Mutagenetix > Incidental Mutations

Incidental Mutation 'R2071:Tars2'

227117

Institutional Source

Beutler Lab

Gene Symbol

Tars2

Ensembl Gene

ENSMUSG00000028107

Gene Name

threonyl-tRNA synthetase 2, mitochondrial (putative)

Synonyms

Tarsl1, 2610024N01Rik

MMRRC Submission

040076-MU

Accession Numbers

Genbank: NM_027931.3, NM_001163617.1, NM_001163618.1, NM_001163619.1; Ensembl: ENSMUST00000029752, ENSMUST00000074339 , ENSMUST00000098857, ENSMUST00000163530

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R2071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95739976-95760206 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95747638 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 113 (G113C)

Ref Sequence

ENSEMBL: ENSMUSP00000143271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000074339] [ENSMUST00000098857] [ENSMUST00000163530] [ENSMUST00000195929] [ENSMUST00000196077] [ENSMUST00000196868] [ENSMUST00000197720] [ENSMUST00000198289] [ENSMUST00000199464] [ENSMUST00000199570]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029752
AA Change: G352C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: G352C

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	5.6e-14	PFAM
tRNA_SAD	233	282	1.15e-10	SMART
Pfam:tRNA-synt_2b	400	608	2.4e-32	PFAM
Pfam:HGTP_anticodon	620	711	1.5e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000074339
AA Change: G352C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: G352C

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	1.3e-15	PFAM
tRNA_SAD	233	282	1.15e-10	SMART
Pfam:tRNA-synt_2b	336	519	2.8e-39	PFAM
Pfam:HGTP_anticodon	594	685	5.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098857

SMART Domains

Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	6.7e-16	PFAM
tRNA_SAD	233	282	1.15e-10	SMART
SCOP:d1atia2	332	417	2e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163530
AA Change: G271C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: G271C

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	2.6e-15	PFAM
tRNA_SAD	152	201	1.15e-10	SMART
Pfam:tRNA-synt_2b	255	438	8.6e-40	PFAM
Pfam:HGTP_anticodon	539	630	1.6e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195929
AA Change: G64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143757
Gene: ENSMUSG00000028107
AA Change: G64C

Domain	Start	End	E-Value	Type
Pfam:tRNA_SAD	1	28	3.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196077

SMART Domains

Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	65	125	5e-13	PFAM
tRNA_SAD	232	264	7.5e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196475

Predicted Effect

probably benign
Transcript: ENSMUST00000196868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197389

Predicted Effect

probably benign
Transcript: ENSMUST00000197720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198194

Predicted Effect

probably damaging
Transcript: ENSMUST00000198289
AA Change: G113C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143271
Gene: ENSMUSG00000028107
AA Change: G113C

Domain	Start	End	E-Value	Type
tRNA_SAD	2	43	2.6e-8	SMART
Pfam:tRNA-synt_2b	97	142	6.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199464

SMART Domains

Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	1.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199570

SMART Domains

Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	1.5e-13	PFAM
tRNA_SAD	152	201	8.5e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

