Incidental Mutation 'R3915:Mbd2'
ID 309622
Institutional Source Beutler Lab
Gene Symbol Mbd2
Ensembl Gene ENSMUSG00000024513
Gene Name methyl-CpG binding domain protein 2
Synonyms MBD2a
MMRRC Submission 040913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3915 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 70701260-70759202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70755680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 382 (V382A)
Ref Sequence ENSEMBL: ENSMUSP00000073701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074058] [ENSMUST00000127260]
AlphaFold Q9Z2E1
Predicted Effect probably benign
Transcript: ENSMUST00000074058
AA Change: V382A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000073701
Gene: ENSMUSG00000024513
AA Change: V382A

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
Meta Mutation Damage Score 0.1014 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik G A 5: 3,627,248 (GRCm39) V75I possibly damaging Het
AA986860 A G 1: 130,670,344 (GRCm39) K189E probably benign Het
Abcf1 C T 17: 36,270,402 (GRCm39) R596H possibly damaging Het
Abtb3 C A 10: 85,468,134 (GRCm39) H810N probably damaging Het
Axl T C 7: 25,460,169 (GRCm39) probably benign Het
Birc6 A G 17: 74,886,603 (GRCm39) K644E probably benign Het
Btnl7-ps T A 17: 34,760,489 (GRCm39) noncoding transcript Het
Car8 A T 4: 8,184,576 (GRCm39) probably benign Het
Ccdc62 C T 5: 124,092,778 (GRCm39) R588C probably damaging Het
Clasp2 T G 9: 113,737,805 (GRCm39) S374A probably damaging Het
Ctnnb1 A G 9: 120,784,717 (GRCm39) H503R probably benign Het
Cwf19l2 A G 9: 3,456,776 (GRCm39) H703R probably damaging Het
Efcab7 A T 4: 99,735,375 (GRCm39) Q133L probably damaging Het
Ehmt2 T C 17: 35,122,443 (GRCm39) S280P probably damaging Het
Eif4a3l1 A T 6: 136,306,420 (GRCm39) T294S probably benign Het
Eomes A G 9: 118,310,341 (GRCm39) M351V probably benign Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Fam222b C G 11: 78,045,756 (GRCm39) P439R probably benign Het
Gbp11 T A 5: 105,478,978 (GRCm39) K153N probably damaging Het
Golim4 T C 3: 75,810,634 (GRCm39) T174A probably damaging Het
Grid1 A G 14: 35,242,684 (GRCm39) Y679C probably damaging Het
Gvin-ps5 A G 7: 105,929,445 (GRCm39) S151P probably benign Het
Ikzf3 T C 11: 98,381,412 (GRCm39) D56G probably damaging Het
Kcnj16 A G 11: 110,916,382 (GRCm39) D348G probably benign Het
Kidins220 T C 12: 25,103,957 (GRCm39) L1319P possibly damaging Het
Lrp1b T A 2: 41,339,248 (GRCm39) D751V probably damaging Het
Macc1 T C 12: 119,410,551 (GRCm39) C440R probably benign Het
Or13a17 T A 7: 140,270,888 (GRCm39) D23E probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Or6c68 G A 10: 129,158,178 (GRCm39) A229T probably benign Het
Pgs1 T G 11: 117,910,472 (GRCm39) S528A probably benign Het
Pitpnm3 T C 11: 72,003,110 (GRCm39) T67A probably damaging Het
Pnliprp2 T G 19: 58,748,794 (GRCm39) V33G probably damaging Het
Ptn T C 6: 36,720,282 (GRCm39) N90S probably damaging Het
Ptprt A T 2: 161,397,475 (GRCm39) probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrp1 G A 2: 117,119,122 (GRCm39) S505F probably damaging Het
Sesn1 G A 10: 41,770,886 (GRCm39) R139H probably benign Het
Slc17a7 T A 7: 44,818,144 (GRCm39) L23Q probably damaging Het
Slc30a10 G T 1: 185,187,333 (GRCm39) E25* probably null Het
Smco1 A G 16: 32,092,583 (GRCm39) I85V probably benign Het
Vmn1r76 A T 7: 11,664,496 (GRCm39) S239R probably benign Het
Zc3h7a A T 16: 10,974,074 (GRCm39) V237D possibly 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
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'- AGAGTTAGCCCTGTCTGGTTC -3'
(R):5'- TGAGTGTTGAGCAGGCTAC -3'

Sequencing Primer
(F):5'- AGCCCTGTCTGGTTCCTGTG -3'
(R):5'- AAGTAAATGCCTTCTCTCTGCAAGC -3'
Posted On 2015-04-17