Mutagenetix > Incidental Mutation

Incidental Mutation 'R2153:Cars2'

234515

Institutional Source

Beutler Lab

Gene Symbol

Cars2

Ensembl Gene

ENSMUSG00000056228

Gene Name

cysteinyl-tRNA synthetase 2, mitochondrial

Synonyms

2410044A07Rik, 2310051N18Rik, D530030H10Rik

MMRRC Submission

040156-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R2153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11564017-11600781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11580299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 247 (A247T)

Ref Sequence

ENSEMBL: ENSMUSP00000046453 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049461
AA Change: A247T

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228
AA Change: A247T

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: ENSMUST00000210478

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210599
AA Change: A246T

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211406

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abcg2	T	A	6: 58,661,307 (GRCm39)		probably null	Het
Adgrg7	T	G	16: 56,572,791 (GRCm39)	I342L	possibly damaging	Het
Akap6	A	C	12: 53,188,187 (GRCm39)	D1867A	probably benign	Het
Ankrd17	A	T	5: 90,381,918 (GRCm39)	V2416D	probably damaging	Het
Apaf1	A	G	10: 90,883,952 (GRCm39)	V670A	probably damaging	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Atad5	T	A	11: 79,997,203 (GRCm39)	D842E	probably benign	Het
Brd10	T	C	19: 29,694,229 (GRCm39)	M1755V	probably benign	Het
Capns1	A	G	7: 29,891,765 (GRCm39)	L124P	probably damaging	Het
Carmil1	A	G	13: 24,325,656 (GRCm39)	S225P	probably damaging	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Ceacam14	C	A	7: 17,548,153 (GRCm39)	T81N	probably benign	Het
Ceacam16	G	A	7: 19,595,066 (GRCm39)	P4L	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntnap5c	A	T	17: 58,362,666 (GRCm39)	I340L	possibly damaging	Het
Col2a1	C	A	15: 97,885,461 (GRCm39)	A461S	unknown	Het
Comtd1	T	C	14: 21,898,340 (GRCm39)	E27G	possibly damaging	Het
Cyp2a12	A	G	7: 26,732,042 (GRCm39)	N261S	probably benign	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dlg5	A	T	14: 24,187,225 (GRCm39)	I1819N	probably damaging	Het
Elp1	T	A	4: 56,779,636 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,074,231 (GRCm39)	N772S	probably damaging	Het
Erich1	T	C	8: 14,128,773 (GRCm39)	T56A	probably benign	Het
Ermp1	T	C	19: 29,614,798 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,803,545 (GRCm39)	E807G	probably benign	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fbxw18	T	G	9: 109,522,438 (GRCm39)	T144P	probably damaging	Het
Flywch1	A	T	17: 23,974,624 (GRCm39)	I672K	probably benign	Het
Foxk2	C	A	11: 121,151,213 (GRCm39)	A86E	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gda	A	G	19: 21,374,869 (GRCm39)		probably null	Het
Gna15	T	C	10: 81,338,738 (GRCm39)	Y367C	probably damaging	Het
Golga3	A	G	5: 110,335,856 (GRCm39)		probably null	Het
Greb1	T	C	12: 16,749,533 (GRCm39)	S1098G	probably damaging	Het
Hook3	C	A	8: 26,560,225 (GRCm39)	L333F	probably damaging	Het
Il6	C	T	5: 30,218,502 (GRCm39)	Q33*	probably null	Het
Iqgap1	T	C	7: 80,401,701 (GRCm39)	E468G	probably benign	Het
Iqgap1	A	G	7: 80,409,651 (GRCm39)	I228T	possibly damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Kcnj10	A	T	1: 172,197,455 (GRCm39)	Y323F	possibly damaging	Het
Klk1b5	T	C	7: 43,869,322 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,157,951 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,443,862 (GRCm39)	T277S	possibly damaging	Het
