Incidental Mutation 'R1494:Ccnd3'
ID 163847
Institutional Source Beutler Lab
Gene Symbol Ccnd3
Ensembl Gene ENSMUSG00000034165
Gene Name cyclin D3
Synonyms 9230106B05Rik
MMRRC Submission 039545-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1494 (G1)
Quality Score 143
Status Validated
Chromosome 17
Chromosomal Location 47815976-47910614 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 47909033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024783] [ENSMUST00000037333] [ENSMUST00000171031] [ENSMUST00000182129] [ENSMUST00000182209] [ENSMUST00000182848] [ENSMUST00000183177] [ENSMUST00000182506] [ENSMUST00000183044] [ENSMUST00000182539] [ENSMUST00000183256] [ENSMUST00000183206] [ENSMUST00000183210] [ENSMUST00000182874] [ENSMUST00000182935] [ENSMUST00000183158]
AlphaFold P30282
Predicted Effect probably benign
Transcript: ENSMUST00000024783
SMART Domains Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 52 69 N/A INTRINSIC
Pfam:Bystin 140 430 1.1e-144 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000037333
AA Change: E227G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040488
Gene: ENSMUSG00000034165
AA Change: E227G

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171031
AA Change: E227G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126141
Gene: ENSMUSG00000034165
AA Change: E227G

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
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 possibly damaging
Transcript: ENSMUST00000182209
AA Change: E227G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138091
Gene: ENSMUSG00000034165
AA Change: E227G

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182281
Predicted Effect possibly damaging
Transcript: ENSMUST00000182848
AA Change: E227G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138715
Gene: ENSMUSG00000034165
AA Change: E227G

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Pfam:Cyclin_C 155 243 8.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183177
AA Change: E227G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138640
Gene: ENSMUSG00000034165
AA Change: E227G

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182506
AA Change: E227G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138180
Gene: ENSMUSG00000034165
AA Change: E227G

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 251 2.02e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000183044
AA Change: E227G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138220
Gene: ENSMUSG00000034165
AA Change: E227G

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182539
AA Change: E31G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138458
Gene: ENSMUSG00000034165
AA Change: E31G

DomainStartEndE-ValueType
Pfam:Cyclin_C 1 84 1.4e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183256
AA Change: E31G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138528
Gene: ENSMUSG00000034165
AA Change: E31G

