Mutagenetix > Incidental Mutation

Incidental Mutation 'R4796:Fars2'

369075

Institutional Source

Beutler Lab

Gene Symbol

Fars2

Ensembl Gene

ENSMUSG00000021420

Gene Name

phenylalanine-tRNA synthetase 2 (mitochondrial)

Synonyms

2810431B21Rik, Fars1, 6720478K01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4796 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36117412-36726280 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36537426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 448 (E448V)

Ref Sequence

ENSEMBL: ENSMUSP00000153658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021857] [ENSMUST00000099582] [ENSMUST00000224241] [ENSMUST00000224611] [ENSMUST00000224916]

AlphaFold

Q99M01

Predicted Effect

probably damaging
Transcript: ENSMUST00000021857
AA Change: E448V

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

SMART Domains

Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: E448V

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_2d	69	208	3.3e-18	PFAM
Pfam:tRNA-synt_2d	223	343	9.5e-31	PFAM
FDX-ACB	358	450	1.5e-32	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099582
AA Change: E216V

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097177
Gene: ENSMUSG00000021420
AA Change: E216V

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_2d	4	111	2.6e-33	PFAM
FDX-ACB	126	218	1.5e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223905

Predicted Effect

probably damaging
Transcript: ENSMUST00000224241
AA Change: E448V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224357

Predicted Effect

probably damaging
Transcript: ENSMUST00000224611
AA Change: E448V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225948

