Incidental Mutation 'R6380:Ccnd1'
ID 515271
Institutional Source Beutler Lab
Gene Symbol Ccnd1
Ensembl Gene ENSMUSG00000070348
Gene Name cyclin D1
Synonyms bcl-1, Cyl-1, CycD1, cD1, PRAD1
MMRRC Submission 044529-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R6380 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 144483668-144493568 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144493306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 42 (V42A)
Ref Sequence ENSEMBL: ENSMUSP00000091495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093962]
AlphaFold P25322
Predicted Effect probably benign
Transcript: ENSMUST00000093962
AA Change: V42A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000091495
Gene: ENSMUSG00000070348
AA Change: V42A

DomainStartEndE-ValueType
CYCLIN 62 146 1.2e-22 SMART
Cyclin_C 155 283 1.36e-18 SMART
CYCLIN 163 253 4.41e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208193
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.5%
Validation Efficiency 100% (51/51)
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 throughout 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 activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations may exhibit reduced body size and viability, impaired retinal development, pregnancy-insensitive mammary glands, and modified development of mammary cancer induced by neu and ras oncogenes, depending on the specific allele or genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik G A 6: 91,900,118 (GRCm39) G424D probably damaging Het
Aco1 T C 4: 40,185,028 (GRCm39) V566A probably benign Het
Adat1 G T 8: 112,704,704 (GRCm39) T414K probably benign Het
Alox12e A G 11: 70,211,927 (GRCm39) V194A probably benign Het
Anpep A G 7: 79,491,644 (GRCm39) V119A probably benign Het
Atat1 C A 17: 36,219,849 (GRCm39) probably null Het
Atp10a G A 7: 58,469,432 (GRCm39) W1094* probably null Het
Bcl11b T C 12: 107,969,360 (GRCm39) R15G probably benign Het
Bltp1 A G 3: 37,087,456 (GRCm39) D4019G probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
Cdyl2 T A 8: 117,309,923 (GRCm39) K344N probably damaging Het
Cep68 A G 11: 20,180,498 (GRCm39) M711T probably benign Het
Cyp2j7 A G 4: 96,118,211 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,935,357 (GRCm39) D86E probably damaging Het
Dclk1 G T 3: 55,154,615 (GRCm39) R15L probably damaging Het
Dpy19l1 T A 9: 24,393,341 (GRCm39) K143* probably null Het
Duox2 A G 2: 122,111,483 (GRCm39) V1405A probably benign Het
Filip1 T C 9: 79,726,906 (GRCm39) E571G probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Jph1 T C 1: 17,162,071 (GRCm39) N197S probably damaging Het
Kcnt2 T C 1: 140,437,322 (GRCm39) L535S probably damaging Het
Lepr C A 4: 101,622,151 (GRCm39) S361* probably null Het
Lfng T A 5: 140,600,151 (GRCm39) probably null Het
Lpcat2 G A 8: 93,613,209 (GRCm39) A250T probably benign Het
Mab21l4 G A 1: 93,088,613 (GRCm39) probably null Het
Map3k4 A T 17: 12,490,954 (GRCm39) M159K possibly damaging Het
Notch3 A T 17: 32,363,533 (GRCm39) C1177S probably damaging Het
Olfml2b C T 1: 170,496,800 (GRCm39) P477L probably benign Het
Or51a5 A T 7: 102,771,136 (GRCm39) F281Y probably benign Het
Or5k16 T A 16: 58,736,627 (GRCm39) I126L probably damaging Het
Or6c33 A T 10: 129,853,782 (GRCm39) H184L probably benign Het
Pald1 G T 10: 61,186,714 (GRCm39) F146L possibly damaging Het
Pcdhga1 A G 18: 37,796,022 (GRCm39) D342G probably damaging Het
Plcb2 T C 2: 118,545,949 (GRCm39) S579G probably damaging Het
Prdm16 A T 4: 154,425,824 (GRCm39) S654T probably benign Het
Rab3gap2 C A 1: 184,968,181 (GRCm39) L178I probably damaging Het
Rbfox1 C T 16: 7,042,214 (GRCm39) Q23* probably null Het
Slc14a2 T G 18: 78,190,190 (GRCm39) T920P probably benign Het
Slc17a6 G A 7: 51,317,211 (GRCm39) V411M probably benign Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Syce1 A T 7: 140,358,978 (GRCm39) H178Q probably damaging Het
Syne2 T A 12: 76,151,754 (GRCm39) F1872I probably damaging Het
Tor1aip1 T C 1: 155,894,234 (GRCm39) E274G possibly damaging Het
Trpm1 A T 7: 63,918,045 (GRCm39) T462S probably benign Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn1r178 A G 7: 23,592,984 (GRCm39) T11A possibly damaging Het
Vmn2r69 A T 7: 85,061,067 (GRCm39) N172K probably benign Het
Whrn G T 4: 63,336,829 (GRCm39) P136T possibly damaging Het
Zfhx4 A G 3: 5,478,170 (GRCm39) N3570S probably damaging Het
Zfp689 A G 7: 127,043,968 (GRCm39) S221P probably damaging Het
Other mutations in Ccnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0076:Ccnd1 UTSW 7 144,493,402 (GRCm39) missense probably benign 0.00
R0544:Ccnd1 UTSW 7 144,491,023 (GRCm39) splice site probably benign
R1549:Ccnd1 UTSW 7 144,491,073 (GRCm39) missense probably benign
R2054:Ccnd1 UTSW 7 144,491,128 (GRCm39) missense possibly damaging 0.95
R3895:Ccnd1 UTSW 7 144,491,631 (GRCm39) missense probably damaging 0.98
R3962:Ccnd1 UTSW 7 144,487,787 (GRCm39) missense probably damaging 1.00
R5624:Ccnd1 UTSW 7 144,491,749 (GRCm39) missense probably benign 0.00
R5710:Ccnd1 UTSW 7 144,491,781 (GRCm39) missense possibly damaging 0.82
R7352:Ccnd1 UTSW 7 144,491,124 (GRCm39) missense possibly damaging 0.86
R7672:Ccnd1 UTSW 7 144,487,793 (GRCm39) missense possibly damaging 0.75
R7813:Ccnd1 UTSW 7 144,491,622 (GRCm39) critical splice donor site probably null
R7841:Ccnd1 UTSW 7 144,491,718 (GRCm39) missense probably damaging 1.00
R9764:Ccnd1 UTSW 7 144,491,770 (GRCm39) missense probably benign 0.01
X0026:Ccnd1 UTSW 7 144,491,689 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATACCGAGTCCTAGCAACGC -3'
(R):5'- TGTTGAAGTTGCAAAGTCCTG -3'

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