Incidental Mutation 'R1559:Cars2'
ID 170500
Institutional Source Beutler Lab
Gene Symbol Cars2
Ensembl Gene ENSMUSG00000056228
Gene Name cysteinyl-tRNA synthetase 2, mitochondrial
Synonyms 2410044A07Rik, 2310051N18Rik, D530030H10Rik
MMRRC Submission 039598-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R1559 (G1)
Quality Score 117
Status Validated
Chromosome 8
Chromosomal Location 11564017-11600781 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 11580430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049461] [ENSMUST00000210478] [ENSMUST00000210599]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000049461
SMART Domains Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228

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 benign
Transcript: ENSMUST00000210599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211406
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.8%
Validation Efficiency 95% (73/77)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,180 (GRCm39) W3585R probably null Het
Ajm1 G T 2: 25,467,043 (GRCm39) S956* probably null Het
Babam1 G C 8: 71,850,424 (GRCm39) E18Q probably damaging Het
Bcan G T 3: 87,901,519 (GRCm39) S394R probably damaging Het
Birc6 T A 17: 74,999,232 (GRCm39) F4653L probably damaging Het
Camsap2 A T 1: 136,209,832 (GRCm39) H559Q probably benign Het
Ccdc93 T A 1: 121,389,712 (GRCm39) probably benign Het
Ccna2 C A 3: 36,624,879 (GRCm39) probably benign Het
Cdc6 T A 11: 98,803,037 (GRCm39) L326I probably damaging Het
Cdh23 A T 10: 60,255,478 (GRCm39) probably benign Het
Cenpe T A 3: 134,976,661 (GRCm39) S2423T probably benign Het
Cftr A G 6: 18,225,936 (GRCm39) M295V probably benign Het
Cxcl2 A G 5: 91,051,871 (GRCm39) H23R probably benign Het
Cyp4a12b A G 4: 115,291,181 (GRCm39) T370A probably damaging Het
Daam2 A G 17: 49,803,148 (GRCm39) probably benign Het
Dclk3 T C 9: 111,298,276 (GRCm39) F607L probably damaging Het
Des T G 1: 75,337,230 (GRCm39) S57A probably benign Het
Drd1 A T 13: 54,206,964 (GRCm39) S410T probably damaging Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Fanci T C 7: 79,082,941 (GRCm39) L639P probably damaging Het
Fancm A G 12: 65,140,463 (GRCm39) E395G probably benign Het
Grik3 A G 4: 125,601,790 (GRCm39) D889G probably benign Het
Heyl A G 4: 123,135,192 (GRCm39) S62G probably damaging Het
Hmox1 C T 8: 75,826,577 (GRCm39) P267L probably damaging Het
Ifi213 A C 1: 173,394,784 (GRCm39) S584A probably benign Het
Il12rb2 G T 6: 67,333,576 (GRCm39) F234L probably benign Het
Il4i1 T A 7: 44,488,811 (GRCm39) S233T probably damaging Het
Itga4 A G 2: 79,146,032 (GRCm39) S745G probably benign Het
Kalrn T A 16: 33,830,918 (GRCm39) I734F possibly damaging Het
Klk1b16 T C 7: 43,790,425 (GRCm39) I200T probably benign Het
Lrrc4c T A 2: 97,461,117 (GRCm39) M581K probably benign Het
M6pr A T 6: 122,292,033 (GRCm39) I122L probably benign Het
Magi3 T C 3: 103,954,169 (GRCm39) probably benign Het
Mybpc2 T G 7: 44,163,111 (GRCm39) T480P probably benign Het
Or14c44 T C 7: 86,061,575 (GRCm39) S43P probably benign Het
Or1j17 A G 2: 36,578,770 (GRCm39) Y252C probably damaging Het
Or51ab3 A T 7: 103,201,372 (GRCm39) I127F possibly damaging Het
Or8g23 T C 9: 38,971,437 (GRCm39) N175S probably benign Het
Pcx T A 19: 4,669,114 (GRCm39) I704N probably damaging Het
Pde3a G T 6: 141,404,824 (GRCm39) A350S probably damaging Het
Ppox A T 1: 171,107,580 (GRCm39) probably benign Het
Prb1a T A 6: 132,185,507 (GRCm39) Y42F unknown Het
Rsph4a T A 10: 33,785,727 (GRCm39) V546E probably damaging Het
Saxo4 T C 19: 10,458,770 (GRCm39) T87A probably benign Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sh3tc1 A G 5: 35,860,693 (GRCm39) probably null Het
Slc22a2 T C 17: 12,803,298 (GRCm39) F44S probably damaging Het
Slco6c1 T A 1: 97,026,223 (GRCm39) D334V probably damaging Het
Smim19 T C 8: 22,953,352 (GRCm39) D105G probably damaging Het
Smpdl3a A G 10: 57,683,588 (GRCm39) T233A probably damaging Het
St8sia5 G A 18: 77,299,460 (GRCm39) probably null Het
Stk32a C A 18: 43,376,149 (GRCm39) Q73K probably benign Het
Tmem129 G T 5: 33,815,100 (GRCm39) probably null Het
Traf3ip3 A T 1: 192,860,599 (GRCm39) L441Q probably damaging Het
Ttn C T 2: 76,731,305 (GRCm39) probably benign Het
Unc45b T C 11: 82,808,672 (GRCm39) S253P possibly damaging Het
Vars2 A G 17: 35,977,150 (GRCm39) probably benign Het
Vmn2r51 C T 7: 9,836,372 (GRCm39) M136I possibly damaging Het
Vmn2r51 A G 7: 9,836,373 (GRCm39) M136T possibly damaging Het
Zfp595 T C 13: 67,465,127 (GRCm39) I379V possibly 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
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
R6089:Cars2 UTSW 8 11,580,301 (GRCm39) missense probably damaging 0.98
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'- TCACACCTGGCTTGACATTCACTG -3'
(R):5'- GTCACCTTTGCCCTGTGGAGATTG -3'

Sequencing Primer
(F):5'- ACATTCACTGGGTTTACCTGGC -3'
(R):5'- ACTCGGTCTCTCAAAAGTGG -3'
Posted On 2014-04-13