Incidental Mutation 'IGL00990:Nars2'
ID 306781
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 # IGL00990
Quality Score
Status
Chromosome 7
Chromosomal Location 96600712-96713965 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 96651997 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: ENSMUST00000149204
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: 150 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 C A 15: 64,694,162 (GRCm39) V372L probably benign Het
Bod1l T C 5: 41,986,208 (GRCm39) D458G probably benign Het
Cacna1c G T 6: 118,590,256 (GRCm39) H1416N probably damaging Het
Cacna2d1 T C 5: 16,140,067 (GRCm39) I19T probably benign Het
Cadps T A 14: 12,715,374 (GRCm38) T153S possibly damaging Het
Cd200r1 A T 16: 44,614,672 (GRCm39) D317V possibly damaging Het
Cimap1c T C 9: 56,756,341 (GRCm39) E225G probably benign Het
Dcaf5 C T 12: 80,385,606 (GRCm39) R840H probably benign Het
Dnhd1 A C 7: 105,370,895 (GRCm39) H4725P possibly damaging Het
Echdc3 C A 2: 6,200,538 (GRCm39) L149F probably benign Het
Efhb T G 17: 53,769,649 (GRCm39) Q220P possibly damaging Het
Efr3b A T 12: 4,025,411 (GRCm39) Y18* probably null Het
Eri1 T C 8: 35,949,836 (GRCm39) K41R possibly damaging Het
Eri1 C A 8: 35,949,800 (GRCm39) G53V probably benign Het
Gm10212 A G 19: 11,546,924 (GRCm39) noncoding transcript Het
Gm11168 T G 9: 3,005,124 (GRCm39) F201C probably damaging Het
Gm14412 A C 2: 177,007,479 (GRCm39) S139A probably benign Het
Gm21411 C T 4: 146,977,067 (GRCm39) S69N possibly damaging Het
Gm21738 A G 14: 19,418,885 (GRCm38) C16R probably benign Het
Gm21967 T A 13: 120,071,071 (GRCm39) probably benign Het
Gm4952 A T 19: 12,600,987 (GRCm39) D69V probably damaging Het
Gm5591 T G 7: 38,219,838 (GRCm39) K345T probably benign Het
Gm7647 T C 5: 95,110,839 (GRCm39) S7P probably benign Het
Gm9758 G A 5: 14,963,522 (GRCm39) probably benign Het
Gtse1 C A 15: 85,753,018 (GRCm39) Q378K possibly damaging Het
Haus3 T C 5: 34,323,690 (GRCm39) K307E probably benign Het
Hjurp A G 1: 88,197,991 (GRCm39) L96S probably benign Het
Ifi205 T A 1: 173,854,899 (GRCm39) probably benign Het
Ighg1 A G 12: 113,292,804 (GRCm39) V255A unknown Het
Ighv14-4 T A 12: 114,140,252 (GRCm39) M49L probably benign Het
Jak1 A C 4: 101,028,554 (GRCm39) L508R probably damaging Het
Kif18a A G 2: 109,164,767 (GRCm39) Q821R probably benign Het
Kif21b T C 1: 136,080,080 (GRCm39) S539P possibly damaging Het
Klhdc2 T C 12: 69,353,987 (GRCm39) V266A probably benign Het
Lonp2 G T 8: 87,368,161 (GRCm39) probably benign Het
Mpdz C T 4: 81,221,821 (GRCm39) probably benign Het
Mroh2a G T 1: 88,172,692 (GRCm39) M823I probably benign Het
Mroh2a G A 1: 88,161,842 (GRCm39) G309D possibly damaging Het
Mroh2a G A 1: 88,158,468 (GRCm39) E172K probably damaging Het
Mtif3 C A 5: 146,895,914 (GRCm39) G58* probably null Het
Muc4 C T 16: 32,576,179 (GRCm39) probably benign Het
Muc4 C T 16: 32,575,114 (GRCm39) P1233L probably benign Het
Muc4 G T 16: 32,575,139 (GRCm39) K1241N probably benign Het
Muc4 G A 16: 32,575,140 (GRCm39) G1242R probably benign Het
Muc4 T G 16: 32,753,863 (GRCm38) N1246K probably benign Het
Muc4 A T 16: 32,753,886 (GRCm38) E1254V probably benign Het
