Mutagenetix > Incidental Mutation

Incidental Mutation 'R4795:Fars2'

368966

Institutional Source

Beutler Lab

Gene Symbol

Fars2

Ensembl Gene

ENSMUSG00000021420

Gene Name

phenylalanine-tRNA synthetase 2, mitochondrial

Synonyms

Fars1, 2810431B21Rik, 6720478K01Rik

MMRRC Submission

041996-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4795 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

36301373-36721569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36721400 bp (GRCm39)

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: 93.7%

Validation Efficiency

98% (123/125)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 121,969,772 (GRCm39)	L2259R	probably damaging	Het
Acd	A	G	8: 106,427,647 (GRCm39)	S2P	possibly damaging	Het
Acsf3	A	G	8: 123,506,896 (GRCm39)	Y63C	possibly damaging	Het
Adam21	T	C	12: 81,607,748 (GRCm39)	I5V	probably benign	Het
Adamts6	C	A	13: 104,580,636 (GRCm39)	S783*	probably null	Het
Adamtsl1	T	C	4: 86,162,006 (GRCm39)		probably null	Het
Adck2	T	A	6: 39,553,327 (GRCm39)	S313T	probably benign	Het
Adgb	A	G	10: 10,233,616 (GRCm39)	I1285T	probably benign	Het
Angptl1	T	A	1: 156,688,153 (GRCm39)	M485K	possibly damaging	Het
Ank3	G	A	10: 69,694,095 (GRCm39)	V289I	probably benign	Het
Atp13a4	A	G	16: 29,308,826 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,491,091 (GRCm39)	L648P	probably benign	Het
Atp2a3	A	G	11: 72,863,855 (GRCm39)	I194V	probably benign	Het
Bglap	A	C	3: 88,291,712 (GRCm39)	I4S	unknown	Het
Cacna1b	T	A	2: 24,527,499 (GRCm39)	T1621S	possibly damaging	Het
Ccdc112	T	A	18: 46,420,739 (GRCm39)	Q337L	probably benign	Het
Ccdc121rt3	A	G	5: 112,503,165 (GRCm39)	S180P	possibly damaging	Het
Cd34	T	G	1: 194,633,319 (GRCm39)	S194A	probably damaging	Het
Cdh20	A	G	1: 104,868,989 (GRCm39)	D160G	probably damaging	Het
Clock	T	C	5: 76,413,763 (GRCm39)	K44R	probably damaging	Het
Commd9	A	G	2: 101,729,241 (GRCm39)	N116D	probably benign	Het
Dab2	C	A	15: 6,459,092 (GRCm39)	P335T	probably benign	Het
Epb41l3	T	A	17: 69,555,714 (GRCm39)		probably null	Het
Epha2	A	G	4: 141,049,727 (GRCm39)		probably null	Het
Fam78b	T	C	1: 166,906,216 (GRCm39)	V125A	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Glyr1	A	C	16: 4,865,622 (GRCm39)	V44G	probably benign	Het
Gm1527	A	G	3: 28,974,812 (GRCm39)	I542V	possibly damaging	Het
Gm18856	C	A	13: 14,139,793 (GRCm39)		probably benign	Het
Gm44501	A	G	17: 40,889,605 (GRCm39)	K40E	probably benign	Het
Hdhd5	T	C	6: 120,500,407 (GRCm39)	H97R	probably benign	Het
Hmcn1	A	G	1: 150,629,362 (GRCm39)	V965A	probably benign	Het
Hsf5	A	G	11: 87,526,446 (GRCm39)	M373V	probably benign	Het
Igbp1b	C	T	6: 138,634,803 (GRCm39)	E214K	probably benign	Het
Iigp1	T	A	18: 60,522,964 (GRCm39)	F27L	probably benign	Het
Isl1	T	C	13: 116,441,966 (GRCm39)	N89S	probably benign	Het
Itga1	C	A	13: 115,171,921 (GRCm39)	W61C	probably damaging	Het
Itga5	T	C	15: 103,256,187 (GRCm39)	R922G	probably benign	Het
Kbtbd3	G	A	9: 4,331,073 (GRCm39)	W482*	probably null	Het
Kcnq1	A	G	7: 142,736,494 (GRCm39)	T168A	probably benign	Het
Lrch3	A	G	16: 32,826,074 (GRCm39)	N631S	probably damaging	Het
Lrrk1	T	A	7: 65,912,413 (GRCm39)	I1716F	possibly damaging	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Map4	T	C	9: 109,864,331 (GRCm39)	S519P	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mrtfa	C	T	15: 80,901,234 (GRCm39)	S419N	probably damaging	Het
Muc5b	A	G	7: 141,403,304 (GRCm39)	E755G	unknown	Het
