Incidental Mutation 'R5162:Pars2'
ID 397041
Institutional Source Beutler Lab
Gene Symbol Pars2
Ensembl Gene ENSMUSG00000043572
Gene Name prolyl-tRNA synthetase (mitochondrial)(putative)
Synonyms
MMRRC Submission 042744-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R5162 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 106508266-106512479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106511735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 506 (T506A)
Ref Sequence ENSEMBL: ENSMUSP00000102393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058905] [ENSMUST00000106781] [ENSMUST00000106782]
AlphaFold Q8CFI5
Predicted Effect probably benign
Transcript: ENSMUST00000058905
AA Change: T470A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053160
Gene: ENSMUSG00000043572
AA Change: T470A

DomainStartEndE-ValueType
Pfam:tRNA-synt_2b 98 268 4.8e-36 PFAM
Pfam:HGTP_anticodon 371 470 8.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106781
AA Change: T506A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102393
Gene: ENSMUSG00000043572
AA Change: T506A

DomainStartEndE-ValueType
Pfam:tRNA-synt_2b 178 391 4.1e-36 PFAM
Pfam:HGTP_anticodon 407 506 3.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106782
SMART Domains Protein: ENSMUSP00000102394
Gene: ENSMUSG00000043572

DomainStartEndE-ValueType
PDB:2I4O|C 63 162 2e-8 PDB
SCOP:d1atia2 95 162 4e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146966
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,301 (GRCm39) T229S probably benign Het
Adrb3 T C 8: 27,717,348 (GRCm39) E367G probably benign Het
Ak9 T A 10: 41,233,653 (GRCm39) N630K probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Cry1 T A 10: 84,969,150 (GRCm39) H558L probably benign Het
Cstdc3 A T 16: 36,132,918 (GRCm39) H65L probably damaging Het
Cyp3a57 T A 5: 145,305,893 (GRCm39) W126R probably damaging Het
Dhx36 A T 3: 62,401,201 (GRCm39) V355E probably damaging Het
Dpp6 A G 5: 27,604,013 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Enpp2 T C 15: 54,710,692 (GRCm39) D694G probably benign Het
Esrp2 T C 8: 106,859,930 (GRCm39) E336G probably damaging Het
Faah A T 4: 115,857,938 (GRCm39) probably benign Het
Fat1 G A 8: 45,478,846 (GRCm39) G2608R probably benign Het
Fbxo8 A T 8: 57,022,354 (GRCm39) Y122F probably damaging Het
Fgd5 A G 6: 92,051,215 (GRCm39) D1497G probably damaging Het
Fn3krp T C 11: 121,320,410 (GRCm39) F252L probably damaging Het
Fnip2 T C 3: 79,389,084 (GRCm39) Y549C probably damaging Het
Gcm2 T C 13: 41,257,131 (GRCm39) N206S probably benign Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
H2-T10 T A 17: 36,429,843 (GRCm39) probably null Het
Henmt1 T C 3: 108,847,366 (GRCm39) probably null Het
Man1b1 T A 2: 25,233,365 (GRCm39) L246Q probably damaging Het
Mdh2 T C 5: 135,812,329 (GRCm39) probably null Het
Mocos T C 18: 24,787,109 (GRCm39) F43L probably damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Naip5 T A 13: 100,359,914 (GRCm39) I441F possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nars2 T C 7: 96,709,027 (GRCm39) probably benign Het
Ncoa2 A T 1: 13,245,396 (GRCm39) M434K possibly damaging Het
