Incidental Mutation 'R9658:Nars2'
ID 735540
Institutional Source Beutler Lab
Gene Symbol Nars2
Ensembl Gene ENSMUSG00000018995
Gene Name asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9658 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 96600712-96713965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96689178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 367 (I367V)
Ref Sequence ENSEMBL: ENSMUSP00000044937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044466] [ENSMUST00000107159] [ENSMUST00000150681]
AlphaFold Q8BGV0
Predicted Effect probably benign
Transcript: ENSMUST00000044466
AA Change: I367V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
AA Change: I367V

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: I367V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
AA Change: I367V

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 probably benign
Transcript: ENSMUST00000122835
Predicted Effect probably benign
Transcript: ENSMUST00000150681
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,600,401 (GRCm39) probably null Het
Abca12 T C 1: 71,325,634 (GRCm39) I1521M probably damaging Het
Abcc3 A G 11: 94,263,703 (GRCm39) S268P possibly damaging Het
Adamts20 G C 15: 94,249,626 (GRCm39) P464A probably damaging Het
Apoa1 C A 9: 46,141,280 (GRCm39) D125E probably benign Het
Atp6v0a1 C A 11: 100,909,414 (GRCm39) Q48K probably benign Het
Bptf T C 11: 107,002,170 (GRCm39) N314S probably damaging Het
Cdh20 T C 1: 109,988,785 (GRCm39) V229A probably damaging Het
Cfap46 G A 7: 139,246,229 (GRCm39) T378M Het
Clca3b T A 3: 144,543,575 (GRCm39) D418V probably damaging Het
Dennd4c T A 4: 86,754,625 (GRCm39) L1545* probably null Het
Dnajc13 A G 9: 104,115,728 (GRCm39) V27A probably benign Het
Efcab3 A G 11: 104,611,120 (GRCm39) K321E probably benign Het
Eif2ak2 A T 17: 79,183,632 (GRCm39) D72E probably benign Het
Eif2ak4 T C 2: 118,269,511 (GRCm39) I862T probably damaging Het
Eif4g1 T C 16: 20,502,863 (GRCm39) I1022T probably benign Het
Enpp3 A T 10: 24,649,802 (GRCm39) *875R probably null Het
F11 T C 8: 45,698,671 (GRCm39) Y491C probably damaging Het
Fam98c A C 7: 28,852,206 (GRCm39) W118G probably damaging Het
Fbxo43 A T 15: 36,152,282 (GRCm39) L509Q probably damaging Het
Fbxw5 A G 2: 25,393,870 (GRCm39) H366R probably damaging Het
Flt1 G T 5: 147,525,377 (GRCm39) N920K probably damaging Het
Git1 T A 11: 77,390,581 (GRCm39) F106I probably damaging Het
Glipr1l2 A G 10: 111,942,868 (GRCm39) E241G probably damaging Het
Gm2381 A C 7: 42,469,729 (GRCm39) C132G probably damaging Het
Gm49383 A G 12: 69,239,628 (GRCm39) I237T Het
Gm7324 T A 14: 43,952,282 (GRCm39) D308E probably benign Het
Gpr17 A G 18: 32,080,421 (GRCm39) L214P probably damaging Het
Gtf3c1 A T 7: 125,306,734 (GRCm39) L39Q probably damaging Het
H2-Q6 C T 17: 35,644,185 (GRCm39) R56C probably damaging Het
Hcar2 T C 5: 124,002,532 (GRCm39) T324A possibly damaging Het
Ksr2 T C 5: 117,885,425 (GRCm39) S750P probably damaging Het
Lipi C A 16: 75,357,689 (GRCm39) R292L probably benign Het
Map4k3 C A 17: 80,961,306 (GRCm39) M133I probably benign Het
Marf1 A T 16: 13,958,087 (GRCm39) L805Q probably damaging Het
Mccc2 T A 13: 100,090,754 (GRCm39) R460W probably damaging Het
Mgam A G 6: 40,721,311 (GRCm39) D312G possibly damaging Het
Nadk2 A T 15: 9,103,449 (GRCm39) K360* probably null Het
Nalf1 T C 8: 9,820,114 (GRCm39) D302G probably benign Het
Nppb T C 4: 148,070,951 (GRCm39) S109P possibly damaging Het
Odf2 G A 2: 29,779,813 (GRCm39) R15Q probably benign Het
Or4f59 C A 2: 111,872,823 (GRCm39) A185S probably damaging Het
Or51l4 C T 7: 103,404,028 (GRCm39) V255M probably damaging Het
Or5ac25 A T 16: 59,182,106 (GRCm39) H158Q probably damaging Het
Osbpl1a A T 18: 12,889,269 (GRCm39) I949N probably benign Het
Pan3 T C 5: 147,479,881 (GRCm39) F55L probably benign Het
Patj A G 4: 98,353,377 (GRCm39) D640G probably null Het
Pdxk T C 10: 78,287,403 (GRCm39) K53E probably benign Het
Pja2 A G 17: 64,599,868 (GRCm39) S539P probably damaging Het
Plscr1 T A 9: 92,148,535 (GRCm39) C158* probably null Het
Prdm14 T C 1: 13,189,145 (GRCm39) T400A probably benign Het
Rag1 C T 2: 101,473,229 (GRCm39) V638M possibly damaging Het
Ros1 A G 10: 51,967,069 (GRCm39) S1734P probably damaging Het
S100a9 T C 3: 90,600,081 (GRCm39) H105R unknown Het
Shisa9 A T 16: 12,062,520 (GRCm39) Q247L possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc27a4 G A 2: 29,701,301 (GRCm39) R364Q probably damaging Het
Spag17 C T 3: 99,934,932 (GRCm39) P713S possibly damaging Het
Tbc1d4 T A 14: 101,845,856 (GRCm39) H14L probably damaging Het
Tmem144 T A 3: 79,729,991 (GRCm39) Y253F probably damaging Het
Tmem204 C T 17: 25,299,322 (GRCm39) G66R possibly damaging Het
Tnfrsf1b A T 4: 144,942,424 (GRCm39) V453E probably damaging Het
Tns1 G C 1: 73,981,182 (GRCm39) Q1061E probably benign Het
Tns1 G T 1: 73,981,183 (GRCm39) N1060K probably benign Het
Trav5-1 A G 14: 52,860,428 (GRCm39) K78E probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Usp17lc G A 7: 103,067,389 (GRCm39) G228D possibly damaging Het
Uvssa T C 5: 33,568,333 (GRCm39) C574R probably damaging Het
Veph1 G A 3: 66,171,434 (GRCm39) Q3* probably null Het
Vps13b T A 15: 35,623,774 (GRCm39) D1230E probably benign Het
Xkr9 T A 1: 13,771,318 (GRCm39) I278N probably damaging Het
Zbed4 C A 15: 88,664,742 (GRCm39) A270E probably benign Het
Zfp366 A T 13: 99,365,435 (GRCm39) T199S 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
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
Z1176:Nars2 UTSW 7 96,601,104 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AGCTGCACACATCATTGAGC -3'
(R):5'- TTGAATCTGCTAAACTAAGACCCC -3'

Sequencing Primer
(F):5'- ATCATTGAGCTCCAAGGGC -3'
(R):5'- ATAGAACACTGGGCTCTGTGG -3'
Posted On 2022-11-14