Incidental Mutation 'R9155:Ccnd2'
ID 695300
Institutional Source Beutler Lab
Gene Symbol Ccnd2
Ensembl Gene ENSMUSG00000000184
Gene Name cyclin D2
Synonyms 2600016F06Rik, Vin1, Vin-1, cD2
MMRRC Submission 068941-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 127102125-127129156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 127127663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 25 (V25G)
Ref Sequence ENSEMBL: ENSMUSP00000000188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000188] [ENSMUST00000201066] [ENSMUST00000201637] [ENSMUST00000201902]
AlphaFold P30280
Predicted Effect probably damaging
Transcript: ENSMUST00000000188
AA Change: V25G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000188
Gene: ENSMUSG00000000184
AA Change: V25G

DomainStartEndE-ValueType
CYCLIN 60 144 3.8e-20 SMART
Cyclin_C 153 275 1.19e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201066
AA Change: V25G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144095
Gene: ENSMUSG00000000184
AA Change: V25G

DomainStartEndE-ValueType
CYCLIN 60 139 3.06e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201637
AA Change: V25G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144245
Gene: ENSMUSG00000000184
AA Change: V25G

DomainStartEndE-ValueType
CYCLIN 60 139 3.06e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201902
AA Change: V25G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144006
Gene: ENSMUSG00000000184
AA Change: V25G

