Incidental Mutation 'R6381:Ccnd3'
ID 515345
Institutional Source Beutler Lab
Gene Symbol Ccnd3
Ensembl Gene ENSMUSG00000034165
Gene Name cyclin D3
Synonyms 9230106B05Rik
MMRRC Submission 044530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6381 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 47815976-47910614 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 47816149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037333] [ENSMUST00000067103] [ENSMUST00000171031] [ENSMUST00000182129] [ENSMUST00000182506] [ENSMUST00000183210] [ENSMUST00000183177] [ENSMUST00000182848] [ENSMUST00000183044] [ENSMUST00000182935]
AlphaFold P30282
Predicted Effect probably benign
Transcript: ENSMUST00000037333
SMART Domains Protein: ENSMUSP00000040488
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067103
SMART Domains Protein: ENSMUSP00000063201
Gene: ENSMUSG00000023980

DomainStartEndE-ValueType
BTP 27 104 1.76e-32 SMART
Pfam:TAF8_C 143 191 8.1e-24 PFAM
low complexity region 236 250 N/A INTRINSIC
low complexity region 267 286 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171031
SMART Domains Protein: ENSMUSP00000126141
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182060
Predicted Effect probably benign
Transcript: ENSMUST00000182129
SMART Domains Protein: ENSMUSP00000138486
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Pfam:Cyclin_C 155 214 2.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182506
SMART Domains Protein: ENSMUSP00000138180
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 251 2.02e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182591
Predicted Effect unknown
Transcript: ENSMUST00000183210
AA Change: S2P
Predicted Effect probably benign
Transcript: ENSMUST00000183177
SMART Domains Protein: ENSMUSP00000138640
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183014
Predicted Effect probably benign
Transcript: ENSMUST00000182848
SMART Domains Protein: ENSMUSP00000138715
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Pfam:Cyclin_C 155 243 8.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183044
SMART Domains Protein: ENSMUSP00000138220
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182935
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 97% (56/58)
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 and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy 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. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe thymus hypoplasia, abnormal thymocyte development, and impaired expansion of immature T lymphocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,788 (GRCm39) M365L probably damaging Het
Aars2 A G 17: 45,829,471 (GRCm39) E786G probably benign Het
Adamts12 G T 15: 11,257,080 (GRCm39) V478F possibly damaging Het
Akr1c21 T A 13: 4,624,183 (GRCm39) D12E probably damaging Het
Aplf A T 6: 87,635,959 (GRCm39) M118K probably damaging Het
Apobec1 A G 6: 122,555,890 (GRCm39) L189P probably damaging Het
BC061237 A G 14: 44,741,713 (GRCm39) Q152R possibly damaging Het
Bche A G 3: 73,609,132 (GRCm39) I98T probably benign Het
Cc2d2a G T 5: 43,873,118 (GRCm39) R983L possibly damaging Het
Cd74 G T 18: 60,944,435 (GRCm39) C215F probably damaging Het
Cep97 C T 16: 55,742,534 (GRCm39) A138T probably damaging Het
Ces1e T A 8: 93,944,206 (GRCm39) N204I probably damaging Het
Dicer1 T C 12: 104,662,721 (GRCm39) D1620G probably benign Het
