Incidental Mutation 'R0238:Rars2'
ID 66076
Institutional Source Beutler Lab
Gene Symbol Rars2
Ensembl Gene ENSMUSG00000028292
Gene Name arginyl-tRNA synthetase 2, mitochondrial
Synonyms 1500002I10Rik, PRO1992, Rarsl
MMRRC Submission 038476-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0238 (G1)
Quality Score 211
Status Not validated
Chromosome 4
Chromosomal Location 34614957-34660167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 34656030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 421 (Q421P)
Ref Sequence ENSEMBL: ENSMUSP00000029968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029968]
AlphaFold Q3U186
Predicted Effect probably benign
Transcript: ENSMUST00000029968
AA Change: Q421P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292
AA Change: Q421P

DomainStartEndE-ValueType
Pfam:tRNA-synt_1d 110 449 1e-97 PFAM
DALR_1 463 578 3.64e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142045
Meta Mutation Damage Score 0.0895 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 92.6%
  • 20x: 76.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T G 2: 156,392,893 (GRCm39) V94G probably benign Het
Acp5 A T 9: 22,041,218 (GRCm39) S70T possibly damaging Het
Adcy1 C G 11: 7,089,162 (GRCm39) N525K possibly damaging Het
Aknad1 A G 3: 108,688,555 (GRCm39) M628V probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Cacna1d A G 14: 29,845,453 (GRCm39) V572A probably benign Het
Ccdc158 A C 5: 92,809,977 (GRCm39) M177R probably benign Het
Ccdc191 A T 16: 43,767,859 (GRCm39) R678* probably null Het
Cdkn2d C A 9: 21,202,288 (GRCm39) probably benign Het
Cdx2 G T 5: 147,240,097 (GRCm39) T193K probably damaging Het
Cfap44 T A 16: 44,242,681 (GRCm39) M695K probably benign Het
Cfap70 A C 14: 20,498,673 (GRCm39) S5A probably benign Het
Chd9 T C 8: 91,659,456 (GRCm39) S139P probably damaging Het
Chmp7 A G 14: 69,958,446 (GRCm39) V241A probably damaging Het
Cnga1 A G 5: 72,762,374 (GRCm39) I380T probably damaging Het
Cts6 T A 13: 61,349,633 (GRCm39) E53D probably damaging Het
Dclk3 A T 9: 111,311,696 (GRCm39) N646I probably damaging Het
Dnhd1 A G 7: 105,370,738 (GRCm39) S4673G probably benign Het
Dock4 G T 12: 40,787,539 (GRCm39) S818I probably damaging Het
Dysf C T 6: 84,041,461 (GRCm39) Q156* probably null Het
Fam163b T C 2: 27,002,646 (GRCm39) N117S probably damaging Het
Fam89a A G 8: 125,467,971 (GRCm39) Y114H probably damaging Het
Flcn T C 11: 59,691,902 (GRCm39) N249S probably benign Het
Gm20422 T C 8: 70,219,365 (GRCm39) Y53C probably damaging Het
Gnai1 A G 5: 18,478,548 (GRCm39) S206P probably damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Hal T C 10: 93,339,344 (GRCm39) S478P possibly damaging Het
Haus3 G A 5: 34,323,600 (GRCm39) P337S possibly damaging Het
Hectd1 T A 12: 51,816,101 (GRCm39) M1324L possibly damaging Het
Hspa9 A T 18: 35,079,699 (GRCm39) Y243* probably null Het
Htr3a T C 9: 48,817,686 (GRCm39) T96A probably benign Het
Ift140 C A 17: 25,264,497 (GRCm39) C557* probably null Het
Jph3 A G 8: 122,480,459 (GRCm39) Q379R possibly damaging Het
Kcnb1 A G 2: 166,946,889 (GRCm39) V653A probably benign Het
Kif14 A G 1: 136,455,131 (GRCm39) E1551G probably damaging Het
Krt17 G A 11: 100,151,704 (GRCm39) R30* probably null Het
Lamb3 A T 1: 193,003,361 (GRCm39) D100V probably damaging Het
Map2 A G 1: 66,455,265 (GRCm39) D1385G probably damaging Het
Map3k21 A G 8: 126,671,709 (GRCm39) D999G possibly damaging Het
Marf1 T C 16: 13,969,147 (GRCm39) I109V probably benign Het
Mcam T G 9: 44,051,502 (GRCm39) probably null Het
Med18 T C 4: 132,187,337 (GRCm39) H99R probably damaging Het
Mettl25 C T 10: 105,662,386 (GRCm39) V195I probably damaging Het
Myh8 A G 11: 67,192,518 (GRCm39) T1466A probably benign Het
Myo1e A T 9: 70,249,408 (GRCm39) I503F possibly damaging Het
Myo3b T A 2: 69,935,769 (GRCm39) C61S probably benign Het
Myorg A T 4: 41,498,912 (GRCm39) N239K probably benign Het
Nf1 A T 11: 79,309,400 (GRCm39) K438M possibly damaging Het
Nlrp9c A G 7: 26,077,437 (GRCm39) S727P possibly damaging Het
Nmbr C T 10: 14,646,139 (GRCm39) Q338* probably null Het
