Mutagenetix > Incidental Mutation

Incidental Mutation 'R9746:Tars2'

732096

Institutional Source

Beutler Lab

Gene Symbol

Tars2

Ensembl Gene

ENSMUSG00000028107

Gene Name

threonyl-tRNA synthetase 2, mitochondrial (putative)

Synonyms

Tarsl1, 2610024N01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9746 (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 T at 95662077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 25 (V25E)

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 benign
Transcript: ENSMUST00000029752
AA Change: V25E

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: V25E

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 benign
Transcript: ENSMUST00000074339
AA Change: V25E

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: V25E

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

possibly damaging
Transcript: ENSMUST00000098857
AA Change: V25E

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107
AA Change: V25E

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: V25E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: V25E

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

possibly damaging
Transcript: ENSMUST00000196077
AA Change: V24E

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107
AA Change: V24E

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 benign
Transcript: ENSMUST00000197501

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197720
AA Change: V25E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

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

possibly damaging
Transcript: ENSMUST00000199464
AA Change: V25E

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107
AA Change: V25E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199570
AA Change: V25E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107
AA Change: V25E

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,159,598 (GRCm39)	H307L	probably benign	Het
Acnat1	A	T	4: 49,450,652 (GRCm39)	L153H	probably damaging	Het
Actn4	A	T	7: 28,618,431 (GRCm39)	D76E	probably benign	Het
Afdn	A	C	17: 14,066,782 (GRCm39)	M640L	probably benign	Het
Angpt1	A	T	15: 42,539,837 (GRCm39)	F7L	probably benign	Het
Ap3b2	A	G	7: 81,126,092 (GRCm39)	F373S	probably damaging	Het
Armc2	T	A	10: 41,800,457 (GRCm39)	Y650F	probably damaging	Het
Atg2b	G	T	12: 105,630,197 (GRCm39)	T398K	possibly damaging	Het
Baz1a	CCATT	CCATTCATT	12: 55,021,895 (GRCm39)		probably null	Het
Capn8	G	A	1: 182,438,670 (GRCm39)		probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,637,081 (GRCm39)	N3103D	probably benign	Het
Chd9	G	A	8: 91,738,063 (GRCm39)	R1565Q	unknown	Het
Cir1	G	A	2: 73,134,152 (GRCm39)	T139I	probably damaging	Het
Cmah	T	C	13: 24,619,673 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,450,800 (GRCm39)	D2G	probably damaging	Het
Dennd4a	A	T	9: 64,801,793 (GRCm39)	T979S	probably benign	Het
Dnah11	T	A	12: 117,842,311 (GRCm39)	K4423*	probably null	Het
Dnajb4	A	G	3: 151,892,320 (GRCm39)	I171T	possibly damaging	Het
Dpm1	A	T	2: 168,072,307 (GRCm39)		probably null	Het
Dtwd1	A	G	2: 125,996,595 (GRCm39)	T27A	probably benign	Het
Ep400	C	T	5: 110,889,872 (GRCm39)	D464N	unknown	Het
Epb42	A	T	2: 120,855,091 (GRCm39)	I498N	probably benign	Het
Fhod1	A	G	8: 106,064,048 (GRCm39)	V219A	unknown	Het
Gabrb2	A	T	11: 42,517,436 (GRCm39)	E419D	probably benign	Het
Galnt18	A	T	7: 111,071,168 (GRCm39)	N615K	possibly damaging	Het
Gm29106	T	A	1: 118,127,254 (GRCm39)	H315Q	possibly damaging	Het
Gprin2	G	T	14: 33,917,615 (GRCm39)	Q52K	probably benign	Het
Grm4	A	T	17: 27,657,765 (GRCm39)	Y414N	probably damaging	Het
Gulo	C	A	14: 66,225,630 (GRCm39)		probably null	Het
H2-M1	A	C	17: 36,980,997 (GRCm39)	V313G	possibly damaging	Het
Hectd3	T	C	4: 116,852,951 (GRCm39)	W118R	probably damaging	Het
Hs6st3	G	A	14: 120,106,492 (GRCm39)	C300Y	probably damaging	Het
Il1rl2	T	A	1: 40,404,519 (GRCm39)	S547T	possibly damaging	Het
Kank1	G	T	19: 25,386,872 (GRCm39)	V182F	probably damaging	Het
