Incidental Mutation 'R1387:Mecp2'
ID 162471
Institutional Source Beutler Lab
Gene Symbol Mecp2
Ensembl Gene ENSMUSG00000031393
Gene Name methyl CpG binding protein 2
Synonyms WBP10, D630021H01Rik, 1500041B07Rik, Mbd5
MMRRC Submission 039449-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.600) question?
Stock # R1387 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 73070198-73129296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73079394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 362 (P362S)
Ref Sequence ENSEMBL: ENSMUSP00000127115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033770] [ENSMUST00000100750] [ENSMUST00000123362] [ENSMUST00000140399] [ENSMUST00000170481]
AlphaFold Q9Z2D6
Predicted Effect unknown
Transcript: ENSMUST00000033770
AA Change: P379S
SMART Domains Protein: ENSMUSP00000033770
Gene: ENSMUSG00000031393
AA Change: P379S

DomainStartEndE-ValueType
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: P362S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098314
Gene: ENSMUSG00000031393
AA Change: P362S

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000123362
SMART Domains Protein: ENSMUSP00000118842
Gene: ENSMUSG00000031393

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000140399
SMART Domains Protein: ENSMUSP00000119947
Gene: ENSMUSG00000031393

DomainStartEndE-ValueType
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: P362S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127115
Gene: ENSMUSG00000031393
AA Change: P362S