Muc4 C T 16: 32,752,569 (GRCm38) P816S probably benign Het
Muc4 A G 16: 32,575,362 (GRCm39) R1316G probably benign Het
Muc4 C A 16: 32,575,246 (GRCm39) T1277K possibly damaging Het
Muc6 C T 7: 141,638,890 (GRCm38) A1957T possibly damaging Het
Naca T A 10: 127,879,669 (GRCm39) probably benign Het
Or1j14 A C 2: 36,418,005 (GRCm39) I194L probably benign Het
Or52b3 G T 7: 102,204,098 (GRCm39) L202F probably damaging Het
Or5b12b G T 19: 12,861,265 (GRCm39) V7L probably benign Het
Or6c216 T C 10: 129,678,342 (GRCm39) T190A probably damaging Het
Pcdh7 G A 5: 57,877,806 (GRCm39) E454K possibly damaging Het
Pip5kl1 C A 2: 32,473,359 (GRCm39) A332D probably benign Het
Pisd A T 5: 32,896,702 (GRCm39) S280T probably benign Het
Pramel34 T A 5: 93,784,336 (GRCm39) Q376L probably damaging Het
Pramel5 A G 4: 144,000,549 (GRCm39) L9P probably damaging Het
Prkd3 G T 17: 79,261,952 (GRCm39) N787K probably benign Het
Prkdc A T 16: 15,519,979 (GRCm39) H1139L probably benign Het
R3hdm1 A G 1: 128,089,933 (GRCm39) probably benign Het
Rbfox2 T C 15: 76,987,136 (GRCm39) N206D probably damaging Het
Rlf T C 4: 121,005,536 (GRCm39) E1258G possibly damaging Het
Rpl8 T C 15: 76,789,242 (GRCm39) probably benign Het
Senp5 A C 16: 31,809,092 (GRCm39) V27G probably benign Het
Serpina1b T A 12: 103,694,525 (GRCm39) K406N probably damaging Het
Sfi1 C T 11: 3,085,671 (GRCm39) A853T probably damaging Het
Sfi1 T C 11: 3,093,689 (GRCm39) probably benign Het
Sfi1 G A 11: 3,084,337 (GRCm39) A975V probably benign Het
Shc1 T C 3: 89,331,536 (GRCm39) S154P probably damaging Het
Sirpd C T 3: 15,397,205 (GRCm39) probably null Het
Skint5 A G 4: 113,400,070 (GRCm39) probably null Het
Slc17a8 T C 10: 89,412,392 (GRCm39) D531G probably benign Het
Slc4a10 A C 2: 62,117,284 (GRCm39) T718P probably damaging Het
Slc7a11 C T 3: 50,333,518 (GRCm39) R411Q probably damaging Het
Slitrk3 A G 3: 72,957,414 (GRCm39) F453L probably damaging Het
Slk A C 19: 47,568,691 (GRCm39) Q20P probably damaging Het
Smg5 T C 3: 88,250,345 (GRCm39) probably null Het
Sp110 G A 1: 85,514,002 (GRCm39) R252C possibly damaging Het
Sp140 G A 1: 85,553,854 (GRCm39) R231K probably benign Het
Sp140 C T 1: 85,553,886 (GRCm39) R242C possibly damaging Het
Speer4a3 A C 5: 26,159,222 (GRCm39) W41G probably benign Het
Speer4b G A 5: 27,706,272 (GRCm39) P30S probably damaging Het
Spef1l A C 7: 139,558,016 (GRCm39) V60G probably damaging Het
Stim1 T A 7: 102,075,954 (GRCm39) H395Q probably damaging Het
Sult2a1 T C 7: 13,537,961 (GRCm39) I187M probably benign Het
Thap1 G A 8: 26,652,759 (GRCm39) D189N probably benign Het
Thap1 C T 8: 26,650,910 (GRCm39) P37L possibly damaging Het
Thrap3 C T 4: 126,059,188 (GRCm39) probably benign Het
Tmem132d C T 5: 127,861,896 (GRCm39) V742I possibly damaging Het
Tmprss9 A G 10: 80,728,126 (GRCm39) D572G possibly damaging Het
Tmtc1 T G 6: 148,345,442 (GRCm39) T86P probably benign Het
Trip12 A T 1: 84,729,605 (GRCm39) N1026K probably damaging Het
Ttll5 T A 12: 85,923,363 (GRCm39) V280E probably damaging Het
Ubn2 T A 6: 38,459,540 (GRCm39) D592E possibly damaging Het
Ubr1 T G 2: 120,761,353 (GRCm39) H608P probably damaging Het
Ugt1a6b A T 1: 88,142,900 (GRCm39) probably null Het
Vmn1r77 C A 7: 11,775,695 (GRCm39) S89Y probably benign Het