Kif20b	T	A	19: 34,928,149 (GRCm39)	L1137*	probably null	Het
Klhl7	A	G	5: 24,331,818 (GRCm39)		probably null	Het
Krt13	T	A	11: 100,011,987 (GRCm39)	D112V	possibly damaging	Het
Ltbr	A	G	6: 125,290,064 (GRCm39)	V71A	probably benign	Het
Ly6g	T	C	15: 75,030,458 (GRCm39)	V92A	probably benign	Het
Map2k3	G	A	11: 60,822,929 (GRCm39)		probably benign	Het
Mast2	A	C	4: 116,168,927 (GRCm39)	D842E	probably benign	Het
Mpo	T	G	11: 87,694,349 (GRCm39)	M693R	probably benign	Het
Myo15a	C	A	11: 60,378,234 (GRCm39)	S212*	probably null	Het
Nadk2	C	T	15: 9,106,824 (GRCm39)	R37*	probably null	Het
Ncapd3	G	A	9: 26,974,655 (GRCm39)	R709H	probably benign	Het
Nck2	T	A	1: 43,572,892 (GRCm39)	Y55*	probably null	Het
Neurl4	A	G	11: 69,798,301 (GRCm39)	D777G	probably damaging	Het
Npr2	G	A	4: 43,633,527 (GRCm39)	V224M	possibly damaging	Het
Nptx2	T	A	5: 144,484,950 (GRCm39)	S148T	probably benign	Het
Nr1d1	T	C	11: 98,661,160 (GRCm39)	T369A	probably benign	Het
Nub1	T	G	5: 24,908,483 (GRCm39)	F411V	probably damaging	Het
Nup188	T	A	2: 30,194,300 (GRCm39)	Y158N	probably damaging	Het
Or2d36	A	T	7: 106,746,660 (GRCm39)	I46F	probably benign	Het
Or5e1	A	G	7: 108,354,639 (GRCm39)	N192S	probably benign	Het
Or5m8	A	G	2: 85,823,091 (GRCm39)	Y310C	probably benign	Het
Or6c6c	A	T	10: 129,541,208 (GRCm39)	I154F	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,928 (GRCm39)	I279K	unknown	Het
Orc2	C	T	1: 58,536,610 (GRCm39)	G85S	probably damaging	Het
Pak1ip1	T	A	13: 41,162,743 (GRCm39)	V182D	probably damaging	Het
Parvg	T	G	15: 84,210,424 (GRCm39)	C30W	probably benign	Het
Pcdha1	T	A	18: 37,065,713 (GRCm39)	D792E	probably benign	Het
Ppp1r13b	G	T	12: 111,800,242 (GRCm39)	Q635K	probably benign	Het
Pramel26	T	C	4: 143,536,886 (GRCm39)	T482A	probably benign	Het
Psg16	A	G	7: 16,832,086 (GRCm39)	I341V	probably benign	Het
Psme4	C	T	11: 30,826,868 (GRCm39)	Q1796*	probably null	Het
Ptn	T	G	6: 36,692,699 (GRCm39)		probably null	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rasal1	G	A	5: 120,800,358 (GRCm39)	G207D	probably damaging	Het
Rdx	A	G	9: 51,974,878 (GRCm39)	I5V	probably benign	Het
Rpf1	A	G	3: 146,223,533 (GRCm39)	I105T	probably damaging	Het
Rps15a	A	T	7: 117,709,220 (GRCm39)	F79I	possibly damaging	Het
Rwdd2b	G	A	16: 87,233,641 (GRCm39)	P153L	probably benign	Het
Scaf11	G	A	15: 96,318,298 (GRCm39)	S422L	probably damaging	Het
Serpinb3b	T	A	1: 107,082,403 (GRCm39)	E287V	possibly damaging	Het
Sgta	T	C	10: 80,887,118 (GRCm39)	D49G	possibly damaging	Het
Sin3a	T	A	9: 57,025,358 (GRCm39)	M1068K	probably benign	Het
Slc12a9	G	A	5: 137,319,671 (GRCm39)	R615W	probably damaging	Het
Slc26a3	T	A	12: 31,499,145 (GRCm39)	S151T	probably benign	Het
Slc4a8	C	A	15: 100,681,721 (GRCm39)	H111N	probably damaging	Het
Syngr1	G	A	15: 79,975,659 (GRCm39)	R22K	probably benign	Het
Tbx15	A	G	3: 99,259,647 (GRCm39)	Y506C	probably damaging	Het
Tgm4	A	T	9: 122,875,634 (GRCm39)	K162N	possibly damaging	Het
Tmem253	A	G	14: 52,255,439 (GRCm39)	E83G	probably damaging	Het
Trp73	G	A	4: 154,165,859 (GRCm39)	T118I	probably damaging	Het
Trpm7	A	G	2: 126,664,578 (GRCm39)	S934P	possibly damaging	Het
Ttc23l	G	A	15: 10,523,729 (GRCm39)	S330L	probably benign	Het
Tub	A	C	7: 108,624,845 (GRCm39)	D199A	probably benign	Het
Uri1	A	C	7: 37,696,110 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,276,120 (GRCm39)	A486V	probably benign	Het
Vmn1r12	A	G	6: 57,136,526 (GRCm39)	I208V	probably benign	Het
Vmn2r116	A	T	17: 23,620,797 (GRCm39)	M844L	probably benign	Het
Vmn2r13	C	T	5: 109,339,773 (GRCm39)		probably null	Het
Xpnpep1	T	C	19: 53,001,892 (GRCm39)	D118G	probably damaging	Het
Zfp111	G	A	7: 23,898,067 (GRCm39)	P516S	possibly damaging	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
R8260:Tars2	UTSW	3	95,662,132 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TTCCACTACTCCGGAATGGG -3'
(R):5'- CCGGAATGGCGGCTATGTTATC -3'

Sequencing Primer
(F):5'- CTCCGGAATGGGGTCGTAG -3'
(R):5'- GAATGGCGGCTATGTTATCCAATAG -3'

Posted On

2022-11-14