Mutagenetix > Incidental Mutation

Incidental Mutation 'R8260:Tars2'

639979

Institutional Source

Beutler Lab

Gene Symbol

Tars2

Ensembl Gene

ENSMUSG00000028107

Gene Name

threonyl-tRNA synthetase 2, mitochondrial (putative)

Synonyms

Tarsl1, 2610024N01Rik

MMRRC Submission

067685-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R8260 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95647286-95663677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95662132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 7 (W7R)

Ref Sequence

ENSEMBL: ENSMUSP00000029752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000074339] [ENSMUST00000098857] [ENSMUST00000163530] [ENSMUST00000195929] [ENSMUST00000196077] [ENSMUST00000196868] [ENSMUST00000197501] [ENSMUST00000197720] [ENSMUST00000198289] [ENSMUST00000199464] [ENSMUST00000199570]

AlphaFold

Q3UQ84

Predicted Effect

probably damaging
Transcript: ENSMUST00000029752
AA Change: W7R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: W7R

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: W7R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: W7R

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 damaging
Transcript: ENSMUST00000098857
AA Change: W7R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107
AA Change: W7R

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

possibly damaging
Transcript: ENSMUST00000163530
AA Change: W7R

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: W7R

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 benign
Transcript: ENSMUST00000195929

SMART Domains

Protein: ENSMUSP00000143757
Gene: ENSMUSG00000028107

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196077
AA Change: W6R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107
AA Change: W6R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196868

Predicted Effect

probably damaging
Transcript: ENSMUST00000197501
AA Change: W7R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000197720
AA Change: W7R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000198289

SMART Domains

Protein: ENSMUSP00000143271
Gene: ENSMUSG00000028107

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 damaging
Transcript: ENSMUST00000199464
AA Change: W7R

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

SMART Domains

Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107
AA Change: W7R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199570
AA Change: W7R

