Mutagenetix > Incidental Mutation

Incidental Mutation 'R8950:Mbd2'

681607

Institutional Source

Beutler Lab

Gene Symbol

Mbd2

Ensembl Gene

ENSMUSG00000024513

Gene Name

methyl-CpG binding domain protein 2

Synonyms

MBD2a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8950 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70701260-70759202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70713864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 231 (D231G)

Ref Sequence

ENSEMBL: ENSMUSP00000073701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074058] [ENSMUST00000114946] [ENSMUST00000127260]

AlphaFold

Q9Z2E1

Predicted Effect

probably damaging
Transcript: ENSMUST00000074058
AA Change: D231G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073701
Gene: ENSMUSG00000024513
AA Change: D231G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000114946
AA Change: D231G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110596
Gene: ENSMUSG00000024513
AA Change: D231G

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably damaging
Transcript: ENSMUST00000127260
AA Change: D2G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,823,595 (GRCm39)	F374S	possibly damaging	Het
Abca14	T	A	7: 119,823,644 (GRCm39)	Y390*	probably null	Het
Abca9	T	C	11: 110,054,206 (GRCm39)		probably null	Het
Anxa1	G	T	19: 20,352,662 (GRCm39)	S304*	probably null	Het
Aspm	G	A	1: 139,406,690 (GRCm39)	R1859Q	probably damaging	Het
Atp13a5	A	T	16: 29,197,314 (GRCm39)	N14K	probably damaging	Het
Bmpr1a	G	T	14: 34,163,148 (GRCm39)	H81N	possibly damaging	Het
Camkv	C	T	9: 107,824,296 (GRCm39)	T236I	probably damaging	Het
Carm1	T	A	9: 21,490,789 (GRCm39)	M219K	probably damaging	Het
Ccdc162	T	C	10: 41,474,507 (GRCm39)	R1352G	probably benign	Het
Cd200l1	A	T	16: 45,263,007 (GRCm39)	V44D	possibly damaging	Het
Cib1	A	G	7: 79,878,211 (GRCm39)	L89P	probably damaging	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Crebbp	A	G	16: 4,031,023 (GRCm39)	F22S	probably damaging	Het
Csf2rb	A	T	15: 78,232,520 (GRCm39)	D609V	probably benign	Het
Csn1s1	T	C	5: 87,824,482 (GRCm39)		probably null	Het
Dchs1	A	T	7: 105,408,212 (GRCm39)	H1873Q	probably benign	Het
Dnah1	T	C	14: 31,012,396 (GRCm39)	D1901G	probably damaging	Het
Dock10	G	T	1: 80,519,016 (GRCm39)	T1235N	probably benign	Het
Eddm3b	T	A	14: 51,354,110 (GRCm39)	S33T	probably damaging	Het
Fam151b	A	T	13: 92,610,567 (GRCm39)	M74K	probably damaging	Het
Fat1	T	A	8: 45,476,158 (GRCm39)	F1735I	probably damaging	Het
Fcgbpl1	A	G	7: 27,863,751 (GRCm39)	R2508G	probably benign	Het
Fip1l1	T	G	5: 74,756,524 (GRCm39)	S505R	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gpr180	A	G	14: 118,395,452 (GRCm39)	I295V	probably benign	Het
Gtf3c2	G	A	5: 31,331,151 (GRCm39)	T175I	probably damaging	Het
