Incidental Mutation 'R1863:Mbd3l2'
ID 204122
Institutional Source Beutler Lab
Gene Symbol Mbd3l2
Ensembl Gene ENSMUSG00000047508
Gene Name methyl-CpG binding domain protein 3-like 2
Synonyms
MMRRC Submission 039886-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1863 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 18341950-18357612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18356217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 181 (S181P)
Ref Sequence ENSEMBL: ENSMUSP00000149130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051008] [ENSMUST00000213777]
AlphaFold Q3UXB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000051008
AA Change: S181P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054515
Gene: ENSMUSG00000047508
AA Change: S181P

DomainStartEndE-ValueType
Pfam:MBDa 28 102 5.5e-28 PFAM
Pfam:MBD_C 105 212 2e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213777
AA Change: S181P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.0%
  • 20x: 90.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,527,746 (GRCm39) S1015T probably damaging Het
Adamts10 T A 17: 33,770,406 (GRCm39) probably null Het
Adgrv1 G A 13: 81,711,685 (GRCm39) T1097I probably damaging Het
Apeh T C 9: 107,969,302 (GRCm39) Y274C possibly damaging Het
Apobec3 A G 15: 79,782,068 (GRCm39) D26G possibly damaging Het
Arg2 C T 12: 79,196,794 (GRCm39) Q172* probably null Het
Asb18 C T 1: 89,942,104 (GRCm39) V66I probably benign Het
Cacna1i G A 15: 80,243,132 (GRCm39) G430S probably damaging Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Cadps A G 14: 12,505,796 (GRCm38) V758A probably benign Het
Calhm3 A G 19: 47,140,539 (GRCm39) W185R probably damaging Het
Car5b T C X: 162,774,369 (GRCm39) D146G probably damaging Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Cd300lg T G 11: 101,932,430 (GRCm39) V5G probably damaging Het
Cd46 C A 1: 194,765,931 (GRCm39) G145C probably damaging Het
Chit1 T C 1: 134,078,988 (GRCm39) S433P probably damaging Het
Cntrl G A 2: 35,008,131 (GRCm39) E182K possibly damaging Het
Col6a5 T A 9: 105,817,400 (GRCm39) M304L unknown Het
Cplane1 A G 15: 8,258,077 (GRCm39) I2108V probably benign Het
Cpxm2 C T 7: 131,745,392 (GRCm39) probably null Het
Dbf4 G A 5: 8,447,375 (GRCm39) Q612* probably null Het
Dnah11 G C 12: 118,027,587 (GRCm39) Q1835E possibly damaging Het
Ehbp1l1 A T 19: 5,767,882 (GRCm39) N1140K probably benign Het
Eps8l1 C A 7: 4,468,359 (GRCm39) probably benign Het
Fbxl21 A T 13: 56,674,876 (GRCm39) I76L probably benign Het
Gcnt2 A T 13: 41,014,577 (GRCm39) K249N possibly damaging Het
Gm5819 A G 18: 8,694,179 (GRCm39) T35A probably benign Het
Gm8180 T C 14: 44,021,139 (GRCm39) E23G probably benign Het
Gorab A G 1: 163,231,131 (GRCm39) F8L probably damaging Het
Hlf A G 11: 90,231,652 (GRCm39) L274S probably damaging Het
Il15ra T A 2: 11,728,247 (GRCm39) S137T possibly damaging Het
Krt78 A T 15: 101,855,004 (GRCm39) C936S possibly damaging Het
Lamb2 T C 9: 108,358,583 (GRCm39) S207P probably benign Het
Lce1a1 T C 3: 92,554,118 (GRCm39) S119G unknown Het
Lipo3 A G 19: 33,762,092 (GRCm39) F135S probably damaging Het
Lrp4 T A 2: 91,328,708 (GRCm39) L1536Q probably benign Het
Lrrc25 T C 8: 71,070,596 (GRCm39) S126P possibly damaging Het
Msantd5f6 A T 4: 73,320,037 (GRCm39) Y247* probably null Het
Mss51 C T 14: 20,534,936 (GRCm39) R278H probably damaging Het
Myom3 G A 4: 135,505,348 (GRCm39) M412I probably benign Het
Naa25 T C 5: 121,573,611 (GRCm39) V780A probably benign Het
Naip6 A T 13: 100,437,067 (GRCm39) F485L probably benign Het
Notch1 T C 2: 26,359,962 (GRCm39) Y1251C probably damaging Het
