Incidental Mutation 'R1389:Nars2'
ID 162532
Institutional Source Beutler Lab
Gene Symbol Nars2
Ensembl Gene ENSMUSG00000018995
Gene Name asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)
Synonyms
MMRRC Submission 039451-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1389 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 96600712-96713965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96652036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 209 (S209N)
Ref Sequence ENSEMBL: ENSMUSP00000102777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044466] [ENSMUST00000107159]
AlphaFold Q8BGV0
Predicted Effect probably benign
Transcript: ENSMUST00000044466
AA Change: S209N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
AA Change: S209N

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:tRNA_anti-codon 44 118 2.4e-12 PFAM
Pfam:tRNA-synt_2 135 472 1.4e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107159
AA Change: S209N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
AA Change: S209N

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:tRNA_anti-codon 44 118 7.6e-14 PFAM
Pfam:tRNA-synt_2 135 390 5.4e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149204
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,476,460 (GRCm39) T914A possibly damaging Het
Acsl3 A C 1: 78,665,999 (GRCm39) I142L probably benign Het
Adgra2 C T 8: 27,601,116 (GRCm39) P252L probably damaging Het
Akap6 A G 12: 53,186,303 (GRCm39) E1239G probably benign Het
Arhgef17 TGGAGGAGGAGGAGGAGG TGGAGGAGGAGGAGG 7: 100,580,244 (GRCm39) probably benign Het
Calml4 A T 9: 62,778,548 (GRCm39) D12V probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccar2 C A 14: 70,377,558 (GRCm39) V699L possibly damaging Het
Ccdc27 T C 4: 154,126,226 (GRCm39) M88V unknown Het
Ceacam15 T C 7: 16,405,988 (GRCm39) R188G probably damaging Het
Dcaf8 G A 1: 172,001,619 (GRCm39) R272H probably benign Het
Dchs1 A G 7: 105,404,778 (GRCm39) V2588A probably benign Het
Dst G A 1: 34,250,313 (GRCm39) R1749H probably damaging Het
Exog A G 9: 119,291,572 (GRCm39) Q283R probably benign Het
Fmnl1 A T 11: 103,077,535 (GRCm39) probably null Het
Gramd1c T C 16: 43,811,085 (GRCm39) D213G probably damaging Het
Iqgap1 A G 7: 80,409,504 (GRCm39) probably null Het
Itgae A G 11: 73,016,188 (GRCm39) Y799C probably damaging Het
Kalrn T C 16: 33,809,173 (GRCm39) I903V probably benign Het
Kcnh1 A G 1: 192,188,071 (GRCm39) E844G probably benign Het
Khdc1a A T 1: 21,420,251 (GRCm39) D3V probably damaging Het
Ly6g T C 15: 75,028,615 (GRCm39) F25S probably benign Het
Mapk1ip1 G A 7: 138,438,456 (GRCm39) probably benign Het
Mfsd3 A G 15: 76,586,889 (GRCm39) H243R probably benign Het
Mms22l T A 4: 24,591,076 (GRCm39) Y1016N probably damaging Het
Mrgprb5 A T 7: 47,818,078 (GRCm39) V219E probably damaging Het
Nckap5 T C 1: 125,954,447 (GRCm39) T702A probably damaging Het
Or1e26 T C 11: 73,480,369 (GRCm39) N65S possibly damaging Het
Paf1 A G 7: 28,098,257 (GRCm39) probably benign Het
Prl3d1 A T 13: 27,282,693 (GRCm39) R145* probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rnf13 T A 3: 57,686,917 (GRCm39) N103K probably damaging Het
Senp1 T C 15: 97,973,734 (GRCm39) S170G probably benign Het
Slc46a2 A G 4: 59,914,620 (GRCm39) L101P probably damaging Het
Tmem123 C T 9: 7,791,107 (GRCm39) T136M probably damaging Het
Tpo T A 12: 30,153,109 (GRCm39) H415L probably damaging Het
Vipr2 A G 12: 116,100,950 (GRCm39) I255V probably benign Het
Zc3h11a A T 1: 133,561,541 (GRCm39) V310E probably damaging Het
Zfp3 T A 11: 70,663,462 (GRCm39) C474S probably damaging Het
Zfp707 T A 15: 75,846,465 (GRCm39) C99S probably damaging Het
Zranb1 C T 7: 132,573,062 (GRCm39) P410S probably damaging Het
Zswim8 G T 14: 20,760,816 (GRCm39) R30L probably damaging Het
Other mutations in Nars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Nars2 APN 7 96,680,787 (GRCm39) missense probably benign 0.40
IGL00796:Nars2 APN 7 96,680,786 (GRCm39) missense probably benign 0.00
IGL00990:Nars2 APN 7 96,651,997 (GRCm39) splice site probably benign
IGL02954:Nars2 APN 7 96,689,100 (GRCm39) splice site probably null
IGL03256:Nars2 APN 7 96,689,117 (GRCm39) missense possibly damaging 0.67
IGL03394:Nars2 APN 7 96,689,220 (GRCm39) missense possibly damaging 0.94
R0600:Nars2 UTSW 7 96,689,130 (GRCm39) missense probably damaging 1.00
R0943:Nars2 UTSW 7 96,605,138 (GRCm39) splice site probably benign
R4076:Nars2 UTSW 7 96,607,301 (GRCm39) missense probably damaging 0.99
R4397:Nars2 UTSW 7 96,622,771 (GRCm39) critical splice donor site probably null
R4758:Nars2 UTSW 7 96,622,735 (GRCm39) missense probably damaging 1.00
R4771:Nars2 UTSW 7 96,684,452 (GRCm39) missense probably damaging 1.00
R4908:Nars2 UTSW 7 96,672,948 (GRCm39) missense probably benign 0.07
R5162:Nars2 UTSW 7 96,709,027 (GRCm39) utr 3 prime probably benign
R6209:Nars2 UTSW 7 96,706,728 (GRCm39) missense probably benign 0.00
R7464:Nars2 UTSW 7 96,689,137 (GRCm39) missense probably benign 0.40
R7979:Nars2 UTSW 7 96,711,868 (GRCm39) missense probably damaging 1.00
R8284:Nars2 UTSW 7 96,600,845 (GRCm39) utr 5 prime probably benign
R8885:Nars2 UTSW 7 96,652,095 (GRCm39) missense probably damaging 0.98
R9614:Nars2 UTSW 7 96,689,125 (GRCm39) missense probably damaging 0.99
R9658:Nars2 UTSW 7 96,689,178 (GRCm39) missense probably benign 0.00
Z1176:Nars2 UTSW 7 96,601,104 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GGCTGTCAGAACTGTCTACACAGGTAT -3'
(R):5'- AAGATTGCAACGTCACACTTTGCTTT -3'

Sequencing Primer
(F):5'- CTGTTTTAGGCGTATGAACTCC -3'
(R):5'- accactgagccatctttcc -3'
Posted On 2014-03-17