Incidental Mutation 'R4878:Ccndbp1'
ID 375038
Institutional Source Beutler Lab
Gene Symbol Ccndbp1
Ensembl Gene ENSMUSG00000023572
Gene Name cyclin D-type binding-protein 1
Synonyms SSEC-8, GCIP, Maid, stage specific embryonic cDNA-8, DIP1
MMRRC Submission 042487-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120838884-120847385 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 120845172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 363 (L363*)
Ref Sequence ENSEMBL: ENSMUSP00000125961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060455] [ENSMUST00000099488] [ENSMUST00000099489] [ENSMUST00000102490] [ENSMUST00000171260]
AlphaFold Q3TVC7
Predicted Effect probably benign
Transcript: ENSMUST00000060455
SMART Domains Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572

DomainStartEndE-ValueType
Pfam:GCIP 50 318 4.2e-93 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000099488
AA Change: L363*
SMART Domains Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572
AA Change: L363*

DomainStartEndE-ValueType
Pfam:GCIP 50 311 4.8e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099489
SMART Domains Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572

DomainStartEndE-ValueType
Pfam:GCIP 3 271 3.7e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102490
SMART Domains Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216

DomainStartEndE-ValueType
Pfam:Transglut_N 6 124 5.8e-34 PFAM
TGc 260 353 3.52e-27 SMART
low complexity region 442 458 N/A INTRINSIC
Pfam:Transglut_C 475 580 8e-23 PFAM
Pfam:Transglut_C 588 686 8.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129717
Predicted Effect probably null
Transcript: ENSMUST00000171260
AA Change: L363*
SMART Domains Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572
AA Change: L363*

DomainStartEndE-ValueType
Pfam:GCIP 52 309 4.7e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145812
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit a delay in G1/S-phase progression of hepatocytes after partial hepatectomy and develop hepatocellular carcinomas at an advanced age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Cdh16 A T 8: 105,344,696 (GRCm39) D478E probably damaging Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif13b T C 14: 65,043,603 (GRCm39) L1801P probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Nup107 A T 10: 117,587,323 (GRCm39) C859S probably benign Het
Or1d2 T C 11: 74,255,674 (GRCm39) Y60H probably damaging Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rad51 T C 2: 118,950,973 (GRCm39) probably benign Het
Rbm48 A T 5: 3,641,853 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Rufy2 A T 10: 62,837,990 (GRCm39) N379I probably damaging Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Smo A G 6: 29,753,570 (GRCm39) T149A probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tfpi A G 2: 84,282,899 (GRCm39) probably null Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* probably null Het
Other mutations in Ccndbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02305:Ccndbp1 APN 2 120,841,933 (GRCm39) missense probably damaging 1.00
R0141:Ccndbp1 UTSW 2 120,842,903 (GRCm39) missense probably damaging 1.00
R3774:Ccndbp1 UTSW 2 120,839,581 (GRCm39) missense possibly damaging 0.80
R4490:Ccndbp1 UTSW 2 120,842,876 (GRCm39) missense probably damaging 0.97
R4695:Ccndbp1 UTSW 2 120,845,208 (GRCm39) unclassified probably benign
R4783:Ccndbp1 UTSW 2 120,839,003 (GRCm39) missense probably benign 0.00
R4784:Ccndbp1 UTSW 2 120,839,003 (GRCm39) missense probably benign 0.00
R4785:Ccndbp1 UTSW 2 120,839,003 (GRCm39) missense probably benign 0.00
R5637:Ccndbp1 UTSW 2 120,842,165 (GRCm39) missense probably benign 0.08
R5687:Ccndbp1 UTSW 2 120,845,183 (GRCm39) unclassified probably benign
R6363:Ccndbp1 UTSW 2 120,843,454 (GRCm39) missense probably damaging 1.00
R6913:Ccndbp1 UTSW 2 120,840,347 (GRCm39) missense probably benign 0.01
R7192:Ccndbp1 UTSW 2 120,843,424 (GRCm39) missense probably damaging 1.00
R7601:Ccndbp1 UTSW 2 120,846,627 (GRCm39) missense probably damaging 0.99
R8071:Ccndbp1 UTSW 2 120,845,046 (GRCm39) missense unknown
R8283:Ccndbp1 UTSW 2 120,839,065 (GRCm39) unclassified probably benign
R9442:Ccndbp1 UTSW 2 120,839,013 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGTGCATTAAGGAGCAATCTTTG -3'
(R):5'- CCCTGCCAGTTACATCAGTGAG -3'

Sequencing Primer
(F):5'- CAGGTGAATGTGTGGACACTC -3'
(R):5'- TCAGTGAGATGAACTGGAGGTC -3'
Posted On 2016-03-17