Incidental Mutation 'R2252:Mbd5'
ID 241720
Institutional Source Beutler Lab
Gene Symbol Mbd5
Ensembl Gene ENSMUSG00000036792
Gene Name methyl-CpG binding domain protein 5
Synonyms OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik
MMRRC Submission 040252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2252 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 48839511-49209702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49147698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 636 (E636G)
Ref Sequence ENSEMBL: ENSMUSP00000108365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047413] [ENSMUST00000112745] [ENSMUST00000112754]
AlphaFold B1AYB6
Predicted Effect probably damaging
Transcript: ENSMUST00000047413
AA Change: E636G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: E636G

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Blast:MBD 24 77 9e-11 BLAST
low complexity region 332 342 N/A INTRINSIC
low complexity region 429 443 N/A INTRINSIC
low complexity region 459 467 N/A INTRINSIC
low complexity region 499 512 N/A INTRINSIC
low complexity region 535 546 N/A INTRINSIC
low complexity region 571 613 N/A INTRINSIC
low complexity region 699 719 N/A INTRINSIC
low complexity region 841 852 N/A INTRINSIC
low complexity region 912 932 N/A INTRINSIC
low complexity region 934 948 N/A INTRINSIC
low complexity region 992 1010 N/A INTRINSIC
low complexity region 1020 1035 N/A INTRINSIC
low complexity region 1112 1136 N/A INTRINSIC
low complexity region 1173 1184 N/A INTRINSIC
low complexity region 1206 1229 N/A INTRINSIC
low complexity region 1552 1562 N/A INTRINSIC
SCOP:d1khca_ 1615 1718 2e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112745
AA Change: E636G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108365
Gene: ENSMUSG00000036792
AA Change: E636G

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Blast:MBD 24 77 4e-11 BLAST
low complexity region 332 342 N/A INTRINSIC
low complexity region 429 443 N/A INTRINSIC
low complexity region 459 467 N/A INTRINSIC
low complexity region 499 512 N/A INTRINSIC
low complexity region 535 546 N/A INTRINSIC
low complexity region 571 613 N/A INTRINSIC
low complexity region 699 719 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112754
AA Change: E636G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: E636G

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Blast:MBD 24 77 8e-11 BLAST
low complexity region 332 342 N/A INTRINSIC
low complexity region 429 443 N/A INTRINSIC
low complexity region 459 467 N/A INTRINSIC
low complexity region 499 512 N/A INTRINSIC
low complexity region 535 546 N/A INTRINSIC
low complexity region 571 613 N/A INTRINSIC
low complexity region 699 719 N/A INTRINSIC
low complexity region 841 852 N/A INTRINSIC
low complexity region 912 932 N/A INTRINSIC
low complexity region 934 948 N/A INTRINSIC
low complexity region 976 999 N/A INTRINSIC
low complexity region 1322 1332 N/A INTRINSIC
SCOP:d1khca_ 1385 1488 4e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122841
AA Change: E375G

