Incidental Mutation 'R1384:Pars2'
ID 163154
Institutional Source Beutler Lab
Gene Symbol Pars2
Ensembl Gene ENSMUSG00000043572
Gene Name prolyl-tRNA synthetase (mitochondrial)(putative)
Synonyms
MMRRC Submission 039446-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # R1384 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 106508266-106512479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106510913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 232 (F232L)
Ref Sequence ENSEMBL: ENSMUSP00000102393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058905] [ENSMUST00000106781] [ENSMUST00000106782]
AlphaFold Q8CFI5
Predicted Effect possibly damaging
Transcript: ENSMUST00000058905
AA Change: F196L

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053160
Gene: ENSMUSG00000043572
AA Change: F196L

DomainStartEndE-ValueType
Pfam:tRNA-synt_2b 98 268 4.8e-36 PFAM
Pfam:HGTP_anticodon 371 470 8.7e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106781
AA Change: F232L

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102393
Gene: ENSMUSG00000043572
AA Change: F232L

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 0.0976 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 96% (54/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,451 (GRCm39) noncoding transcript Het
A930033H14Rik A G 10: 69,048,191 (GRCm39) probably benign Het
Abcf3 G A 16: 20,378,053 (GRCm39) G522R probably damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Alg10b A G 15: 90,111,785 (GRCm39) K210E possibly damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
C9 G A 15: 6,488,415 (GRCm39) V90I probably benign Het
Cacna1s A G 1: 136,022,709 (GRCm39) I634V probably benign Het
Catip A G 1: 74,403,522 (GRCm39) D153G probably benign Het
Cpt1c G A 7: 44,610,348 (GRCm39) probably benign Het
Cyp2c23 A G 19: 44,002,102 (GRCm39) S296P probably damaging Het
Cyp2d41-ps G A 15: 82,663,718 (GRCm39) noncoding transcript Het
Edc4 T A 8: 106,619,014 (GRCm39) I1327N probably damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Filip1l A G 16: 57,391,652 (GRCm39) K509E possibly damaging Het
Golga4 A G 9: 118,394,719 (GRCm39) E96G probably damaging Het
Grid2ip T G 5: 143,371,851 (GRCm39) probably null Het
Gucy1a2 A C 9: 3,759,620 (GRCm39) E475D probably damaging Het
Hipk1 A G 3: 103,666,090 (GRCm39) probably benign Het
Ica1 G A 6: 8,742,262 (GRCm39) Q124* probably null Het
Igsf3 T C 3: 101,358,612 (GRCm39) probably null Het
Matn2 A G 15: 34,409,956 (GRCm39) E462G probably benign Het
Men1 T C 19: 6,389,921 (GRCm39) S464P probably benign Het
Mrgpra2b T A 7: 47,113,742 (GRCm39) E330V probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Nckap1 A G 2: 80,364,014 (GRCm39) M492T possibly damaging Het
Nhsl1 A T 10: 18,284,261 (GRCm39) K67N probably null Het
Nostrin A G 2: 69,019,406 (GRCm39) R484G probably benign Het
Or8g22 T A 9: 38,958,200 (GRCm39) I172F possibly damaging Het
Otog T A 7: 45,923,119 (GRCm39) probably benign Het
P2rx5 A G 11: 73,058,716 (GRCm39) Y300C probably damaging Het
Pi4ka A G 16: 17,115,401 (GRCm39) probably benign Het
Pld3 A G 7: 27,237,082 (GRCm39) S266P probably benign Het
Pole G A 5: 110,471,530 (GRCm39) V1425M possibly damaging Het
Prss43 A G 9: 110,656,510 (GRCm39) I66V probably benign Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Slc45a2 A G 15: 11,025,832 (GRCm39) Y394C probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Strip1 T C 3: 107,534,155 (GRCm39) S160G probably benign Het
Tbx2 A G 11: 85,724,318 (GRCm39) K129R probably benign Het
Tfr2 T C 5: 137,585,082 (GRCm39) probably benign Het
Thap12 T C 7: 98,352,645 (GRCm39) S17P probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tspear T C 10: 77,702,166 (GRCm39) F200L probably benign Het
Tspyl5 T A 15: 33,687,526 (GRCm39) R140W possibly damaging Het
Ttn T C 2: 76,606,002 (GRCm39) D18236G probably damaging Het
Upf2 G A 2: 5,965,800 (GRCm39) R140Q unknown Het
Vps4a T A 8: 107,763,276 (GRCm39) I10N possibly 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
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
Predicted Primers PCR Primer
(F):5'- CATCGGCGGGCAGAAAATCAAC -3'
(R):5'- CACTGGTAGCTGGAATTCATGGGAC -3'

Sequencing Primer
(F):5'- TGGGACCTGATGGGCAG -3'
(R):5'- AATTCATGGGACATCGTGCC -3'
Posted On 2014-03-17