Incidental Mutation 'R4184:Mbd2'
ID 319896
Institutional Source Beutler Lab
Gene Symbol Mbd2
Ensembl Gene ENSMUSG00000024513
Gene Name methyl-CpG binding domain protein 2
Synonyms MBD2a
MMRRC Submission 041020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4184 (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 70751050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 362 (C362S)
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: C362S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073701
Gene: ENSMUSG00000024513
AA Change: C362S

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 0.6524 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 95% (55/58)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 A T 7: 143,447,858 (GRCm39) K234* probably null Het
Ccdc178 A G 18: 22,157,841 (GRCm39) L539P probably damaging Het
Cd5 T A 19: 10,698,638 (GRCm39) N423I probably damaging Het
Ceacam20 C T 7: 19,710,041 (GRCm39) T355I probably damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cln8 T C 8: 14,945,030 (GRCm39) F115L probably benign Het
Cpne9 T A 6: 113,259,418 (GRCm39) probably benign Het
Cyp4a32 C T 4: 115,478,720 (GRCm39) T484I possibly damaging Het
Des C G 1: 75,339,228 (GRCm39) A251G probably benign Het
Dnah3 T C 7: 119,682,516 (GRCm39) D270G probably damaging Het
Epc1 T C 18: 6,453,578 (GRCm39) E249G possibly damaging Het
Fsbp T A 4: 11,584,058 (GRCm39) N252K probably benign Het
Gramd1a C A 7: 30,831,940 (GRCm39) probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Igsf10 C T 3: 59,227,152 (GRCm39) V2174M probably damaging Het
Kcnu1 T C 8: 26,352,445 (GRCm39) L204P probably damaging Het
Kdm7a T C 6: 39,125,911 (GRCm39) E628G probably benign Het
Klhl36 T C 8: 120,601,124 (GRCm39) M381T probably damaging Het
Kpna3 A T 14: 61,605,624 (GRCm39) Y474N probably damaging Het
Lsm8 G T 6: 18,849,604 (GRCm39) probably benign Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Mex3b A G 7: 82,519,238 (GRCm39) R518G probably benign Het
Mical1 T C 10: 41,357,866 (GRCm39) probably benign Het
Myo18a T C 11: 77,748,613 (GRCm39) S1996P probably damaging Het
Or11g7 A G 14: 50,690,827 (GRCm39) Y106C probably damaging Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Otop2 T A 11: 115,220,671 (GRCm39) C504S probably benign Het
Pkhd1 T A 1: 20,279,501 (GRCm39) H2939L probably benign Het
Pkhd1 C T 1: 20,633,910 (GRCm39) V542M probably benign Het
Pkhd1l1 C T 15: 44,455,302 (GRCm39) T4021I probably benign Het
Prr36 T C 8: 4,263,409 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,813,650 (GRCm39) Y517F probably damaging Het
Pth1r A G 9: 110,571,300 (GRCm39) M1T probably null Het
Rdx C A 9: 51,978,680 (GRCm39) L163M probably damaging Het
Reep6 A G 10: 80,169,648 (GRCm39) Y112C probably damaging Het
Rpp21 A G 17: 36,568,611 (GRCm39) probably benign Het
Sacs T A 14: 61,451,393 (GRCm39) C4480S probably damaging Het
Slc15a1 G A 14: 121,703,574 (GRCm39) T512I probably benign Het
Slc22a22 A T 15: 57,119,962 (GRCm39) C170* probably null Het
Slc26a2 C T 18: 61,331,904 (GRCm39) R509K probably benign Het
Slc4a10 A G 2: 62,147,786 (GRCm39) probably benign Het
Stc1 A T 14: 69,266,834 (GRCm39) probably benign Het
Tbc1d32 T A 10: 56,100,676 (GRCm39) T101S probably benign Het
Tsc2 T C 17: 24,850,990 (GRCm39) T23A probably benign Het
Vmn1r52 T G 6: 90,156,219 (GRCm39) F174L probably benign Het
Zfp972 G A 2: 177,563,250 (GRCm39) Q56* probably null Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Zfpl1 A G 19: 6,131,170 (GRCm39) L274P probably damaging 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
R1596:Mbd2 UTSW 18 70,749,703 (GRCm39) missense probably damaging 0.98
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
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'- GCTCAGGAGTAGTTTCCTCTTACC -3'
(R):5'- ACTTACGGTGTCGGATCAGAC -3'

Sequencing Primer
(F):5'- GGAGTAGTTTCCTCTTACCAGCATTG -3'
(R):5'- TGAGCCTAAGGGCTTTCA -3'
Posted On 2015-06-10