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: E375G

DomainStartEndE-ValueType
low complexity region 72 82 N/A INTRINSIC
low complexity region 169 183 N/A INTRINSIC
low complexity region 199 207 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 275 286 N/A INTRINSIC
low complexity region 311 353 N/A INTRINSIC
low complexity region 439 459 N/A INTRINSIC
low complexity region 581 592 N/A INTRINSIC
low complexity region 652 672 N/A INTRINSIC
low complexity region 674 688 N/A INTRINSIC
low complexity region 732 750 N/A INTRINSIC
low complexity region 760 775 N/A INTRINSIC
low complexity region 852 876 N/A INTRINSIC
low complexity region 913 924 N/A INTRINSIC
low complexity region 946 969 N/A INTRINSIC
low complexity region 1011 1022 N/A INTRINSIC
low complexity region 1056 1064 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199257
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozgyous for a knock-out allele exhibit severe postnatal growth retardation leading to lethality by P22, decreased body, brain and liver weights, reduced IGF-I and GH levels, and abnormal glucose homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acaca G T 11: 84,262,358 (GRCm39) V1987L probably damaging Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
BC048507 T C 13: 68,011,626 (GRCm39) M1T probably null Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd180 A T 13: 102,842,906 (GRCm39) K651* probably null Het
Cdh15 T A 8: 123,584,161 (GRCm39) D87E probably damaging Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cspg4 C T 9: 56,805,330 (GRCm39) T2047I probably damaging Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Cwc27 A T 13: 104,768,237 (GRCm39) H419Q probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Dock5 A T 14: 68,022,261 (GRCm39) L1171H probably damaging Het
Drc1 G T 5: 30,500,075 (GRCm39) V103F probably benign Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Faap20 A C 4: 155,335,010 (GRCm39) E37A possibly damaging Het
Foxa2 A G 2: 147,886,086 (GRCm39) F243S probably damaging Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
L1td1 A G 4: 98,625,874 (GRCm39) probably null Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Lrrc52 A T 1: 167,293,937 (GRCm39) I116N probably damaging Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
Nrip1 T C 16: 76,088,173 (GRCm39) Y1128C probably damaging Het
Or10d3 G T 9: 39,461,273 (GRCm39) A298D probably damaging Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or8c8 A G 9: 38,165,126 (GRCm39) I135V probably benign Het
Pard3 A T 8: 128,337,080 (GRCm39) E1232V probably damaging Het
Pcif1 A G 2: 164,732,799 (GRCm39) E628G probably benign Het
Pcsk1 C A 13: 75,274,845 (GRCm39) A478D probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Pknox2 T C 9: 36,821,816 (GRCm39) N270D probably benign Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Reep1 T A 6: 71,733,426 (GRCm39) probably null Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 A G 11: 87,480,637 (GRCm39) N405D possibly damaging Het
Serpinb3b T C 1: 107,083,208 (GRCm39) I231M possibly damaging Het
Serping1 A G 2: 84,600,195 (GRCm39) S322P probably damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spink5 G T 18: 44,153,891 (GRCm39) E1013* probably null Het
Thoc3 A T 13: 54,615,646 (GRCm39) N139K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tubb2b T A 13: 34,314,198 (GRCm39) I7F possibly damaging Het
Upf2 A G 2: 5,966,271 (GRCm39) D297G unknown Het
Vmn2r18 T C 5: 151,508,441 (GRCm39) I228V possibly damaging Het
Vmn2r98 A C 17: 19,300,698 (GRCm39) S567R probably benign Het
Vwa5a T C 9: 38,639,376 (GRCm39) I369T probably damaging Het
Yjefn3 A C 8: 70,342,095 (GRCm39) F42V probably damaging Het
Zfp472 A T 17: 33,195,257 (GRCm39) R69* probably null Het
Zfp536 T C 7: 37,178,814 (GRCm39) S200G probably benign Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null Het
Other mutations in Mbd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:Mbd5 APN 2 49,140,233 (GRCm39) missense possibly damaging 0.92
IGL01481:Mbd5 APN 2 49,168,951 (GRCm39) missense possibly damaging 0.90
IGL01639:Mbd5 APN 2 49,162,320 (GRCm39) missense probably damaging 0.98
IGL02063:Mbd5 APN 2 49,164,779 (GRCm39) missense probably damaging 1.00
IGL02157:Mbd5 APN 2 49,168,987 (GRCm39) missense probably benign
IGL02510:Mbd5 APN 2 49,147,041 (GRCm39) missense probably benign 0.05
