Incidental Mutation 'R6209:Nars2'
ID 503333
Institutional Source Beutler Lab
Gene Symbol Nars2
Ensembl Gene ENSMUSG00000018995
Gene Name asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)
Synonyms
MMRRC Submission 044343-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6209 (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 96706728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 413 (H413R)
Ref Sequence ENSEMBL: ENSMUSP00000044937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044466] [ENSMUST00000150681]
AlphaFold Q8BGV0
Predicted Effect probably benign
Transcript: ENSMUST00000044466
AA Change: H413R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
AA Change: H413R

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: ENSMUST00000122835
Predicted Effect probably benign
Transcript: ENSMUST00000150681
AA Change: H36R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T A 1: 38,232,670 (GRCm39) M990L probably benign Het
Agl A T 3: 116,578,845 (GRCm39) Y429* probably null Het
Ahnak A T 19: 8,989,930 (GRCm39) K3738M probably damaging Het
Amn G T 12: 111,241,845 (GRCm39) V304L probably damaging Het
Ap3s1 G A 18: 46,912,318 (GRCm39) V113I probably benign Het
Arhgef28 A T 13: 98,065,917 (GRCm39) probably null Het
Atad2 A G 15: 57,981,811 (GRCm39) S18P probably damaging Het
Bhmt1b C T 18: 87,775,341 (GRCm39) A288V probably damaging Het
C4b T A 17: 34,960,061 (GRCm39) E305V possibly damaging Het
Caskin1 T C 17: 24,726,095 (GRCm39) S1401P possibly damaging Het
Cblc A T 7: 19,519,230 (GRCm39) V366D possibly damaging Het
Cdk17 A T 10: 93,044,093 (GRCm39) T11S probably benign Het
Cenpc1 A G 5: 86,181,509 (GRCm39) S619P probably benign Het
Clec4d T G 6: 123,247,488 (GRCm39) probably null Het
Disp2 T C 2: 118,617,402 (GRCm39) L132P probably damaging Het
Dync2h1 T C 9: 7,165,677 (GRCm39) K528R probably benign Het
Fbxw26 A G 9: 109,547,033 (GRCm39) I464T possibly damaging Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gabbr2 A G 4: 46,804,069 (GRCm39) V262A probably damaging Het
Galnt17 T A 5: 131,110,434 (GRCm39) M302L probably benign Het
Gpn3 T C 5: 122,520,175 (GRCm39) I243T probably benign Het
Gpr160 T C 3: 30,950,141 (GRCm39) V71A possibly damaging Het
Gramd1b G T 9: 40,244,946 (GRCm39) A154D probably damaging Het
Grid2ip G A 5: 143,366,184 (GRCm39) S379N probably damaging Het
H60b C A 10: 22,163,043 (GRCm39) T206N probably benign Het
Hydin A T 8: 111,320,434 (GRCm39) I4493F probably benign Het
Il19 C T 1: 130,866,852 (GRCm39) E43K possibly damaging Het
Ints2 A G 11: 86,115,884 (GRCm39) Y782H probably damaging Het
Itprid1 T A 6: 55,851,306 (GRCm39) I62N probably damaging Het
Jph1 C A 1: 17,167,810 (GRCm39) D7Y probably damaging Het
Lipo2 T C 19: 33,726,852 (GRCm39) I62V probably damaging Het
Map7 G A 10: 20,152,026 (GRCm39) probably null Het
Matk T G 10: 81,095,422 (GRCm39) W81G probably damaging Het
Matn4 T C 2: 164,242,735 (GRCm39) Y121C probably damaging Het
Mical2 G A 7: 111,923,293 (GRCm39) probably null Het
Miga2 T G 2: 30,271,674 (GRCm39) Y399D probably damaging Het
Mocos A T 18: 24,799,672 (GRCm39) E302V probably benign Het
Mrpl11 C T 19: 5,014,743 (GRCm39) A172V probably damaging Het
Mrpl48 A C 7: 100,209,001 (GRCm39) Y108D probably damaging Het
Mtr A G 13: 12,205,278 (GRCm39) S1061P probably benign Het
Myh11 T A 16: 14,026,155 (GRCm39) K1309* probably null Het
Myom2 G A 8: 15,154,173 (GRCm39) V704I possibly damaging Het
Nckap1 A G 2: 80,355,946 (GRCm39) L619P probably damaging Het
Notch1 T C 2: 26,362,817 (GRCm39) N983S probably damaging Het
Nup210 A G 6: 91,002,337 (GRCm39) V717A probably benign Het
P4ha3 G T 7: 99,966,292 (GRCm39) G479V probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Phf11a A G 14: 59,525,028 (GRCm39) S59P probably damaging Het
Phyhip G A 14: 70,700,798 (GRCm39) S95N probably benign Het
Ppat A G 5: 77,065,993 (GRCm39) V375A probably benign Het
Prkdc A G 16: 15,608,456 (GRCm39) E3086G probably damaging Het
Psg22 A G 7: 18,453,599 (GRCm39) E98G probably damaging Het
Rabgap1 A T 2: 37,453,610 (GRCm39) K1013* probably null Het
Retreg3 C T 11: 101,010,526 (GRCm39) G27D probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sema6a A T 18: 47,431,369 (GRCm39) probably null Het
Septin10 T C 10: 59,006,670 (GRCm39) E349G probably damaging Het
Serpina1c A G 12: 103,863,429 (GRCm39) V257A probably damaging Het
Sgpp2 T A 1: 78,367,119 (GRCm39) M84K probably damaging Het
Shoc1 A G 4: 59,043,869 (GRCm39) *1482R probably null Het
Skint11 A G 4: 114,101,907 (GRCm39) S116G possibly damaging Het
Slc2a5 G A 4: 150,227,557 (GRCm39) V459I probably benign Het
Smarca2 T G 19: 26,748,404 (GRCm39) Y126* probably null Het
Stab2 T G 10: 86,758,867 (GRCm39) N1024H possibly damaging Het
Sting1 A T 18: 35,869,155 (GRCm39) I178N probably damaging Het
Svep1 A C 4: 58,128,869 (GRCm39) F609L probably benign Het
Tbc1d2 G A 4: 46,614,068 (GRCm39) T671I probably damaging Het
Thoc5 T C 11: 4,855,697 (GRCm39) I82T probably damaging Het
Tmem213 G T 6: 38,092,517 (GRCm39) C83F probably damaging Het
Topaz1 G A 9: 122,579,570 (GRCm39) D827N possibly damaging Het
Trappc10 C A 10: 78,050,646 (GRCm39) G265V possibly damaging Het
Ttn A G 2: 76,539,808 (GRCm39) S26066P probably damaging Het
Zfp292 G T 4: 34,809,442 (GRCm39) Q1201K probably benign Het
Zfp354a T A 11: 50,951,815 (GRCm39) probably null Het
Zfp418 T C 7: 7,185,096 (GRCm39) V353A possibly damaging Het
Zfp444 G A 7: 6,192,948 (GRCm39) probably benign Het
Zfp503 C A 14: 22,035,778 (GRCm39) Q379H probably damaging Het
Zfp804a A G 2: 82,088,462 (GRCm39) K764E probably 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
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
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'- AGCTCTGCCCATAACTTACTG -3'
(R):5'- ACTCACAGATGTTAGAGCAACC -3'

Sequencing Primer
(F):5'- ACAGTGGATGAGAGTCTAATAGTC -3'
(R):5'- AACCTTTGCTGATCACTTGGAG -3'
Posted On 2018-02-27