Mutagenetix > Incidental Mutation

Incidental Mutation 'R1894:Mecp2'

211848

Institutional Source

Beutler Lab

Gene Symbol

Mecp2

Ensembl Gene

ENSMUSG00000031393

Gene Name

methyl CpG binding protein 2

Synonyms

WBP10, D630021H01Rik, 1500041B07Rik, Mbd5

MMRRC Submission

039914-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.600) question?

Stock #

R1894 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

73070198-73129296 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73080781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 79 (A79T)

Ref Sequence

ENSEMBL: ENSMUSP00000119947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033770] [ENSMUST00000100750] [ENSMUST00000123362] [ENSMUST00000140399] [ENSMUST00000170481]

AlphaFold

Q9Z2D6

Predicted Effect

unknown
Transcript: ENSMUST00000033770
AA Change: A79T

SMART Domains

Protein: ENSMUSP00000033770
Gene: ENSMUSG00000031393
AA Change: A79T

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	40	61	N/A	INTRINSIC
low complexity region	82	98	N/A	INTRINSIC
MBD	109	186	7.34e-36	SMART
AT_hook	202	214	5.16e0	SMART
low complexity region	248	255	N/A	INTRINSIC
AT_hook	282	294	1.2e2	SMART
low complexity region	357	420	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100750
AA Change: A62T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098314
Gene: ENSMUSG00000031393
AA Change: A62T

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
MBD	92	169	7.34e-36	SMART
AT_hook	185	197	5.16e0	SMART
low complexity region	231	238	N/A	INTRINSIC
AT_hook	265	277	1.2e2	SMART
low complexity region	340	403	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000123362
AA Change: A62T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118842
Gene: ENSMUSG00000031393
AA Change: A62T

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
MBD	92	166	1.19e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140399
AA Change: A79T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119947
Gene: ENSMUSG00000031393
AA Change: A79T

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	40	61	N/A	INTRINSIC
low complexity region	82	98	N/A	INTRINSIC
MBD	109	183	1.19e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170481
AA Change: A62T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127115
Gene: ENSMUSG00000031393
AA Change: A62T

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
MBD	92	169	7.34e-36	SMART
AT_hook	185	197	5.16e0	SMART
low complexity region	231	238	N/A	INTRINSIC
AT_hook	265	277	1.2e2	SMART
low complexity region	340	403	N/A	INTRINSIC

