Mutagenetix > Incidental Mutation

Incidental Mutation 'R6722:Mbd2'

529662

Institutional Source

Beutler Lab

Gene Symbol

Mbd2

Ensembl Gene

ENSMUSG00000024513

Gene Name

methyl-CpG binding domain protein 2

Synonyms

MBD2a

MMRRC Submission

044840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70701260-70759202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70713819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 216 (M216K)

Ref Sequence

ENSEMBL: ENSMUSP00000110596 (fasta)

Gene Model

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

AlphaFold

Q9Z2E1

Predicted Effect

probably damaging
Transcript: ENSMUST00000074058
AA Change: M216K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073701
Gene: ENSMUSG00000024513
AA Change: M216K

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: M216K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110596
Gene: ENSMUSG00000024513
AA Change: M216K

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 benign
Transcript: ENSMUST00000127260

Meta Mutation Damage Score

0.5628

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (52/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,468,228 (GRCm39)	D131A	probably damaging	Het
Ank3	T	C	10: 69,826,074 (GRCm39)		probably benign	Het
Atp1a4	T	C	1: 172,085,617 (GRCm39)		probably benign	Het
Bmal2	T	A	6: 146,720,398 (GRCm39)	D187E	probably damaging	Het
Castor2	T	C	5: 134,164,458 (GRCm39)	S140P	probably benign	Het
Ccdc162	T	C	10: 41,520,637 (GRCm39)	N673S	probably benign	Het
Cd84	G	A	1: 171,700,344 (GRCm39)	V154M	probably damaging	Het
Celsr1	C	A	15: 85,790,115 (GRCm39)		probably null	Het
Cfap57	A	C	4: 118,441,914 (GRCm39)	L718R	probably damaging	Het
Cntnap5b	G	A	1: 100,406,211 (GRCm39)	V803M	probably damaging	Het
Col6a2	C	T	10: 76,450,392 (GRCm39)	V180I	probably damaging	Het
Coq4	A	T	2: 29,678,297 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,012,983 (GRCm39)	T389A	probably benign	Het
Dennd1c	T	C	17: 57,373,802 (GRCm39)	D587G	probably benign	Het
Dnaja4	A	G	9: 54,607,038 (GRCm39)	D9G	probably damaging	Het
Hes2	T	G	4: 152,244,834 (GRCm39)	L101R	probably damaging	Het
Icam2	A	G	11: 106,273,307 (GRCm39)	S2P	probably damaging	Het
Krt31	A	G	11: 99,939,254 (GRCm39)	L221P	probably damaging	Het
Lipm	A	T	19: 34,098,665 (GRCm39)	N380Y	probably benign	Het
Lrp2bp	G	A	8: 46,473,600 (GRCm39)		probably null	Het
Mrps33	T	C	6: 39,782,599 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,462,060 (GRCm39)	D1459G	probably damaging	Het
Ncapd3	T	C	9: 26,998,852 (GRCm39)	S1281P	probably benign	Het
Nt5c1b	T	A	12: 10,422,874 (GRCm39)	Y56N	possibly damaging	Het
Nthl1	A	G	17: 24,853,008 (GRCm39)	K71E	probably benign	Het
Or4f62	T	A	2: 111,987,227 (GRCm39)	N310K	probably benign	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pde4a	G	A	9: 21,122,521 (GRCm39)	A806T	probably damaging	Het
Pde4d	C	A	13: 109,769,432 (GRCm39)	S40*	probably null	Het
Pde4dip	G	A	3: 97,625,555 (GRCm39)	R1348*	probably null	Het
Pdx1	C	T	5: 147,207,310 (GRCm39)	P88S	probably damaging	Het
Pnisr	T	A	4: 21,859,165 (GRCm39)	V120D	probably damaging	Het
Prss51	G	T	14: 64,332,508 (GRCm39)	C65F	probably damaging	Het
Pus10	G	A	11: 23,652,975 (GRCm39)	E195K	possibly damaging	Het
Pzp	T	A	6: 128,464,917 (GRCm39)	Q1319L	probably damaging	Het
Rbpms	G	T	8: 34,324,421 (GRCm39)	T101K	probably damaging	Het
Rundc3a	A	G	11: 102,290,775 (GRCm39)	N281S	possibly damaging	Het
Scml4	C	T	10: 42,736,728 (GRCm39)		probably benign	Het
Sez6	T	C	11: 77,844,528 (GRCm39)	V117A	probably damaging	Het
Sgsm2	A	C	11: 74,756,250 (GRCm39)	C366W	probably damaging	Het
Slc12a4	T	C	8: 106,670,882 (GRCm39)		probably null	Het
Smg5	C	T	3: 88,260,332 (GRCm39)	R641C	probably damaging	Het
Stxbp3	A	G	3: 108,723,762 (GRCm39)	Y150H	probably benign	Het
Thoc2l	T	A	5: 104,668,145 (GRCm39)	M889K	probably damaging	Het
Tkt	T	C	14: 30,291,041 (GRCm39)	F351S	probably damaging	Het
Tln1	A	G	4: 43,547,618 (GRCm39)	L781P	probably damaging	Het
Triobp	G	A	15: 78,885,765 (GRCm39)	E1823K	probably damaging	Het
Ttll4	T	C	1: 74,720,948 (GRCm39)	V538A	possibly damaging	Het
Uba52rt	A	G	4: 3,973,386 (GRCm39)	Y59H	probably benign	Het
Vmn1r61	T	A	7: 5,613,687 (GRCm39)	N209I	possibly damaging	Het
Wdr75	T	A	1: 45,844,512 (GRCm39)		probably null	Het
Zfp985	T	C	4: 147,667,528 (GRCm39)	V132A	probably benign	Het
Zswim3	T	A	2: 164,662,544 (GRCm39)		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
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'- TTCAGGAAGCTAAGGAGTTCC -3'
(R):5'- CTAAGTGCCAGAGACACTCAGG -3'

Sequencing Primer
(F):5'- CAGGTTAAAAAGGTTATATAGGGGTC -3'
(R):5'- GGCAACCAAGATCTCAGCAG -3'

Posted On

2018-08-01