Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:Cars2'

58076

Institutional Source

Beutler Lab

Gene Symbol

Cars2

Ensembl Gene

ENSMUSG00000056228

Gene Name

cysteinyl-tRNA synthetase 2, mitochondrial

Synonyms

2410044A07Rik, 2310051N18Rik, D530030H10Rik

MMRRC Submission

038822-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R0633 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

11564017-11600781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11600511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 56 (D56G)

Ref Sequence

ENSEMBL: ENSMUSP00000148102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049461] [ENSMUST00000209676] [ENSMUST00000210478] [ENSMUST00000210599]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049461
AA Change: D56G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228
AA Change: D56G

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

noncoding transcript
Transcript: ENSMUST00000209218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209236

Predicted Effect

probably benign
Transcript: ENSMUST00000209676
AA Change: D56G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000210478
AA Change: D56G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000210599
AA Change: D56G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211406

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	A	T	9: 30,854,807 (GRCm39)	R18S	probably damaging	Het
Adgb	G	A	10: 10,267,473 (GRCm39)	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,049,970 (GRCm39)	V416A	probably damaging	Het
Alox5	C	T	6: 116,397,345 (GRCm39)	G280R	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Apbb1	C	T	7: 105,208,170 (GRCm39)	V685I	probably damaging	Het
Apc2	C	A	10: 80,143,289 (GRCm39)	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,860,198 (GRCm39)	W1170*	probably null	Het
Atat1	G	A	17: 36,212,315 (GRCm39)	R305C	probably damaging	Het
Brd8dc	A	G	18: 34,719,319 (GRCm39)	V167A	possibly damaging	Het
Ccdc202	T	G	14: 96,119,379 (GRCm39)	N45K	probably damaging	Het
Cdc42bpb	T	C	12: 111,311,989 (GRCm39)	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,979 (GRCm39)	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,381,088 (GRCm39)	L148P	probably damaging	Het
Cntn4	A	G	6: 106,656,209 (GRCm39)		probably null	Het
Cpe	G	A	8: 65,062,237 (GRCm39)	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,509,146 (GRCm39)	D19G	probably benign	Het
Ddx25	C	A	9: 35,457,268 (GRCm39)	R349L	probably damaging	Het
Depdc7	T	C	2: 104,553,226 (GRCm39)	D446G	probably benign	Het
Det1	T	A	7: 78,493,683 (GRCm39)	N107I	probably benign	Het
Dock6	A	T	9: 21,755,713 (GRCm39)	D170E	probably benign	Het
Dvl1	C	T	4: 155,942,752 (GRCm39)	L673F	probably damaging	Het
Gucy1b1	A	T	3: 81,952,767 (GRCm39)	I222K	probably benign	Het
Hfm1	T	C	5: 107,065,467 (GRCm39)	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,719,223 (GRCm39)	E310G	probably damaging	Het
Impg1	T	C	9: 80,301,437 (GRCm39)	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,275,954 (GRCm39)	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,089,479 (GRCm39)	G360D	probably benign	Het
Kif14	C	T	1: 136,455,043 (GRCm39)	R1572C	probably damaging	Het
L3mbtl3	A	T	10: 26,178,583 (GRCm39)	H568Q	unknown	Het
Lgi2	A	G	5: 52,711,802 (GRCm39)	Y173H	probably damaging	Het
Lpar5	A	C	6: 125,058,954 (GRCm39)	Y225S	probably benign	Het
Lpin3	A	G	2: 160,745,894 (GRCm39)	H675R	probably damaging	Het
Lrp2	C	A	2: 69,278,464 (GRCm39)	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,591,891 (GRCm39)	D13E	possibly damaging	Het
Map1a	T	C	2: 121,138,495 (GRCm39)	V2753A	probably damaging	Het
Mitf	C	A	6: 97,980,865 (GRCm39)	N97K	probably damaging	Het
Msh2	A	G	17: 87,980,238 (GRCm39)		probably null	Het
Msr1	T	C	8: 40,073,041 (GRCm39)	E170G	probably damaging	Het
Myrip	C	A	9: 120,217,302 (GRCm39)	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782 (GRCm38)		probably null	Het
Neto1	C	T	18: 86,422,854 (GRCm39)	R104*	probably null	Het
Nom1	A	C	5: 29,656,098 (GRCm39)	K821T	probably damaging	Het
Nrxn1	A	G	17: 91,011,609 (GRCm39)	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,307,897 (GRCm39)	I334F	probably benign	Het
Or1e23	A	G	11: 73,407,753 (GRCm39)	S91P	probably benign	Het
Or2ag1	T	C	7: 106,313,184 (GRCm39)	K235E	probably benign	Het
Or4a74	T	C	2: 89,439,718 (GRCm39)	M243V	probably benign	Het
Or5al7	T	A	2: 85,992,435 (GRCm39)	N286I	probably damaging	Het
Or5b124	T	C	19: 13,610,700 (GRCm39)	V75A	probably damaging	Het
Or8k27	C	T	2: 86,275,473 (GRCm39)	M284I	probably benign	Het
Padi4	A	G	4: 140,484,896 (GRCm39)	S322P	probably damaging	Het
Peli3	A	G	19: 4,991,810 (GRCm39)	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,743,767 (GRCm39)	S163P	probably damaging	Het
Prom2	T	C	2: 127,381,445 (GRCm39)	D227G	probably benign	Het
Ptgfr	C	T	3: 151,507,400 (GRCm39)	R321H	probably benign	Het
Resf1	A	T	6: 149,227,199 (GRCm39)	I82L	probably benign	Het
Rgs3	G	A	4: 62,544,143 (GRCm39)	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,719,853 (GRCm39)	N3T	possibly damaging	Het
Rif1	T	C	2: 52,002,575 (GRCm39)	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690 (GRCm39)	F408L	probably damaging	Het
Rtn3	T	G	19: 7,434,958 (GRCm39)	T326P	probably benign	Het
Slc18b1	A	C	10: 23,681,936 (GRCm39)	M167L	probably benign	Het
Slc22a26	A	G	19: 7,765,575 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,317 (GRCm39)	D130G	probably damaging	Het
Snap47	A	G	11: 59,319,439 (GRCm39)	V233A	probably benign	Het
Sumf1	A	C	6: 108,121,632 (GRCm39)	Y158D	probably damaging	Het
Tbc1d15	A	T	10: 115,056,215 (GRCm39)	H252Q	probably benign	Het
Thsd7b	T	C	1: 130,116,263 (GRCm39)	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 56,869,777 (GRCm39)	I56V	probably benign	Het
Ttc21b	A	G	2: 66,066,577 (GRCm39)	S359P	probably benign	Het
Ttc27	T	C	17: 75,036,972 (GRCm39)	I215T	probably benign	Het
Ttn	C	T	2: 76,554,539 (GRCm39)	V30759I	possibly damaging	Het
Vdac3	T	C	8: 23,070,404 (GRCm39)	N168S	probably damaging	Het
Wdr7	T	C	18: 63,998,371 (GRCm39)	V1106A	probably benign	Het
Wrap73	T	A	4: 154,226,948 (GRCm39)	F16Y	probably damaging	Het
Zfat	C	A	15: 68,052,652 (GRCm39)	D381Y	probably damaging	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
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
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'- ACAGTCGGTCCACAGCTATACCTG -3'
(R):5'- CGTGCCCAAATGCCTAAATATTGCC -3'

Sequencing Primer
(F):5'- GTCCACAGCTATACCTGGGAAC -3'
(R):5'- GCCTAAATATTGCCAGACTTCAGG -3'

Posted On

2013-07-11