Incidental Mutation 'R1954:Cars2'
ID 217565
Institutional Source Beutler Lab
Gene Symbol Cars2
Ensembl Gene ENSMUSG00000056228
Gene Name cysteinyl-tRNA synthetase 2, mitochondrial
Synonyms 2410044A07Rik, 2310051N18Rik, D530030H10Rik
MMRRC Submission 039968-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R1954 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 11564017-11600781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11600286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 68 (Y68N)
Ref Sequence ENSEMBL: ENSMUSP00000147421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049461] [ENSMUST00000209676] [ENSMUST00000210478] [ENSMUST00000210599]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000049461
AA Change: Y68N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228
AA Change: Y68N

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 damaging
Transcript: ENSMUST00000209676
AA Change: Y68N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210478
AA Change: Y68N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210599
AA Change: Y68N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211161
Meta Mutation Damage Score 0.9745 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (101/104)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T A 9: 30,822,004 (GRCm39) M478L probably benign Het
Akap8l T A 17: 32,555,710 (GRCm39) Y123F possibly damaging Het
Anapc4 T G 5: 53,003,967 (GRCm39) probably benign Het
Arap3 A G 18: 38,115,055 (GRCm39) V987A probably damaging Het
Atp2b4 T A 1: 133,667,730 (GRCm39) T105S probably damaging Het
Atp6v0d1 A G 8: 106,292,525 (GRCm39) L7P probably damaging Het
Atp6v1b2 T C 8: 69,558,555 (GRCm39) V341A possibly damaging Het
Baz2b C A 2: 59,799,087 (GRCm39) A346S probably benign Het
Brpf3 G A 17: 29,025,533 (GRCm39) S202N probably benign Het
Btnl4 T C 17: 34,691,904 (GRCm39) K233E possibly damaging Het
Capn7 A G 14: 31,082,107 (GRCm39) T438A probably damaging Het
Cbx2 G T 11: 118,919,166 (GRCm39) G244W probably damaging Het
Ccr4 A T 9: 114,321,753 (GRCm39) V104D probably damaging Het
Cdc5l T C 17: 45,737,442 (GRCm39) probably null Het
Cep170 A T 1: 176,583,950 (GRCm39) C810S probably benign Het
Cfap299 A T 5: 98,714,612 (GRCm39) probably benign Het
Clp1 T C 2: 84,554,395 (GRCm39) D258G probably damaging Het
Clstn3 T C 6: 124,436,257 (GRCm39) E164G possibly damaging Het
Col28a1 T C 6: 7,998,516 (GRCm39) E1131G probably damaging Het
Cps1 A G 1: 67,234,355 (GRCm39) D914G possibly damaging Het
Ctnnal1 C T 4: 56,817,242 (GRCm39) probably benign Het
Cyp2c38 A G 19: 39,393,131 (GRCm39) L312P probably damaging Het
Cytip T C 2: 58,038,265 (GRCm39) N99D possibly damaging Het
Dennd4a A T 9: 64,759,749 (GRCm39) T285S probably benign Het
Dhx8 A G 11: 101,644,105 (GRCm39) S842G probably damaging Het
Disp1 A T 1: 182,870,107 (GRCm39) M771K probably damaging Het
Dnah17 A G 11: 117,915,557 (GRCm39) I4326T probably damaging Het
Efcab7 T C 4: 99,757,887 (GRCm39) F345L probably damaging Het
Erc1 G T 6: 119,774,266 (GRCm39) Q230K probably damaging Het
Ern1 A T 11: 106,312,800 (GRCm39) probably benign Het
Espl1 T C 15: 102,206,823 (GRCm39) Y96H probably damaging Het
Fam135a A T 1: 24,068,683 (GRCm39) L533I probably damaging Het
Fat2 G A 11: 55,201,910 (GRCm39) T388I probably benign Het
Galnt1 T G 18: 24,404,831 (GRCm39) probably benign Het
Glmn A G 5: 107,720,243 (GRCm39) F212S probably damaging Het
Gm3604 A T 13: 62,517,025 (GRCm39) N444K probably damaging Het
Gvin-ps5 A C 7: 105,928,888 (GRCm39) D336E probably damaging Het
H1f2 T C 13: 23,923,385 (GRCm39) V185A unknown Het
H1f3 A G 13: 23,739,690 (GRCm39) probably benign Het
H2-M10.3 T C 17: 36,678,390 (GRCm39) D145G probably damaging Het
Hic2 T A 16: 17,076,857 (GRCm39) L562Q probably damaging Het