Ncaph2	T	G	15: 89,255,010 (GRCm39)	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967 (GRCm39)	R247G	possibly damaging	Het
Necab1	G	T	4: 15,111,208 (GRCm39)	D73E	possibly damaging	Het
Nedd9	T	C	13: 41,471,376 (GRCm39)	K208E	probably benign	Het
Nfyb	A	T	10: 82,588,202 (GRCm39)		probably benign	Het
Nol4	T	C	18: 23,054,944 (GRCm39)	Q162R	probably damaging	Het
Nwd2	G	A	5: 63,962,776 (GRCm39)	D787N	probably benign	Het
Olfr908	T	A	9: 38,427,799 (GRCm39)	M157K	probably damaging	Het
Or10a5	A	T	7: 106,636,121 (GRCm39)	Y253F	probably benign	Het
Or11g7	A	C	14: 50,690,874 (GRCm39)	M122L	probably damaging	Het
Or13a22	A	G	7: 140,072,920 (GRCm39)	D123G	probably damaging	Het
Or5ac23	C	T	16: 59,149,213 (GRCm39)	V220I	probably benign	Het
Or6a2	C	T	7: 106,600,542 (GRCm39)	G175D	probably damaging	Het
Or6e1	A	G	14: 54,520,004 (GRCm39)	M116T	probably damaging	Het
Orai3	T	C	7: 127,373,060 (GRCm39)	V187A	probably benign	Het
Parn	T	C	16: 13,424,066 (GRCm39)	T444A	probably benign	Het
Pcdh11x	A	C	X: 119,309,937 (GRCm39)	N460T	probably damaging	Het
Pcnt	C	T	10: 76,205,858 (GRCm39)	R2516H	probably benign	Het
Pde4d	T	A	13: 110,074,705 (GRCm39)		probably benign	Het
Pdgfra	A	G	5: 75,349,972 (GRCm39)	N952S	probably benign	Het
Pgm2	A	G	5: 64,261,217 (GRCm39)	Y237C	probably damaging	Het
Plcb2	A	G	2: 118,541,605 (GRCm39)	V975A	probably benign	Het
Polk	T	C	13: 96,625,764 (GRCm39)	T347A	probably benign	Het
Ppp6r1	C	T	7: 4,644,053 (GRCm39)	V430M	possibly damaging	Het
Ptges2	C	A	2: 32,286,334 (GRCm39)	C16*	probably null	Het
Relb	A	T	7: 19,353,764 (GRCm39)	I38N	probably damaging	Het
Runx1t1	T	A	4: 13,837,767 (GRCm39)	N51K	probably damaging	Het
Samsn1	A	G	16: 75,680,733 (GRCm39)		probably benign	Het
Scrn1	A	G	6: 54,497,754 (GRCm39)	V279A	possibly damaging	Het
Sec31b	A	G	19: 44,520,185 (GRCm39)	S200P	probably benign	Het
Selp	A	G	1: 163,972,475 (GRCm39)	T705A	probably benign	Het
Slc2a1	G	A	4: 118,989,642 (GRCm39)	R61Q	probably damaging	Het
Slit3	G	A	11: 35,542,647 (GRCm39)		probably null	Het
Smo	T	A	6: 29,755,573 (GRCm39)	V415E	probably damaging	Het
Spag8	C	A	4: 43,652,035 (GRCm39)	V350L	possibly damaging	Het
Tbck	T	G	3: 132,413,559 (GRCm39)	L132R	possibly damaging	Het
Thnsl1	T	A	2: 21,216,856 (GRCm39)	C203*	probably null	Het
Tm9sf2	T	A	14: 122,387,252 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,880,757 (GRCm39)	V171A	probably damaging	Het
Tmem209	T	C	6: 30,501,954 (GRCm39)	T83A	probably benign	Het
Tmem63a	T	C	1: 180,782,416 (GRCm39)	Y138H	probably damaging	Het
Trim80	A	G	11: 115,338,769 (GRCm39)	Y533C	probably damaging	Het
Trpv2	A	G	11: 62,472,006 (GRCm39)	D66G	possibly damaging	Het
Trrap	T	A	5: 144,769,298 (GRCm39)	I2620N	probably benign	Het
Ttyh3	A	T	5: 140,620,541 (GRCm39)	I232N	probably damaging	Het
Ube2dnl1	G	A	X: 113,815,482 (GRCm39)	C119Y	possibly damaging	Het
Unc13c	T	A	9: 73,839,469 (GRCm39)	S461C	probably damaging	Het
Unc80	T	G	1: 66,567,100 (GRCm39)	I902S	probably damaging	Het
Usp42	C	A	5: 143,709,692 (GRCm39)	G170W	probably damaging	Het
Vldlr	T	C	19: 27,216,252 (GRCm39)		probably null	Het
Ywhab	A	G	2: 163,857,265 (GRCm39)	Y180C	probably damaging	Het
Zan	A	T	5: 137,379,112 (GRCm39)	C5329*	probably null	Het
Zbtb40	C	T	4: 136,725,953 (GRCm39)	M535I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp318	A	G	17: 46,722,988 (GRCm39)	T1664A	probably benign	Het
Zfp7	T	A	15: 76,775,546 (GRCm39)	C529*	probably null	Het
Zfp768	T	C	7: 126,942,547 (GRCm39)	Q527R	possibly damaging	Het
Zfp975	T	A	7: 42,314,570 (GRCm39)		probably null	Het