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107
AA Change: W7R

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

Coding Region Coverage

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

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	G	C	14: 64,223,633 (GRCm39)	L48V	probably benign	Het
Acbd3	T	C	1: 180,566,095 (GRCm39)	Y263H	probably damaging	Het
Acot4	C	A	12: 84,088,809 (GRCm39)	P219Q	possibly damaging	Het
Adcy6	A	G	15: 98,498,919 (GRCm39)	F294S	probably damaging	Het
Ahcyl	T	C	16: 45,974,786 (GRCm39)	E197G	probably damaging	Het
Aplf	T	C	6: 87,606,987 (GRCm39)	R476G	probably benign	Het
Arid1b	A	G	17: 5,382,788 (GRCm39)	T1292A	probably benign	Het
Atp2c1	T	A	9: 105,295,778 (GRCm39)	I649F	probably damaging	Het
Bbs10	C	T	10: 111,136,104 (GRCm39)	Q406*	probably null	Het
Bcas3	T	A	11: 85,400,372 (GRCm39)	M447K	possibly damaging	Het
Bmal1	A	T	7: 112,884,258 (GRCm39)	I92F	probably damaging	Het
Cars1	T	C	7: 143,139,446 (GRCm39)	D214G	probably benign	Het
Ccdc88a	A	T	11: 29,443,934 (GRCm39)	I1410F	probably benign	Het
Cd55b	A	T	1: 130,316,415 (GRCm39)	L378H	probably damaging	Het
Cdh1	G	A	8: 107,330,979 (GRCm39)	E37K	probably benign	Het
Cep72	T	C	13: 74,206,465 (GRCm39)	Y119C	probably damaging	Het
Ctnnd2	A	G	15: 30,634,879 (GRCm39)	T176A	possibly damaging	Het
D630045J12Rik	T	A	6: 38,119,846 (GRCm39)		probably null	Het
Ddi1	A	T	9: 6,265,524 (GRCm39)	C282S	probably damaging	Het
Ddit4	T	C	10: 59,787,277 (GRCm39)	T20A	probably benign	Het
Dpp10	T	A	1: 123,614,024 (GRCm39)	T102S	probably benign	Het
Ep400	T	A	5: 110,903,478 (GRCm39)	K374*	probably null	Het
Epha3	A	G	16: 63,403,917 (GRCm39)	L728P	probably damaging	Het
Fbxw21	C	A	9: 108,975,614 (GRCm39)		probably null	Het
Frmpd1	A	G	4: 45,244,638 (GRCm39)	E109G	probably damaging	Het
Ggt1	C	T	10: 75,417,245 (GRCm39)	P332L	probably damaging	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Gm5431	A	T	11: 48,785,556 (GRCm39)	I273K	probably benign	Het
Gon4l	A	G	3: 88,799,937 (GRCm39)	N861D	probably damaging	Het
Grm5	T	C	7: 87,724,340 (GRCm39)		probably null	Het
Helt	T	C	8: 46,745,745 (GRCm39)	N84S	possibly damaging	Het
Hnrnpa0	G	T	13: 58,275,228 (GRCm39)	Y300*	probably null	Het
Ints1	T	C	5: 139,750,968 (GRCm39)	T810A		Het
Irf2bp1	C	T	7: 18,740,079 (GRCm39)	A573V	possibly damaging	Het
Itgbl1	C	A	14: 124,065,246 (GRCm39)	D133E	probably benign	Het
Kctd15	A	G	7: 34,344,267 (GRCm39)	F128S	possibly damaging	Het
Klra17	T	A	6: 129,808,421 (GRCm39)	N271Y	probably damaging	Het
Kmt2c	T	A	5: 25,610,514 (GRCm39)	E197D	possibly damaging	Het
Larp1	C	A	11: 57,949,515 (GRCm39)	T1048K	probably benign	Het
Macf1	A	G	4: 123,365,863 (GRCm39)	V2966A	probably benign	Het
Magi3	A	G	3: 103,922,625 (GRCm39)	L1364P	probably benign	Het
Malrd1	T	C	2: 15,619,017 (GRCm39)	S294P		Het
Med13l	C	T	5: 118,886,794 (GRCm39)	T1565I	possibly damaging	Het
Mov10l1	A	G	15: 88,896,313 (GRCm39)	D719G	probably benign	Het
Mtcl3	T	A	10: 29,024,270 (GRCm39)	H395Q	possibly damaging	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Myh14	T	C	7: 44,264,800 (GRCm39)	E1654G	probably damaging	Het
Myo1c	C	T	11: 75,546,942 (GRCm39)		probably benign	Het
Myo9a	A	G	9: 59,817,961 (GRCm39)	T2343A	probably benign	Het
Or1j12	A	G	2: 36,342,897 (GRCm39)	Q100R	probably damaging	Het
Or2ag18	A	T	7: 106,405,234 (GRCm39)	V145E	possibly damaging	Het
Or2d2b	A	T	7: 106,706,062 (GRCm39)	M2K	probably benign	Het
Or4m1	T	C	14: 50,557,615 (GRCm39)	K226E	probably benign	Het
Or52m2	T	A	7: 102,263,432 (GRCm39)	I255F	possibly damaging	Het
Or52n5	T	A	7: 104,587,879 (GRCm39)	Y49N	probably damaging	Het
Or6c2	T	A	10: 129,362,957 (GRCm39)	I287N	possibly damaging	Het
Or8k53	T	A	2: 86,177,276 (GRCm39)	Y278F	possibly damaging	Het
Or9g3	A	T	2: 85,589,820 (GRCm39)	L300Q	probably damaging	Het
Osmr	A	T	15: 6,844,897 (GRCm39)	D957E	probably benign	Het
Pappa	T	A	4: 65,234,419 (GRCm39)	V1408E	probably damaging	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Pdcd6ip	A	T	9: 113,501,865 (GRCm39)	D464E	probably benign	Het
Pde1c	T	C	6: 56,114,404 (GRCm39)	Y503C	probably benign	Het
Potefam3d	A	T	8: 69,972,400 (GRCm39)	D116E	possibly damaging	Het
Prob1	T	A	18: 35,787,210 (GRCm39)	E348V	possibly damaging	Het
Rnls	A	G	19: 33,180,048 (GRCm39)	L134S	probably damaging	Het
Scrn3	T	C	2: 73,166,202 (GRCm39)	Y412H	probably damaging	Het
Serpina3g	T	C	12: 104,205,362 (GRCm39)	S34P	probably benign	Het
Sertad3	G	A	7: 27,175,784 (GRCm39)	A73T	probably benign	Het
Sez6l	C	T	5: 112,609,122 (GRCm39)	A576T	probably benign	Het
Sh3tc2	G	A	18: 62,146,137 (GRCm39)	R1172H	probably damaging	Het
Sirt3	A	G	7: 140,456,319 (GRCm39)	V110A		Het
Smpd3	A	T	8: 106,984,047 (GRCm39)	D557E	probably benign	Het
Sptssb	A	T	3: 69,728,305 (GRCm39)	M44K	probably damaging	Het
Tbc1d9b	A	G	11: 50,055,013 (GRCm39)	D964G	probably benign	Het
Tiam2	A	T	17: 3,568,594 (GRCm39)	D1580V	possibly damaging	Het
Tmeff2	T	A	1: 50,977,478 (GRCm39)	V130D	probably damaging	Het
Top2a	T	A	11: 98,891,595 (GRCm39)	E1176V	probably null	Het
Trappc9	C	A	15: 72,813,758 (GRCm39)	E680*	probably null	Het
Trip10	A	G	17: 57,564,314 (GRCm39)	N355S	probably benign	Het
Ttn	T	C	2: 76,596,337 (GRCm39)	E20192G	probably damaging	Het
Vmn2r96	A	G	17: 18,804,243 (GRCm39)	M306V	probably benign	Het
Wdr90	A	T	17: 26,064,141 (GRCm39)	H1860Q	probably damaging	Het
Wrnip1	A	G	13: 32,989,339 (GRCm39)	I276V	possibly damaging	Het
Zfp608	T	C	18: 55,030,821 (GRCm39)	K1040E	possibly damaging	Het
Zfp808	T	A	13: 62,320,552 (GRCm39)	C594S	probably benign	Het

