Mutagenetix > Incidental Mutation

Incidental Mutation 'R4979:Fars2'

384698

Institutional Source

Beutler Lab

Gene Symbol

Fars2

Ensembl Gene

ENSMUSG00000021420

Gene Name

phenylalanine-tRNA synthetase 2, mitochondrial

Synonyms

Fars1, 2810431B21Rik, 6720478K01Rik

MMRRC Submission

042574-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4979 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36301373-36721569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36388564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 18 (R18G)

Ref Sequence

ENSEMBL: ENSMUSP00000153209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021857] [ENSMUST00000099582] [ENSMUST00000223796] [ENSMUST00000224241] [ENSMUST00000224611] [ENSMUST00000224916]

AlphaFold

Q99M01

Predicted Effect

probably benign
Transcript: ENSMUST00000021857
AA Change: R18G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: R18G

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 benign
Transcript: ENSMUST00000099582

SMART Domains

Protein: ENSMUSP00000097177
Gene: ENSMUSG00000021420

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

possibly damaging
Transcript: ENSMUST00000223796
AA Change: R18G

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000224241
AA Change: R18G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000224611
AA Change: R18G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224916
AA Change: R18G

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225525

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (79/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,220,643 (GRCm39)	E381K	probably damaging	Het
Abca1	T	C	4: 53,085,092 (GRCm39)		probably null	Het
Abca7	C	T	10: 79,840,617 (GRCm39)	Q870*	probably null	Het
Ambp	C	T	4: 63,070,888 (GRCm39)	V64M	probably benign	Het
Ank1	T	C	8: 23,622,212 (GRCm39)	V1542A	probably damaging	Het
Anln	T	C	9: 22,287,797 (GRCm39)	Y168C	probably benign	Het
Apoa4	T	A	9: 46,152,803 (GRCm39)	N29K	probably benign	Het
Arfgef1	T	C	1: 10,283,334 (GRCm39)	T192A	probably damaging	Het
Atad2b	G	T	12: 5,084,513 (GRCm39)	D1420Y	probably damaging	Het
Baiap3	A	G	17: 25,465,336 (GRCm39)	W648R	possibly damaging	Het
Bank1	A	G	3: 135,960,662 (GRCm39)	L198P	probably damaging	Het
Bicd2	A	G	13: 49,532,940 (GRCm39)	K509E	possibly damaging	Het
Cacna1e	T	C	1: 154,289,739 (GRCm39)	D1821G	probably damaging	Het
Ccdc80	G	A	16: 44,936,650 (GRCm39)	V692M	possibly damaging	Het
Ccdc88a	C	T	11: 29,432,133 (GRCm39)	Q308*	probably null	Het
Ccl8	T	C	11: 82,006,973 (GRCm39)	V62A	probably damaging	Het
Clspn	C	A	4: 126,472,179 (GRCm39)	P951Q	probably damaging	Het
Cngb1	T	A	8: 95,985,785 (GRCm39)	I858F	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctc1	C	T	11: 68,924,328 (GRCm39)	A960V	probably damaging	Het
Ctnnd2	A	G	15: 31,009,221 (GRCm39)	E1106G	probably damaging	Het
Dido1	C	T	2: 180,302,606 (GRCm39)	R1766H	probably damaging	Het
Dipk1a	A	T	5: 108,057,400 (GRCm39)	L386*	probably null	Het
Dnajc13	G	T	9: 104,063,922 (GRCm39)	N1341K	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
E2f8	G	A	7: 48,524,918 (GRCm39)		probably benign	Het
Entpd8	A	G	2: 24,972,967 (GRCm39)	D91G	possibly damaging	Het
