Incidental Mutation 'R5425:Ccnd2'
ID 426811
Institutional Source Beutler Lab
Gene Symbol Ccnd2
Ensembl Gene ENSMUSG00000000184
Gene Name cyclin D2
Synonyms 2600016F06Rik, Vin1, Vin-1, cD2
MMRRC Submission 042991-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5425 (G1)
Quality Score 224
Status Not validated
Chromosome 6
Chromosomal Location 127102125-127129156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127127580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 53 (Y53H)
Ref Sequence ENSEMBL: ENSMUSP00000000188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000188] [ENSMUST00000201066] [ENSMUST00000201637] [ENSMUST00000201902]
AlphaFold P30280
Predicted Effect probably benign
Transcript: ENSMUST00000000188
AA Change: Y53H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000000188
Gene: ENSMUSG00000000184
AA Change: Y53H

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 benign
Transcript: ENSMUST00000201066
AA Change: Y53H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000144095
Gene: ENSMUSG00000000184
AA Change: Y53H

DomainStartEndE-ValueType
CYCLIN 60 139 3.06e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201637
AA Change: Y53H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000144245
Gene: ENSMUSG00000000184
AA Change: Y53H

DomainStartEndE-ValueType
CYCLIN 60 139 3.06e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201857
Predicted Effect probably benign
Transcript: ENSMUST00000201902
AA Change: Y53H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144006
Gene: ENSMUSG00000000184
AA Change: Y53H

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,864,254 (GRCm39) E465G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Aida T A 1: 183,103,201 (GRCm39) C174S possibly damaging Het
Aldh1a2 G A 9: 71,160,286 (GRCm39) R104H probably benign Het
Aldh3a1 T C 11: 61,104,407 (GRCm39) L98P probably benign Het
Ankmy1 G T 1: 92,798,679 (GRCm39) Y20* probably null Het
Arhgap9 C A 10: 127,162,287 (GRCm39) N314K probably damaging Het
Atxn7l1 T C 12: 33,417,119 (GRCm39) Y427H probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Bola3 G T 6: 83,326,534 (GRCm39) G18W probably benign Het
Carmil3 A G 14: 55,731,334 (GRCm39) T138A probably benign Het
Castor1 T A 11: 4,171,689 (GRCm39) H304Q probably damaging Het
Cd101 T A 3: 100,926,002 (GRCm39) D239V probably damaging Het
Ces1g T A 8: 94,052,428 (GRCm39) Q287L probably benign Het
Cfap43 C T 19: 47,885,371 (GRCm39) A415T possibly damaging Het
Cfap74 A G 4: 155,540,149 (GRCm39) probably benign Het
Crnn A G 3: 93,056,456 (GRCm39) K414R probably benign Het
Csf1 A G 3: 107,656,212 (GRCm39) L273P possibly damaging Het
Dab2ip T G 2: 35,600,003 (GRCm39) H206Q probably benign Het
Dipk2a T C 9: 94,419,745 (GRCm39) S62G probably damaging Het
Diras2 A G 13: 52,662,083 (GRCm39) S75P probably damaging Het
Dst T C 1: 34,218,831 (GRCm39) V1757A probably benign Het
Dus4l A T 12: 31,690,807 (GRCm39) H281Q probably damaging Het
Faah A T 4: 115,857,993 (GRCm39) M436K probably null Het
Fat1 T C 8: 45,478,922 (GRCm39) V2656A possibly damaging Het
Ffar1 A C 7: 30,560,204 (GRCm39) L231R probably damaging Het
Gab1 T C 8: 81,527,018 (GRCm39) K27E probably damaging Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
H2-T5 A C 17: 36,479,377 (GRCm39) L8R probably damaging Het
Irx6 T C 8: 93,404,145 (GRCm39) probably null Het
Mcrs1 C A 15: 99,141,569 (GRCm39) R376L probably damaging Het
Mrgprb1 T A 7: 48,097,719 (GRCm39) L64F possibly damaging Het
Nck2 T G 1: 43,593,552 (GRCm39) V253G probably benign Het
Paip1 C T 13: 119,566,702 (GRCm39) T12M possibly damaging Het
Pdpk1 A T 17: 24,317,095 (GRCm39) L256Q probably damaging Het
Perm1 A G 4: 156,302,752 (GRCm39) D432G probably benign Het
Psg25 A T 7: 18,258,709 (GRCm39) Y322* probably null Het
Pzp G A 6: 128,466,011 (GRCm39) A1223V probably damaging Het
Rassf8 A T 6: 145,761,268 (GRCm39) Y198F probably benign Het
Repin1 A G 6: 48,573,365 (GRCm39) Q42R probably benign Het
Sirpb1b A C 3: 15,613,729 (GRCm39) C51G probably damaging Het
Snx13 C T 12: 35,150,643 (GRCm39) Q316* probably null Het
Spesp1 A G 9: 62,189,331 (GRCm39) V5A possibly damaging Het
Sprr2e G A 3: 92,260,370 (GRCm39) C67Y unknown Het
Tcaf3 G A 6: 42,573,697 (GRCm39) P172S probably damaging Het
Tmem126b A G 7: 90,120,155 (GRCm39) I72T probably benign Het
Tmem17 G T 11: 22,468,624 (GRCm39) V188L probably benign Het
Tnfrsf1b T C 4: 144,955,678 (GRCm39) probably null Het
Tshz2 A T 2: 169,725,944 (GRCm39) Q180L probably damaging Het
Ttc41 A T 10: 86,612,494 (GRCm39) I1256F probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Ywhag G T 5: 135,940,119 (GRCm39) H158Q 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
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
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'- AGGGACAGAATTAGCGTCTCG -3'
(R):5'- CCCATTCAGCCAAAGGAAGGAG -3'

Sequencing Primer
(F):5'- CGTCTCGCCCAAGGGTG -3'
(R):5'- GGAGGTAAGGGAAGCACTCC -3'
Posted On 2016-09-01