Vmn1r77 A C 7: 11,775,403 (GRCm39) I60L probably benign Het
Vmn2r114 G A 17: 23,509,939 (GRCm39) A847V probably benign Het
Vmn2r114 A T 17: 23,510,212 (GRCm39) L756Q probably damaging Het
Vmn2r114 G T 17: 23,509,957 (GRCm39) S841Y probably benign Het
Vmn2r115 G A 17: 23,578,753 (GRCm39) G742D probably damaging Het
Vmn2r115 C T 17: 23,565,238 (GRCm39) S375F probably benign Het
Vmn2r115 A G 17: 23,575,934 (GRCm39) M511V probably benign Het
Vmn2r115 A G 17: 23,565,346 (GRCm39) Q411R probably benign Het
Vmn2r115 C T 17: 23,565,345 (GRCm39) Q411* probably null Het
Vmn2r115 C T 17: 23,578,371 (GRCm39) P615S probably damaging Het
Vmn2r115 A G 17: 23,565,135 (GRCm39) N341D probably benign Het
Vmn2r115 G A 17: 23,565,252 (GRCm39) E380K probably benign Het
Vmn2r115 A C 17: 23,565,313 (GRCm39) N400T probably damaging Het
Vmn2r115 T A 17: 23,578,798 (GRCm39) L757Q probably damaging Het
Vmn2r115 G T 17: 23,567,008 (GRCm39) G507* probably null Het
Vmn2r115 A T 17: 23,565,180 (GRCm39) M356L possibly damaging Het
Vmn2r115 C T 17: 23,565,150 (GRCm39) P346S probably benign Het
Vmn2r115 G T 17: 23,578,323 (GRCm39) A599S probably benign Het
Vmn2r116 C T 17: 23,606,210 (GRCm39) S374F probably benign Het
Vmn2r116 C T 17: 23,616,701 (GRCm39) P540S probably damaging Het
Vmn2r117 T G 17: 23,694,403 (GRCm39) K481N probably damaging Het
Vmn2r117 C T 17: 23,696,814 (GRCm39) A198T probably damaging Het
Vmn2r117 A C 17: 23,698,520 (GRCm39) S18A probably benign Het
Vmn2r121 T G X: 123,037,499 (GRCm39) K840N probably benign Het
Vmn2r121 C T X: 123,043,413 (GRCm39) E73K probably benign Het
Vmn2r121 T A X: 123,037,480 (GRCm39) N847Y possibly damaging Het
Vmn2r125 T A 4: 156,703,521 (GRCm39) L300M probably benign Het
Vmn2r125 A T 4: 156,703,332 (GRCm39) T237S probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Vmn2r125 C A 4: 156,703,194 (GRCm39) Q191K probably benign Het
Vmn2r125 A C 4: 156,703,195 (GRCm39) Q191P probably benign Het
Vmn2r125 T C 4: 156,703,261 (GRCm39) V213A probably benign Het
Vmn2r125 T C 4: 156,703,678 (GRCm39) M352T probably benign Het
Vmn2r129 C A 4: 156,690,730 (GRCm39) noncoding transcript Het
Vmn2r129 A T 4: 156,690,441 (GRCm39) noncoding transcript Het
Vmn2r129 T G 4: 156,690,779 (GRCm39) noncoding transcript Het
Vmn2r129 T G 4: 156,686,857 (GRCm39) noncoding transcript Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r129 T C 4: 156,686,558 (GRCm39) noncoding transcript Het
Vmn2r129 G T 4: 156,690,755 (GRCm39) noncoding transcript Het
Vmn2r88 A G 14: 51,650,582 (GRCm39) I98M probably benign Het
Vmn2r88 C T 14: 51,654,259 (GRCm39) P539L possibly damaging Het
Vmn2r88 T C 14: 51,650,713 (GRCm39) I142T probably benign Het
Vmn2r88 T C 14: 51,650,517 (GRCm39) F77L probably benign Het
Vmn2r89 A C 14: 51,693,428 (GRCm39) Q259H probably benign Het
Vmn2r89 T G 14: 51,694,950 (GRCm39) L477V probably benign Het
Zfp180 C T 7: 23,804,255 (GRCm39) R225C probably benign Het
Zfp180 G A 7: 23,803,841 (GRCm39) C85Y possibly damaging Het
Zfp180 G A 7: 23,804,420 (GRCm39) V280M possibly damaging Het
Zfp982 G A 4: 147,596,826 (GRCm39) C61Y 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
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 2015-04-16