Mutagenetix > Incidental Mutation

Incidental Mutation 'R8273:Fars2'

637868

Institutional Source

Beutler Lab

Gene Symbol

Fars2

Ensembl Gene

ENSMUSG00000021420

Gene Name

phenylalanine-tRNA synthetase 2, mitochondrial

Synonyms

Fars1, 2810431B21Rik, 6720478K01Rik

MMRRC Submission

067696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36301373-36721569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36594093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 366 (D366G)

Ref Sequence

ENSEMBL: ENSMUSP00000021857 (fasta)

Gene Model

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

AlphaFold

Q99M01

Predicted Effect

probably damaging
Transcript: ENSMUST00000021857
AA Change: D366G

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

SMART Domains

Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: D366G

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: D134G

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

SMART Domains

Protein: ENSMUSP00000097177
Gene: ENSMUSG00000021420
AA Change: D134G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,211 (GRCm39)	V467I	probably benign	Het
Ank1	G	A	8: 23,575,668 (GRCm39)	G167E	probably damaging	Het
Ano2	G	A	6: 125,959,683 (GRCm39)	V648M	probably damaging	Het
Ap3b2	A	G	7: 81,112,990 (GRCm39)	C954R	unknown	Het
Atp13a4	T	G	16: 29,290,720 (GRCm39)	Y243S		Het
Bend3	T	G	10: 43,386,899 (GRCm39)	C431G	probably damaging	Het
Ccdc57	G	A	11: 120,812,599 (GRCm39)	R52C	probably damaging	Het
Ccl22	T	C	8: 95,473,619 (GRCm39)	W55R	probably damaging	Het
Ccnk	A	G	12: 108,152,758 (GRCm39)	Y25C	probably damaging	Het
Cntnap5a	C	T	1: 116,499,271 (GRCm39)	P1174S	probably damaging	Het
Copa	T	C	1: 171,946,546 (GRCm39)		probably null	Het
Copg2	C	T	6: 30,793,061 (GRCm39)	V425M	probably benign	Het
Dnah6	T	A	6: 73,172,664 (GRCm39)	T265S	probably benign	Het
Dnah6	T	C	6: 73,053,582 (GRCm39)	E2936G	probably benign	Het
Dync2i2	A	T	2: 29,921,903 (GRCm39)	V486D	probably damaging	Het
Erc2	A	G	14: 27,499,096 (GRCm39)	D324G	probably benign	Het
F11	T	A	8: 45,701,644 (GRCm39)	H363L	possibly damaging	Het
F7	T	C	8: 13,083,981 (GRCm39)	V222A	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flot2	A	G	11: 77,950,021 (GRCm39)	I417V	probably benign	Het
Fmnl1	T	C	11: 103,077,525 (GRCm39)	F295S	probably damaging	Het
Gpr89	G	A	3: 96,812,505 (GRCm39)	T12I	probably benign	Het
Gprc6a	T	C	10: 51,507,370 (GRCm39)	D53G	probably benign	Het
Gtf2e1	T	A	16: 37,343,213 (GRCm39)	I184F	probably damaging	Het
Gtf2h1	G	A	7: 46,454,474 (GRCm39)	R152H	probably benign	Het
Haus3	A	G	5: 34,311,435 (GRCm39)	F532L	probably benign	Het
Inpp4a	A	G	1: 37,407,520 (GRCm39)		probably benign	Het
Klc4	A	T	17: 46,953,080 (GRCm39)	L150Q	possibly damaging	Het
Lzts3	C	T	2: 130,476,801 (GRCm39)	R549Q	possibly damaging	Het
Mbd5	T	A	2: 49,168,891 (GRCm39)	L1354Q	probably damaging	Het
Mtus2	A	G	5: 148,043,815 (GRCm39)	D801G	probably damaging	Het
Muc6	T	A	7: 141,226,795 (GRCm39)	T1411S	unknown	Het
Nalcn	C	A	14: 123,554,436 (GRCm39)	G954C	probably damaging	Het
Nlrp9b	G	A	7: 19,757,986 (GRCm39)	E408K	possibly damaging	Het
Oaz3	A	G	3: 94,342,434 (GRCm39)	L119P	probably damaging	Het
Or2w6	A	G	13: 21,843,377 (GRCm39)	F39L	probably damaging	Het
Pcdhgb5	T	C	18: 37,865,240 (GRCm39)	V345A	probably benign	Het
Pdzph1	A	T	17: 59,280,009 (GRCm39)	Y758N	probably benign	Het
Pea15a	T	A	1: 172,026,812 (GRCm39)	H65L	probably damaging	Het
Pigm	T	A	1: 172,205,524 (GRCm39)	I420N	probably benign	Het
Pign	A	G	1: 105,516,803 (GRCm39)	F580L	probably benign	Het
Pkhd1	T	C	1: 20,607,644 (GRCm39)		probably benign	Het
Plxnc1	T	C	10: 94,649,105 (GRCm39)	N1225D	probably benign	Het
Rbbp6	G	A	7: 122,589,547 (GRCm39)	D412N	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rtl1	A	G	12: 109,559,149 (GRCm39)	Y897H	possibly damaging	Het
Scube2	A	T	7: 109,408,383 (GRCm39)	F688Y	probably benign	Het
Sgo2b	C	A	8: 64,377,735 (GRCm39)	R1166L	unknown	Het
Slc12a2	G	T	18: 58,047,338 (GRCm39)		probably benign	Het
Smpdl3b	T	A	4: 132,465,712 (GRCm39)	H236L	probably damaging	Het
Spata9	C	A	13: 76,125,666 (GRCm39)		probably benign	Het
St6galnac4	A	G	2: 32,477,667 (GRCm39)		probably benign	Het
Stc2	T	A	11: 31,319,777 (GRCm39)	N29I	possibly damaging	Het
Sun5	A	T	2: 153,707,243 (GRCm39)	M145K	possibly damaging	Het
Tas2r106	T	C	6: 131,655,018 (GRCm39)	I278V	probably damaging	Het
Trrap	A	G	5: 144,727,975 (GRCm39)	I565M	probably damaging	Het
Ttl	A	G	2: 128,910,853 (GRCm39)	K79R	probably benign	Het
Ttn	A	T	2: 76,737,721 (GRCm39)	Y4319N	unknown	Het
Usp28	T	C	9: 48,938,182 (GRCm39)	L584P	probably damaging	Het
Wdr27	A	G	17: 15,049,838 (GRCm39)	S777P	probably benign	Het
Wee1	A	G	7: 109,723,691 (GRCm39)	D202G	probably benign	Het
Wnt5a	T	C	14: 28,244,562 (GRCm39)	Y270H	probably damaging	Het
Zfp318	G	A	17: 46,723,301 (GRCm39)	C1768Y	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
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'- CTGAGGCATTCAAACTAGAATTTGC -3'
(R):5'- AAACTCTGGTATAAGTCTCCAAGTTGG -3'

Sequencing Primer
(F):5'- AGAATTTGCTAATTTTGAACACTGG -3'
(R):5'- TCCAAGTTGGATCTGTCACACAGAG -3'

Posted On

2020-07-28