Incidental Mutation 'R6047:Mbd3l2'
ID 483342
Institutional Source Beutler Lab
Gene Symbol Mbd3l2
Ensembl Gene ENSMUSG00000047508
Gene Name methyl-CpG binding domain protein 3-like 2
Synonyms
MMRRC Submission 044215-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6047 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 18341950-18357612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18356212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 179 (H179L)
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: H179L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054515
Gene: ENSMUSG00000047508
AA Change: H179L

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: H179L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (36/36)
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,856,066 (GRCm39) I58T probably damaging Het
Adgrb2 G T 4: 129,912,498 (GRCm39) G1208C probably damaging Het
Antxrl T C 14: 33,775,433 (GRCm39) probably benign Het
Appl2 C T 10: 83,448,765 (GRCm39) probably null Het
Bloc1s2 T C 19: 44,130,629 (GRCm39) I112V possibly damaging Het
Cblb G T 16: 51,932,611 (GRCm39) probably null Het
Cdk9 T C 2: 32,598,285 (GRCm39) probably null Het
Dok7 G A 5: 35,236,651 (GRCm39) G206D probably damaging Het
Ftsj3 C T 11: 106,143,144 (GRCm39) R390H probably damaging Het
Gpr179 G T 11: 97,229,242 (GRCm39) P971Q probably damaging Het
Hic1 A T 11: 75,057,675 (GRCm39) S405T possibly damaging Het
Ifngr1 T C 10: 19,482,061 (GRCm39) L217P probably damaging Het
Insrr A G 3: 87,711,483 (GRCm39) K468E probably damaging Het
Lce1j G C 3: 92,696,503 (GRCm39) R92G unknown Het
Lrp12 T C 15: 39,735,463 (GRCm39) E823G probably damaging Het
Lrp1b A G 2: 40,527,787 (GRCm39) I98T probably benign Het
Med24 A T 11: 98,598,591 (GRCm39) C691* probably null Het
Mical1 T C 10: 41,357,703 (GRCm39) probably null Het
Msantd2 A T 9: 37,434,738 (GRCm39) Y326F probably damaging Het
Nfyc T A 4: 120,636,314 (GRCm39) probably null Het
Nrg3 T A 14: 38,119,309 (GRCm39) probably null Het
Nt5c3 G A 6: 56,859,964 (GRCm39) S291L probably damaging Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pdia5 T C 16: 35,217,848 (GRCm39) K512E probably damaging Het
Pfpl T C 19: 12,406,597 (GRCm39) F283L probably damaging Het
Pick1 A G 15: 79,139,895 (GRCm39) probably benign Het
Pkd1 T C 17: 24,814,059 (GRCm39) V4143A probably damaging Het
Ptprc C T 1: 138,028,779 (GRCm39) probably null Het
Scn10a A G 9: 119,451,897 (GRCm39) F1342S probably benign Het
Slc17a7 A T 7: 44,822,830 (GRCm39) I436F probably benign Het
Slc34a1 G T 13: 55,559,884 (GRCm39) A403S probably damaging Het
Stmn3 A T 2: 180,950,952 (GRCm39) Y35N possibly damaging Het
Tldc2 A G 2: 156,938,382 (GRCm39) E207G probably damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Uty G T Y: 1,158,288 (GRCm39) P538Q probably damaging Het
Zzef1 A G 11: 72,756,921 (GRCm39) D1142G probably damaging Het
Other mutations in Mbd3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1862:Mbd3l2 UTSW 9 18,356,217 (GRCm39) missense possibly damaging 0.93
R1863: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
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 2017-07-14