Hmcn2	T	C	2: 31,244,741 (GRCm39)	Y733H	probably damaging	Het
Irs1	T	A	1: 82,264,652 (GRCm39)	Q1188L	probably benign	Het
Kcnk5	T	C	14: 20,192,046 (GRCm39)	R372G	probably benign	Het
Kdm5b	T	A	1: 134,541,664 (GRCm39)	N746K	possibly damaging	Het
Kdm7a	T	C	6: 39,123,903 (GRCm39)	I754V	probably benign	Het
Mad2l1bp	G	A	17: 46,458,891 (GRCm39)	T213I	possibly damaging	Het
Map2	G	T	1: 66,419,684 (GRCm39)	R5L	probably damaging	Het
Map4	G	A	9: 109,901,702 (GRCm39)	V781M	possibly damaging	Het
Negr1	C	A	3: 156,721,906 (GRCm39)	P160Q	probably damaging	Het
Nfya	A	T	17: 48,700,489 (GRCm39)		probably benign	Het
Nlk	T	C	11: 78,586,758 (GRCm39)	Q112R	probably benign	Het
Obscn	C	A	11: 58,947,009 (GRCm39)	A4339S	probably damaging	Het
Or3a10	A	G	11: 73,935,782 (GRCm39)	F106S	possibly damaging	Het
Or5b99	A	T	19: 12,976,445 (GRCm39)	I32F	probably damaging	Het
Pcdhb12	A	G	18: 37,570,590 (GRCm39)	T579A	probably benign	Het
Pcdhb2	G	A	18: 37,429,715 (GRCm39)	V563M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Piezo1	T	C	8: 123,208,729 (GRCm39)	R2545G	probably benign	Het
Plcb1	A	G	2: 135,179,439 (GRCm39)	N616D	probably damaging	Het
Pogk	A	T	1: 166,226,394 (GRCm39)	F586I	probably damaging	Het
Polr1f	T	A	12: 33,483,526 (GRCm39)	Y93N	probably damaging	Het
Prkg2	T	A	5: 99,119,815 (GRCm39)	I435F	possibly damaging	Het
Prrt4	T	C	6: 29,177,665 (GRCm39)	T35A	probably damaging	Het
Rad17	A	G	13: 100,767,576 (GRCm39)	S342P	probably damaging	Het
Rpl36-ps4	A	G	17: 88,228,574 (GRCm39)	T40A	probably damaging	Het
Skint5	T	C	4: 113,374,349 (GRCm39)	T1247A	unknown	Het
Slc22a14	A	G	9: 118,998,778 (GRCm39)	L182P	possibly damaging	Het
Slc35b3	T	C	13: 39,138,097 (GRCm39)	D104G	probably damaging	Het
Sult2a1	A	G	7: 13,530,342 (GRCm39)	F266L	probably damaging	Het
Sult2a2	A	T	7: 13,467,484 (GRCm39)	M1L	probably damaging	Het
Tat	T	A	8: 110,718,337 (GRCm39)	I74N	probably damaging	Het
Trappc6a	G	T	7: 19,249,923 (GRCm39)		probably benign	Het
Usp44	A	G	10: 93,682,129 (GRCm39)	E193G	possibly damaging	Het
Virma	C	T	4: 11,519,047 (GRCm39)	Q765*	probably null	Het
Vmn1r46	T	C	6: 89,954,053 (GRCm39)	S301P	probably damaging	Het
Vmn2r116	A	T	17: 23,620,467 (GRCm39)	I734F	probably damaging	Het
Vmn2r5	A	T	3: 64,398,522 (GRCm39)	V819D	probably damaging	Het
Vmn2r74	A	G	7: 85,606,569 (GRCm39)	I259T	probably damaging	Het
Vps13a	A	G	19: 16,723,340 (GRCm39)	I286T	probably damaging	Het
Wdr73	T	C	7: 80,550,131 (GRCm39)	I55V	probably benign	Het
Znhit2	A	T	19: 6,111,803 (GRCm39)	R183*	probably null	Het

Other mutations in Mbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9778:Mbd2	UTSW	18	70,751,050 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTCAGGAAGCTAAGGAGTTCC -3'
(R):5'- AACACTGCTTTCTTCTGTGCAG -3'

Sequencing Primer
(F):5'- GAAGCTACTACTATTTCCCTTTGTAC -3'
(R):5'- GCAGTCATTTACACTGTTTCTATGG -3'

Posted On

2021-08-31