Nt5e A G 9: 88,249,385 (GRCm39) S440G possibly damaging Het
Nubp2 T C 17: 25,103,445 (GRCm39) E144G probably damaging Het
Or12e7 T C 2: 87,288,381 (GRCm39) F291L probably benign Het
Or2ag1b A G 7: 106,288,462 (GRCm39) Y159H probably benign Het
Or52s1 G A 7: 102,861,933 (GRCm39) V289M possibly damaging Het
Otogl T A 10: 107,642,557 (GRCm39) N1291I probably damaging Het
Pa2g4 T C 10: 128,399,511 (GRCm39) K51R probably benign Het
Pcdhb12 A G 18: 37,569,780 (GRCm39) I309V probably benign Het
Pck1 T G 2: 172,998,861 (GRCm39) I373S possibly damaging Het
Pga5 A G 19: 10,646,817 (GRCm39) Y305H probably damaging Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Ppfia4 T C 1: 134,256,927 (GRCm39) E98G possibly damaging Het
Rab39 G A 9: 53,617,330 (GRCm39) T29I probably damaging Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Rasa2 A T 9: 96,450,460 (GRCm39) D479E probably damaging Het
Rbl2 A T 8: 91,833,135 (GRCm39) T689S probably damaging Het
Rims4 C T 2: 163,705,945 (GRCm39) V230M probably benign Het
Skp2 A C 15: 9,127,971 (GRCm39) probably null Het
Slc35f4 A T 14: 49,541,713 (GRCm39) I347N possibly damaging Het
Slc4a2 A T 5: 24,641,272 (GRCm39) probably null Het
Slc52a3 T C 2: 151,850,076 (GRCm39) *461Q probably null Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Susd5 A G 9: 113,925,977 (GRCm39) *620W probably null Het
Timm21 T C 18: 84,965,791 (GRCm39) N239S probably damaging Het
Tmem63c T C 12: 87,122,413 (GRCm39) W404R probably damaging Het
Tnrc6b A G 15: 80,772,065 (GRCm39) D1118G probably damaging Het
Traf2 G C 2: 25,427,138 (GRCm39) A71G possibly damaging Het
Trim54 A G 5: 31,291,463 (GRCm39) M195V probably benign Het
Trip11 C T 12: 101,850,987 (GRCm39) E741K probably damaging Het
Trp73 AGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTG 4: 154,146,981 (GRCm39) probably benign Het
Trpm5 G T 7: 142,636,695 (GRCm39) T414N probably damaging Het
Vps51 G T 19: 6,121,467 (GRCm39) S185* probably null Het
Zfp329 G T 7: 12,544,756 (GRCm39) T256K probably damaging Het
Zfp729b A G 13: 67,740,022 (GRCm39) Y748H probably damaging Het
Zfp777 T C 6: 48,001,903 (GRCm39) E773G probably damaging Het
Other mutations in Rars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Rars2 APN 4 34,657,219 (GRCm39) missense probably damaging 1.00
IGL02143:Rars2 APN 4 34,623,404 (GRCm39) splice site probably benign
IGL02378:Rars2 APN 4 34,656,199 (GRCm39) missense possibly damaging 0.51
IGL03035:Rars2 APN 4 34,656,865 (GRCm39) critical splice donor site probably null
IGL03148:Rars2 APN 4 34,650,243 (GRCm39) missense possibly damaging 0.82
R0238:Rars2 UTSW 4 34,645,838 (GRCm39) missense probably damaging 1.00
R0238:Rars2 UTSW 4 34,656,030 (GRCm39) missense probably benign 0.00
R0238:Rars2 UTSW 4 34,645,838 (GRCm39) missense probably damaging 1.00
R0671:Rars2 UTSW 4 34,630,505 (GRCm39) nonsense probably null
R0967:Rars2 UTSW 4 34,646,587 (GRCm39) missense probably benign 0.01
R2276:Rars2 UTSW 4 34,656,835 (GRCm39) missense probably damaging 0.96
R3726:Rars2 UTSW 4 34,645,787 (GRCm39) missense probably benign
R4642:Rars2 UTSW 4 34,656,229 (GRCm39) missense probably damaging 1.00
R5144:Rars2 UTSW 4 34,656,793 (GRCm39) missense probably benign 0.00
R5714:Rars2 UTSW 4 34,645,779 (GRCm39) missense probably benign 0.00
R5919:Rars2 UTSW 4 34,657,232 (GRCm39) missense probably damaging 0.98
R5946:Rars2 UTSW 4 34,656,855 (GRCm39) missense possibly damaging 0.46
R7200:Rars2 UTSW 4 34,645,747 (GRCm39) missense probably benign 0.01
R8049:Rars2 UTSW 4 34,650,217 (GRCm39) missense probably benign 0.01
R8202:Rars2 UTSW 4 34,656,180 (GRCm39) missense probably damaging 1.00
R8558:Rars2 UTSW 4 34,657,199 (GRCm39) missense probably damaging 0.98
R8772:Rars2 UTSW 4 34,623,488 (GRCm39) missense probably benign 0.03
R9401:Rars2 UTSW 4 34,654,819 (GRCm39) missense probably damaging 1.00
R9553:Rars2 UTSW 4 34,637,014 (GRCm39) missense probably damaging 1.00
R9705:Rars2 UTSW 4 34,646,561 (GRCm39) missense possibly damaging 0.83
X0011:Rars2 UTSW 4 34,652,176 (GRCm39) missense probably benign
Predicted Primers
Posted On 2013-08-19