Meta Mutation Damage Score

0.3798

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104L09Rik	A	G	2: 148,850,738	F48S	probably damaging	Het
9930021J03Rik	G	A	19: 29,753,618	H665Y	probably benign	Het
Adgrv1	C	T	13: 81,155,231	W132*	probably null	Het
Atp8b3	A	G	10: 80,524,354	V961A	probably damaging	Het
Bglap	A	C	3: 88,384,405	I4S	unknown	Het
Bmp1	T	C	14: 70,492,073		probably null	Het
Btaf1	T	C	19: 36,956,428	L152P	possibly damaging	Het
Cacna1b	T	A	2: 24,637,487	T1621S	possibly damaging	Het
Capn3	A	T	2: 120,502,998	N621I	probably damaging	Het
Ccdc59	T	C	10: 105,841,568	S23P	probably benign	Het
Cd22	A	T	7: 30,872,956		probably null	Het
Cdh20	A	G	1: 104,941,264	D160G	probably damaging	Het
Cep112	T	C	11: 108,486,992		probably null	Het
Clock	T	C	5: 76,265,916	K44R	probably damaging	Het
Coq10b	A	G	1: 55,071,798	T242A	probably damaging	Het
Ctnnd1	G	T	2: 84,619,926	R317S	probably damaging	Het
Dlg5	G	A	14: 24,144,383	H1674Y	probably damaging	Het
Drc3	C	A	11: 60,363,528	N75K	probably damaging	Het
Efna4	T	C	3: 89,335,248	E113G	probably damaging	Het
Egr3	C	A	14: 70,077,575	A44D	probably benign	Het
Ercc3	T	C	18: 32,248,310	F393S	probably damaging	Het
Evi2	T	A	11: 79,515,447		probably benign	Het
Fam78b	T	C	1: 167,078,647	V125A	probably benign	Het
Farsb	A	T	1: 78,425,196	*590R	probably null	Het
Fat3	A	G	9: 15,999,732	M1658T	probably benign	Het
Fhod3	G	T	18: 24,985,301	V232F	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Fzd3	A	G	14: 65,235,158	V387A	possibly damaging	Het
Gm14085	T	A	2: 122,514,459	I182N	probably damaging	Het
Gm1527	A	G	3: 28,920,663	I542V	possibly damaging	Het
Gm6583	A	G	5: 112,355,299	S180P	possibly damaging	Het
Gm7964	A	G	7: 83,755,901		probably null	Het
Hbs1l	G	T	10: 21,342,506	G301C	probably damaging	Het
Hipk4	A	G	7: 27,528,570	H247R	probably benign	Het
Hmcn1	A	G	1: 150,753,611	V965A	probably benign	Het
Hoxa5	C	T	6: 52,203,963	A130T	probably benign	Het
Igf2r	C	T	17: 12,684,126	V2346I	possibly damaging	Het
Igsf8	T	C	1: 172,316,322	V14A	probably benign	Het
Impg1	G	A	9: 80,394,095	P183L	probably damaging	Het
Isl1	T	C	13: 116,305,430	N89S	probably benign	Het
Itga1	C	A	13: 115,035,385	W61C	probably damaging	Het
Itga5	T	C	15: 103,347,760	R922G	probably benign	Het
Itgb5	T	C	16: 33,885,021	V227A	possibly damaging	Het
Jph4	G	T	14: 55,109,708	P461T	probably damaging	Het
Kcnab1	T	A	3: 65,304,165		probably null	Het
Klrc1	T	A	6: 129,677,762		probably null	Het
Lonrf2	A	T	1: 38,816,038	L92Q	probably benign	Het
Ly75	T	C	2: 60,349,940	E631G	probably benign	Het
Mapk13	T	C	17: 28,775,554	Y140H	probably damaging	Het
Mgat4d	A	G	8: 83,358,120	E164G	probably damaging	Het
Mkl1	C	T	15: 81,017,033	S419N	probably damaging	Het
Mthfs	A	T	9: 89,240,025	H188L	probably benign	Het
Muc5b	T	A	7: 141,864,246	M3643K	possibly damaging	Het
Mylk3	T	C	8: 85,350,385	Y474C	probably damaging	Het
Myo5b	A	G	18: 74,744,630	T1567A	possibly damaging	Het
Ncaph2	T	G	15: 89,370,807	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967	R247G	possibly damaging	Het
Nedd9	T	C	13: 41,317,900	K208E	probably benign	Het
Nxph2	C	T	2: 23,399,858	T74M	probably benign	Het
Ogdh	T	A	11: 6,340,570	M385K	probably benign	Het
Olfr1239	T	C	2: 89,417,891	H174R	probably damaging	Het
Olfr2	C	T	7: 107,001,335	G175D	probably damaging	Het
Olfr402	A	T	11: 74,155,591	I146F	probably benign	Het
Olfr713	A	T	7: 107,036,914	Y253F	probably benign	Het
Olfr830	T	C	9: 18,876,179	V284A	probably damaging	Het
Olfr921	T	A	9: 38,775,374	F40I	probably benign	Het
Pcsk2	A	C	2: 143,813,425	I510L	probably benign	Het
Pdgfra	A	G	5: 75,189,311	N952S	probably benign	Het
Pex26	T	C	6: 121,193,557	F287S	probably damaging	Het
Pick1	G	C	15: 79,255,610		probably benign	Het
Plxnb1	G	T	9: 109,114,595	V1917L	probably damaging	Het
Polk	T	C	13: 96,489,256	T347A	probably benign	Het
Ppp1r10	T	G	17: 35,924,087	I61R	probably damaging	Het
Prex1	A	T	2: 166,592,291	L503Q	probably damaging	Het
Ptp4a1	A	C	1: 30,943,938	I133R	probably damaging	Het
Rassf10	G	T	7: 112,954,528	R112L	probably damaging	Het
Ripor3	T	A	2: 167,981,340	I884F	probably damaging	Het
Rnft2	A	G	5: 118,201,246	Y369H	probably damaging	Het
Rtp3	A	T	9: 110,986,454	V281E	probably benign	Het
Runx1t1	T	A	4: 13,837,767	N51K	probably damaging	Het
Selp	A	G	1: 164,144,906	T705A	probably benign	Het
Sgca	A	T	11: 94,970,727		probably null	Het
Slc22a3	T	C	17: 12,423,788	E514G	probably damaging	Het
Slc2a1	G	A	4: 119,132,445	R61Q	probably damaging	Het
Smarcal1	G	A	1: 72,597,440	V425I	probably benign	Het
Soga1	A	G	2: 157,020,252	S1586P	probably benign	Het
Ssx2ip	T	C	3: 146,418,359	V43A	probably benign	Het
Synpo	A	G	18: 60,604,314	S187P	probably damaging	Het
Thnsl1	T	A	2: 21,212,045	C203*	probably null	Het
Tldc1	A	T	8: 119,768,354	S222T	probably benign	Het
Ttyh3	A	T	5: 140,634,786	I232N	probably damaging	Het
Upk1b	T	C	16: 38,787,242	H41R	probably benign	Het
Vmn2r76	T	C	7: 86,230,444	D216G	possibly damaging	Het
Zan	A	T	5: 137,380,850	C5329*	probably null	Het
Zbtb40	C	T	4: 136,998,642	M535I	probably benign	Het
Zfp383	A	C	7: 29,914,838	T173P	possibly damaging	Het
Zfp7	T	A	15: 76,891,346	C529*	probably null	Het

