Incidental Mutation 'IGL00418:Pars2'
ID 6613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pars2
Ensembl Gene ENSMUSG00000043572
Gene Name prolyl-tRNA synthetase (mitochondrial)(putative)
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # IGL00418
Quality Score
Status
Chromosome 4
Chromosomal Location 106508266-106512479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106511247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 307 (V307E)
Ref Sequence ENSEMBL: ENSMUSP00000053160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058905] [ENSMUST00000106781] [ENSMUST00000106782]
AlphaFold Q8CFI5
Predicted Effect probably damaging
Transcript: ENSMUST00000058905
AA Change: V307E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053160
Gene: ENSMUSG00000043572
AA Change: V307E

DomainStartEndE-ValueType
Pfam:tRNA-synt_2b 98 268 4.8e-36 PFAM
Pfam:HGTP_anticodon 371 470 8.7e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106781
AA Change: V343E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102393
Gene: ENSMUSG00000043572
AA Change: V343E

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
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,095,748 (GRCm39) I238T probably damaging Het
Akap4 T C X: 6,942,729 (GRCm39) V344A possibly damaging Het
Apex2 T C X: 149,355,048 (GRCm39) K430E probably benign Het
Aqp9 C T 9: 71,040,013 (GRCm39) A90T probably damaging Het
Asb15 T A 6: 24,558,642 (GRCm39) probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Bspry G T 4: 62,414,342 (GRCm39) D312Y probably benign Het
Cdh16 G A 8: 105,350,045 (GRCm39) R5W probably benign Het
Ciz1 C T 2: 32,262,400 (GRCm39) R461C probably damaging Het
Cldn14 T A 16: 93,716,189 (GRCm39) D219V probably benign Het
Clpb A T 7: 101,436,952 (GRCm39) T706S probably benign Het
Cyp2d11 A T 15: 82,276,669 (GRCm39) M90K probably benign Het
Cyp2j8 T A 4: 96,332,853 (GRCm39) I498F possibly damaging Het
Dnah2 A G 11: 69,385,892 (GRCm39) probably benign Het
Dpyd T A 3: 118,737,891 (GRCm39) F477L probably damaging Het
Dscaml1 C A 9: 45,581,498 (GRCm39) S439* probably null Het
Faxc A G 4: 21,958,490 (GRCm39) K216E possibly damaging Het
Fmo1 C T 1: 162,663,815 (GRCm39) R238Q probably damaging Het
Gm14399 G A 2: 174,973,315 (GRCm39) R147* probably null Het
H2-Ab1 G A 17: 34,486,549 (GRCm39) V203M probably damaging Het
Heatr5b T C 17: 79,060,570 (GRCm39) E2035G probably damaging Het
Hip1 A G 5: 135,455,200 (GRCm39) I786T probably damaging Het
Homer1 T C 13: 93,524,196 (GRCm39) probably benign Het
Igkv9-120 A G 6: 68,026,971 (GRCm39) D2G possibly damaging Het
Irgm1 A T 11: 48,756,832 (GRCm39) Y326* probably null Het
Kctd19 A T 8: 106,115,095 (GRCm39) probably null Het
Large1 T C 8: 73,550,469 (GRCm39) probably null Het
Mzf1 G A 7: 12,778,543 (GRCm39) A287V possibly damaging Het
Nes A T 3: 87,883,561 (GRCm39) K607* probably null Het
Pcsk5 T A 19: 17,488,785 (GRCm39) I1012F possibly damaging Het
Pole T C 5: 110,451,431 (GRCm39) probably benign Het
Rbm14 T C 19: 4,852,576 (GRCm39) probably benign Het
Scn2a A T 2: 65,594,866 (GRCm39) Q1905L probably benign Het
Slc26a2 A G 18: 61,331,812 (GRCm39) F540L probably benign Het
Slco2a1 T C 9: 102,956,640 (GRCm39) probably benign Het
Tas2r106 T C 6: 131,654,922 (GRCm39) probably null Het
Tmem175 T A 5: 108,793,732 (GRCm39) D287E probably benign Het
Trappc12 T C 12: 28,787,835 (GRCm39) K416R probably damaging Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Vps13c T A 9: 67,783,544 (GRCm39) N240K probably damaging Het
Wdr90 A C 17: 26,068,338 (GRCm39) I1330S probably damaging Het
Wfdc6a A G 2: 164,426,914 (GRCm39) probably null Het
Zc3h12c C T 9: 52,027,965 (GRCm39) V466M probably damaging Het
Zswim8 A G 14: 20,768,543 (GRCm39) T1025A probably damaging Het
Other mutations in Pars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5162:Pars2 UTSW 4 106,511,735 (GRCm39) missense probably benign 0.00
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
Posted On 2012-04-20