Dnah17 A G 11: 118,020,011 (GRCm39) V12A probably benign Het
Dstyk T A 1: 132,384,503 (GRCm39) probably null Het
Elapor1 T C 3: 108,389,130 (GRCm39) K222E possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Entr1 A G 2: 26,275,093 (GRCm39) probably null Het
Gm10570 G T 4: 130,202,021 (GRCm39) probably benign Het
Gm7145 C T 1: 117,913,669 (GRCm39) Q184* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gtse1 G A 15: 85,746,349 (GRCm39) R55H probably benign Het
Hdac4 G T 1: 91,912,247 (GRCm39) Q381K possibly damaging Het
Ifit3b T C 19: 34,589,871 (GRCm39) I349T probably benign Het
Inpp5a A T 7: 138,980,589 (GRCm39) D9V probably benign Het
Irs1 T C 1: 82,265,405 (GRCm39) N937S possibly damaging Het
Kcna4 T C 2: 107,125,317 (GRCm39) M17T probably benign Het
Lipa T A 19: 34,502,146 (GRCm39) M33L probably benign Het
Marchf6 G T 15: 31,467,838 (GRCm39) Q790K probably benign Het
Mccc1 G A 3: 36,030,876 (GRCm39) P397S probably benign Het
Mrgprb2 T C 7: 48,202,138 (GRCm39) I196V probably benign Het
Myh15 T A 16: 48,921,844 (GRCm39) S463R probably damaging Het
Nab2 T C 10: 127,500,220 (GRCm39) K291E probably damaging Het
Neto2 T C 8: 86,369,138 (GRCm39) T294A probably damaging Het
Nkx1-1 T C 5: 33,591,320 (GRCm39) M1V probably null Het
Or2h2 C T 17: 37,396,977 (GRCm39) V27I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Psmd2 A G 16: 20,474,023 (GRCm39) E242G probably benign Het
Rnase12 A C 14: 51,294,551 (GRCm39) Y43D probably damaging Het
Rpl18 T A 7: 45,369,016 (GRCm39) F58I probably damaging Het
Ryr1 T G 7: 28,774,682 (GRCm39) M2313L possibly damaging Het
Scn4a G T 11: 106,211,137 (GRCm39) Q1627K probably damaging Het
Scnn1g A G 7: 121,366,722 (GRCm39) S640G probably benign Het
Sdr9c7 T A 10: 127,739,542 (GRCm39) M219K probably benign Het
Soat1 A T 1: 156,263,373 (GRCm39) M392K probably damaging Het
Spata18 G T 5: 73,832,559 (GRCm39) K337N probably damaging Het
Supt16 A G 14: 52,417,003 (GRCm39) V325A probably benign Het
Syt2 A G 1: 134,674,588 (GRCm39) E342G probably damaging Het
Tars2 A T 3: 95,661,799 (GRCm39) L37* probably null Het
Tep1 T C 14: 51,082,888 (GRCm39) D1040G probably damaging Het
Tmc8 A T 11: 117,682,426 (GRCm39) S613C probably null Het
Top3a C T 11: 60,634,849 (GRCm39) C660Y probably damaging Het
Tpsg1 C T 17: 25,591,543 (GRCm39) R48C probably damaging Het
Vmn2r57 T C 7: 41,078,242 (GRCm39) N72S probably benign Het
Whrn G A 4: 63,390,921 (GRCm39) T269I probably benign Het
Zfp759 T A 13: 67,286,969 (GRCm39) Y173* probably null Het
Other mutations in Ccnd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Ccnd3 APN 17 47,905,770 (GRCm39) missense probably benign
R1494:Ccnd3 UTSW 17 47,909,033 (GRCm39) splice site probably null
R4812:Ccnd3 UTSW 17 47,908,505 (GRCm39) critical splice donor site probably null
R5589:Ccnd3 UTSW 17 47,909,544 (GRCm39) missense probably damaging 1.00
R6250:Ccnd3 UTSW 17 47,908,487 (GRCm39) nonsense probably null
R6854:Ccnd3 UTSW 17 47,889,645 (GRCm39) utr 5 prime probably benign
R7695:Ccnd3 UTSW 17 47,908,421 (GRCm39) missense probably damaging 1.00
R9007:Ccnd3 UTSW 17 47,905,332 (GRCm39) critical splice donor site probably null
X0050:Ccnd3 UTSW 17 47,904,605 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GATGACCTTTCTCGTGCCTG -3'
(R):5'- TTTGGGGCCAAAACTGAGGTG -3'

Sequencing Primer
(F):5'- TGTCAGAGACCAGACCCAGG -3'
(R):5'- GAACCCACCCACCTGCTATTTC -3'
Posted On 2018-05-04