Incidental Mutation 'R5165:Ntmt2'
ID 395628
Institutional Source Beutler Lab
Gene Symbol Ntmt2
Ensembl Gene ENSMUSG00000040113
Gene Name N-terminal Xaa-Pro-Lys N-methyltransferase 2
Synonyms Mettl11b, LOC240879
MMRRC Submission 042746-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5165 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 163529825-163552801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163550092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 53 (I53T)
Ref Sequence ENSEMBL: ENSMUSP00000124700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159679] [ENSMUST00000160495]
AlphaFold B2RXM4
Predicted Effect probably benign
Transcript: ENSMUST00000159679
SMART Domains Protein: ENSMUSP00000124211
Gene: ENSMUSG00000040113

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 64 278 5.7e-74 PFAM
Pfam:Methyltransf_11 121 220 4.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160495
AA Change: I53T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 T A 6: 83,503,814 (GRCm39) I77F probably benign Het
Actl6a G A 3: 32,774,357 (GRCm39) V285I probably benign Het
Adam9 A T 8: 25,457,190 (GRCm39) I646N possibly damaging Het
Ahnak T C 19: 8,993,029 (GRCm39) I4771T possibly damaging Het
Alas1 T C 9: 106,118,454 (GRCm39) T223A probably damaging Het
Apc2 A G 10: 80,151,684 (GRCm39) E2246G probably damaging Het
Atp1a1 A G 3: 101,489,105 (GRCm39) I795T probably benign Het
Ccn3 A G 15: 54,612,585 (GRCm39) D198G probably damaging Het
Cdhr4 T C 9: 107,874,829 (GRCm39) L633P probably damaging Het
Cep350 A G 1: 155,804,114 (GRCm39) S990P probably damaging Het
Cplx2 A G 13: 54,526,789 (GRCm39) I66V possibly damaging Het
Cx3cl1 T C 8: 95,506,504 (GRCm39) S170P probably benign Het
Cyth1 T C 11: 118,059,908 (GRCm39) N353S possibly damaging Het
Dapp1 T C 3: 137,644,976 (GRCm39) probably null Het
Dmwd G A 7: 18,811,960 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,080 (GRCm39) H516R probably damaging Het
Efemp2 T C 19: 5,525,439 (GRCm39) C39R probably damaging Het
Fnbp4 C G 2: 90,608,001 (GRCm39) Q908E possibly damaging Het
Foxred2 A G 15: 77,840,212 (GRCm39) V26A probably damaging Het
Gkap1 A G 13: 58,411,010 (GRCm39) probably null Het
Gstcd A C 3: 132,790,440 (GRCm39) V109G probably damaging Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcnj9 A T 1: 172,150,724 (GRCm39) D296E probably benign Het
Kctd18 T C 1: 57,998,395 (GRCm39) Y68C probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Lrfn5 T C 12: 61,886,410 (GRCm39) I66T possibly damaging Het
Lrp12 A G 15: 39,735,857 (GRCm39) S692P probably benign Het
Lrrc10 A T 10: 116,881,965 (GRCm39) N213I probably benign Het
Nceh1 G A 3: 27,295,677 (GRCm39) V313I probably benign Het
Nkx6-3 T A 8: 23,643,759 (GRCm39) H53Q probably damaging Het
Or14j7 A G 17: 38,235,252 (GRCm39) D265G probably benign Het
Or2y16 A G 11: 49,335,203 (GRCm39) H175R probably damaging Het
Or4f53 T A 2: 111,087,568 (GRCm39) V36E possibly damaging Het
Or5b97 A T 19: 12,878,564 (GRCm39) N193K probably benign Het
Oxct1 A T 15: 4,083,251 (GRCm39) T157S possibly damaging Het
Pcdhga3 A G 18: 37,808,723 (GRCm39) E392G possibly damaging Het
Polr1a T G 6: 71,944,909 (GRCm39) Y1322D probably damaging Het
Prkdc T A 16: 15,496,136 (GRCm39) S776T probably damaging Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Sertad4 A T 1: 192,529,130 (GRCm39) S229T possibly damaging Het
Shank2 T A 7: 143,963,373 (GRCm39) V327D possibly damaging Het
Skint6 A T 4: 112,722,865 (GRCm39) V904E possibly damaging Het
Slfn8 A T 11: 82,907,953 (GRCm39) Y197N probably damaging Het
Smo T A 6: 29,736,077 (GRCm39) L23Q unknown Het
Snx29 T A 16: 11,238,639 (GRCm39) M23K probably damaging Het
Synrg T C 11: 83,881,761 (GRCm39) S366P probably benign Het
Tomm40 A G 7: 19,447,592 (GRCm39) probably null Het
Tpcn1 T C 5: 120,696,010 (GRCm39) E81G probably damaging Het
Trappc1 A G 11: 69,215,060 (GRCm39) Q26R probably benign Het
Ttn T A 2: 76,606,900 (GRCm39) probably null Het
Usp25 T A 16: 76,873,293 (GRCm39) D450E possibly damaging Het
Zmynd19 T A 2: 24,848,201 (GRCm39) Y132* probably null Het
Other mutations in Ntmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Ntmt2 APN 1 163,552,572 (GRCm39) missense probably damaging 1.00
IGL01973:Ntmt2 APN 1 163,544,689 (GRCm39) missense probably benign 0.00
IGL02418:Ntmt2 APN 1 163,530,725 (GRCm39) missense probably damaging 1.00
IGL02597:Ntmt2 APN 1 163,544,656 (GRCm39) missense probably benign 0.00
IGL03060:Ntmt2 APN 1 163,544,692 (GRCm39) missense probably damaging 1.00
IGL03162:Ntmt2 APN 1 163,530,783 (GRCm39) missense probably damaging 0.98
R4569:Ntmt2 UTSW 1 163,530,586 (GRCm39) makesense probably null
R4618:Ntmt2 UTSW 1 163,552,597 (GRCm39) missense probably damaging 1.00
R4888:Ntmt2 UTSW 1 163,530,633 (GRCm39) missense probably benign 0.11
R6353:Ntmt2 UTSW 1 163,531,680 (GRCm39) missense possibly damaging 0.94
R6503:Ntmt2 UTSW 1 163,531,715 (GRCm39) missense probably damaging 1.00
R7726:Ntmt2 UTSW 1 163,530,753 (GRCm39) missense probably benign 0.27
R8092:Ntmt2 UTSW 1 163,544,819 (GRCm39) missense probably damaging 1.00
R8374:Ntmt2 UTSW 1 163,530,617 (GRCm39) missense probably damaging 1.00
R8751:Ntmt2 UTSW 1 163,544,738 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGAACCATCTCTAAACAGCAATGG -3'
(R):5'- ATTCTGGTAATTCGGCCTGG -3'

Sequencing Primer
(F):5'- CCATCTCTAAACAGCAATGGATTTTC -3'
(R):5'- CTGGTAATTCGGCCTGGGTATTAG -3'
Posted On 2016-06-21