Allele List at MGI

All alleles(20) : Targeted, other(2) Gene trapped(18)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,383,315	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,876,769	K31E	probably damaging	Het
Abcc10	G	C	17: 46,303,565	N1477K	probably benign	Het
Adam33	T	C	2: 131,055,346	T310A	probably benign	Het
Afm	A	G	5: 90,523,735	D92G	probably benign	Het
Arg1	C	T	10: 24,922,663	A30T	probably benign	Het
Ash1l	C	G	3: 88,966,203	P98A	probably damaging	Het
Atad5	A	T	11: 80,098,052		probably null	Het
Atg2a	T	C	19: 6,257,458	V1474A	probably benign	Het
Atp12a	A	G	14: 56,366,009	K24E	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
B3gnt4	A	T	5: 123,511,370	H266L	probably benign	Het
Bora	T	C	14: 99,062,278	S229P	probably damaging	Het
C87414	T	G	5: 93,636,516	Q363P	probably damaging	Het
Cdsn	A	T	17: 35,554,694	D40V	probably damaging	Het
Cep295	T	C	9: 15,341,564	R323G	probably damaging	Het
Chek2	T	C	5: 110,841,246		probably benign	Het
Chga	A	T	12: 102,562,863	K366N	probably damaging	Het
Chrm5	T	C	2: 112,479,227	K515E	probably null	Het
Cmtr1	A	G	17: 29,694,783		probably null	Het
Cyr61	C	T	3: 145,648,673	W161*	probably null	Het
Dsg3	T	C	18: 20,536,825	L632S	probably damaging	Het
Fam129a	T	C	1: 151,636,430	F28L	probably damaging	Het
Fzd3	A	G	14: 65,235,563	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,421,949	K846E	probably benign	Het
Gm21761	A	T	13: 119,912,300	D151E	probably benign	Het
Gm8300	T	A	12: 87,517,052	F52L	probably benign	Het
Gpatch11	T	C	17: 78,841,085		probably null	Het
Gucy2g	T	A	19: 55,222,340	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,057,302	F72L	probably benign	Het
Kat14	T	C	2: 144,389,216	L181P	probably damaging	Het
Kifc3	A	T	8: 95,108,353		probably null	Het
Kntc1	G	T	5: 123,794,277		probably null	Het
Man2b1	G	T	8: 85,085,384	V156L	possibly damaging	Het
Mast1	T	C	8: 84,921,194	D517G	probably damaging	Het
Mc1r	T	C	8: 123,408,369	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,759,724	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725	I52N	probably damaging	Het
Morc1	C	T	16: 48,592,611	T705I	probably benign	Het
Mrpl24	T	C	3: 87,923,067		probably null	Het
Nap1l1	C	T	10: 111,492,900	T230I	possibly damaging	Het
Nmral1	T	A	16: 4,716,347	I77F	probably damaging	Het
Nudt13	T	A	14: 20,303,977	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983	L262P	probably benign	Het
Pde10a	A	T	17: 8,961,995	I754F	probably benign	Het
Pdzph1	T	C	17: 58,974,097	R397G	probably benign	Het
Polr1a	T	A	6: 71,976,074	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076	V19A	probably benign	Het
Pth1r	A	G	9: 110,727,013	I264T	probably benign	Het
Ptprn	C	A	1: 75,255,144	G504C	probably damaging	Het
Rbak	A	G	5: 143,176,584	L8P	probably damaging	Het
Rev3l	T	A	10: 39,824,353	D1615E	probably benign	Het
Rhob	A	G	12: 8,499,232	M134T	probably benign	Het
Slc10a4	T	C	5: 73,007,497	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,977,632	L131P	probably damaging	Het
Slf1	T	A	13: 77,104,624	E259D	probably benign	Het
Slitrk5	A	G	14: 111,680,189	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,207,622	I343V	probably benign	Het
Sorl1	T	C	9: 41,979,457	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,940,464	I243N	possibly damaging	Het
Specc1	A	C	11: 62,117,875	K152N	probably damaging	Het
Sv2a	G	A	3: 96,193,875	A730T	possibly damaging	Het
Tep1	T	C	14: 50,854,282	K601E	probably benign	Het
Tmem8	T	C	17: 26,122,043	Y176H	probably damaging	Het
Trp53	A	G	11: 69,589,632	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,216,601	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,128,261	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,372,469	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894		probably null	Het
Vmn1r201	T	C	13: 22,474,825	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,072,202	V273I	probably benign	Het
Vmn2r103	A	T	17: 19,793,794	I283L	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfp408	A	G	2: 91,646,018	F364L	probably damaging	Het
Zfyve26	A	G	12: 79,287,446	L266P	possibly damaging	Het

Other mutations in Tars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01604:Tars2	APN	3	95740278	missense	probably damaging	1.00
IGL02523:Tars2	APN	3	95741393	missense	probably damaging	1.00
IGL02709:Tars2	APN	3	95742071	splice site	probably benign
IGL03286:Tars2	APN	3	95754755	splice site	probably benign
IGL03348:Tars2	APN	3	95740268	unclassified	probably null
B6584:Tars2	UTSW	3	95742150	unclassified	probably null
R0548:Tars2	UTSW	3	95742659	missense	probably damaging	1.00
R0657:Tars2	UTSW	3	95748557	missense	probably benign	0.00
R1955:Tars2	UTSW	3	95747454	missense	probably damaging	1.00
R2070:Tars2	UTSW	3	95747638	missense	probably damaging	1.00
R3025:Tars2	UTSW	3	95747640	missense	possibly damaging	0.71
R3962:Tars2	UTSW	3	95754756	critical splice donor site	probably null
R4676:Tars2	UTSW	3	95753091	missense	probably damaging	1.00
R4775:Tars2	UTSW	3	95746647	missense	probably damaging	1.00
R5208:Tars2	UTSW	3	95747593	missense	probably damaging	1.00
R5512:Tars2	UTSW	3	95750416	missense	probably damaging	1.00
R5894:Tars2	UTSW	3	95747652	unclassified	probably null
R5965:Tars2	UTSW	3	95748152	splice site	probably null
R6381:Tars2	UTSW	3	95754487	nonsense	probably null
R6953:Tars2	UTSW	3	95753114	missense	possibly damaging	0.63
R7042:Tars2	UTSW	3	95750745	missense	probably benign	0.00
R7648:Tars2	UTSW	3	95750982	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CATTTGGTGACCGTATCCCAG -3'
(R):5'- TACTTGGAAGCAGCCTAGGG -3'

Sequencing Primer
(F):5'- AACTCACCAGTGTGCAGG -3'
(R):5'- CAGCCTAGGGAGTTGGTCAG -3'

Posted On

2014-09-17