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Female mice homozygous or male mice hemizygous for a null allele exhibit premature death, behavioral and neurological abnormalities, abnormal nervous system phenotypes, abnormal breathing, and abnormal hearing. Heterozygous mice exhibit similar behavioral and neurological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Ago4	A	G	4: 126,406,393 (GRCm39)	Y306H	probably benign	Het
Cblc	T	C	7: 19,526,502 (GRCm39)	T196A	probably damaging	Het
Cfap52	T	A	11: 67,844,445 (GRCm39)		probably null	Het
Cops3	T	C	11: 59,710,844 (GRCm39)	N375S	probably benign	Het
Crb1	T	C	1: 139,170,931 (GRCm39)	T759A	probably benign	Het
Dnah3	T	C	7: 119,685,557 (GRCm39)	K153E	probably benign	Het
Elovl1	C	T	4: 118,287,945 (GRCm39)	S27F	probably damaging	Het
Erc2	A	G	14: 27,863,185 (GRCm39)	E804G	probably damaging	Het
Fam110b	G	T	4: 5,798,840 (GRCm39)	C86F	probably damaging	Het
Fbn1	T	A	2: 125,236,541 (GRCm39)	R380W	probably damaging	Het
Gatad2a	C	T	8: 70,369,301 (GRCm39)	R221Q	probably damaging	Het
Gcn1	C	T	5: 115,727,174 (GRCm39)	P677L	probably damaging	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Gm9817	T	C	13: 45,232,605 (GRCm39)	V136A	unknown	Het
Gmip	T	A	8: 70,273,622 (GRCm39)	L971H	probably damaging	Het
Gnptab	G	A	10: 88,254,989 (GRCm39)	E192K	possibly damaging	Het
Grm7	G	A	6: 111,335,568 (GRCm39)	V660I	probably benign	Het
Helz2	G	A	2: 180,876,082 (GRCm39)	P1471S	probably damaging	Het
Herc1	G	A	9: 66,386,743 (GRCm39)	G3786S	probably damaging	Het
Isg20	T	C	7: 78,569,647 (GRCm39)	V206A	probably benign	Het
Jund	T	A	8: 71,152,470 (GRCm39)	I255N	probably damaging	Het
Kcnt2	A	T	1: 140,353,079 (GRCm39)	I263F	probably damaging	Het
Kif2c	A	T	4: 117,019,420 (GRCm39)	L561Q	probably benign	Het
Klhl3	T	C	13: 58,157,189 (GRCm39)	D546G	probably damaging	Het
Klk1b4	A	T	7: 43,859,054 (GRCm39)	Q24L	probably benign	Het
Ltbp2	A	T	12: 84,834,735 (GRCm39)	C225S	probably damaging	Het
Mcub	T	C	3: 129,728,312 (GRCm39)	H55R	probably benign	Het
Med18	G	A	4: 132,187,242 (GRCm39)	R86*	probably null	Het
Mfsd2b	T	C	12: 4,919,155 (GRCm39)	E63G	probably damaging	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Myo15b	G	A	11: 115,777,899 (GRCm39)	G1049S	probably damaging	Het
Nfrkb	T	A	9: 31,326,064 (GRCm39)	V1169E	probably benign	Het
Nr2f2	T	A	7: 70,004,419 (GRCm39)	M411L	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nup214	A	T	2: 31,886,392 (GRCm39)	T585S	possibly damaging	Het
Or5m13	C	T	2: 85,748,599 (GRCm39)	T110I	probably benign	Het
Or6c214	A	T	10: 129,590,943 (GRCm39)	C125*	probably null	Het
Or7e177	T	C	9: 20,211,633 (GRCm39)	S47P	probably benign	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pih1d1	T	A	7: 44,807,165 (GRCm39)	I166N	probably damaging	Het
Prl2c5	T	C	13: 13,366,263 (GRCm39)	F181L	probably benign	Het
Prx	C	T	7: 27,218,535 (GRCm39)	T1012I	possibly damaging	Het
Rassf8	T	A	6: 145,754,199 (GRCm39)	V5E	probably damaging	Het
Rassf9	C	A	10: 102,380,755 (GRCm39)	R44S	possibly damaging	Het
Relch	A	T	1: 105,592,301 (GRCm39)	I157F	probably benign	Het
Sde2	G	A	1: 180,687,573 (GRCm39)	S153N	probably benign	Het
Sec16b	T	A	1: 157,380,545 (GRCm39)	M372K	possibly damaging	Het
Sgcd	A	T	11: 47,085,937 (GRCm39)	I71N	probably damaging	Het
Slco5a1	C	T	1: 12,942,483 (GRCm39)	C721Y	probably damaging	Het
Slx4ip	A	T	2: 136,910,038 (GRCm39)	K344N	probably benign	Het
Sorcs3	A	T	19: 48,782,713 (GRCm39)	Q1076L	probably benign	Het
Spata21	A	T	4: 140,838,692 (GRCm39)	N581I	possibly damaging	Het
Spata31d1d	G	T	13: 59,875,936 (GRCm39)	P533H	probably benign	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Tex14	T	G	11: 87,365,274 (GRCm39)	F61V	probably damaging	Het
Timp3	C	T	10: 86,181,716 (GRCm39)	R196*	probably null	Het
Tll2	A	G	19: 41,077,110 (GRCm39)		probably null	Het
Tppp	A	G	13: 74,169,326 (GRCm39)	D22G	possibly damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Uaca	T	C	9: 60,777,718 (GRCm39)	S702P	possibly damaging	Het
Uggt2	T	C	14: 119,287,130 (GRCm39)	E146G	probably damaging	Het
Vmn1r233	T	C	17: 21,213,994 (GRCm39)	S319G	probably benign	Het
Wdr47	A	T	3: 108,530,692 (GRCm39)	Q395L	possibly damaging	Het
Wrnip1	A	G	13: 32,989,319 (GRCm39)		probably null	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	probably damaging	Het

Other mutations in Mecp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Mecp2	APN	X	73,079,447 (GRCm39)	missense	possibly damaging	0.53
R1387:Mecp2	UTSW	X	73,079,394 (GRCm39)	missense	possibly damaging	0.93
R1888:Mecp2	UTSW	X	73,080,781 (GRCm39)	missense	probably damaging	1.00
R1888:Mecp2	UTSW	X	73,080,781 (GRCm39)	missense	probably damaging	1.00
R1891:Mecp2	UTSW	X	73,080,781 (GRCm39)	missense	probably damaging	1.00
R5890:Mecp2	UTSW	X	73,079,043 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATACTTTCCAGCAGATCGGC -3'
(R):5'- CCTATACTCACTACTGTGCAGAC -3'

Sequencing Primer
(F):5'- AGATCGGCCAGACTTCCTTTG -3'
(R):5'- GCAGACAGCTGTGTTCTCTGTAATAC -3'

Posted On

2014-06-30