Incidental Mutation 'IGL02378:Rars2'
ID291213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rars2
Ensembl Gene ENSMUSG00000028292
Gene Namearginyl-tRNA synthetase 2, mitochondrial
Synonyms1500002I10Rik, Rarsl, PRO1992
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.881) question?
Stock #IGL02378
Quality Score
Status
Chromosome4
Chromosomal Location34614957-34660167 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 34656199 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 451 (R451H)
Ref Sequence ENSEMBL: ENSMUSP00000029968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029968]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029968
AA Change: R451H

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292
AA Change: R451H

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
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,189,598 T414I probably benign Het
Abca8a A G 11: 110,078,815 probably benign Het
Acer2 A T 4: 86,886,254 T69S probably benign Het
Adcy2 A G 13: 68,730,292 V409A probably damaging Het
Anks3 T A 16: 4,950,762 Y239F possibly damaging Het
Arhgap42 G A 9: 9,035,583 H253Y possibly damaging Het
Asb18 A T 1: 89,992,988 L189Q probably damaging Het
C3 T C 17: 57,212,698 R1185G probably benign Het
Cdca7l T A 12: 117,872,127 V66E possibly damaging Het
Cdrt4 G T 11: 62,992,708 E79* probably null Het
Cep57 A C 9: 13,821,546 Y34* probably null Het
Cep63 A T 9: 102,596,115 probably benign Het
Clip4 T A 17: 71,837,726 I516K possibly damaging Het
Dnah10 A G 5: 124,773,067 E1551G probably damaging Het
Dysf T C 6: 84,111,905 I843T probably damaging Het
Gabra1 C A 11: 42,140,255 V283F probably damaging Het
Hcfc2 T C 10: 82,709,071 I179T possibly damaging Het
Htr2c G A X: 147,193,759 probably benign Het
Irgc1 G A 7: 24,432,075 T439I probably benign Het
Itgae T A 11: 73,118,121 L476H probably benign Het
Jarid2 A C 13: 44,914,325 K1070T probably damaging Het
Lama2 A G 10: 27,043,656 I2193T probably damaging Het
Med19 A G 2: 84,685,281 E103G probably damaging Het
Nav1 C T 1: 135,469,978 D818N probably benign Het
Nom1 G T 5: 29,451,126 E830* probably null Het
Olfr1450 A C 19: 12,954,383 S265R probably benign Het
Olfr980 T G 9: 40,006,473 T159P probably damaging Het
Orai3 G T 7: 127,770,161 R58L probably damaging Het
Osbpl8 T A 10: 111,282,145 M583K possibly damaging Het
Pik3cb A T 9: 99,062,840 M624K probably benign Het
Rgs22 A G 15: 36,103,805 L170P probably benign Het
Rps6kl1 C A 12: 85,138,674 D417Y probably damaging Het
Senp6 A G 9: 80,126,392 D106G probably damaging Het
Setx C T 2: 29,173,726 probably benign Het
Sfswap T A 5: 129,539,604 Y371N probably damaging Het
Slc24a3 C T 2: 145,518,402 R141C possibly damaging Het
Sorcs1 C T 19: 50,182,671 W926* probably null Het
Steap4 A G 5: 7,976,741 T235A probably benign Het
Tead2 T A 7: 45,218,147 probably null Het
Tll1 A T 8: 64,017,626 L921* probably null Het
Tnfrsf19 T A 14: 60,971,002 T357S probably benign Het
Tnik C A 3: 28,638,459 S825* probably null Het
Vil1 T A 1: 74,430,691 probably null Het
Vmn2r106 T C 17: 20,277,529 K483E probably damaging Het
Vwa5a G A 9: 38,733,970 M450I probably benign Het
Xirp2 C T 2: 67,513,768 P2118S probably benign Het
Other mutations in Rars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Rars2 APN 4 34657219 missense probably damaging 1.00
IGL02143:Rars2 APN 4 34623404 splice site probably benign
IGL03035:Rars2 APN 4 34656865 critical splice donor site probably null
IGL03148:Rars2 APN 4 34650243 missense possibly damaging 0.82
R0238:Rars2 UTSW 4 34645838 missense probably damaging 1.00
R0238:Rars2 UTSW 4 34656030 missense probably benign 0.00
R0238:Rars2 UTSW 4 34645838 missense probably damaging 1.00
R0238:Rars2 UTSW 4 34656030 missense probably benign 0.00
R0671:Rars2 UTSW 4 34630505 nonsense probably null
R0967:Rars2 UTSW 4 34646587 missense probably benign 0.01
R2276:Rars2 UTSW 4 34656835 missense probably damaging 0.96
R3726:Rars2 UTSW 4 34645787 missense probably benign
R4642:Rars2 UTSW 4 34656229 missense probably damaging 1.00
R5144:Rars2 UTSW 4 34656793 missense probably benign 0.00
R5714:Rars2 UTSW 4 34645779 missense probably benign 0.00
R5919:Rars2 UTSW 4 34657232 missense probably damaging 0.98
R5946:Rars2 UTSW 4 34656855 missense possibly damaging 0.46
X0011:Rars2 UTSW 4 34652176 missense probably benign
Posted On2015-04-16