DomainStartEndE-ValueType
CYCLIN 60 144 2.4e-22 SMART
Blast:CYCLIN 157 189 5e-7 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,691,811 (GRCm39) E34G probably damaging Het
Aldh1a3 A T 7: 66,058,867 (GRCm39) L157* probably null Het
Asic2 T A 11: 80,784,872 (GRCm39) T356S probably benign Het
Ate1 T C 7: 129,996,463 (GRCm39) D459G probably damaging Het
Cacna1g T A 11: 94,350,423 (GRCm39) Q474L Het
Calhm6 T C 10: 34,002,363 (GRCm39) E240G probably damaging Het
Carf C A 1: 60,189,842 (GRCm39) T689K possibly damaging Het
Carmil2 A G 8: 106,412,922 (GRCm39) D6G probably benign Het
Ccnk T A 12: 108,159,978 (GRCm39) F153L probably damaging Het
Cdh23 C T 10: 60,249,485 (GRCm39) G808E probably damaging Het
Clec11a C T 7: 43,954,317 (GRCm39) R212Q probably damaging Het
Cog4 T C 8: 111,608,384 (GRCm39) W749R probably damaging Het
Col6a3 T A 1: 90,738,301 (GRCm39) T1073S probably benign Het
Col6a4 T A 9: 105,952,209 (GRCm39) D563V probably benign Het
Coq5 A G 5: 115,433,839 (GRCm39) probably null Het
Crebbp A C 16: 3,914,346 (GRCm39) H1292Q probably damaging Het
Csmd3 C A 15: 47,449,051 (GRCm39) G2737W Het
Ddrgk1 T C 2: 130,500,227 (GRCm39) Y223C probably damaging Het
Dennd1c T C 17: 57,373,796 (GRCm39) Q589R probably benign Het
Dnah10 A G 5: 124,907,475 (GRCm39) D4336G probably damaging Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
E330034G19Rik A T 14: 24,346,938 (GRCm39) Q140L possibly damaging Het
Ergic3 A G 2: 155,850,780 (GRCm39) Y83C probably damaging Het
Fam171a2 A T 11: 102,329,497 (GRCm39) S421T probably benign Het
Fndc3a T A 14: 72,921,162 (GRCm39) H4L possibly damaging Het
Gid8 T A 2: 180,359,756 (GRCm39) Y213* probably null Het
Hephl1 G T 9: 15,000,375 (GRCm39) H292Q probably damaging Het
Hexb T C 13: 97,314,414 (GRCm39) Y443C probably damaging Het
Htr1f C T 16: 64,746,788 (GRCm39) R168H probably benign Het
Hus1 A G 11: 8,956,056 (GRCm39) I159T probably damaging Het
Inha A G 1: 75,486,133 (GRCm39) T143A probably benign Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Itgae G T 11: 73,016,089 (GRCm39) C766F possibly damaging Het
Kank4 T C 4: 98,666,563 (GRCm39) E628G probably benign Het
Kctd19 T C 8: 106,120,571 (GRCm39) H221R probably benign Het
Llgl1 A G 11: 60,597,934 (GRCm39) E351G probably benign Het
Lrba A G 3: 86,202,508 (GRCm39) Y253C probably damaging Het
Lrp2 T A 2: 69,291,713 (GRCm39) R3489* probably null Het
Lrriq1 T C 10: 103,050,640 (GRCm39) N704S probably benign Het
Mbtps1 T C 8: 120,235,693 (GRCm39) N995S probably benign Het
Mga T C 2: 119,757,013 (GRCm39) C1077R probably damaging Het
Muc21 G A 17: 35,932,131 (GRCm39) P685L unknown Het
Ndufv1 A T 19: 4,059,912 (GRCm39) C142S probably damaging Het
Nkx3-1 T C 14: 69,429,660 (GRCm39) L226P probably damaging Het
Nsd1 C T 13: 55,361,253 (GRCm39) R74W probably damaging Het
Or12k8 A C 2: 36,975,016 (GRCm39) M248R probably benign Het
Or1d2 A G 11: 74,255,791 (GRCm39) T99A probably benign Het
Or2n1d A T 17: 38,646,224 (GRCm39) M59L probably damaging Het
Or5b99 G A 19: 12,976,428 (GRCm39) C26Y probably benign Het
Or7g35 A T 9: 19,496,379 (GRCm39) D182V probably benign Het
Phc3 A G 3: 30,968,691 (GRCm39) V812A probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Ppp4c A T 7: 126,386,419 (GRCm39) C193S possibly damaging Het
Rbbp5 C A 1: 132,422,023 (GRCm39) P308T probably damaging Het
Rhot1 A G 11: 80,148,380 (GRCm39) T607A probably null Het
Secisbp2l G A 2: 125,617,623 (GRCm39) P18L probably damaging Het
Slc27a4 G A 2: 29,701,294 (GRCm39) G362S probably damaging Het
Slc4a8 T C 15: 100,672,571 (GRCm39) Y36H probably damaging Het
Sox17 T C 1: 4,562,447 (GRCm39) Y251C probably damaging Het
Spata31h1 A T 10: 82,120,203 (GRCm39) I4269N probably damaging Het
Taf4b T C 18: 14,946,296 (GRCm39) V373A probably benign Het
Tecpr2 T A 12: 110,881,184 (GRCm39) V107E probably damaging Het
Them7 A G 2: 105,209,124 (GRCm39) Y148C probably damaging Het
Tktl2 T A 8: 66,965,858 (GRCm39) M472K possibly damaging Het
Ttn C T 2: 76,625,937 (GRCm39) V15041I probably damaging Het
Ubr1 A G 2: 120,754,615 (GRCm39) V751A possibly damaging Het
Vmn1r213 A T 13: 23,196,343 (GRCm39) R309* probably null Het
Vmn2r10 A T 5: 109,144,212 (GRCm39) D579E probably benign Het
Vmn2r118 T C 17: 55,917,207 (GRCm39) Q435R probably null Het
Vmn2r50 A T 7: 9,781,571 (GRCm39) H391Q probably damaging Het
Zbtb44 A T 9: 30,965,309 (GRCm39) I240F 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
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
R9439:Ccnd2 UTSW 6 127,127,617 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGGACAGAATTAGCGTCTCG -3'
(R):5'- TCCCATTCAGCCAAAGGAAGG -3'

Sequencing Primer
(F):5'- CCGCAGTTTTTAGGATCTCTGCG -3'
(R):5'- GGAGGTAAGGGAAGCACTCC -3'
Posted On 2022-01-20