Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4810001:Cars2'

556848

Institutional Source

Beutler Lab

Gene Symbol

Cars2

Ensembl Gene

ENSMUSG00000056228

Gene Name

cysteinyl-tRNA synthetase 2, mitochondrial

Synonyms

2410044A07Rik, 2310051N18Rik, D530030H10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

PIT4810001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11564017-11600781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11564699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 459 (C459S)

Ref Sequence

ENSEMBL: ENSMUSP00000046453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033901] [ENSMUST00000049461] [ENSMUST00000177955] [ENSMUST00000178721] [ENSMUST00000178817] [ENSMUST00000210478] [ENSMUST00000211395]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033901

SMART Domains

Protein: ENSMUSP00000033901
Gene: ENSMUSG00000031505

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Pfam:Carb_kinase	94	356	6.2e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049461
AA Change: C459S

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

SMART Domains

Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228
AA Change: C459S

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: ENSMUST00000177955

SMART Domains

Protein: ENSMUSP00000136363
Gene: ENSMUSG00000031505

Domain	Start	End	E-Value	Type
Pfam:Carb_kinase	56	319	2.5e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178721

SMART Domains

Protein: ENSMUSP00000136535
Gene: ENSMUSG00000031505

Domain	Start	End	E-Value	Type
Pfam:Carb_kinase	56	242	1.4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178817

SMART Domains

Protein: ENSMUSP00000137488
Gene: ENSMUSG00000031505

Domain	Start	End	E-Value	Type
Pfam:Carb_kinase	56	79	1.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210478