Fcgbp	A	G	7: 27,816,995 (GRCm39)	S2486G	probably benign	Het
Fibin	C	T	2: 110,192,963 (GRCm39)	D60N	possibly damaging	Het
Fpgs	A	G	2: 32,577,379 (GRCm39)		probably benign	Het
Galnt15	A	G	14: 31,765,247 (GRCm39)	D303G	probably damaging	Het
Gli3	C	A	13: 15,899,049 (GRCm39)	T812K	possibly damaging	Het
Gpbar1	G	C	1: 74,318,404 (GRCm39)	A216P	probably benign	Het
Grin2d	A	G	7: 45,507,357 (GRCm39)	I448T	probably benign	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Iqce	G	T	5: 140,677,376 (GRCm39)	D148E	probably damaging	Het
Iqcg	T	A	16: 32,839,884 (GRCm39)	E354V	probably damaging	Het
Iws1	T	C	18: 32,226,320 (GRCm39)		probably benign	Het
Ly75	C	T	2: 60,206,238 (GRCm39)	G144S	probably damaging	Het
Marco	C	A	1: 120,421,954 (GRCm39)	M83I	probably benign	Het
Mettl6	A	T	14: 31,201,752 (GRCm39)	L185H	probably damaging	Het
Mppe1	C	T	18: 67,362,773 (GRCm39)	G154D	probably damaging	Het
Mrpl42	T	C	10: 95,326,237 (GRCm39)	E85G	probably benign	Het
Neb	A	G	2: 52,079,921 (GRCm39)	V5518A	probably damaging	Het
Or12d13	A	T	17: 37,647,759 (GRCm39)	F121L	probably benign	Het
Or52p1	T	A	7: 104,267,812 (GRCm39)	F317I	probably null	Het
Or5b105	A	T	19: 13,080,053 (GRCm39)	I199N	probably damaging	Het
Or7a42	T	A	10: 78,791,766 (GRCm39)	C242*	probably null	Het
Or7d10	G	T	9: 19,831,655 (GRCm39)	S50I	probably benign	Het
Perm1	A	G	4: 156,302,034 (GRCm39)	T193A	probably benign	Het
Prkd2	T	A	7: 16,582,652 (GRCm39)	C172S	probably damaging	Het
Prr23a3	T	A	9: 98,747,431 (GRCm39)	D128E	possibly damaging	Het
Prss28	A	G	17: 25,528,711 (GRCm39)	Y51C	probably damaging	Het
Psmb1	A	T	17: 15,696,451 (GRCm39)	M85K	probably benign	Het
Rae1	T	A	2: 172,854,401 (GRCm39)		probably benign	Het
Rasal1	A	G	5: 120,816,741 (GRCm39)	D759G	probably benign	Het
Rcvrn	G	A	11: 67,586,246 (GRCm39)	G2R	probably damaging	Het
Robo3	C	T	9: 37,334,640 (GRCm39)	A597T	probably damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Homo
Sdcbp	T	A	4: 6,378,980 (GRCm39)	Y22*	probably null	Het
Sin3a	T	C	9: 57,025,360 (GRCm39)	F1069L	probably damaging	Het
Slitrk3	C	T	3: 72,957,129 (GRCm39)	V548I	possibly damaging	Het
Tbc1d22a	A	G	15: 86,275,287 (GRCm39)	H403R	probably damaging	Het
Tbr1	G	T	2: 61,635,593 (GRCm39)		probably null	Het
Tiam2	T	A	17: 3,555,985 (GRCm39)	D65E	probably damaging	Het
Tpcn2	A	G	7: 144,813,833 (GRCm39)	S488P	probably benign	Het
Trav9-2	T	C	14: 53,828,695 (GRCm39)	S22P	probably damaging	Het
Trim34a	T	A	7: 103,897,069 (GRCm39)	N44K	probably benign	Het
Unc79	C	G	12: 103,078,691 (GRCm39)	P1619A	probably benign	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vhl	A	T	6: 113,601,159 (GRCm39)	M20L	unknown	Het
Vmn1r215	G	A	13: 23,260,064 (GRCm39)	A35T	probably benign	Het
Vmn1r222	G	A	13: 23,416,602 (GRCm39)	L204F	possibly damaging	Het
Zfp871	A	T	17: 32,994,829 (GRCm39)	H115Q	probably damaging	Het
Zpr1	T	A	9: 46,189,640 (GRCm39)	F340L	probably benign	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
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'- TCACTAGGAAAGCCATGAGCC -3'
(R):5'- TACTGCTGGTAGAAGTGCTCC -3'

Sequencing Primer
(F):5'- CTAGGAAAGCCATGAGCCTGTTG -3'
(R):5'- GCTCCTTAATCAGCCACAGAGGG -3'

Posted On

2016-05-10