Lrp5	A	T	19: 3,664,339 (GRCm39)	M796K	probably benign	Het
Med15	A	T	16: 17,503,315 (GRCm39)		probably null	Het
Mfn1	T	A	3: 32,596,975 (GRCm39)	H144Q	probably damaging	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Nmi	T	C	2: 51,842,555 (GRCm39)	E179G	probably damaging	Het
Nrxn2	T	C	19: 6,554,944 (GRCm39)	I1141T	probably damaging	Het
Olah	T	C	2: 3,366,306 (GRCm39)	S9G	probably benign	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or4c106	C	A	2: 88,683,128 (GRCm39)	P278H	probably damaging	Het
Or5b120	T	G	19: 13,479,852 (GRCm39)	I48M	probably damaging	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8k22	A	C	2: 86,162,872 (GRCm39)	F276C	probably damaging	Het
Otog	T	A	7: 45,952,328 (GRCm39)	C2591S	probably damaging	Het
Pdgfrb	G	T	18: 61,205,828 (GRCm39)	V605F	probably damaging	Het
Pik3cb	T	A	9: 98,983,297 (GRCm39)	K104*	probably null	Het
Plb1	T	A	5: 32,471,433 (GRCm39)	I580N	probably damaging	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Plekha7	T	A	7: 115,775,002 (GRCm39)	Y213F	probably damaging	Het
Plin5	T	C	17: 56,423,836 (GRCm39)	D33G	probably benign	Het
Pnpla2	C	A	7: 141,039,132 (GRCm39)	Q371K	probably damaging	Het
Ppm1n	A	G	7: 19,012,110 (GRCm39)	Y348H	probably damaging	Het
Ppp2r1b	T	A	9: 50,777,854 (GRCm39)	D266E	probably damaging	Het
Prss23	A	G	7: 89,159,119 (GRCm39)	S317P	probably damaging	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Pum1	G	T	4: 130,478,802 (GRCm39)	A571S	probably damaging	Het
Rexo1	G	T	10: 80,379,943 (GRCm39)	C13*	probably null	Het
Rhpn1	A	T	15: 75,576,243 (GRCm39)	M1L	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripk2	A	G	4: 16,132,775 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,530,920 (GRCm39)	Y937C	probably damaging	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Ryr2	A	G	13: 11,592,759 (GRCm39)	I4665T	possibly damaging	Het
Sbno1	C	A	5: 124,516,606 (GRCm39)	V1256F	probably benign	Het
Senp5	T	C	16: 31,787,692 (GRCm39)	I644V	probably damaging	Het
Serpinb9e	T	A	13: 33,436,961 (GRCm39)	F94I	probably damaging	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Sned1	T	A	1: 93,202,379 (GRCm39)	D674E	probably benign	Het
Sorl1	T	C	9: 41,895,788 (GRCm39)	H1789R	probably benign	Het
Sp2	T	C	11: 96,852,834 (GRCm39)	D30G	possibly damaging	Het
Stk33	T	A	7: 108,940,527 (GRCm39)	N61I	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Tbcd	A	G	11: 121,494,457 (GRCm39)	Q1006R	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,763 (GRCm39)	D623G	probably damaging	Het
Trib2	A	G	12: 15,843,830 (GRCm39)	F271L	probably damaging	Het
Ttn	A	G	2: 76,810,477 (GRCm39)	V17A	probably benign	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yeats2	T	A	16: 19,972,916 (GRCm39)	D23E	probably damaging	Het
Zan	T	A	5: 137,434,662 (GRCm39)	I2214F	unknown	Het
Zbtb40	T	C	4: 136,718,946 (GRCm39)	D917G	probably damaging	Het
Zcchc2	C	A	1: 105,949,453 (GRCm39)		probably null	Het
Zdhhc23	G	T	16: 43,794,282 (GRCm39)	Q131K	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp532	A	G	18: 65,757,998 (GRCm39)	T644A	possibly 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
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
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'- CCACTTACATGCTCTCAGGC -3'
(R):5'- ATGGAGAGAGCTGCACTGTG -3'

Sequencing Primer
(F):5'- TACCTCTCAGGGACCATGAG -3'
(R):5'- GTGGCTCCTCACTCAGCAAC -3'

Posted On

2014-10-01