Incidental Mutation 'R3120:Fars2'
ID 263188
Institutional Source Beutler Lab
Gene Symbol Fars2
Ensembl Gene ENSMUSG00000021420
Gene Name phenylalanine-tRNA synthetase 2, mitochondrial
Synonyms Fars1, 2810431B21Rik, 6720478K01Rik
MMRRC Submission 040593-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3120 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 36301373-36721569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36430400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 276 (E276G)
Ref Sequence ENSEMBL: ENSMUSP00000153019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021857] [ENSMUST00000099582] [ENSMUST00000224241] [ENSMUST00000224611] [ENSMUST00000224916]
AlphaFold Q99M01
Predicted Effect probably damaging
Transcript: ENSMUST00000021857
AA Change: E276G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: E276G

DomainStartEndE-ValueType
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: E44G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097177
Gene: ENSMUSG00000021420
AA Change: E44G

DomainStartEndE-ValueType
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: E276G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224540
Predicted Effect probably damaging
Transcript: ENSMUST00000224611
AA Change: E276G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224619
Predicted Effect probably damaging
Transcript: ENSMUST00000224916
AA Change: E276G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225525
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsx A G 9: 40,788,908 (GRCm39) K155R possibly damaging Het
Ccdc39 T C 3: 33,891,987 (GRCm39) K162E probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dnah1 G A 14: 30,988,779 (GRCm39) R3351* probably null Het
Eml1 A G 12: 108,479,312 (GRCm39) R362G probably benign Het
Fam222b T C 11: 78,044,742 (GRCm39) L101P probably damaging Het
Gatad1 G T 5: 3,691,456 (GRCm39) Y33* probably null Het
Gclc A C 9: 77,688,552 (GRCm39) E219A possibly damaging Het
Gm4846 A G 1: 166,319,117 (GRCm39) V207A probably benign Het
H1f5 A T 13: 21,964,215 (GRCm39) S170R probably benign Het
Hbq1a T C 11: 32,250,472 (GRCm39) L87P probably damaging Het
Magea6 A T X: 153,707,291 (GRCm39) I255N probably benign Het
Mfsd12 T G 10: 81,197,049 (GRCm39) V206G probably benign Het
Mis18bp1 T C 12: 65,203,762 (GRCm39) probably null Het
Nf1 C A 11: 79,455,725 (GRCm39) T550K probably damaging Het
Nlrp4f T C 13: 65,342,530 (GRCm39) T372A probably benign Het
Or5p70 T C 7: 107,994,930 (GRCm39) I201T possibly damaging Het
Pkdcc T C 17: 83,527,466 (GRCm39) Y215H probably damaging Het
Plekha5 A G 6: 140,537,367 (GRCm39) T253A probably benign Het
Polr2f T A 15: 79,028,788 (GRCm39) probably null Het
Prph2 C T 17: 47,234,298 (GRCm39) A289V possibly damaging Het
Ptdss2 C T 7: 140,732,132 (GRCm39) H140Y probably damaging Het
Rlf T A 4: 121,006,680 (GRCm39) I877L probably benign Het
Scgb2b2 T C 7: 31,003,001 (GRCm39) L32S possibly damaging Het
Sfpq T A 4: 126,915,926 (GRCm39) H239Q unknown Het
St6gal2 A T 17: 55,789,111 (GRCm39) R48S probably benign Het
Sybu T C 15: 44,536,355 (GRCm39) D657G possibly damaging Het
Syt15 A G 14: 33,944,950 (GRCm39) I166V probably benign Het
Taar7f C A 10: 23,925,478 (GRCm39) T24K probably benign Het
Tbcd T C 11: 121,499,474 (GRCm39) S1093P probably damaging Het
Tfap2c G A 2: 172,399,015 (GRCm39) V396M possibly damaging Het
Tnxb C T 17: 34,911,329 (GRCm39) T1544I possibly damaging Het
Trim28 A G 7: 12,762,341 (GRCm39) T322A probably damaging Het
Tubgcp3 G A 8: 12,707,626 (GRCm39) A121V possibly damaging Het
Vmn2r14 A T 5: 109,372,431 (GRCm39) W20R probably null Het
Zfp551 A G 7: 12,149,943 (GRCm39) F489L possibly damaging Het
Other mutations in Fars2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGCTTTTAGAGGGTCCTGAAAATG -3'
(R):5'- TGCCCCTGGTGGCATAATTG -3'

Sequencing Primer
(F):5'- GGGTCCTGAAAATGACATAAGATTC -3'
(R):5'- TTGTAGGTGACTATGAAAATGGAGTC -3'
Posted On 2015-02-05