DomainStartEndE-ValueType
Pfam:Cyclin_C 1 70 9.4e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000183206
Predicted Effect probably benign
Transcript: ENSMUST00000182846
Predicted Effect probably benign
Transcript: ENSMUST00000183210
Predicted Effect probably benign
Transcript: ENSMUST00000182874
SMART Domains Protein: ENSMUSP00000138711
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
PDB:3G33|D 1 69 3e-42 PDB
SCOP:d1g3nc1 22 67 9e-10 SMART
Blast:CYCLIN 26 66 9e-10 BLAST
PDB:2W9F|A 73 119 3e-9 PDB
Blast:CYCLIN 87 119 4e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000182935
Predicted Effect probably benign
Transcript: ENSMUST00000183158
SMART Domains Protein: ENSMUSP00000138169
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
CYCLIN 1 82 1.71e-13 SMART
Meta Mutation Damage Score 0.3444 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.3%
Validation Efficiency 97% (57/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,400,991 (GRCm39) E92G probably benign Het
Abca13 C T 11: 9,416,429 (GRCm39) Q4064* probably null Het
Abca14 G A 7: 119,815,524 (GRCm39) M257I probably benign Het
Acsm2 T A 7: 119,174,855 (GRCm39) C207S probably damaging Het
Actr3 A G 1: 125,344,018 (GRCm39) I67T probably benign Het
Adcy7 T C 8: 89,046,835 (GRCm39) V606A probably benign Het
Ahnak2 G A 12: 112,751,570 (GRCm39) S54F probably damaging Het
Ano6 T C 15: 95,870,388 (GRCm39) S848P probably damaging Het
Atg3 C T 16: 44,992,123 (GRCm39) probably benign Het
Atp8b1 T A 18: 64,697,597 (GRCm39) S416C probably damaging Het
C2cd5 A G 6: 142,987,072 (GRCm39) probably benign Het
Capn11 A T 17: 45,954,735 (GRCm39) V134E probably damaging Het
Chaf1b T A 16: 93,684,998 (GRCm39) V149E probably damaging Het
Col5a2 T A 1: 45,542,074 (GRCm39) M1L unknown Het
Copa T C 1: 171,931,694 (GRCm39) I315T probably benign Het
Cyp3a57 A G 5: 145,318,077 (GRCm39) M353V probably damaging Het
Dcaf6 T C 1: 165,160,942 (GRCm39) M828V probably damaging Het
Dock2 T A 11: 34,232,761 (GRCm39) K1080* probably null Het
Dock6 A G 9: 21,726,038 (GRCm39) V1424A probably benign Het
Foxa1 T C 12: 57,588,984 (GRCm39) D412G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Galnt9 T A 5: 110,736,196 (GRCm39) S171T probably damaging Het
Glt6d1 A G 2: 25,684,260 (GRCm39) Y249H probably damaging Het
Gm37240 A T 3: 84,434,998 (GRCm39) Y104N probably damaging Het
Gpx8 C T 13: 113,182,149 (GRCm39) E95K possibly damaging Het
Grm1 T C 10: 10,565,450 (GRCm39) T953A probably benign Het
Helz T C 11: 107,494,889 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,647 (GRCm39) Y108C probably damaging Het
Kcnj13 A T 1: 87,316,939 (GRCm39) L58Q probably damaging Het
Mfsd14b A T 13: 65,243,485 (GRCm39) V53D probably damaging Het
Mrps7 G C 11: 115,494,952 (GRCm39) probably benign Het
Mug1 G A 6: 121,856,259 (GRCm39) G1013D probably damaging Het
Or52h7 T A 7: 104,214,038 (GRCm39) Y203* probably null Het
Or6c8 A T 10: 128,915,484 (GRCm39) M116K probably damaging Het
Pax6 T C 2: 105,521,955 (GRCm39) I19T probably benign Het
Pde8b G A 13: 95,184,304 (GRCm39) R416C probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Pygl G A 12: 70,246,504 (GRCm39) R348W probably damaging Het
Ralgapa1 T A 12: 55,731,309 (GRCm39) D1874V probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sncaip T C 18: 53,001,958 (GRCm39) S160P probably damaging Het
Sptbn4 A G 7: 27,133,719 (GRCm39) V79A probably damaging Het
Sptlc3 A T 2: 139,431,480 (GRCm39) Y334F possibly damaging Het
Supt16 A G 14: 52,409,916 (GRCm39) Y764H probably benign Het
Syne3 A T 12: 104,921,841 (GRCm39) V438E possibly damaging Het
Tagap1 T C 17: 7,224,210 (GRCm39) D162G probably damaging Het
Terb1 T C 8: 105,225,122 (GRCm39) probably benign Het
Themis3 C A 17: 66,866,949 (GRCm39) R97L probably benign Het
Tnk1 T A 11: 69,747,372 (GRCm39) E86D possibly damaging Het
Tnpo3 A G 6: 29,557,043 (GRCm39) L53P probably damaging Het
Trpc6 G A 9: 8,658,305 (GRCm39) R725K probably benign Het
Ttll11 T G 2: 35,685,391 (GRCm39) T566P probably damaging Het
Unc5c A T 3: 141,533,310 (GRCm39) T779S possibly damaging Het
Zfp42 A G 8: 43,748,638 (GRCm39) C288R possibly damaging Het
Zfp763 G A 17: 33,240,477 (GRCm39) T52I probably damaging Het
Other mutations in Ccnd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Ccnd3 APN 17 47,905,770 (GRCm39) missense probably benign
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
R6381:Ccnd3 UTSW 17 47,816,149 (GRCm39) utr 5 prime probably benign
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'- AGTCAGATTGCCAACACTGTGAGC -3'
(R):5'- ACATGCCAAGTGTCCTTCACCC -3'

Sequencing Primer
(F):5'- AGGATCTACCTTGTCCCCTTGG -3'
(R):5'- TCCAGACTGGAGCCAGAG -3'
Posted On 2014-03-28