Incidental Mutation 'R6089:Cars2'
ID 484656
Institutional Source Beutler Lab
Gene Symbol Cars2
Ensembl Gene ENSMUSG00000056228
Gene Name cysteinyl-tRNA synthetase 2, mitochondrial
Synonyms 2410044A07Rik, 2310051N18Rik, D530030H10Rik
MMRRC Submission 044246-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R6089 (G1)
Quality Score 156.008
Status Not validated
Chromosome 8
Chromosomal Location 11564017-11600781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11580301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 245 (M245T)
Ref Sequence ENSEMBL: ENSMUSP00000147421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049461] [ENSMUST00000210478] [ENSMUST00000210599]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000049461
AA Change: M246T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228
AA Change: M246T

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:tRNA-synt_1e 50 351 4.1e-116 PFAM
Pfam:tRNA-synt_1g 63 207 1.5e-7 PFAM
Pfam:tRNA-synt_1g 280 370 4.2e-7 PFAM
Blast:DALR_2 391 461 3e-37 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209236
Predicted Effect probably benign
Transcript: ENSMUST00000210478
Predicted Effect probably damaging
Transcript: ENSMUST00000210599
AA Change: M245T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211406
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
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 I 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 cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for an ENU-induced allele develop induced hyperactivity followed by head bobbing and tremors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,335,132 (GRCm39) V95A probably damaging Het
Ankrd40 A T 11: 94,224,751 (GRCm39) K53N probably damaging Het
Ash1l C T 3: 88,960,450 (GRCm39) Q2338* probably null Het
Astn2 A G 4: 65,712,810 (GRCm39) F610S probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Btbd8 C T 5: 107,654,895 (GRCm39) A386V probably damaging Het
Calm4 A T 13: 3,887,874 (GRCm39) probably benign Het
Card10 T C 15: 78,686,614 (GRCm39) T68A probably benign Het
Cat C A 2: 103,303,296 (GRCm39) L160F probably null Het
Cers5 G T 15: 99,638,883 (GRCm39) T144K probably benign Het
Cyp3a13 T A 5: 137,908,215 (GRCm39) L211F probably benign Het
Defb4 A T 8: 19,251,321 (GRCm39) R63* probably null Het
Dnah14 G T 1: 181,577,719 (GRCm39) W3012L probably damaging Het
Dusp18 A G 11: 3,847,555 (GRCm39) T182A probably benign Het
Dzip1l C A 9: 99,524,737 (GRCm39) T286K possibly damaging Het
Eif2ak3 A T 6: 70,873,918 (GRCm39) T944S possibly damaging Het
Fbn1 A T 2: 125,163,145 (GRCm39) I2119N possibly damaging Het
Gabbr2 A G 4: 46,846,448 (GRCm39) S154P probably damaging Het
Gm15440 A T 13: 51,845,437 (GRCm39) H107Q unknown Het
Grm2 G A 9: 106,531,090 (GRCm39) P133L probably damaging Het
Gsdme A G 6: 50,228,285 (GRCm39) V61A probably damaging Het
Gtpbp1 A G 15: 79,591,198 (GRCm39) T23A probably benign Het
Helz A T 11: 107,485,963 (GRCm39) probably null Het
Herc1 A C 9: 66,352,814 (GRCm39) H2100P probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ifngr1 T C 10: 19,482,048 (GRCm39) S213P probably benign Het
Itgb7 T C 15: 102,125,721 (GRCm39) D636G probably benign Het
Mre11a G A 9: 14,730,760 (GRCm39) D491N probably benign Het
Muc16 A G 9: 18,554,548 (GRCm39) L3915P unknown Het
Myh1 T A 11: 67,092,993 (GRCm39) probably null Het
Myh1 T G 11: 67,111,613 (GRCm39) probably null Het
Myh7b C T 2: 155,464,409 (GRCm39) T608M probably damaging Het
Myof T C 19: 37,955,508 (GRCm39) K23E probably benign Het
Nacad A G 11: 6,551,331 (GRCm39) V620A probably benign Het
Pbrm1 T C 14: 30,809,542 (GRCm39) Y1121H probably damaging Het
