Mutagenetix > Incidental Mutation

Incidental Mutation 'R8837:Fars2'

674237

Institutional Source

Beutler Lab

Gene Symbol

Fars2

Ensembl Gene

ENSMUSG00000021420

Gene Name

phenylalanine-tRNA synthetase 2, mitochondrial

Synonyms

Fars1, 2810431B21Rik, 6720478K01Rik

MMRRC Submission

068665-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8837 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36301373-36721569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36430409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 279 (I279N)

Ref Sequence

ENSEMBL: ENSMUSP00000021857 (fasta)

Gene Model

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

AlphaFold

Q99M01

Predicted Effect

probably damaging
Transcript: ENSMUST00000021857
AA Change: I279N

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

SMART Domains

Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: I279N

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

probably damaging
Transcript: ENSMUST00000099582
AA Change: I47N

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

SMART Domains

Protein: ENSMUSP00000097177
Gene: ENSMUSG00000021420
AA Change: I47N

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

probably damaging
Transcript: ENSMUST00000224241
AA Change: I279N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224611
AA Change: I279N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224916
AA Change: I279N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,986,873 (GRCm39)	F764C	probably damaging	Het
Aff1	A	G	5: 103,982,078 (GRCm39)	D739G	possibly damaging	Het
Atosb	A	G	4: 43,034,531 (GRCm39)	S355P	probably damaging	Het
Atp1a3	T	C	7: 24,677,980 (GRCm39)	Y1012C	probably damaging	Het
Btbd10	T	C	7: 112,929,133 (GRCm39)	T206A	probably benign	Het
Capn8	G	T	1: 182,456,199 (GRCm39)	A650S	possibly damaging	Het
Catsper1	A	C	19: 5,386,070 (GRCm39)	N101T	probably damaging	Het
Cdh23	A	C	10: 60,160,755 (GRCm39)	S2070R	probably benign	Het
Cep350	A	G	1: 155,737,518 (GRCm39)	V2775A	probably benign	Het
Clybl	G	A	14: 122,419,194 (GRCm39)		probably null	Het
Cog4	T	A	8: 111,579,004 (GRCm39)	N148K	probably benign	Het
Dbnl	G	A	11: 5,741,839 (GRCm39)	G44D	possibly damaging	Het
Dgcr2	A	T	16: 17,667,630 (GRCm39)	N276K	possibly damaging	Het
Dnah9	T	A	11: 65,746,060 (GRCm39)	T4018S	possibly damaging	Het
Dock3	A	G	9: 106,774,539 (GRCm39)	L72P	probably benign	Het
Dync2i2	T	C	2: 29,928,374 (GRCm39)	D84G	probably benign	Het
Fabp4	T	C	3: 10,271,105 (GRCm39)	T51A	probably benign	Het
Fas	A	T	19: 34,296,049 (GRCm39)	Q164L	probably benign	Het
Focad	A	G	4: 88,072,905 (GRCm39)	K107E	probably damaging	Het
Gga3	G	A	11: 115,479,305 (GRCm39)	S338L	probably benign	Het
Grip1	A	G	10: 119,765,940 (GRCm39)	R91G	probably damaging	Het
Igkv3-7	A	G	6: 70,584,942 (GRCm39)	D94G	possibly damaging	Het
Kank3	G	C	17: 34,036,627 (GRCm39)	R165P	probably damaging	Het
Kmt2d	A	T	15: 98,762,048 (GRCm39)	L434Q	unknown	Het
Krt18	A	G	15: 101,938,265 (GRCm39)	T163A	possibly damaging	Het
Lcn10	T	A	2: 25,575,298 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,394,795 (GRCm39)	P210Q	probably benign	Het
Lyst	T	A	13: 13,852,548 (GRCm39)	S2183T	probably benign	Het
Mga	G	A	2: 119,769,272 (GRCm39)		probably benign	Het
Myh9	G	A	15: 77,661,137 (GRCm39)	A818V	possibly damaging	Het
Or1j15	T	C	2: 36,458,703 (GRCm39)	I31T	probably benign	Het
Or1o3	G	T	17: 37,573,807 (GRCm39)	Y249*	probably null	Het
Or8b1	A	T	9: 38,399,597 (GRCm39)	I91F	probably benign	Het
Pde7b	A	G	10: 20,314,469 (GRCm39)		probably null	Het
Pik3cb	A	T	9: 98,936,117 (GRCm39)	Y772N	possibly damaging	Het
Ppl	C	G	16: 4,906,854 (GRCm39)	R1147P	probably damaging	Het
Prl3d2	A	T	13: 27,307,926 (GRCm39)	D69V	probably benign	Het
Psd3	A	G	8: 68,172,596 (GRCm39)	F871L	probably damaging	Het
Rlf	G	A	4: 121,045,432 (GRCm39)	P152S	probably benign	Het
Rpa1	T	C	11: 75,204,167 (GRCm39)	E270G	possibly damaging	Het
Scfd2	T	C	5: 74,691,656 (GRCm39)	T209A	probably benign	Het
Scn11a	A	G	9: 119,621,410 (GRCm39)	L669P	probably damaging	Het
Sec31b	A	T	19: 44,506,106 (GRCm39)	C933*	probably null	Het
Serpina3k	G	T	12: 104,309,292 (GRCm39)	M245I	probably benign	Het
Slc9a3	T	A	13: 74,305,823 (GRCm39)	I280N	probably damaging	Het
Soat1	A	G	1: 156,261,772 (GRCm39)	V412A	probably damaging	Het
Spata31d1a	A	T	13: 59,850,596 (GRCm39)	S511T	possibly damaging	Het
Sphkap	A	T	1: 83,253,384 (GRCm39)	V1455E	possibly damaging	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tbxas1	G	T	6: 39,048,364 (GRCm39)	M403I		Het
Tln2	A	T	9: 67,157,866 (GRCm39)	C1158S	probably damaging	Het
Tnrc18	T	C	5: 142,778,811 (GRCm39)	T98A	possibly damaging	Het
Ttc23	T	C	7: 67,319,494 (GRCm39)	L118P	probably damaging	Het
Tyr	T	A	7: 87,087,223 (GRCm39)	I430L	probably damaging	Het
Uck2	A	G	1: 167,070,715 (GRCm39)	F5L	probably benign	Het
Ush2a	G	A	1: 188,485,847 (GRCm39)	V2986I	probably benign	Het
Vmn2r96	A	G	17: 18,802,888 (GRCm39)	D266G	probably benign	Het
Yrdc	A	G	4: 124,747,677 (GRCm39)	D213G	probably benign	Het
Zfp612	C	A	8: 110,815,603 (GRCm39)	T270K	probably damaging	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
R4795:Fars2	UTSW	13	36,721,400 (GRCm39)	missense	probably damaging	0.97
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
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'- GCTTTTAGAGGGTCCTGAAAATGAC -3'
(R):5'- TGCCCCTGGTGGCATAATTG -3'

Sequencing Primer
(F):5'- GGGTCCTGAAAATGACATAAGATTC -3'
(R):5'- TTGTAGGTGACTATGAAAATGGAGTC -3'

Posted On

2021-07-15