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.4%
Validation Efficiency 99% (82/83)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik T A 9: 98,068,812 (GRCm39) noncoding transcript Het
4930447C04Rik C A 12: 72,962,208 (GRCm39) R52L probably benign Het
Abca13 C T 11: 9,632,085 (GRCm39) Q5002* probably null Het
Acacb T C 5: 114,338,573 (GRCm39) I761T probably benign Het
Acap3 G T 4: 155,983,937 (GRCm39) L134F probably benign Het
Adamtsl1 T C 4: 86,293,230 (GRCm39) probably benign Het
Adgrv1 A G 13: 81,641,295 (GRCm39) V3278A possibly damaging Het
Agxt2 T C 15: 10,380,696 (GRCm39) Y196H probably damaging Het
Akap13 T C 7: 75,235,941 (GRCm39) V172A probably damaging Het
Aqp8 A G 7: 123,065,891 (GRCm39) I229V probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brd10 A G 19: 29,700,853 (GRCm39) I812T probably benign Het
Cacng8 T C 7: 3,463,672 (GRCm39) S275P possibly damaging Het
Catsperg1 T C 7: 28,906,289 (GRCm39) Y138C probably damaging Het
Ccdc93 T G 1: 121,418,918 (GRCm39) L491R probably damaging Het
Cntnap2 T C 6: 47,084,848 (GRCm39) V1103A probably benign Het
Col12a1 C T 9: 79,588,657 (GRCm39) probably benign Het
Col6a3 A G 1: 90,750,138 (GRCm39) probably benign Het
Csf2rb2 C T 15: 78,182,414 (GRCm39) A6T probably damaging Het
Cyp2j5 T A 4: 96,522,522 (GRCm39) S351C probably damaging Het
Cyth1 A G 11: 118,073,172 (GRCm39) probably benign Het
Dock2 A G 11: 34,223,309 (GRCm39) probably benign Het
Duoxa1 T A 2: 122,134,468 (GRCm39) I262F possibly damaging Het
Dync2h1 T C 9: 7,125,816 (GRCm39) D1930G probably benign Het
Eeig1 T C 2: 32,455,635 (GRCm39) S254P possibly damaging Het
Eno1 C T 4: 150,332,590 (GRCm39) probably benign Het
Fam98a T A 17: 75,845,264 (GRCm39) H494L unknown Het
Fcamr C A 1: 130,732,379 (GRCm39) T122K possibly damaging Het
Foxq1 A G 13: 31,743,288 (GRCm39) D130G probably damaging Het
Glb1 T A 9: 114,249,431 (GRCm39) W5R probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gm5431 T A 11: 48,785,842 (GRCm39) R178W possibly damaging Het
Gys2 C T 6: 142,407,009 (GRCm39) V116M probably benign Het
Hif1a C T 12: 73,989,066 (GRCm39) T651I possibly damaging Het
Itgb5 T A 16: 33,720,885 (GRCm39) Y3* probably null Het
Kank3 A G 17: 34,035,205 (GRCm39) N7S possibly damaging Het
Kdm2b G T 5: 123,018,331 (GRCm39) H981Q probably damaging Het
Kdm6a C T X: 18,120,235 (GRCm39) probably benign Het
Kif1a A T 1: 92,983,672 (GRCm39) probably benign Het
Knl1 T A 2: 118,901,211 (GRCm39) S971T possibly damaging Het
Lcn6 T C 2: 25,567,149 (GRCm39) V50A possibly damaging Het
Llgl2 G T 11: 115,743,958 (GRCm39) V762F probably damaging Het
Lpcat4 T C 2: 112,075,021 (GRCm39) F342L probably benign Het
Lrp2 C A 2: 69,287,262 (GRCm39) G3725V probably damaging Het
Map1b T C 13: 99,569,158 (GRCm39) T1188A unknown Het
Mideas C A 12: 84,199,705 (GRCm39) R1005L probably damaging Het
Mmp13 T A 9: 7,282,033 (GRCm39) F445Y possibly damaging Het
Myo5b G T 18: 74,777,272 (GRCm39) probably benign Het
Myo7b A G 18: 32,116,805 (GRCm39) probably benign Het
Nadk2 C A 15: 9,106,870 (GRCm39) L384I possibly damaging Het
Napg A G 18: 63,119,283 (GRCm39) I98V possibly damaging Het
Ncoa1 G T 12: 4,324,790 (GRCm39) N1041K probably benign Het
Nmu A T 5: 76,497,992 (GRCm39) C64* probably null Het
Nobox T A 6: 43,284,132 (GRCm39) K13M probably damaging Het
Nos1 T C 5: 118,091,848 (GRCm39) probably benign Het
Nrg2 A G 18: 36,329,792 (GRCm39) V141A probably damaging Het
Or1b1 T G 2: 36,994,880 (GRCm39) I261L probably benign Het
Or2aj5 T C 16: 19,424,777 (GRCm39) I214V probably damaging Het
Or55b4 T A 7: 102,133,911 (GRCm39) I139L probably benign Het
Phldb2 C T 16: 45,646,357 (GRCm39) E71K possibly damaging Het
Pik3r4 T A 9: 105,521,490 (GRCm39) Y19N probably damaging Het
Pkhd1 A C 1: 20,625,447 (GRCm39) probably benign Het
Pogk G T 1: 166,227,707 (GRCm39) P148Q possibly damaging Het
Pten G T 19: 32,775,496 (GRCm39) A79S probably benign Het
Ptpdc1 A T 13: 48,739,796 (GRCm39) V545E possibly damaging Het
Qdpr G C 5: 45,607,480 (GRCm39) probably benign Het
Rhbdd3 T A 11: 5,054,121 (GRCm39) H83Q probably damaging Het
Rnf6 A G 5: 146,148,055 (GRCm39) V321A probably benign Het
Rtf1 T A 2: 119,536,126 (GRCm39) probably null Het
Serpina10 C T 12: 103,594,500 (GRCm39) V240I probably benign Het
Siah2 A G 3: 58,598,935 (GRCm39) V101A possibly damaging Het
Taok3 A G 5: 117,344,720 (GRCm39) K46R probably damaging Het
Tcaf2 A C 6: 42,601,512 (GRCm39) L849R probably damaging Het
Upf3a T C 8: 13,842,118 (GRCm39) F178S probably damaging Het
Vmn1r218 G A 13: 23,321,478 (GRCm39) G195D probably damaging Het
Vmn2r59 A G 7: 41,695,521 (GRCm39) V297A probably damaging Het
Vmn2r70 T A 7: 85,207,969 (GRCm39) Q836L probably benign Het
Zfp473 A G 7: 44,382,365 (GRCm39) V655A probably benign Het
Zic5 A G 14: 122,696,897 (GRCm39) S573P unknown Het
Other mutations in Mecp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Mecp2 APN X 73,079,447 (GRCm39) missense possibly damaging 0.53
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
R1894: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'- GAAACAATGTCTTTGCGCTCTCCC -3'
(R):5'- GAGACTGTGCTCCCCATCAAGAAG -3'

Sequencing Primer
(F):5'- AGCCATCGCTTTCCAGTGAG -3'
(R):5'- TCAAGAAGCGCAAGACCCG -3'
Posted On 2014-03-17