Incidental Mutation 'R3691:Nsun2'
ID 268794
Institutional Source Beutler Lab
Gene Symbol Nsun2
Ensembl Gene ENSMUSG00000021595
Gene Name NOL1/NOP2/Sun domain family member 2
Synonyms Misu
MMRRC Submission 040686-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R3691 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 69760135-69783899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69760456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 45 (N45D)
Ref Sequence ENSEMBL: ENSMUSP00000135455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022087] [ENSMUST00000091514] [ENSMUST00000109699] [ENSMUST00000143716] [ENSMUST00000176485]
AlphaFold Q1HFZ0
Predicted Effect probably benign
Transcript: ENSMUST00000022087
SMART Domains Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 83 209 4.5e-19 PFAM
Pfam:Nol1_Nop2_Fmu 199 376 1.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059235
Predicted Effect probably benign
Transcript: ENSMUST00000091514
SMART Domains Protein: ENSMUSP00000089097
Gene: ENSMUSG00000021594

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
transmembrane domain 83 102 N/A INTRINSIC
Pfam:DUF1295 104 242 4.6e-13 PFAM
Pfam:Steroid_dh 106 255 2.9e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109699
AA Change: N45D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595
AA Change: N45D

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 169 428 3.2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127854
Predicted Effect probably benign
Transcript: ENSMUST00000143716
Predicted Effect probably damaging
Transcript: ENSMUST00000176485
AA Change: N45D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595
AA Change: N45D

