Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Mbd2'

194740

Institutional Source

Beutler Lab

Gene Symbol

Mbd2

Ensembl Gene

ENSMUSG00000024513

Gene Name

methyl-CpG binding domain protein 2

Synonyms

MBD2a

MMRRC Submission

039800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70701260-70759202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70749690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 302 (I302V)

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: I302V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000073701
Gene: ENSMUSG00000024513
AA Change: I302V

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 benign
Transcript: ENSMUST00000127260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133889

Meta Mutation Damage Score

0.0876

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,644,519 (GRCm39)	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325 (GRCm39)	K1119N	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Abcc9	T	C	6: 142,573,194 (GRCm39)		probably benign	Het
Akap3	A	G	6: 126,842,809 (GRCm39)	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,968,740 (GRCm39)	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ascc3	T	C	10: 50,576,586 (GRCm39)	V847A	probably damaging	Het
Best3	A	G	10: 116,859,883 (GRCm39)	N381S	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Bmpr2	T	A	1: 59,907,520 (GRCm39)	L871Q	probably damaging	Het
Car13	T	A	3: 14,715,795 (GRCm39)	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 51,029,568 (GRCm39)	M165V	probably benign	Het
Cd4	A	T	6: 124,843,618 (GRCm39)	M431K	possibly damaging	Het
Cdh20	C	T	1: 109,980,606 (GRCm39)	T178I	probably damaging	Het
Ceacam3	C	T	7: 16,892,301 (GRCm39)	T348I	probably damaging	Het
Cfap54	C	T	10: 92,740,125 (GRCm39)		probably null	Het
Clcn6	A	T	4: 148,098,758 (GRCm39)		probably null	Het
Csf3	A	G	11: 98,593,246 (GRCm39)	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,567,505 (GRCm39)		probably benign	Het
Cyp2c69	A	G	19: 39,864,815 (GRCm39)	I221T	probably benign	Het
Dgcr2	T	C	16: 17,675,115 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,250 (GRCm39)	F474S	probably damaging	Het
Dnah1	T	C	14: 31,032,839 (GRCm39)	I399V	probably null	Het
Efcab14	T	A	4: 115,610,188 (GRCm39)	L183Q	probably damaging	Het
Evx2	A	G	2: 74,489,501 (GRCm39)	V88A	probably benign	Het
Exph5	A	G	9: 53,285,109 (GRCm39)	N730S	probably benign	Het
Farsb	T	A	1: 78,443,620 (GRCm39)	K196I	probably benign	Het
Fbln7	C	T	2: 128,735,682 (GRCm39)		probably benign	Het
Fhdc1	A	G	3: 84,356,085 (GRCm39)	F453S	probably damaging	Het
Gast	T	A	11: 100,227,684 (GRCm39)	W89R	probably damaging	Het
Gata2	A	G	6: 88,182,237 (GRCm39)	S402G	probably benign	Het
Gin1	T	A	1: 97,720,162 (GRCm39)	S386T	probably benign	Het
Golgb1	A	G	16: 36,736,363 (GRCm39)	E1870G	probably damaging	Het
Hivep3	T	A	4: 119,954,768 (GRCm39)	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,756,326 (GRCm39)	R486*	probably null	Het
Ifi209	G	A	1: 173,468,728 (GRCm39)	S186N	probably benign	Het
Ifih1	C	T	2: 62,436,738 (GRCm39)	A562T	probably damaging	Het
Itch	T	C	2: 155,014,481 (GRCm39)	L106S	probably damaging	Het
Itga4	T	A	2: 79,146,050 (GRCm39)		probably null	Het