Hip1r G T 5: 124,139,907 (GRCm39) E1003D probably damaging Het
Hsfy2 C T 1: 56,676,342 (GRCm39) C65Y probably benign Het
Inpp1 T C 1: 52,833,788 (GRCm39) T103A probably damaging Het
Ints5 T C 19: 8,872,260 (GRCm39) V73A probably damaging Het
Iqch A T 9: 63,455,298 (GRCm39) D166E probably benign Het
Klhdc3 A T 17: 46,988,901 (GRCm39) N96K probably damaging Het
Klk1b8 C T 7: 43,603,272 (GRCm39) probably benign Het
Klrb1 T C 6: 128,700,036 (GRCm39) probably null Het
Krt71 C A 15: 101,643,901 (GRCm39) G446* probably null Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lemd3 G T 10: 120,814,845 (GRCm39) S129R probably damaging Het
Lrp1b A G 2: 40,748,453 (GRCm39) L3015P probably damaging Het
Mdga2 T C 12: 66,533,482 (GRCm39) probably benign Het
Mlst8 A T 17: 24,696,195 (GRCm39) I178N probably damaging Het
Mon2 A T 10: 122,874,388 (GRCm39) I320N probably damaging Het
Morc2b T C 17: 33,356,464 (GRCm39) Y436C probably damaging Het
Moxd1 T A 10: 24,155,781 (GRCm39) M295K probably benign Het
Mrps5 T A 2: 127,438,817 (GRCm39) probably null Het
Mtor C A 4: 148,552,730 (GRCm39) S744R probably damaging Het
Myo3a T A 2: 22,246,037 (GRCm39) D61E probably damaging Het
Nars1 C T 18: 64,633,635 (GRCm39) R545Q probably damaging Het
Ncoa6 A G 2: 155,248,741 (GRCm39) V1521A possibly damaging Het
Ndor1 T C 2: 25,145,305 (GRCm39) E20G possibly damaging Het
Nipsnap3b T C 4: 53,017,213 (GRCm39) probably benign Het
Notch3 G T 17: 32,385,652 (GRCm39) A39E probably benign Het
Or1j16 A G 2: 36,530,227 (GRCm39) M59V possibly damaging Het
Or2a14 T C 6: 43,130,911 (GRCm39) I224T possibly damaging Het
Or6z3 G T 7: 6,464,144 (GRCm39) W212L probably benign Het
Otud3 T C 4: 138,625,343 (GRCm39) K237R possibly damaging Het
Papola T A 12: 105,794,532 (GRCm39) probably null Het
Parl T A 16: 20,121,077 (GRCm39) M1L possibly damaging Het
Parp14 G T 16: 35,678,671 (GRCm39) N432K probably benign Het
Patz1 T G 11: 3,241,088 (GRCm39) S159A probably damaging Het
Prpf6 T G 2: 181,273,870 (GRCm39) M338R probably benign Het
Psd3 A G 8: 68,149,727 (GRCm39) L343P probably damaging Het
Ptpn23 A T 9: 110,215,393 (GRCm39) N1422K probably damaging Het
Rab19 A T 6: 39,361,016 (GRCm39) T55S probably benign Het
Sh3yl1 A G 12: 30,972,332 (GRCm39) K34E possibly damaging Het
Skint8 T A 4: 111,807,278 (GRCm39) F321L possibly damaging Het
Slc25a46 A T 18: 31,733,294 (GRCm39) probably null Het
Slc26a3 T C 12: 31,500,815 (GRCm39) L184S probably damaging Het
Slc39a10 A T 1: 46,874,334 (GRCm39) S323T possibly damaging Het
Sorbs2 G T 8: 46,198,775 (GRCm39) R20L probably benign Het
Stk32a A T 18: 43,345,090 (GRCm39) D13V probably benign Het
Tab2 T C 10: 7,795,094 (GRCm39) T463A probably damaging Het
Tenm2 T A 11: 35,938,374 (GRCm39) N1433I possibly damaging Het
Tmem200c A T 17: 69,147,956 (GRCm39) I180F probably damaging Het
Tmem232 G T 17: 65,791,482 (GRCm39) H129N probably benign Het
Tmem242 T C 17: 5,489,854 (GRCm39) T47A possibly damaging Het
Ube2d1 A T 10: 71,120,953 (GRCm39) M1K probably null Het
Ube2frt A G 12: 36,140,595 (GRCm39) probably benign Het
Uckl1 T C 2: 181,212,320 (GRCm39) Q332R probably benign Het
Unc5b T C 10: 60,605,044 (GRCm39) probably benign Het
Vmn2r114 T C 17: 23,530,086 (GRCm39) Y107C probably benign Het
Vmn2r82 A T 10: 79,231,890 (GRCm39) S630C probably damaging Het
Wdr25 T A 12: 108,864,467 (GRCm39) V204E probably damaging Het
Xab2 T A 8: 3,666,094 (GRCm39) D227V probably damaging Het
Zfp286 A G 11: 62,674,534 (GRCm39) S104P possibly damaging Het
Zfp345 T C 2: 150,316,741 (GRCm39) D22G 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
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'- GACCAACATTCCGGTGTCTCAC -3'
(R):5'- ATCTGTCCCCAATATGCTGCG -3'

Sequencing Primer
(F):5'- GGTGTCTCACAATTCCCAGAATG -3'
(R):5'- CTCACTGGCAGGAAGGAGC -3'
Posted On 2014-08-01