Incidental Mutation 'R4231:Nsun2'
ID 320871
Institutional Source Beutler Lab
Gene Symbol Nsun2
Ensembl Gene ENSMUSG00000021595
Gene Name NOL1/NOP2/Sun domain family member 2
Synonyms Misu
MMRRC Submission 041050-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R4231 (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 69767660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 205 (N205D)
Ref Sequence ENSEMBL: ENSMUSP00000135455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022087] [ENSMUST00000109699] [ENSMUST00000143716] [ENSMUST00000176485]
AlphaFold Q1HFZ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022087
AA Change: N174D

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595
AA Change: N174D

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 83 209 4.5e-19 PFAM
Pfam:Nol1_Nop2_Fmu 199 376 1.1e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109699
AA Change: N240D

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595
AA Change: N240D

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 169 428 3.2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136932
Predicted Effect probably benign
Transcript: ENSMUST00000143716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168625
Predicted Effect probably damaging
Transcript: ENSMUST00000176485
AA Change: N205D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595
AA Change: N205D

DomainStartEndE-ValueType
Pfam:Nol1_Nop2_Fmu 114 240 3.5e-19 PFAM
Pfam:Nol1_Nop2_Fmu 230 399 1.1e-23 PFAM
Meta Mutation Damage Score 0.9436 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 99% (75/76)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 A T 12: 53,187,821 (GRCm39) D1745V probably damaging Het
Aldh5a1 C T 13: 25,095,636 (GRCm39) G494R probably damaging Het
Ankar T C 1: 72,697,701 (GRCm39) D1034G probably benign Het
Aox3 T A 1: 58,154,044 (GRCm39) N23K probably benign Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Bltp1 C T 3: 36,974,385 (GRCm39) T663I probably benign Het
Cacnb2 A G 2: 14,986,251 (GRCm39) K343E probably damaging Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cd93 A T 2: 148,284,880 (GRCm39) H155Q probably benign Het
Cox6b2 T C 7: 4,755,834 (GRCm39) M1V probably null Het
Crat T C 2: 30,303,023 (GRCm39) E88G possibly damaging Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dip2a G A 10: 76,155,304 (GRCm39) P94S probably damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Filip1l T C 16: 57,327,131 (GRCm39) S54P probably benign Het
Gm12887 A T 4: 121,479,299 (GRCm39) M1K probably null Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Insyn2b A T 11: 34,353,143 (GRCm39) E395V probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Irak2 A G 6: 113,667,817 (GRCm39) E466G probably damaging Het
Irgm2 C T 11: 58,110,304 (GRCm39) probably benign Het
Jak3 T A 8: 72,138,189 (GRCm39) V880D probably damaging Het
Jmy G T 13: 93,635,433 (GRCm39) P128T probably benign Het
Kif20a A G 18: 34,765,091 (GRCm39) N775S probably benign Het
Kremen1 G A 11: 5,193,881 (GRCm39) Q50* probably null Het
Lrrc71 A G 3: 87,648,298 (GRCm39) I438T probably benign Het
Map3k1 T C 13: 111,905,028 (GRCm39) T374A probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mta1 T C 12: 113,099,447 (GRCm39) M603T possibly damaging Het
Myo5a A G 9: 75,097,279 (GRCm39) N1319S possibly damaging Het
Nalcn T A 14: 123,837,325 (GRCm39) Q13L probably benign Het
Nbas A G 12: 13,443,344 (GRCm39) N1133S probably damaging Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or4f17-ps1 C T 2: 111,358,546 (GRCm39) R314C probably damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A G 1: 97,811,849 (GRCm39) probably null Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Plxna2 C T 1: 194,326,762 (GRCm39) T232I probably damaging Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Ptprq A T 10: 107,522,144 (GRCm39) Y602* probably null Het
Rfx4 A T 10: 84,650,558 (GRCm39) M84L probably benign Het
Rfx7 A T 9: 72,526,672 (GRCm39) E1287D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf216 A T 5: 143,078,845 (GRCm39) S35T probably damaging Het
Rps6kc1 A G 1: 190,541,097 (GRCm39) V402A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sart3 A G 5: 113,909,479 (GRCm39) M73T probably benign Het
Scn10a G T 9: 119,460,610 (GRCm39) T1088K probably damaging Het
Senp2 T C 16: 21,830,304 (GRCm39) probably null Het
Setd7 T C 3: 51,450,151 (GRCm39) N92D probably benign Het
Sipa1 A T 19: 5,704,117 (GRCm39) L735Q probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slitrk6 A T 14: 110,988,820 (GRCm39) S296T probably benign Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Tex15 T C 8: 34,062,165 (GRCm39) S806P probably damaging Het
Tgm3 A T 2: 129,886,509 (GRCm39) K577* probably null Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Xpo6 T C 7: 125,773,354 (GRCm39) T24A possibly damaging Het
Zfhx2 A G 14: 55,310,991 (GRCm39) C568R possibly damaging Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null 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
R3691: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
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'- TGACGTCTTGCAGAGCTTTCC -3'
(R):5'- TAACCATGTGCACCATTGTGG -3'

Sequencing Primer
(F):5'- GCAGAGCTTTCCTCCTCAC -3'
(R):5'- TGGTCATGTGGTACTTCATTTAATC -3'
Posted On 2015-06-12