Incidental Mutation 'R2137:Mbd3l2'
ID 235886
Institutional Source Beutler Lab
Gene Symbol Mbd3l2
Ensembl Gene ENSMUSG00000047508
Gene Name methyl-CpG binding domain protein 3-like 2
Synonyms
MMRRC Submission 040140-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2137 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 18341950-18357612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18356254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 193 (D193V)
Ref Sequence ENSEMBL: ENSMUSP00000149130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051008] [ENSMUST00000213777]
AlphaFold Q3UXB0
Predicted Effect probably damaging
Transcript: ENSMUST00000051008
AA Change: D193V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054515
Gene: ENSMUSG00000047508
AA Change: D193V

DomainStartEndE-ValueType
Pfam:MBDa 28 102 5.5e-28 PFAM
Pfam:MBD_C 105 212 2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213777
AA Change: D193V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6224 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (60/62)
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 C T 10: 81,482,143 (GRCm39) T88I probably damaging Het
Atm A T 9: 53,364,675 (GRCm39) V49D probably damaging Het
Bub1b G T 2: 118,467,199 (GRCm39) E841* probably null Het
Cdh20 A T 1: 110,027,836 (GRCm39) N527I probably damaging Het
Cdh22 G A 2: 164,958,314 (GRCm39) probably benign Het
Cog1 T C 11: 113,550,127 (GRCm39) L262P probably damaging Het
Col22a1 T C 15: 71,878,797 (GRCm39) H120R possibly damaging Het
Col4a2 T C 8: 11,483,749 (GRCm39) S890P probably benign Het
Cubn T C 2: 13,340,978 (GRCm39) I2248V probably benign Het
Evpl T C 11: 116,112,665 (GRCm39) E1675G probably damaging Het
Faiml G A 9: 99,114,545 (GRCm39) P115S probably benign Het
Fgg A T 3: 82,915,745 (GRCm39) D62V possibly damaging Het
Gak C T 5: 108,754,743 (GRCm39) probably null Het
Galntl6 C T 8: 58,988,939 (GRCm39) probably null Het
Glyr1 T C 16: 4,836,346 (GRCm39) Y501C probably benign Het
Gm9847 G T 12: 14,545,082 (GRCm39) noncoding transcript Het
Gria4 T G 9: 4,427,026 (GRCm39) probably benign Het
Il36b A G 2: 24,044,672 (GRCm39) N24S probably benign Het
Il6st C A 13: 112,639,392 (GRCm39) H606N possibly damaging Het
Itprid1 A G 6: 55,866,174 (GRCm39) Q189R probably damaging Het
Kctd10 A G 5: 114,505,389 (GRCm39) F202L probably damaging Het
Kif17 T A 4: 137,989,978 (GRCm39) D55E probably damaging Het
Klf1 C T 8: 85,629,775 (GRCm39) A200V possibly damaging Het
Klhl32 A T 4: 24,629,275 (GRCm39) Y497* probably null Het
Kng2 G T 16: 22,816,076 (GRCm39) probably benign Het
Lats1 T C 10: 7,577,611 (GRCm39) V245A possibly damaging Het
Ms4a18 A T 19: 10,974,695 (GRCm39) V332D possibly damaging Het
Mss51 T C 14: 20,537,591 (GRCm39) I47V probably benign Het
Myoz2 G A 3: 122,827,861 (GRCm39) T19M probably benign Het
Nampt T A 12: 32,880,309 (GRCm39) N67K probably benign Het
Ncor2 A T 5: 125,107,776 (GRCm39) I1607K probably damaging Het
Nudt4 T C 10: 95,399,600 (GRCm39) Q7R probably damaging Het
Or5b119 A G 19: 13,457,173 (GRCm39) Y130H probably damaging Het
Or5b121 T A 19: 13,507,802 (GRCm39) I255N probably damaging Het
Or8b12i T A 9: 20,082,463 (GRCm39) I135F probably damaging Het
Pgm2 A T 5: 64,273,709 (GRCm39) M565L probably benign Het
Phactr1 T G 13: 43,288,651 (GRCm39) F639V possibly damaging Het
Plod3 C A 5: 137,017,571 (GRCm39) R165S probably damaging Het
Polr2b T A 5: 77,468,193 (GRCm39) N164K probably benign Het
Rcbtb2 G A 14: 73,399,491 (GRCm39) G52S probably damaging Het
Rfc1 A G 5: 65,468,382 (GRCm39) probably null Het
Rheb A G 5: 25,012,601 (GRCm39) probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Ripor2 G A 13: 24,905,817 (GRCm39) probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scg3 A T 9: 75,584,092 (GRCm39) D136E probably damaging Het
Slc10a4 C T 5: 73,164,923 (GRCm39) L172F probably damaging Het
Slc35c2 A G 2: 165,123,299 (GRCm39) Y113H probably damaging Het
Slc47a1 T A 11: 61,235,318 (GRCm39) D505V probably benign Het
Snap29 C A 16: 17,246,113 (GRCm39) D244E possibly damaging Het
Taar1 T C 10: 23,797,168 (GRCm39) F289L probably benign Het
Thbs2 T A 17: 14,893,568 (GRCm39) N871Y probably damaging Het
Tmem108 T A 9: 103,377,162 (GRCm39) T96S possibly damaging Het
Tnk2 G T 16: 32,489,620 (GRCm39) probably null Het
Trak1 T A 9: 121,302,028 (GRCm39) M928K possibly damaging Het
Tuba3b A G 6: 145,564,559 (GRCm39) I110V probably benign Het
Tyk2 A G 9: 21,022,281 (GRCm39) probably benign Het
Ugt1a9 T A 1: 87,998,759 (GRCm39) C70S probably benign Het
Vmn2r10 A T 5: 109,151,410 (GRCm39) I68K possibly damaging Het
Wfs1 T C 5: 37,124,845 (GRCm39) E682G probably damaging Het
Zfp213 T C 17: 23,778,481 (GRCm39) probably null Het
Zfp809 T C 9: 22,146,434 (GRCm39) V41A probably benign Het
Zfp831 A G 2: 174,547,539 (GRCm39) K1574R possibly 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
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'- AAGGGTCAGCTTACTCCTGG -3'
(R):5'- CTCACCAAAAGGATGTTTCCAC -3'

Sequencing Primer
(F):5'- GTCAGCTTACTCCTGGAGAAGTTAC -3'
(R):5'- GTTCTAGGACAACCAGGGTTACATC -3'
Posted On 2014-10-01