Incidental Mutation 'R8284:Nars2'
ID 656524
Institutional Source Beutler Lab
Gene Symbol Nars2
Ensembl Gene ENSMUSG00000018995
Gene Name asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)
Synonyms
MMRRC Submission 067707-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8284 (G1)
Quality Score 93.0077
Status Validated
Chromosome 7
Chromosomal Location 96600712-96713965 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to A at 96600845 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T C 10: 61,034,438 (GRCm39) Y1147C possibly damaging Het
Adgrf5 T A 17: 43,766,161 (GRCm39) S1328T unknown Het
Aff4 A G 11: 53,295,379 (GRCm39) K860E probably damaging Het
Aox1 A C 1: 58,115,250 (GRCm39) H745P probably damaging Het
Bpifc T C 10: 85,836,413 (GRCm39) T31A probably benign Het
C3 C A 17: 57,530,938 (GRCm39) V388L probably benign Het
Celsr3 G T 9: 108,723,612 (GRCm39) M2874I probably damaging Het
Cnga4 T A 7: 105,057,239 (GRCm39) D550E probably benign Het
Dhx8 A G 11: 101,648,455 (GRCm39) T918A probably damaging Het
Dnah14 A C 1: 181,601,376 (GRCm39) E3670A probably benign Het
Fbxo31 T C 8: 122,287,181 (GRCm39) I131V probably benign Het
Ftcd T C 10: 76,413,893 (GRCm39) V99A probably benign Het
Gucy2e A G 11: 69,123,177 (GRCm39) V471A probably benign Het
H60b T A 10: 22,162,971 (GRCm39) L182Q probably benign Het
Hbp1 G A 12: 31,987,625 (GRCm39) H188Y probably damaging Het
Itga4 C T 2: 79,151,783 (GRCm39) T862I probably benign Het
Kcnmb4 T A 10: 116,254,158 (GRCm39) K206N probably damaging Het
Klra4 A G 6: 130,042,243 (GRCm39) F8S possibly damaging Het
Mrpl2 C A 17: 46,958,435 (GRCm39) Y72* probably null Het
Nup214 T C 2: 31,886,458 (GRCm39) S607P possibly damaging Het
Oas1d C T 5: 121,057,221 (GRCm39) R276* probably null Het
Or12d13 C T 17: 37,647,587 (GRCm39) V179I probably benign Het
Or1l8 T A 2: 36,818,018 (GRCm39) Y36F probably damaging Het
Or2t1 T A 14: 14,329,011 (GRCm38) L300Q possibly damaging Het
Or2y1b A G 11: 49,209,002 (GRCm39) T210A probably benign Het
Pex13 A G 11: 23,605,685 (GRCm39) S182P possibly damaging Het
Piwil4 G T 9: 14,638,774 (GRCm39) N297K probably benign Het
Plxna4 T C 6: 32,129,789 (GRCm39) T1845A probably benign Het
Pml T C 9: 58,136,643 (GRCm39) N579D probably benign Het
Ppl A G 16: 4,950,201 (GRCm39) S3P probably damaging Het
Pramel16 G T 4: 143,676,695 (GRCm39) D136E possibly damaging Het
Prss54 G A 8: 96,285,994 (GRCm39) Q360* probably null Het
Ralgps2 A G 1: 156,655,718 (GRCm39) I402T probably benign Het
Rnf213 T A 11: 119,318,909 (GRCm39) D1123E Het
Sdha A T 13: 74,479,416 (GRCm39) probably null Het
Senp8 G A 9: 59,644,814 (GRCm39) T114I Het
Setx C T 2: 29,035,348 (GRCm39) T611I possibly damaging Het
Shc1 T G 3: 89,329,215 (GRCm39) S20A possibly damaging Het
Slc15a1 T C 14: 121,727,275 (GRCm39) I98V probably benign Het
Snrk A G 9: 121,989,538 (GRCm39) E294G probably damaging Het
Sox18 G A 2: 181,312,751 (GRCm39) P127S probably damaging Het
Spta1 A G 1: 174,007,387 (GRCm39) T206A probably benign Het
Tcfl5 A G 2: 180,280,330 (GRCm39) S358P probably benign Het
Tecta T A 9: 42,289,325 (GRCm39) L413F possibly damaging Het
Tlk1 T C 2: 70,544,365 (GRCm39) T757A probably benign Het
Tmem232 T A 17: 65,709,990 (GRCm39) I433F probably damaging Het
Top1mt T A 15: 75,539,712 (GRCm39) K300* probably null Het
Trbv20 C T 6: 41,165,782 (GRCm39) A69V probably damaging Het
Trim12a A T 7: 103,955,282 (GRCm39) L147Q probably damaging Het
Tuba8 G A 6: 121,199,736 (GRCm39) S140N probably damaging Het
Vcan A T 13: 89,852,454 (GRCm39) N835K possibly damaging Het
Xrcc1 G A 7: 24,271,703 (GRCm39) R562H probably damaging Het
Yipf7 C T 5: 69,674,539 (GRCm39) G202D probably benign Het
Ythdc1 T G 5: 86,964,325 (GRCm39) S45A probably benign Het
Zfp1002 T C 2: 150,097,276 (GRCm39) probably benign 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
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
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'- GGACACAATCACGCATGCTC -3'
(R):5'- AGTCAAGCAAGCTCAGGCAG -3'

Sequencing Primer
(F):5'- TCACGCATGCTCAGACTC -3'
(R):5'- ACGCGCATTTTGGCAGAC -3'
Posted On 2020-12-14