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 114 240 3.5e-19 PFAM
Pfam:Nol1_Nop2_Fmu 230 399 1.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168625
Meta Mutation Damage Score 0.5159 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (34/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous inactivation of this gene leads to decreased body size, male sterility, and hair cycle anomalies. Additional phenotypes may include reduced body fat, skeletal, craniofacial and eye defects, abnormal erythropoiesis, and altered energy expenditure and gas, glucose, and lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,108,671 (GRCm39) E1398G probably damaging Het
Avl9 C T 6: 56,713,812 (GRCm39) H357Y probably benign Het
Best2 A G 8: 85,737,883 (GRCm39) F171L probably benign Het
Btbd19 A T 4: 116,977,789 (GRCm39) probably benign Het
Cap1 A G 4: 122,758,419 (GRCm39) S254P probably damaging Het
Cfap43 G A 19: 47,885,512 (GRCm39) L368F probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cog3 T C 14: 75,991,878 (GRCm39) M1V probably null Het
Drosha G A 15: 12,834,724 (GRCm39) R276H unknown Het
Efr3b T A 12: 4,032,059 (GRCm39) D183V possibly damaging Het
Epha1 T C 6: 42,338,064 (GRCm39) T794A probably damaging Het
Fbxo17 G A 7: 28,436,887 (GRCm39) V281I probably damaging Het
Flii T C 11: 60,610,583 (GRCm39) Y571C probably benign Het
Flywch1 G A 17: 23,982,186 (GRCm39) P6L probably damaging Het
Foxj3 T C 4: 119,473,839 (GRCm39) probably benign Het
Fras1 C T 5: 96,929,371 (GRCm39) T3925I probably benign Het
Gk5 T C 9: 96,011,149 (GRCm39) probably null Het
Gm12588 T G 11: 121,796,751 (GRCm39) Q366P possibly damaging Het
Gm3248 A G 14: 5,943,068 (GRCm38) I161T probably damaging Het
Gzmg T A 14: 56,395,134 (GRCm39) probably benign Het
Lrrc69 A T 4: 14,795,980 (GRCm39) N22K possibly damaging Het
Med13l A G 5: 118,859,562 (GRCm39) R250G probably benign Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mxi1 T C 19: 53,358,062 (GRCm39) L73P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Napb T C 2: 148,544,977 (GRCm39) probably null Het
Or10ag2 T C 2: 87,248,514 (GRCm39) F39L probably benign Het
Oxct1 A G 15: 4,076,999 (GRCm39) M111V probably benign Het
Pcnx4 A G 12: 72,620,493 (GRCm39) D771G probably damaging Het
Serpina6 T C 12: 103,620,668 (GRCm39) D27G probably benign Het
Tecpr1 A G 5: 144,146,797 (GRCm39) F523S probably benign Het
Zan A G 5: 137,418,281 (GRCm39) I2939T unknown Het
Zfc3h1 A G 10: 115,256,595 (GRCm39) T1522A probably benign Het
Other mutations in Nsun2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Nsun2 APN 13 69,771,368 (GRCm39) missense probably benign 0.01
IGL01997:Nsun2 APN 13 69,771,365 (GRCm39) missense probably damaging 1.00
IGL02253:Nsun2 APN 13 69,767,658 (GRCm39) missense possibly damaging 0.88
IGL03038:Nsun2 APN 13 69,767,703 (GRCm39) missense probably damaging 1.00
IGL02984:Nsun2 UTSW 13 69,691,727 (GRCm39) intron probably benign
PIT4494001:Nsun2 UTSW 13 69,766,311 (GRCm39) critical splice donor site probably null
R0601:Nsun2 UTSW 13 69,781,361 (GRCm39) missense probably benign 0.40
R0648:Nsun2 UTSW 13 69,775,706 (GRCm39) missense probably damaging 1.00
R0690:Nsun2 UTSW 13 69,777,661 (GRCm39) missense probably benign
R0718:Nsun2 UTSW 13 69,691,816 (GRCm39) intron probably benign
R1501:Nsun2 UTSW 13 69,779,706 (GRCm39) missense probably damaging 1.00
R1638:Nsun2 UTSW 13 69,775,705 (GRCm39) missense probably damaging 1.00
R1678:Nsun2 UTSW 13 69,775,222 (GRCm39) missense probably damaging 1.00
R1687:Nsun2 UTSW 13 69,775,716 (GRCm39) missense probably damaging 1.00
R2327:Nsun2 UTSW 13 69,767,700 (GRCm39) missense probably benign 0.44
R2872:Nsun2 UTSW 13 69,777,801 (GRCm39) missense probably damaging 1.00
R2872:Nsun2 UTSW 13 69,777,801 (GRCm39) missense probably damaging 1.00
R3689:Nsun2 UTSW 13 69,760,456 (GRCm39) missense probably damaging 1.00
R3739:Nsun2 UTSW 13 69,777,757 (GRCm39) missense probably benign
R3918:Nsun2 UTSW 13 69,778,799 (GRCm39) missense probably damaging 1.00
R4065:Nsun2 UTSW 13 69,760,579 (GRCm39) critical splice donor site probably null
R4231:Nsun2 UTSW 13 69,767,660 (GRCm39) missense probably damaging 1.00
R4445:Nsun2 UTSW 13 69,777,840 (GRCm39) splice site probably null
R4872:Nsun2 UTSW 13 69,691,992 (GRCm39) intron probably benign
R5641:Nsun2 UTSW 13 69,771,368 (GRCm39) missense probably benign 0.01
R5718:Nsun2 UTSW 13 69,771,403 (GRCm39) missense probably benign 0.19
R5976:Nsun2 UTSW 13 69,771,271 (GRCm39) splice site probably null
R6110:Nsun2 UTSW 13 69,775,767 (GRCm39) missense probably benign 0.01
R6943:Nsun2 UTSW 13 69,778,152 (GRCm39) missense probably damaging 1.00
R6968:Nsun2 UTSW 13 69,779,409 (GRCm39) missense probably benign 0.00
R7146:Nsun2 UTSW 13 69,774,672 (GRCm39) critical splice donor site probably null
R7456:Nsun2 UTSW 13 69,781,725 (GRCm39) missense probably damaging 0.98
R8017:Nsun2 UTSW 13 69,775,764 (GRCm39) missense probably damaging 0.99
R8019:Nsun2 UTSW 13 69,775,764 (GRCm39) missense probably damaging 0.99
R8225:Nsun2 UTSW 13 69,760,493 (GRCm39) missense possibly damaging 0.93
R8935:Nsun2 UTSW 13 69,767,586 (GRCm39) missense probably damaging 1.00
X0064:Nsun2 UTSW 13 69,763,638 (GRCm39) critical splice donor site probably null
Z1088:Nsun2 UTSW 13 69,763,584 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGACGGGGAGATTCACGC -3'
(R):5'- TCTAATGTCCCACCGAGGAC -3'

Sequencing Primer
(F):5'- TGAGGAAACACGTTCTCTATAGG -3'
(R):5'- GGACGTTCCTGTGCACTAC -3'
Posted On 2015-02-19