Mutagenetix > Incidental Mutation

Incidental Mutation 'R7076:Cars2'

549223

Institutional Source

Beutler Lab

Gene Symbol

Cars2

Ensembl Gene

ENSMUSG00000056228

Gene Name

cysteinyl-tRNA synthetase 2, mitochondrial

Synonyms

2410044A07Rik, 2310051N18Rik, D530030H10Rik

MMRRC Submission

045171-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R7076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11564017-11600781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11579649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 270 (E270K)

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 damaging
Transcript: ENSMUST00000049461
AA Change: E270K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228
AA Change: E270K

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000210478

Predicted Effect

probably benign
Transcript: ENSMUST00000210599

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	G	8: 56,324,694 (GRCm39)	C587R	probably damaging	Het
Adgrg7	T	C	16: 56,562,769 (GRCm39)	T523A	probably damaging	Het
Arrdc3	A	T	13: 81,038,815 (GRCm39)	K259M	probably damaging	Het
Becn1	A	T	11: 101,186,150 (GRCm39)	N151K	probably benign	Het
Ccp110	C	A	7: 118,331,628 (GRCm39)	P943Q	probably damaging	Het
Ccser2	A	G	14: 36,661,786 (GRCm39)	I466T	probably benign	Het
Cd164	A	G	10: 41,399,193 (GRCm39)	E94G	probably benign	Het
Cdon	C	T	9: 35,415,446 (GRCm39)	T1228I	probably benign	Het
Cubn	C	A	2: 13,311,091 (GRCm39)	V3145L	probably benign	Het
Cubn	T	A	2: 13,311,092 (GRCm39)	K3144N	probably benign	Het
Dchs1	A	G	7: 105,411,078 (GRCm39)	V1649A	probably benign	Het
Dgka	A	T	10: 128,569,452 (GRCm39)	D153E	probably damaging	Het
Dip2b	A	G	15: 100,055,853 (GRCm39)		probably null	Het
Dnajc21	T	C	15: 10,449,717 (GRCm39)	T435A	probably benign	Het
F830016B08Rik	A	T	18: 60,433,543 (GRCm39)	I209F	probably damaging	Het
Ghdc	C	A	11: 100,660,540 (GRCm39)	S111I	possibly damaging	Het
Gm19965	T	C	1: 116,749,005 (GRCm39)	C229R		Het
Gpm6a	C	T	8: 55,490,486 (GRCm39)	T54I	probably damaging	Het
Gpr171	G	T	3: 59,005,577 (GRCm39)	A66E	probably damaging	Het
Grm7	A	G	6: 111,335,113 (GRCm39)	D508G	probably benign	Het
Has1	G	A	17: 18,064,068 (GRCm39)	R524C	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-8	A	T	12: 114,286,402 (GRCm39)	L7Q	probably damaging	Het
Ints10	A	T	8: 69,249,403 (GRCm39)	R78*	probably null	Het
Itpr1	A	G	6: 108,365,257 (GRCm39)	I903V	probably benign	Het
Lrp1	A	G	10: 127,386,052 (GRCm39)		probably null	Het
Mki67	A	G	7: 135,307,358 (GRCm39)	V132A	probably damaging	Het
Myh4	A	G	11: 67,143,999 (GRCm39)	E1123G	possibly damaging	Het
Neurog3	A	G	10: 61,969,359 (GRCm39)	T40A	probably benign	Het
Nipsnap3b	T	A	4: 53,021,095 (GRCm39)		probably null	Het
Nr4a3	G	A	4: 48,055,957 (GRCm39)	V328I	probably damaging	Het
Or11g27	T	A	14: 50,771,278 (GRCm39)	Y136*	probably null	Het
Or2d36	T	C	7: 106,747,236 (GRCm39)	F238L	probably damaging	Het
Or52u1	A	T	7: 104,237,430 (GRCm39)	S140C	probably damaging	Het
Or5af2	G	A	11: 58,707,990 (GRCm39)	R52Q	probably benign	Het
Or5b124	G	T	19: 13,611,244 (GRCm39)	M256I	possibly damaging	Het
Or5p63	A	T	7: 107,811,205 (GRCm39)	V177D	probably damaging	Het
Osbpl5	A	G	7: 143,263,577 (GRCm39)	L102P	probably benign	Het
Ppl	C	T	16: 4,917,983 (GRCm39)	R503Q	probably damaging	Het
Ppp2r2d	T	C	7: 138,478,326 (GRCm39)	M321T	possibly damaging	Het
Prex1	T	C	2: 166,475,302 (GRCm39)	Y197C	probably damaging	Het
Prss32	A	G	17: 24,072,895 (GRCm39)	D42G	possibly damaging	Het
Ralgapa1	T	C	12: 55,768,361 (GRCm39)	E1210G	possibly damaging	Het
Sdr16c5	A	G	4: 4,006,591 (GRCm39)	C234R	probably damaging	Het
Slc23a4	A	G	6: 34,933,819 (GRCm39)	S95P	probably damaging	Het
Srp14	T	C	2: 118,309,871 (GRCm39)	T29A	probably damaging	Het
Tet2	T	A	3: 133,172,784 (GRCm39)	H1826L	possibly damaging	Het
Tfr2	A	T	5: 137,581,836 (GRCm39)	Y641F	probably damaging	Het
Tmco5b	A	G	2: 113,117,766 (GRCm39)	N27D	probably damaging	Het
Tvp23a	T	C	16: 10,246,599 (GRCm39)	D62G	probably benign	Het
Usp12	A	G	5: 146,674,562 (GRCm39)	F347S	possibly damaging	Het
Zfp407	A	T	18: 84,576,601 (GRCm39)	L1504Q	probably damaging	Het
Zfp524	A	G	7: 5,020,895 (GRCm39)	D141G	possibly damaging	Het
Zfp68	A	G	5: 138,605,201 (GRCm39)	I374T	possibly damaging	Het
Zfp758	C	T	17: 22,594,137 (GRCm39)	H208Y	probably benign	Het
Zfp804b	T	C	5: 6,819,751 (GRCm39)	H1104R	probably benign	Het
Znrf2	T	A	6: 54,819,680 (GRCm39)	*75K	probably null	Het
Zzef1	T	C	11: 72,790,385 (GRCm39)	V2113A	probably benign	Het

Other mutations in Cars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GACTTCAGTCAAACTCATCTCCCAG -3'
(R):5'- AGCTTCAGCAGTTGGTTCCTG -3'

Sequencing Primer
(F):5'- AGCCCTGCCAGCAGATCTATG -3'
(R):5'- TGCCAGCCCGGTAGATC -3'

Posted On

2019-05-15