Incidental Mutation 'R0943:Nars2'
ID 81963
Institutional Source Beutler Lab
Gene Symbol Nars2
Ensembl Gene ENSMUSG00000018995
Gene Name asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)
Synonyms
MMRRC Submission 039082-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0943 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 96600712-96713965 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 96605138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044466] [ENSMUST00000107159]
AlphaFold Q8BGV0
Predicted Effect probably benign
Transcript: ENSMUST00000044466
SMART Domains Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995

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
SMART Domains Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995

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: ENSMUST00000129409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149204
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency 97% (36/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,648,416 (GRCm39) N468S probably benign Het
Card6 A G 15: 5,129,768 (GRCm39) S543P probably damaging Het
Celsr1 T G 15: 85,787,489 (GRCm39) T2750P probably damaging Het
Csmd3 A G 15: 47,539,135 (GRCm39) M2341T probably damaging Het
Dym A G 18: 75,419,840 (GRCm39) *670W probably null Het
Ehbp1 T C 11: 22,045,883 (GRCm39) D597G probably benign Het
Emx1 G A 6: 85,180,901 (GRCm39) W206* probably null Het
Esr1 A G 10: 4,696,781 (GRCm39) K210R probably damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fads2b C T 2: 85,319,109 (GRCm39) D398N probably damaging Het
Fam72a T C 1: 131,456,517 (GRCm39) S27P possibly damaging Het
Fanca A T 8: 124,000,925 (GRCm39) C1152S probably damaging Het
Fras1 G A 5: 96,874,402 (GRCm39) V2276I probably benign Het
Hoxb13 A G 11: 96,086,799 (GRCm39) E202G probably benign Het
Lcmt1 T G 7: 123,000,662 (GRCm39) probably null Het
Neil3 ATATTTATTTATTTATTTATTTATTTATTTATT ATATTTATTTATTTATTTATTTATTTATTTATTTATT 8: 54,062,404 (GRCm39) probably benign Het
Nup153 T C 13: 46,850,248 (GRCm39) probably benign Het
Or4c10b T C 2: 89,711,305 (GRCm39) V45A probably benign Het
Or5b112 C A 19: 13,319,157 (GRCm39) H12N probably benign Het
Prkar2a T C 9: 108,610,475 (GRCm39) probably benign Het
Ptprc T C 1: 138,038,902 (GRCm39) T209A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf26rt T C 6: 76,473,398 (GRCm39) H406R probably benign Het
Rprd2 C T 3: 95,691,559 (GRCm39) V239I possibly damaging Het
Sgo2b A G 8: 64,384,369 (GRCm39) F209S possibly damaging Het
Shfl A T 9: 20,784,258 (GRCm39) H160L possibly damaging Het
Spry2 T C 14: 106,131,021 (GRCm39) Y55C probably damaging Het
Tbc1d32 A T 10: 56,037,243 (GRCm39) V667E probably benign Het
Tbrg4 A G 11: 6,569,008 (GRCm39) F388L probably damaging Het
Tmt1a T C 15: 100,202,839 (GRCm39) Y20H probably benign Het
Tshz1 T C 18: 84,033,356 (GRCm39) T351A probably benign Het
Usp48 A G 4: 137,371,781 (GRCm39) N969S possibly damaging Het
Vmn2r108 A T 17: 20,691,397 (GRCm39) C375* probably null Het
Vps45 T A 3: 95,964,336 (GRCm39) I62F probably benign Het
Xab2 A G 8: 3,663,667 (GRCm39) F388L probably benign Het
Zfp735 A G 11: 73,602,909 (GRCm39) T618A probably benign Het
Zswim2 T A 2: 83,748,342 (GRCm39) R279S possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGGTTCAggagagatggctctgtg -3'
(R):5'- ggcagaggaTACCAGCATGTGAAAA -3'

Sequencing Primer
(F):5'- cctttgttttcctttgttttgttttg -3'
(R):5'- aggaTACCAGCATGTGAAAATGTTAG -3'
Posted On 2013-11-08