Predicted Effect

probably benign
Transcript: ENSMUST00000211395
AA Change: C14S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 93.8%
3x: 91.1%
10x: 85.1%
20x: 72.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,822 (GRCm39)	S105P	probably damaging	Het
Adtrp	C	T	13: 41,981,724 (GRCm39)	W48*	probably null	Het
Agxt2	A	T	15: 10,399,151 (GRCm39)	M413L	probably benign	Het
Ahnak2	T	A	12: 112,749,214 (GRCm39)	D211V		Het
Aplnr	T	A	2: 84,967,628 (GRCm39)	C218S	probably damaging	Het
Arhgdib	T	A	6: 136,901,162 (GRCm39)	E189V	probably damaging	Het
Atp10a	T	C	7: 58,463,596 (GRCm39)	I1043T	probably damaging	Het
Atp13a5	C	T	16: 29,133,382 (GRCm39)	C468Y	probably damaging	Het
Ccr3	T	A	9: 123,829,645 (GRCm39)	Y327N	probably benign	Het
Ceacam1	T	A	7: 25,171,400 (GRCm39)	I355F	probably damaging	Het
Celsr3	T	C	9: 108,722,932 (GRCm39)	L2773P	probably damaging	Het
Ces2g	A	T	8: 105,691,521 (GRCm39)	H192L	possibly damaging	Het
Cfap157	A	G	2: 32,671,444 (GRCm39)	F121L	probably damaging	Het
Champ1	G	A	8: 13,929,234 (GRCm39)	S464N	probably benign	Het
Clasp2	T	A	9: 113,735,135 (GRCm39)	L990Q	probably damaging	Het
Col6a3	A	T	1: 90,706,516 (GRCm39)	L2806Q	unknown	Het
Cpz	T	C	5: 35,665,536 (GRCm39)	E435G	possibly damaging	Het
Crbn	T	A	6: 106,761,440 (GRCm39)	R233*	probably null	Het
Ctc1	C	T	11: 68,913,352 (GRCm39)	T116I	probably benign	Het
Cyp4f17	T	C	17: 32,743,574 (GRCm39)	S314P	possibly damaging	Het
Dmxl1	A	G	18: 50,065,030 (GRCm39)	E2625G	probably damaging	Het
Dock7	T	A	4: 98,833,796 (GRCm39)	R1874*	probably null	Het
E130311K13Rik	A	T	3: 63,823,122 (GRCm39)	L174*	probably null	Het
Etnppl	A	G	3: 130,414,363 (GRCm39)	D86G	probably benign	Het
Fbxw18	C	A	9: 109,505,958 (GRCm39)	E438*	probably null	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Gpr155	A	C	2: 73,178,607 (GRCm39)	L727R	probably benign	Het
Gpr158	C	G	2: 21,831,682 (GRCm39)	D927E	probably benign	Het
Igsf10	T	C	3: 59,225,903 (GRCm39)	Y2590C	probably damaging	Het
Ints7	A	G	1: 191,328,348 (GRCm39)	D207G	probably damaging	Het
Iqsec1	A	G	6: 90,647,473 (GRCm39)	L743P	probably damaging	Het
Kansl1l	A	T	1: 66,801,308 (GRCm39)	S553T	probably damaging	Het
Klhl14	G	T	18: 21,690,880 (GRCm39)	Y523*	probably null	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Lrrc3b	A	G	14: 15,358,273 (GRCm38)	V111A	probably benign	Het
Maml2	A	G	9: 13,531,320 (GRCm39)	N178S		Het
Megf8	G	A	7: 25,041,710 (GRCm39)	C1208Y	probably damaging	Het
Mocos	A	G	18: 24,819,759 (GRCm39)	D667G	probably damaging	Het
Nid2	A	G	14: 19,860,158 (GRCm39)	T1359A	possibly damaging	Het
Nup210	T	C	6: 91,007,106 (GRCm39)	E1357G	probably damaging	Het
Or2d2	A	T	7: 106,727,766 (GRCm39)	M278K	probably benign	Het
Or4a2	A	T	2: 89,248,297 (GRCm39)	H153Q	probably damaging	Het
Or9s15	T	A	1: 92,524,876 (GRCm39)	F212I	probably benign	Het
Pign	A	G	1: 105,525,487 (GRCm39)	V447A	possibly damaging	Het
Pomp	T	C	5: 147,806,229 (GRCm39)	L57P	probably benign	Het
Pou2af2	C	T	9: 51,202,992 (GRCm39)	G54D	possibly damaging	Het
Rbms3	T	A	9: 116,885,861 (GRCm39)	Y128F	probably damaging	Het
Slc12a4	A	G	8: 106,678,228 (GRCm39)	F322L	probably benign	Het
Slc16a9	T	A	10: 70,119,762 (GRCm39)	C468*	probably null	Het
Slc22a18	A	G	7: 143,046,668 (GRCm39)	I271V	probably benign	Het
Slc25a41	A	G	17: 57,346,933 (GRCm39)	V20A	possibly damaging	Het
Smim7	A	T	8: 73,324,857 (GRCm39)	L6Q	probably damaging	Het
Snx29	T	C	16: 11,218,845 (GRCm39)	V227A	probably damaging	Het
Sowaha	A	T	11: 53,369,290 (GRCm39)	L482Q	probably damaging	Het
Srp19	A	G	18: 34,467,523 (GRCm39)	Y68C	probably damaging	Het
Tecr	A	G	8: 84,298,884 (GRCm39)	S298P	probably damaging	Het
Terb2	T	A	2: 122,035,379 (GRCm39)	I200N	probably damaging	Het
Togaram1	G	A	12: 65,030,286 (GRCm39)	S1030N	probably damaging	Het
Trav7n-4	A	G	14: 53,329,193 (GRCm39)	M68V	probably benign	Het
Tshz1	A	C	18: 84,031,375 (GRCm39)	L1011R	possibly damaging	Het
Tubb3	A	G	8: 124,148,396 (GRCm39)	E443G	possibly damaging	Het
Uba5	A	T	9: 103,932,396 (GRCm39)	I189K	probably damaging	Het
Vasn	A	G	16: 4,467,909 (GRCm39)	T619A	probably benign	Het
Wbp1l	A	G	19: 46,642,761 (GRCm39)	D254G	probably benign	Het
Zzef1	T	C	11: 72,741,571 (GRCm39)	F738L	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
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
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'- AGTGTGTCACATGCCTCCAG -3'
(R):5'- GACATGGGTCAAAGTGGATTTTACC -3'

Sequencing Primer
(F):5'- GCAAGGGCTGCCTTTCCTG -3'
(R):5'- TTACCAGCTTAACGTGGGC -3'

Posted On

2019-06-07