Incidental Mutation 'R2054:Ccnd1'
ID 226522
Institutional Source Beutler Lab
Gene Symbol Ccnd1
Ensembl Gene ENSMUSG00000070348
Gene Name cyclin D1
Synonyms bcl-1, Cyl-1, CycD1, cD1, PRAD1
MMRRC Submission 040059-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R2054 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 144483668-144493568 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 144491128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 159 (D159E)
Ref Sequence ENSEMBL: ENSMUSP00000091495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093962]
AlphaFold P25322
Predicted Effect possibly damaging
Transcript: ENSMUST00000093962
AA Change: D159E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091495
Gene: ENSMUSG00000070348
AA Change: D159E

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 0.4003 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,562 (GRCm39) C94S possibly damaging Het
A930011G23Rik T C 5: 99,375,914 (GRCm39) Y432C probably benign Het
Abtb2 A G 2: 103,535,462 (GRCm39) D543G probably benign Het
Adam9 A T 8: 25,481,310 (GRCm39) V318E probably damaging Het
Aim2 T C 1: 173,291,548 (GRCm39) F318L probably damaging Het
Apob A T 12: 8,063,134 (GRCm39) D3872V probably damaging Het
Atat1 T A 17: 36,212,261 (GRCm39) R323W probably null Het
Atp2b4 T C 1: 133,642,907 (GRCm39) D1066G probably benign Het
Bltp1 A G 3: 37,002,002 (GRCm39) T1316A probably benign Het
Caskin2 T C 11: 115,697,127 (GRCm39) probably benign Het
Cblif G A 19: 11,736,370 (GRCm39) V314I probably benign Het
Ccdc54 T A 16: 50,410,987 (GRCm39) N93I probably damaging Het
Cnot1 A C 8: 96,466,469 (GRCm39) S1589R possibly damaging Het
Copa T A 1: 171,946,524 (GRCm39) Y980* probably null Het
Defb19 A G 2: 152,418,090 (GRCm39) I82T possibly damaging Het
Elapor2 C A 5: 9,513,030 (GRCm39) T1008K possibly damaging Het
Fiz1 G A 7: 5,011,235 (GRCm39) R428C probably damaging Het
Fnip2 A T 3: 79,479,772 (GRCm39) probably benign Het
Gabrb3 G A 7: 57,474,241 (GRCm39) G408S probably benign Het
Hao1 C T 2: 134,340,178 (GRCm39) silent Het
Hecw1 T A 13: 14,471,998 (GRCm39) M557L probably damaging Het
Itch A T 2: 155,052,496 (GRCm39) I699F probably damaging Het
Kmt2a T C 9: 44,734,671 (GRCm39) probably benign Het
Leng8 T G 7: 4,147,289 (GRCm39) Y562* probably null Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1b A T 2: 40,587,494 (GRCm39) N151K unknown Het
Lrrc71 T C 3: 87,649,980 (GRCm39) E316G probably damaging Het
Mgat5 A G 1: 127,325,344 (GRCm39) N404D probably damaging Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Mtor A G 4: 148,547,309 (GRCm39) T431A probably benign Het
Mtor T A 4: 148,550,482 (GRCm39) C713S probably benign Het
Mug2 A G 6: 122,054,451 (GRCm39) K1077E probably damaging Het
Nbas A G 12: 13,524,207 (GRCm39) T1688A probably benign Het
Nek2 T C 1: 191,553,764 (GRCm39) S3P possibly damaging Het
Nell2 T C 15: 95,332,990 (GRCm39) T190A probably benign Het
Npr2 A T 4: 43,646,560 (GRCm39) N636I probably damaging Het
Orc3 A T 4: 34,584,846 (GRCm39) I453K probably damaging Het
Pcnx1 A G 12: 81,980,448 (GRCm39) H865R probably benign Het
Pex1 T C 5: 3,653,341 (GRCm39) V80A possibly damaging Het
Phka2 T A X: 159,337,323 (GRCm39) D424E probably damaging Het
Pkd1 C T 17: 24,793,770 (GRCm39) T1819I probably benign Het
Poglut1 T C 16: 38,355,169 (GRCm39) D219G probably damaging Het
Ppargc1a T C 5: 51,631,130 (GRCm39) I500V possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pygm C G 19: 6,438,185 (GRCm39) N163K probably benign Het
Qrich1 T A 9: 108,436,469 (GRCm39) N722K possibly damaging Het
Reep6 T A 10: 80,166,156 (GRCm39) C104* probably null Het
Rfx8 A G 1: 39,724,719 (GRCm39) V214A possibly damaging Het
Sis G A 3: 72,820,570 (GRCm39) T1398I probably benign Het
Skint5 A G 4: 113,676,360 (GRCm39) probably null Het
Slc7a14 A G 3: 31,291,511 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,948 (GRCm39) M646K probably benign Het
Snx29 A G 16: 11,449,356 (GRCm39) N165S probably damaging Het
Supt6 T A 11: 78,115,187 (GRCm39) probably benign Het
Tead4 G T 6: 128,247,925 (GRCm39) S37R probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tex56 T A 13: 35,108,574 (GRCm39) Y19N probably damaging Het
Tff2 T C 17: 31,362,199 (GRCm39) K40E probably benign Het
Traip C T 9: 107,840,118 (GRCm39) T265M probably benign Het
Trim47 T C 11: 115,999,109 (GRCm39) T256A probably benign Het
Trpm1 A G 7: 63,890,303 (GRCm39) M853V possibly damaging Het
Tti1 G T 2: 157,849,365 (GRCm39) Q625K possibly damaging Het
Ube2n A G 10: 95,377,128 (GRCm39) N31S probably damaging Het
Vmn2r17 T C 5: 109,600,352 (GRCm39) M550T probably damaging Het
Zfp512 T A 5: 31,622,793 (GRCm39) N31K probably benign Het
Zfp64 A G 2: 168,767,728 (GRCm39) V628A 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
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
R6380:Ccnd1 UTSW 7 144,493,306 (GRCm39) missense probably benign 0.00
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'- AGGAAAGAGGCCTTAACCCC -3'
(R):5'- ACTCTGAAATGTGGGCGGTG -3'

Sequencing Primer
(F):5'- CCAGGGGGAGTGGCAAG -3'
(R):5'- GAGATTCTTTTTGTCCGCAGTC -3'
Posted On 2014-09-17