Incidental Mutation 'IGL00796:Nars2'
ID 12236
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
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00796
Quality Score
Status
Chromosome 7
Chromosomal Location 96600712-96713965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96680786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 319 (L319I)
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: L319I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
AA Change: L319I

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: L319I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
AA Change: L319I

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 unknown
Transcript: ENSMUST00000122835
AA Change: P70H
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: 138,156,742 (GRCm39) T143A probably benign Het
Alk T A 17: 72,212,137 (GRCm39) N802I possibly damaging Het
Aspn A G 13: 49,710,893 (GRCm39) I179M probably damaging Het
Bptf A G 11: 106,945,376 (GRCm39) L2506P probably damaging Het
Cacna1f T A X: 7,497,270 (GRCm39) D1594E probably damaging Het
Chd7 T A 4: 8,847,271 (GRCm39) N1671K possibly damaging Het
Dnah7b T C 1: 46,250,497 (GRCm39) V1706A probably damaging Het
Elmo2 A T 2: 165,133,934 (GRCm39) probably benign Het
Ercc6 T C 14: 32,291,959 (GRCm39) S1108P probably benign Het
Fam53a A T 5: 33,758,171 (GRCm39) D317E probably benign Het
Gria2 T C 3: 80,618,097 (GRCm39) N313D probably benign Het
Itch A T 2: 155,051,002 (GRCm39) H563L probably damaging Het
Kdm1a G A 4: 136,281,558 (GRCm39) A651V probably damaging Het
Myb T G 10: 21,017,698 (GRCm39) Q631P probably benign Het
Myh9 A T 15: 77,681,195 (GRCm39) probably benign Het
Pdcl2 G A 5: 76,467,022 (GRCm39) T57I probably damaging Het
Pde6g T A 11: 120,341,390 (GRCm39) I17L probably benign Het
Ppp1r9a T A 6: 5,157,014 (GRCm39) M964K probably benign Het
Ssxb2 A G X: 8,324,459 (GRCm39) probably benign Het
Tonsl T C 15: 76,509,349 (GRCm39) T8A probably benign Het
Zdbf2 T C 1: 63,346,364 (GRCm39) M1581T probably benign Het
Other mutations in Nars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Nars2 APN 7 96,680,787 (GRCm39) missense probably benign 0.40
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
R1389:Nars2 UTSW 7 96,652,036 (GRCm39) missense 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
Posted On 2012-12-06