Incidental Mutation 'R1596:Mbd2'
ID 175838
Institutional Source Beutler Lab
Gene Symbol Mbd2
Ensembl Gene ENSMUSG00000024513
Gene Name methyl-CpG binding domain protein 2
Synonyms MBD2a
MMRRC Submission 039633-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1596 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 70701260-70759202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70749703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 306 (M306K)
Ref Sequence ENSEMBL: ENSMUSP00000073701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074058] [ENSMUST00000127260]
AlphaFold Q9Z2E1
Predicted Effect probably damaging
Transcript: ENSMUST00000074058
AA Change: M306K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073701
Gene: ENSMUSG00000024513
AA Change: M306K

DomainStartEndE-ValueType
low complexity region 15 31 N/A INTRINSIC
low complexity region 48 128 N/A INTRINSIC
low complexity region 133 145 N/A INTRINSIC
MBD 150 223 1.65e-29 SMART
Pfam:MBDa 226 295 1.3e-32 PFAM
Pfam:MBD_C 299 390 7.9e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133889
Meta Mutation Damage Score 0.4334 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 87.7%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for disruption sin this gene are grossly normal. Maternal nurturing problems exist however and they are somewhat resistant to dumor development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik A G 15: 37,426,018 (GRCm39) probably benign Het
Abca8a T A 11: 109,958,886 (GRCm39) Y745F possibly damaging Het
Abl1 A G 2: 31,680,350 (GRCm39) N316S probably damaging Het
Ackr2 T C 9: 121,738,278 (GRCm39) F218L probably damaging Het
Adam6b T A 12: 113,454,646 (GRCm39) Y488N probably damaging Het
Arhgap10 A G 8: 78,177,326 (GRCm39) I103T possibly damaging Het
Atm A G 9: 53,364,678 (GRCm39) V2669A probably damaging Het
Atp10b A G 11: 43,126,594 (GRCm39) K1117E probably damaging Het
Brinp3 T C 1: 146,390,520 (GRCm39) V22A probably benign Het
Casp8 G T 1: 58,870,833 (GRCm39) probably benign Het
Ccdc178 T A 18: 22,153,930 (GRCm39) K626N possibly damaging Het
Clcn6 T A 4: 148,107,836 (GRCm39) S193C probably damaging Het
Col11a1 C T 3: 113,946,262 (GRCm39) probably benign Het
Csn1s2b T A 5: 87,966,917 (GRCm39) probably benign Het
Cst5 T C 2: 149,247,329 (GRCm39) V15A unknown Het
Cttnbp2 A G 6: 18,408,591 (GRCm39) F1010S probably damaging Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dsg1c A G 18: 20,415,104 (GRCm39) Y667C probably damaging Het
Ep400 A T 5: 110,856,727 (GRCm39) probably benign Het
Fam83c C T 2: 155,672,982 (GRCm39) probably null Het
Fbxw20 C T 9: 109,050,368 (GRCm39) C419Y probably damaging Het
Fgd2 G A 17: 29,595,904 (GRCm39) V521I probably benign Het
Frrs1 A G 3: 116,676,848 (GRCm39) probably benign Het
Gli3 C A 13: 15,900,056 (GRCm39) Q1148K possibly damaging Het
Hdac5 G T 11: 102,095,482 (GRCm39) probably null Het
Ice1 C T 13: 70,753,014 (GRCm39) R1024H possibly damaging Het
Irak3 A T 10: 120,018,451 (GRCm39) I99N probably damaging Het
Klhl31 A G 9: 77,557,356 (GRCm39) D24G probably damaging Het
Lrba C T 3: 86,257,611 (GRCm39) Q1292* probably null Het
Map1a C T 2: 121,120,246 (GRCm39) A44V probably benign Het
Mrc1 C T 2: 14,253,701 (GRCm39) H241Y possibly damaging Het
Mrgprg A G 7: 143,318,431 (GRCm39) F227S possibly damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Ncf4 G A 15: 78,134,637 (GRCm39) E30K probably damaging Het
Nlrp4c C A 7: 6,069,777 (GRCm39) D559E probably benign Het
Nxpe4 T A 9: 48,307,855 (GRCm39) W320R probably damaging Het
Or10a3n T A 7: 108,493,086 (GRCm39) H176L probably damaging Het
Or52n4b T A 7: 108,144,290 (GRCm39) M184K possibly damaging Het
Or6z5 T C 7: 6,477,514 (GRCm39) L135P probably damaging Het
Pdzrn3 A G 6: 101,127,966 (GRCm39) V900A probably benign Het
Prcp T C 7: 92,567,042 (GRCm39) probably benign Het
Prkaa2 A T 4: 104,893,526 (GRCm39) D474E probably damaging Het
Prl3a1 A G 13: 27,443,600 (GRCm39) probably benign Het
Ptpra T A 2: 130,386,872 (GRCm39) Y624N probably damaging Het
Ramp1 T C 1: 91,151,022 (GRCm39) V129A possibly damaging Het
Reep1 G T 6: 71,733,421 (GRCm39) probably null Het
Robo3 C T 9: 37,335,928 (GRCm39) probably null Het
Sapcd2 T A 2: 25,266,422 (GRCm39) I403N probably damaging Het
Sdk2 T A 11: 113,729,435 (GRCm39) probably benign Het
Serpinb3a T C 1: 106,974,904 (GRCm39) M210V probably benign Het
Slc45a3 T A 1: 131,909,267 (GRCm39) I488N probably damaging Het
Tnrc6c C T 11: 117,648,867 (GRCm39) P1513S probably damaging Het
Trank1 T A 9: 111,195,358 (GRCm39) H1127Q possibly damaging Het
Trim67 T C 8: 125,552,878 (GRCm39) V660A probably damaging Het
Ubash3b A G 9: 40,942,793 (GRCm39) I233T probably benign Het
Unkl A G 17: 25,424,707 (GRCm39) R245G probably null Het
Other mutations in Mbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Mbd2 APN 18 70,726,371 (GRCm39) missense probably damaging 1.00
BB007:Mbd2 UTSW 18 70,701,948 (GRCm39) missense probably damaging 0.99
BB017:Mbd2 UTSW 18 70,701,948 (GRCm39) missense probably damaging 0.99
R1769:Mbd2 UTSW 18 70,749,690 (GRCm39) missense probably benign 0.02
R3915:Mbd2 UTSW 18 70,755,680 (GRCm39) missense probably benign 0.02
R4184:Mbd2 UTSW 18 70,751,050 (GRCm39) missense probably damaging 0.99
R4854:Mbd2 UTSW 18 70,701,806 (GRCm39) missense unknown
R6056:Mbd2 UTSW 18 70,713,874 (GRCm39) missense possibly damaging 0.91
R6722:Mbd2 UTSW 18 70,713,819 (GRCm39) missense probably damaging 0.99
R7930:Mbd2 UTSW 18 70,701,948 (GRCm39) missense probably damaging 0.99
R8950:Mbd2 UTSW 18 70,713,864 (GRCm39) missense probably damaging 1.00
R9778:Mbd2 UTSW 18 70,751,050 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACAGTAGGAGGCCATTGAACTGAC -3'
(R):5'- AACCATGTGAGAGCAGCAGTTACAG -3'

Sequencing Primer
(F):5'- GACTTCATTATTCAGCAGCACTG -3'
(R):5'- TGAGATGGAAACCCCTTTGTTC -3'
Posted On 2014-04-24