Incidental Mutation 'IGL00796:Nars2'
ID 12238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nars2
Ensembl Gene ENSMUSG00000018995
Gene Name asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00796
Quality Score
Status
Chromosome 7
Chromosomal Location 96951505-97064758 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97031580 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 319 (L319Q)
Ref Sequence ENSEMBL: ENSMUSP00000044937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044466] [ENSMUST00000107159]
AlphaFold Q8BGV0
Predicted Effect probably benign
Transcript: ENSMUST00000044466
AA Change: L319Q

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
AA Change: L319Q

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: L319Q

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
AA Change: L319Q

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 silent
Transcript: ENSMUST00000122835
Coding Region Coverage
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh5 A G 3: 138,450,981 T143A probably benign Het
Alk T A 17: 71,905,142 N802I possibly damaging Het
Aspn A G 13: 49,557,417 I179M probably damaging Het
Bptf A G 11: 107,054,550 L2506P probably damaging Het
Cacna1f T A X: 7,631,031 D1594E probably damaging Het
Chd7 T A 4: 8,847,271 N1671K possibly damaging Het
Dnah7b T C 1: 46,211,337 V1706A probably damaging Het
Elmo2 A T 2: 165,292,014 probably benign Het
Ercc6 T C 14: 32,570,002 S1108P probably benign Het
Fam53a A T 5: 33,600,827 D317E probably benign Het
Gria2 T C 3: 80,710,790 N313D probably benign Het
Itch A T 2: 155,209,082 H563L probably damaging Het
Kdm1a G A 4: 136,554,247 A651V probably damaging Het
Myb T G 10: 21,141,799 Q631P probably benign Het
Myh9 A T 15: 77,796,995 probably benign Het
Pdcl2 G A 5: 76,319,175 T57I probably damaging Het
Pde6g T A 11: 120,450,564 I17L probably benign Het
Ppp1r9a T A 6: 5,157,014 M964K probably benign Het
Ssxb2 A G X: 8,458,220 probably benign Het
Tonsl T C 15: 76,625,149 T8A probably benign Het
Zdbf2 T C 1: 63,307,205 M1581T probably benign Het
Other mutations in Nars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Nars2 APN 7 97031579 missense probably benign 0.00
IGL00990:Nars2 APN 7 97002790 splice site probably benign
IGL02954:Nars2 APN 7 97039893 splice site probably null
IGL03256:Nars2 APN 7 97039910 missense possibly damaging 0.67
IGL03394:Nars2 APN 7 97040013 missense possibly damaging 0.94
R0600:Nars2 UTSW 7 97039923 missense probably damaging 1.00
R0943:Nars2 UTSW 7 96955931 splice site probably benign
R1389:Nars2 UTSW 7 97002829 missense probably benign
R4076:Nars2 UTSW 7 96958094 missense probably damaging 0.99
R4397:Nars2 UTSW 7 96973564 critical splice donor site probably null
R4758:Nars2 UTSW 7 96973528 missense probably damaging 1.00
R4771:Nars2 UTSW 7 97035245 missense probably damaging 1.00
R4908:Nars2 UTSW 7 97023741 missense probably benign 0.07
R5162:Nars2 UTSW 7 97059820 utr 3 prime probably benign
R6209:Nars2 UTSW 7 97057521 missense probably benign 0.00
R7464:Nars2 UTSW 7 97039930 missense probably benign 0.40
R7979:Nars2 UTSW 7 97062661 missense probably damaging 1.00
R8284:Nars2 UTSW 7 96951638 utr 5 prime probably benign
R8885:Nars2 UTSW 7 97002888 missense probably damaging 0.98
R9614:Nars2 UTSW 7 97039918 missense probably damaging 0.99
R9658:Nars2 UTSW 7 97039971 missense probably benign 0.00
Z1176:Nars2 UTSW 7 96951897 missense probably benign 0.04
Posted On 2012-12-06