Kdm4c	A	G	4: 74,199,234 (GRCm39)	S141G	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra3	T	C	6: 130,307,226 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,084,402 (GRCm39)	S923T	probably damaging	Het
Lama2	G	C	10: 27,084,403 (GRCm39)	F922L	probably benign	Het
Llgl1	G	A	11: 60,597,873 (GRCm39)	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,938,676 (GRCm39)	*301W	probably null	Het
Map1lc3b	C	T	8: 122,320,226 (GRCm39)		probably benign	Het
Med27	A	G	2: 29,390,307 (GRCm39)	Y78C	probably damaging	Het
Mei1	C	T	15: 81,996,771 (GRCm39)		probably null	Het
Mideas	G	A	12: 84,205,124 (GRCm39)		probably benign	Het
Miga1	T	C	3: 151,993,191 (GRCm39)	E346G	probably damaging	Het
Myef2	A	G	2: 124,957,363 (GRCm39)	S131P	probably damaging	Het
Myocd	T	C	11: 65,069,527 (GRCm39)	H899R	probably benign	Het
Ncam1	A	G	9: 49,456,556 (GRCm39)		probably benign	Het
Ngf	T	A	3: 102,427,513 (GRCm39)	N87K	possibly damaging	Het
Nol10	T	A	12: 17,466,709 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,385,231 (GRCm39)	I221V	probably benign	Het
Nup205	G	A	6: 35,182,366 (GRCm39)	G777D	probably damaging	Het
Or5ac17	A	G	16: 59,036,344 (GRCm39)	F211L	probably benign	Het
Or5b96	A	G	19: 12,867,047 (GRCm39)	V298A	probably damaging	Het
Or6c1	T	A	10: 129,518,081 (GRCm39)	T176S	probably benign	Het
Or7g35	A	T	9: 19,496,682 (GRCm39)	Q283L	probably damaging	Het
Or8d6	G	T	9: 39,854,251 (GRCm39)	D232Y	probably benign	Het
Oxt	A	T	2: 130,418,220 (GRCm39)	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,603,246 (GRCm39)	S2248P	probably benign	Het
Pias1	A	G	9: 62,859,460 (GRCm39)	V16A	probably damaging	Het
Pkp2	T	C	16: 16,080,561 (GRCm39)	S616P	probably damaging	Het
Plch2	T	C	4: 155,084,540 (GRCm39)	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,104,159 (GRCm39)	N540D	probably benign	Het
Ptpn23	G	A	9: 110,220,746 (GRCm39)	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,835,703 (GRCm39)	N237D	probably benign	Het
Ryr3	A	C	2: 112,582,113 (GRCm39)		probably null	Het
Sgk1	C	A	10: 21,873,007 (GRCm39)		probably benign	Het
Slc1a5	G	T	7: 16,531,464 (GRCm39)	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,755,326 (GRCm39)	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,755,328 (GRCm39)	Y478*	probably null	Het
Slc9a3	A	T	13: 74,311,190 (GRCm39)	M562L	probably benign	Het
Spmip4	A	G	6: 50,568,801 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,555,714 (GRCm39)	R57*	probably null	Het
Tiam1	T	C	16: 89,657,167 (GRCm39)	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,727,365 (GRCm39)	S47P	probably damaging	Het
Trim39	C	T	17: 36,574,832 (GRCm39)	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,085,073 (GRCm39)	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,873,003 (GRCm39)	T3304A	probably benign	Het
Wdr35	A	C	12: 9,062,728 (GRCm39)	D638A	probably damaging	Het
Wwc1	G	T	11: 35,752,671 (GRCm39)	P797T	probably benign	Het
Zan	T	A	5: 137,462,780 (GRCm39)	T800S	unknown	Het
Zbbx	A	G	3: 74,990,926 (GRCm39)		probably benign	Het
Zup1	T	C	10: 33,811,172 (GRCm39)	M291V	probably damaging	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
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
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'- CACAGTAGGAGGCCATTGAACTGAC -3'
(R):5'- AACCATGTGAGAGCAGCAGTTACAG -3'

Sequencing Primer
(F):5'- GACTTCATTATTCAGCAGCACTG -3'
(R):5'- TGAGATGGAAACCCCTTTGTTC -3'

Posted On

2014-05-23