Nlrp4g T A 9: 124,350,394 (GRCm38) noncoding transcript Het
Or14j8 T A 17: 38,263,255 (GRCm39) Q220L probably benign Het
Or9a2 G T 6: 41,748,706 (GRCm39) H176N possibly damaging Het
Pals2 T A 6: 50,155,495 (GRCm39) W259R probably damaging Het
Pkp2 T C 16: 16,078,200 (GRCm39) S481P probably damaging Het
Plod3 T C 5: 137,020,161 (GRCm39) W459R probably damaging Het
Pramel13 A T 4: 144,121,482 (GRCm39) L181M probably damaging Het
Prdm10 A T 9: 31,251,714 (GRCm39) I361F possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Raver2 T C 4: 100,959,921 (GRCm39) C134R probably damaging Het
Rnf130 G C 11: 49,943,722 (GRCm39) A123P probably damaging Het
Slc29a4 G A 5: 142,707,207 (GRCm39) A517T possibly damaging Het
Slc38a6 T A 12: 73,376,759 (GRCm39) S138T possibly damaging Het
Spred1 T C 2: 117,008,102 (GRCm39) V336A possibly damaging Het
Sptlc3 T A 2: 139,473,263 (GRCm39) M504K probably benign Het
Syt11 T C 3: 88,655,149 (GRCm39) D78G probably damaging Het
Trim23 C T 13: 104,317,682 (GRCm39) T61I probably damaging Het
Tsg101 T C 7: 46,542,174 (GRCm39) T260A probably damaging Het
Tyw5 T C 1: 57,440,618 (GRCm39) Y48C probably damaging Het
Utp25 G T 1: 192,796,089 (GRCm39) T192K probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Vmn2r89 C A 14: 51,693,620 (GRCm39) H323Q possibly damaging Het
Vps18 A G 2: 119,123,423 (GRCm39) S117G probably benign Het
Zfp93 C G 7: 23,975,757 (GRCm39) Q581E probably damaging Het
Other mutations in Pars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Pars2 APN 4 106,511,247 (GRCm39) missense probably damaging 0.99
IGL03358:Pars2 APN 4 106,510,239 (GRCm39) missense probably benign 0.00
PIT4378001:Pars2 UTSW 4 106,511,490 (GRCm39) missense possibly damaging 0.51
R1384:Pars2 UTSW 4 106,510,913 (GRCm39) missense possibly damaging 0.75
R1874:Pars2 UTSW 4 106,510,913 (GRCm39) missense possibly damaging 0.75
R1875:Pars2 UTSW 4 106,510,913 (GRCm39) missense possibly damaging 0.75
R2041:Pars2 UTSW 4 106,510,814 (GRCm39) missense probably damaging 1.00
R4606:Pars2 UTSW 4 106,511,247 (GRCm39) missense probably benign 0.22
R4790:Pars2 UTSW 4 106,508,308 (GRCm39) utr 5 prime probably benign
R4794:Pars2 UTSW 4 106,511,407 (GRCm39) nonsense probably null
R6066:Pars2 UTSW 4 106,511,276 (GRCm39) missense probably damaging 1.00
R6730:Pars2 UTSW 4 106,510,628 (GRCm39) missense probably damaging 1.00
R6860:Pars2 UTSW 4 106,511,700 (GRCm39) missense probably benign 0.45
R7710:Pars2 UTSW 4 106,511,276 (GRCm39) missense probably damaging 1.00
R7712:Pars2 UTSW 4 106,511,276 (GRCm39) missense probably damaging 1.00
R7817:Pars2 UTSW 4 106,511,276 (GRCm39) missense probably damaging 1.00
R7870:Pars2 UTSW 4 106,511,276 (GRCm39) missense probably damaging 1.00
R8707:Pars2 UTSW 4 106,510,359 (GRCm39) missense probably damaging 0.99
Z1177:Pars2 UTSW 4 106,511,643 (GRCm39) missense probably damaging 1.00
Z1177:Pars2 UTSW 4 106,510,296 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGACATCATGGAGGCTGTGC -3'
(R):5'- CGGAGTTAATGGCTACATACAAACC -3'

Sequencing Primer
(F):5'- TCCGAGGGGAGGTCCTG -3'
(R):5'- GTTAATGGCTACATACAAACCATCAC -3'
Posted On 2016-06-21