IGL02932:Mbd5 APN 2 49,169,460 (GRCm39) missense possibly damaging 0.66
IGL02973:Mbd5 APN 2 49,203,721 (GRCm39) missense probably damaging 0.99
IGL03189:Mbd5 APN 2 49,147,763 (GRCm39) missense probably damaging 0.98
BB003:Mbd5 UTSW 2 49,146,335 (GRCm39) missense probably damaging 0.99
BB013:Mbd5 UTSW 2 49,146,335 (GRCm39) missense probably damaging 0.99
F5770:Mbd5 UTSW 2 49,206,422 (GRCm39) missense probably damaging 0.99
R0391:Mbd5 UTSW 2 49,162,428 (GRCm39) missense possibly damaging 0.90
R0427:Mbd5 UTSW 2 49,169,091 (GRCm39) missense probably benign 0.27
R0544:Mbd5 UTSW 2 49,147,221 (GRCm39) missense possibly damaging 0.54
R0883:Mbd5 UTSW 2 49,146,701 (GRCm39) missense possibly damaging 0.94
R1072:Mbd5 UTSW 2 49,147,203 (GRCm39) missense probably damaging 1.00
R1099:Mbd5 UTSW 2 49,148,156 (GRCm39) missense probably benign 0.06
R1400:Mbd5 UTSW 2 49,164,788 (GRCm39) critical splice donor site probably null
R1497:Mbd5 UTSW 2 49,147,393 (GRCm39) missense possibly damaging 0.73
R1552:Mbd5 UTSW 2 49,162,946 (GRCm39) missense probably damaging 0.99
R1675:Mbd5 UTSW 2 49,146,230 (GRCm39) missense possibly damaging 0.90
R1710:Mbd5 UTSW 2 49,147,044 (GRCm39) missense probably benign 0.10
R2085:Mbd5 UTSW 2 49,169,323 (GRCm39) missense possibly damaging 0.90
R2473:Mbd5 UTSW 2 49,169,353 (GRCm39) missense probably benign 0.06
R3966:Mbd5 UTSW 2 49,162,082 (GRCm39) missense possibly damaging 0.46
R4278:Mbd5 UTSW 2 49,162,305 (GRCm39) missense probably damaging 0.97
R4348:Mbd5 UTSW 2 49,146,339 (GRCm39) missense probably benign
R4366:Mbd5 UTSW 2 49,162,978 (GRCm39) missense probably damaging 0.99
R4428:Mbd5 UTSW 2 49,169,776 (GRCm39) missense possibly damaging 0.94
R4556:Mbd5 UTSW 2 49,169,406 (GRCm39) missense probably damaging 1.00
R4600:Mbd5 UTSW 2 49,147,209 (GRCm39) missense probably benign 0.31
R4689:Mbd5 UTSW 2 49,148,291 (GRCm39) missense possibly damaging 0.46
R4707:Mbd5 UTSW 2 49,140,168 (GRCm39) missense probably damaging 0.99
R4718:Mbd5 UTSW 2 49,146,414 (GRCm39) missense possibly damaging 0.66
R4773:Mbd5 UTSW 2 49,164,623 (GRCm39) missense probably damaging 1.00
R4846:Mbd5 UTSW 2 49,147,009 (GRCm39) missense probably damaging 1.00
R5015:Mbd5 UTSW 2 49,148,208 (GRCm39) missense possibly damaging 0.92
R5059:Mbd5 UTSW 2 49,146,467 (GRCm39) missense probably damaging 0.96
R5268:Mbd5 UTSW 2 49,162,106 (GRCm39) missense possibly damaging 0.92
R5479:Mbd5 UTSW 2 49,162,917 (GRCm39) missense probably damaging 0.99
R5579:Mbd5 UTSW 2 49,162,826 (GRCm39) missense possibly damaging 0.94
R5591:Mbd5 UTSW 2 49,164,681 (GRCm39) missense probably damaging 1.00
R5876:Mbd5 UTSW 2 49,164,657 (GRCm39) missense probably damaging 0.98
R5886:Mbd5 UTSW 2 49,162,464 (GRCm39) missense probably damaging 1.00
R5973:Mbd5 UTSW 2 49,162,401 (GRCm39) missense probably benign 0.23
R6935:Mbd5 UTSW 2 49,169,824 (GRCm39) missense probably damaging 0.97
R7317:Mbd5 UTSW 2 49,169,755 (GRCm39) missense probably benign
R7366:Mbd5 UTSW 2 49,164,580 (GRCm39) missense probably benign
R7385:Mbd5 UTSW 2 49,162,461 (GRCm39) missense probably benign 0.01
R7402:Mbd5 UTSW 2 49,147,566 (GRCm39) missense probably damaging 1.00
R7462:Mbd5 UTSW 2 49,147,892 (GRCm39) missense possibly damaging 0.52
R7549:Mbd5 UTSW 2 49,141,355 (GRCm39) missense probably damaging 0.97
R7916:Mbd5 UTSW 2 49,147,118 (GRCm39) missense probably damaging 0.99
R7926:Mbd5 UTSW 2 49,146,335 (GRCm39) missense probably damaging 0.99
R7960:Mbd5 UTSW 2 49,169,796 (GRCm39) critical splice donor site probably null
R8273:Mbd5 UTSW 2 49,168,891 (GRCm39) missense probably damaging 0.99
R8909:Mbd5 UTSW 2 49,169,233 (GRCm39) missense probably benign 0.13
R9121:Mbd5 UTSW 2 49,148,102 (GRCm39) missense possibly damaging 0.59
R9149:Mbd5 UTSW 2 49,141,388 (GRCm39) missense probably damaging 0.98
R9443:Mbd5 UTSW 2 49,146,712 (GRCm39) missense probably damaging 0.99
R9506:Mbd5 UTSW 2 49,162,919 (GRCm39) missense probably damaging 0.96
R9566:Mbd5 UTSW 2 49,169,521 (GRCm39) missense probably damaging 0.96
R9756:Mbd5 UTSW 2 49,169,283 (GRCm39) missense probably benign 0.07
V7583:Mbd5 UTSW 2 49,206,422 (GRCm39) missense probably damaging 0.99
Z1176:Mbd5 UTSW 2 49,169,320 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTTTACTCTCAGCAGCAGCC -3'
(R):5'- CAAGTGAGAGCTTTGACAACTC -3'

Sequencing Primer
(F):5'- GCAGCCAAAGCACAGCTAG -3'
(R):5'- GTGAGAGCTTTGACAACTCATAGAC -3'
Posted On 2014-10-16