Pcdha9 T C 18: 37,131,551 (GRCm39) F207L probably benign Het
Pcdhb10 T C 18: 37,546,679 (GRCm39) V585A possibly damaging Het
Pigg A T 5: 108,489,788 (GRCm39) M798L probably benign Het
Poc5 G T 13: 96,533,179 (GRCm39) M102I probably damaging Het
Ppp2r3d T A 9: 101,088,835 (GRCm39) Q496L probably benign Het
Ptprf A G 4: 118,068,281 (GRCm39) Y1752H probably damaging Het
Ptpru G C 4: 131,499,941 (GRCm39) S1244R possibly damaging Het
Rnf213 A G 11: 119,307,385 (GRCm39) K682E probably benign Het
Rtp3 T C 9: 110,816,041 (GRCm39) D170G probably benign Het
Sall4 T C 2: 168,597,406 (GRCm39) D478G possibly damaging Het
Scai A T 2: 38,973,566 (GRCm39) Y58* probably null Het
Simc1 G A 13: 54,676,303 (GRCm39) V1007M probably benign Het
Tcf20 G T 15: 82,737,409 (GRCm39) D1347E probably benign Het
Tdo2 T C 3: 81,870,035 (GRCm39) Y279C probably damaging Het
Trdn C T 10: 33,340,571 (GRCm39) P602S probably benign Het
Txndc5 A T 13: 38,707,392 (GRCm39) M1K probably null Het
Ubr2 A C 17: 47,293,218 (GRCm39) M356R possibly damaging Het
Uqcrc2 A T 7: 120,253,232 (GRCm39) D332V probably damaging Het
Usp48 T C 4: 137,333,129 (GRCm39) F108L probably damaging Het
Vill A G 9: 118,886,867 (GRCm39) N4S probably benign Het
Vmn1r11 T C 6: 57,114,645 (GRCm39) V103A possibly damaging Het
Vmn2r98 A G 17: 19,286,336 (GRCm39) D278G probably benign Het
Vps35l T G 7: 118,345,658 (GRCm39) S59A possibly damaging Het
Wfdc15a A T 2: 164,041,586 (GRCm39) L79* probably null Het
Xxylt1 C T 16: 30,899,799 (GRCm39) V119M probably damaging Het
Zfp26 G T 9: 20,348,989 (GRCm39) A525D probably damaging Het
Zgrf1 G A 3: 127,389,642 (GRCm39) G396D probably damaging Het
Zkscan16 A G 4: 58,948,889 (GRCm39) D148G possibly damaging Het
Zscan26 G T 13: 21,632,499 (GRCm39) S77R probably damaging Het
Other mutations in Cars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
madcow UTSW 8 11,576,034 (GRCm39) missense probably damaging 1.00
PIT4810001:Cars2 UTSW 8 11,564,699 (GRCm39) missense probably benign
R0633:Cars2 UTSW 8 11,600,511 (GRCm39) missense probably benign 0.00
R0788:Cars2 UTSW 8 11,579,672 (GRCm39) missense possibly damaging 0.76
R1493:Cars2 UTSW 8 11,567,817 (GRCm39) critical splice donor site probably null
R1559:Cars2 UTSW 8 11,580,430 (GRCm39) splice site probably null
R1846:Cars2 UTSW 8 11,564,674 (GRCm39) missense probably benign 0.03
R1954:Cars2 UTSW 8 11,600,286 (GRCm39) missense probably damaging 1.00
R1955:Cars2 UTSW 8 11,600,286 (GRCm39) missense probably damaging 1.00
R1993:Cars2 UTSW 8 11,564,515 (GRCm39) missense probably benign 0.03
R2062:Cars2 UTSW 8 11,597,747 (GRCm39) missense probably damaging 1.00
R2153:Cars2 UTSW 8 11,580,299 (GRCm39) missense possibly damaging 0.87
R5004:Cars2 UTSW 8 11,568,956 (GRCm39) splice site probably null
R5320:Cars2 UTSW 8 11,567,854 (GRCm39) missense probably benign 0.09
R6004:Cars2 UTSW 8 11,597,743 (GRCm39) missense probably damaging 1.00
R6265:Cars2 UTSW 8 11,579,599 (GRCm39) frame shift probably null
R6267:Cars2 UTSW 8 11,579,599 (GRCm39) frame shift probably null
R6268:Cars2 UTSW 8 11,579,599 (GRCm39) frame shift probably null
R6841:Cars2 UTSW 8 11,566,198 (GRCm39) missense probably benign 0.01
R7076:Cars2 UTSW 8 11,579,649 (GRCm39) missense probably damaging 1.00
R7586:Cars2 UTSW 8 11,580,321 (GRCm39) nonsense probably null
R8342:Cars2 UTSW 8 11,579,706 (GRCm39) missense probably damaging 1.00
R8962:Cars2 UTSW 8 11,587,304 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACCTGTTGCTGTATGGCAGG -3'
(R):5'- ACAGAGCGGATGTGCCATTG -3'

Sequencing Primer
(F):5'- AGGCATCGCTTCTGCTAGC -3'
(R):5'- CATTGTCATGGAGAGAGCTGCAC -3'
Posted On 2017-08-16