Npas3 A G 12: 54,115,609 (GRCm39) N826D probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2t47 T C 11: 58,442,849 (GRCm39) Y72C probably benign Het
Or4a74 A T 2: 89,440,053 (GRCm39) L131* probably null Het
Or4c35 A T 2: 89,808,754 (GRCm39) I211F probably benign Het
Or5p57 A C 7: 107,665,932 (GRCm39) Y24* probably null Het
Or6c66 T C 10: 129,461,217 (GRCm39) T238A probably damaging Het
Or8c8 T G 9: 38,165,016 (GRCm39) M101R probably damaging Het
Or8s16 G T 15: 98,211,372 (GRCm39) Q20K probably benign Het
Osbpl6 G A 2: 76,415,402 (GRCm39) R588H probably damaging Het
Pcdhb17 A T 18: 37,619,164 (GRCm39) D318V probably benign Het
Pcnx2 T A 8: 126,545,525 (GRCm39) E1162V probably damaging Het
Pde2a G A 7: 101,160,361 (GRCm39) R845H probably damaging Het
Pkhd1 G T 1: 20,621,244 (GRCm39) R805S probably benign Het
Ppl T C 16: 4,905,844 (GRCm39) K1484E possibly damaging Het
Pramel7 T C 2: 87,321,675 (GRCm39) E120G probably benign Het
Prg4 T A 1: 150,336,420 (GRCm39) D60V probably damaging Het
Prpf6 T A 2: 181,249,967 (GRCm39) D42E possibly damaging Het
Rbm5 C T 9: 107,627,718 (GRCm39) V408I possibly damaging Het
Rsrp1 G T 4: 134,651,388 (GRCm39) D51Y unknown Het
Sec22a A G 16: 35,168,088 (GRCm39) M141T probably damaging Het
Spryd3 A G 15: 102,026,094 (GRCm39) S417P probably benign Het
Sptbn2 A G 19: 4,782,713 (GRCm39) M550V possibly damaging Het
Sugt1 C T 14: 79,846,434 (GRCm39) T157I probably damaging Het
Syne4 T C 7: 30,016,308 (GRCm39) V168A probably benign Het
Tas2r122 A T 6: 132,688,065 (GRCm39) L276* probably null Het
Tbc1d14 G A 5: 36,665,037 (GRCm39) S231F probably damaging Het
Tenm3 T A 8: 48,729,381 (GRCm39) I1526F probably benign Het
Tgm2 C T 2: 157,966,139 (GRCm39) C505Y probably damaging Het
Thop1 T C 10: 80,909,151 (GRCm39) Y61H probably damaging Het
Ticam1 G A 17: 56,578,436 (GRCm39) H220Y probably damaging Het
Tle6 T C 10: 81,427,755 (GRCm39) D500G possibly damaging Het
Tm6sf2 T A 8: 70,532,375 (GRCm39) L345Q probably damaging Het
Tnxb T C 17: 34,889,848 (GRCm39) C114R probably damaging Het
Topors G T 4: 40,262,149 (GRCm39) C378* probably null Het
Ttc6 G A 12: 57,760,881 (GRCm39) G1544R probably benign Het
Vmn2r4 A T 3: 64,314,410 (GRCm39) N190K probably benign Het
Wdr70 C A 15: 7,950,054 (GRCm39) V447F probably benign Het
Xpa A G 4: 46,155,730 (GRCm39) probably benign Het
Xrcc1 T C 7: 24,270,000 (GRCm39) S474P possibly damaging Het
Zfp658 T G 7: 43,223,323 (GRCm39) F533V possibly damaging Het
Zfp799 G A 17: 33,038,374 (GRCm39) H631Y probably damaging Het
Other mutations in Mbd3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1862:Mbd3l2 UTSW 9 18,356,217 (GRCm39) missense possibly damaging 0.93
R2137:Mbd3l2 UTSW 9 18,356,254 (GRCm39) missense probably damaging 1.00
R2138:Mbd3l2 UTSW 9 18,356,254 (GRCm39) missense probably damaging 1.00
R2139:Mbd3l2 UTSW 9 18,356,254 (GRCm39) missense probably damaging 1.00
R3853:Mbd3l2 UTSW 9 18,356,092 (GRCm39) missense probably benign 0.27
R4726:Mbd3l2 UTSW 9 18,356,256 (GRCm39) missense probably damaging 1.00
R6047:Mbd3l2 UTSW 9 18,356,212 (GRCm39) missense possibly damaging 0.79
R6864:Mbd3l2 UTSW 9 18,354,795 (GRCm39) splice site probably benign
R7302:Mbd3l2 UTSW 9 18,355,738 (GRCm39) missense probably benign 0.00
R8247:Mbd3l2 UTSW 9 18,356,299 (GRCm39) missense probably damaging 1.00
R8345:Mbd3l2 UTSW 9 18,355,779 (GRCm39) missense probably benign 0.00
R8898:Mbd3l2 UTSW 9 18,355,914 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GACCTGTCATGTCAATTGAAGC -3'
(R):5'- TCAAGAACTTACAGAGGCCTC -3'

Sequencing Primer
(F):5'- CCCTGTAGAAAGAATTGCACTG -3'
(R):5'- TTACAGAGGCCTCAACACTTG -3'
Posted On 2014-06-23