) probably benign Het
Samd4b C T 7: 28,106,031 (GRCm39) V396I probably benign Het
Spta1 T A 1: 174,029,952 (GRCm39) L906Q probably damaging Het
Sytl1 T C 4: 132,988,257 (GRCm39) D33G probably damaging Het
Trmt10c T C 16: 55,854,939 (GRCm39) N232S probably benign Het
Trpc4 G A 3: 54,209,669 (GRCm39) C678Y probably benign Het
Tulp3 T C 6: 128,304,640 (GRCm39) N205D probably benign Het
Ufl1 T C 4: 25,278,656 (GRCm39) I100V probably benign Het
Unc45b A G 11: 82,810,681 (GRCm39) I314V probably benign Het
Vegfa A T 17: 46,342,236 (GRCm39) L194Q possibly damaging Het
Vps13c T C 9: 67,834,678 (GRCm39) F1669S probably damaging Het
Vps13c T A 9: 67,863,063 (GRCm39) H3026Q probably benign Het
Zfp184 T G 13: 22,144,053 (GRCm39) I586M probably damaging 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
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
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'- TGCGTTACAACTATACGGCC -3'
(R):5'- TGCATGTGCTAATAGCCCCG -3'

Sequencing Primer
(F):5'- GCGTTACAACTATACGGCCTTTTC -3'
(R):5'- ATGTGCTAATAGCCCCGGTCTG -3'
Posted On 2020-07-13