Other mutations in Fars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:Fars2	APN	13	36,721,285 (GRCm39)	missense	probably benign	0.07
IGL02348:Fars2	APN	13	36,721,354 (GRCm39)	missense	probably benign	0.00
IGL02406:Fars2	APN	13	36,594,145 (GRCm39)	missense	probably benign	0.39
IGL02523:Fars2	APN	13	36,388,676 (GRCm39)	missense	probably damaging	1.00
IGL02896:Fars2	APN	13	36,388,825 (GRCm39)	missense	probably benign	0.02
IGL03299:Fars2	APN	13	36,721,384 (GRCm39)	nonsense	probably null
IGL03308:Fars2	APN	13	36,388,670 (GRCm39)	missense	possibly damaging	0.95
R0419:Fars2	UTSW	13	36,721,285 (GRCm39)	missense	probably benign	0.07
R0546:Fars2	UTSW	13	36,388,569 (GRCm39)	missense	probably benign	0.01
R1918:Fars2	UTSW	13	36,388,529 (GRCm39)	missense	probably damaging	1.00
R3120:Fars2	UTSW	13	36,430,400 (GRCm39)	missense	probably damaging	1.00
R3844:Fars2	UTSW	13	36,389,084 (GRCm39)	missense	probably damaging	1.00
R4716:Fars2	UTSW	13	36,389,051 (GRCm39)	missense	probably damaging	1.00
R4796:Fars2	UTSW	13	36,721,400 (GRCm39)	missense	probably damaging	0.97
R4979:Fars2	UTSW	13	36,388,564 (GRCm39)	missense	possibly damaging	0.54
R5262:Fars2	UTSW	13	36,526,001 (GRCm39)	missense	probably damaging	1.00
R5413:Fars2	UTSW	13	36,388,545 (GRCm39)	nonsense	probably null
R5475:Fars2	UTSW	13	36,388,553 (GRCm39)	missense	probably benign
R5635:Fars2	UTSW	13	36,594,129 (GRCm39)	missense	probably damaging	0.99
R6437:Fars2	UTSW	13	36,388,846 (GRCm39)	missense	probably benign	0.41
R7637:Fars2	UTSW	13	36,388,758 (GRCm39)	missense	probably benign	0.40
R7676:Fars2	UTSW	13	36,389,026 (GRCm39)	missense	probably benign	0.07
R8013:Fars2	UTSW	13	36,389,068 (GRCm39)	nonsense	probably null
R8014:Fars2	UTSW	13	36,389,068 (GRCm39)	nonsense	probably null
R8063:Fars2	UTSW	13	36,388,880 (GRCm39)	nonsense	probably null
R8273:Fars2	UTSW	13	36,594,093 (GRCm39)	missense	probably damaging	1.00
R8837:Fars2	UTSW	13	36,430,409 (GRCm39)	missense	probably damaging	1.00
R8994:Fars2	UTSW	13	36,388,849 (GRCm39)	missense	probably damaging	0.98
R9067:Fars2	UTSW	13	36,388,846 (GRCm39)	missense	probably benign	0.41
R9110:Fars2	UTSW	13	36,430,402 (GRCm39)	missense	probably benign	0.00
R9169:Fars2	UTSW	13	36,416,109 (GRCm39)	missense	probably damaging	1.00
X0020:Fars2	UTSW	13	36,388,778 (GRCm39)	missense	probably damaging	1.00
Z1177:Fars2	UTSW	13	36,388,714 (GRCm39)	missense	probably benign

Predicted Primers

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

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

Posted On

2016-02-04