Other mutations in Tars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01604:Tars2	APN	3	95,647,590 (GRCm39)	missense	probably damaging	1.00
IGL02523:Tars2	APN	3	95,648,705 (GRCm39)	missense	probably damaging	1.00
IGL02709:Tars2	APN	3	95,649,383 (GRCm39)	splice site	probably benign
IGL03286:Tars2	APN	3	95,662,067 (GRCm39)	splice site	probably benign
IGL03348:Tars2	APN	3	95,647,580 (GRCm39)	splice site	probably null
B6584:Tars2	UTSW	3	95,649,462 (GRCm39)	splice site	probably null
R0548:Tars2	UTSW	3	95,649,971 (GRCm39)	missense	probably damaging	1.00
R0657:Tars2	UTSW	3	95,655,869 (GRCm39)	missense	probably benign	0.00
R1955:Tars2	UTSW	3	95,654,766 (GRCm39)	missense	probably damaging	1.00
R2070:Tars2	UTSW	3	95,654,950 (GRCm39)	missense	probably damaging	1.00
R2071:Tars2	UTSW	3	95,654,950 (GRCm39)	missense	probably damaging	1.00
R3025:Tars2	UTSW	3	95,654,952 (GRCm39)	missense	possibly damaging	0.71
R3962:Tars2	UTSW	3	95,662,068 (GRCm39)	critical splice donor site	probably null
R4676:Tars2	UTSW	3	95,660,403 (GRCm39)	missense	probably damaging	1.00
R4775:Tars2	UTSW	3	95,653,959 (GRCm39)	missense	probably damaging	1.00
R5208:Tars2	UTSW	3	95,654,905 (GRCm39)	missense	probably damaging	1.00
R5512:Tars2	UTSW	3	95,657,728 (GRCm39)	missense	probably damaging	1.00
R5894:Tars2	UTSW	3	95,654,964 (GRCm39)	splice site	probably null
R5965:Tars2	UTSW	3	95,655,464 (GRCm39)	splice site	probably null
R6381:Tars2	UTSW	3	95,661,799 (GRCm39)	nonsense	probably null
R6953:Tars2	UTSW	3	95,660,426 (GRCm39)	missense	possibly damaging	0.63
R7042:Tars2	UTSW	3	95,658,057 (GRCm39)	missense	probably benign	0.00
R7648:Tars2	UTSW	3	95,658,294 (GRCm39)	missense	probably benign	0.26
R7877:Tars2	UTSW	3	95,653,401 (GRCm39)	missense	probably damaging	0.99
R7946:Tars2	UTSW	3	95,657,693 (GRCm39)	missense	probably damaging	0.99
R8021:Tars2	UTSW	3	95,654,826 (GRCm39)	missense	probably benign
R8310:Tars2	UTSW	3	95,658,271 (GRCm39)	missense	probably benign	0.02
R8681:Tars2	UTSW	3	95,658,199 (GRCm39)	nonsense	probably null
R8697:Tars2	UTSW	3	95,653,374 (GRCm39)	missense	possibly damaging	0.75
R8756:Tars2	UTSW	3	95,648,672 (GRCm39)	missense	probably benign	0.32
R9498:Tars2	UTSW	3	95,647,553 (GRCm39)	missense	probably damaging	1.00
R9653:Tars2	UTSW	3	95,655,379 (GRCm39)	missense	probably damaging	1.00
R9746:Tars2	UTSW	3	95,662,077 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- TTCAAAGGAACCGCACATTTCC -3'
(R):5'- GTGCAACAGCTTCCACTTTC -3'

Sequencing Primer
(F):5'- GAACCGCACATTTCCGAGTG -3'
(R):5'- AACCTTTCCCAGAGCGGCTG -3'

Posted On

2020-07-28