Other mutations in Fars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:Fars2	APN	13	36537311	missense	probably benign	0.07
IGL02348:Fars2	APN	13	36537380	missense	probably benign	0.00
IGL02406:Fars2	APN	13	36410162	missense	probably benign	0.39
IGL02523:Fars2	APN	13	36204693	missense	probably damaging	1.00
IGL02896:Fars2	APN	13	36204842	missense	probably benign	0.02
IGL03299:Fars2	APN	13	36537410	nonsense	probably null
IGL03308:Fars2	APN	13	36204687	missense	possibly damaging	0.95
R0419:Fars2	UTSW	13	36537311	missense	probably benign	0.07
R0546:Fars2	UTSW	13	36204586	missense	probably benign	0.01
R1918:Fars2	UTSW	13	36204546	missense	probably damaging	1.00
R3120:Fars2	UTSW	13	36246417	missense	probably damaging	1.00
R3844:Fars2	UTSW	13	36205101	missense	probably damaging	1.00
R4716:Fars2	UTSW	13	36205068	missense	probably damaging	1.00
R4795:Fars2	UTSW	13	36537426	missense	probably damaging	0.97
R4979:Fars2	UTSW	13	36204581	missense	possibly damaging	0.54
R5262:Fars2	UTSW	13	36342018	missense	probably damaging	1.00
R5413:Fars2	UTSW	13	36204562	nonsense	probably null
R5475:Fars2	UTSW	13	36204570	missense	probably benign
R5635:Fars2	UTSW	13	36410146	missense	probably damaging	0.99
R6437:Fars2	UTSW	13	36204863	missense	probably benign	0.41
R7637:Fars2	UTSW	13	36204775	missense	probably benign	0.40
R7676:Fars2	UTSW	13	36205043	missense	probably benign	0.07
R8013:Fars2	UTSW	13	36205085	nonsense	probably null
R8014:Fars2	UTSW	13	36205085	nonsense	probably null
R8063:Fars2	UTSW	13	36204897	nonsense	probably null
R8273:Fars2	UTSW	13	36410110	missense	probably damaging	1.00
R8837:Fars2	UTSW	13	36246426	missense	probably damaging	1.00
R8994:Fars2	UTSW	13	36204866	missense	probably damaging	0.98
R9067:Fars2	UTSW	13	36204863	missense	probably benign	0.41
R9110:Fars2	UTSW	13	36246419	missense	probably benign	0.00
R9169:Fars2	UTSW	13	36232126	missense	probably damaging	1.00
X0020:Fars2	UTSW	13	36204795	missense	probably damaging	1.00
Z1177:Fars2	UTSW	13	36204731	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCCAATGTGCAGACATGG -3'
(R):5'- AGGGAACTCTTATATCAGTGTCTGC -3'

Sequencing Primer
(F):5'- CAATGTGCAGACATGGTTTCCAC -3'
(R):5'- GACAAATGCTATGTCAATGCTTCTG -3'

Posted On

2016-02-04