Incidental Mutation 'R0003:Eprs1'
ID 32287
Institutional Source Beutler Lab
Gene Symbol Eprs1
Ensembl Gene ENSMUSG00000026615
Gene Name glutamyl-prolyl-tRNA synthetase 1
Synonyms 3010002K18Rik, 2410081F06Rik, Qprs, Eprs
MMRRC Submission 038299-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0003 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 185095241-185160557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 185146588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1206 (V1206A)
Ref Sequence ENSEMBL: ENSMUSP00000045841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046514]
AlphaFold Q8CGC7
Predicted Effect probably damaging
Transcript: ENSMUST00000046514
AA Change: V1206A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: V1206A

DomainStartEndE-ValueType
Pfam:GST_C_3 71 156 2.1e-15 PFAM
Pfam:GST_C 72 157 2.9e-7 PFAM
Pfam:tRNA-synt_1c 197 502 8.8e-127 PFAM
Pfam:tRNA-synt_1c_C 504 681 4.4e-42 PFAM
WHEP-TRS 753 815 1.26e-25 SMART
WHEP-TRS 826 888 1.47e-26 SMART
WHEP-TRS 904 966 3.76e-24 SMART
low complexity region 984 1011 N/A INTRINSIC
Pfam:tRNA-synt_2b 1107 1287 3.1e-17 PFAM
Pfam:HGTP_anticodon 1303 1404 1.7e-19 PFAM
ProRS-C_1 1430 1512 5.27e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192284
Meta Mutation Damage Score 0.2033 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.7%
Validation Efficiency 94% (82/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit normal body weight, life span and glucose metabolism. Mice homozygous for a phospho-deficient allele exhibit decrease body weight, enhanced lipolysis, altered glucose metabolism and increased energy expenditure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T A 11: 46,019,616 (GRCm39) C439S probably damaging Het
Adnp2 T C 18: 80,174,205 (GRCm39) Y68C probably damaging Het
Ahctf1 A T 1: 179,591,038 (GRCm39) D1247E probably benign Het
Alms1 T A 6: 85,606,192 (GRCm39) M2614K possibly damaging Het
Alx3 A G 3: 107,512,292 (GRCm39) H310R probably damaging Het
Ambra1 C T 2: 91,741,773 (GRCm39) T1016M probably damaging Het
Ankrd35 A G 3: 96,591,331 (GRCm39) E539G probably damaging Het
Aptx A G 4: 40,695,145 (GRCm39) probably benign Het
Arsi C T 18: 61,050,058 (GRCm39) R314C probably benign Het
Atp1a3 T C 7: 24,688,989 (GRCm39) probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bicra G T 7: 15,705,812 (GRCm39) T1543K probably benign Het
Bltp2 T A 11: 78,177,404 (GRCm39) V1903E possibly damaging Het
Bzw2 A C 12: 36,180,014 (GRCm39) I71S probably damaging Het
Camk2a C T 18: 61,093,079 (GRCm39) A302V probably damaging Het
Ccdc12 A G 9: 110,485,665 (GRCm39) E12G possibly damaging Het
Cd300lb A T 11: 114,819,164 (GRCm39) F19Y probably benign Het
Clcn3 A T 8: 61,380,330 (GRCm39) C535* probably null Het
Cntnap5c A G 17: 58,506,012 (GRCm39) T679A probably benign Het
Cpsf7 G A 19: 10,516,993 (GRCm39) S365N possibly damaging Het
Cspg4b T A 13: 113,505,310 (GRCm39) S2146R probably benign Het
Cyp20a1 T C 1: 60,426,285 (GRCm39) probably benign Het
Decr2 A T 17: 26,302,027 (GRCm39) N234K probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dnah12 T C 14: 26,494,601 (GRCm39) F1300L probably damaging Het
Dock1 T C 7: 134,331,793 (GRCm39) probably benign Het
Dpy19l4 A T 4: 11,267,619 (GRCm39) N440K probably damaging Het
Exoc6b A G 6: 84,831,681 (GRCm39) probably null Het
Fam184b A G 5: 45,712,536 (GRCm39) probably benign Het
Fcho1 A T 8: 72,161,597 (GRCm39) S858T probably damaging Het
Fgfr1 A G 8: 26,058,214 (GRCm39) D430G possibly damaging Het
Fmnl3 T C 15: 99,219,013 (GRCm39) T807A probably damaging Het
Gabra5 T C 7: 57,063,476 (GRCm39) Y316C probably damaging Het
Gh A G 11: 106,192,346 (GRCm39) L16P probably damaging Het
Glipr2 A T 4: 43,970,532 (GRCm39) I87F probably damaging Het
Glrb T A 3: 80,763,221 (GRCm39) I259F probably damaging Het
Gpr63 T C 4: 25,007,651 (GRCm39) L125P probably damaging Het
Grb2 A G 11: 115,546,251 (GRCm39) Y37H probably damaging Het
Haus2 G A 2: 120,449,449 (GRCm39) probably benign Het
Hmgcr T C 13: 96,788,653 (GRCm39) N749S probably damaging Het
Igf1r T C 7: 67,814,990 (GRCm39) V297A probably damaging Het
Il12rb2 G T 6: 67,293,270 (GRCm39) P69H probably damaging Het
Ints3 C A 3: 90,315,818 (GRCm39) M315I probably benign Het
Izumo2 C T 7: 44,364,833 (GRCm39) T116I probably benign Het
Kctd19 A C 8: 106,121,993 (GRCm39) Y185D probably damaging Het
Lama4 A G 10: 38,936,218 (GRCm39) N631S possibly damaging Het
Lama5 T G 2: 179,819,872 (GRCm39) probably null Het
Lamc1 A C 1: 153,138,185 (GRCm39) L223R probably damaging Het
Lgr4 G A 2: 109,828,010 (GRCm39) probably null Het
Loxhd1 T C 18: 77,427,196 (GRCm39) L398P probably damaging Het
Mapk9 T A 11: 49,757,866 (GRCm39) D103E possibly damaging Het
Marchf6 T C 15: 31,469,678 (GRCm39) probably benign Het
Mlxipl G A 5: 135,162,043 (GRCm39) probably benign Het
Mrgbp C A 2: 180,225,231 (GRCm39) D62E probably benign Het
Mtap A T 4: 89,070,235 (GRCm39) probably benign Het
Myt1 G A 2: 181,443,664 (GRCm39) G497S probably damaging Het
Naa25 T G 5: 121,545,247 (GRCm39) probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nkpd1 T C 7: 19,253,852 (GRCm39) C73R probably benign Het
Nup210l T C 3: 90,027,218 (GRCm39) I200T probably damaging Het
Nvl C A 1: 180,941,698 (GRCm39) D581Y probably damaging Het
Or51a6 T C 7: 102,604,185 (GRCm39) M208V probably benign Het
Or51f2 T C 7: 102,527,068 (GRCm39) V247A probably benign Het
Or5t17 T A 2: 86,832,710 (GRCm39) Y132* probably null Het
Or8b1c A G 9: 38,384,612 (GRCm39) T190A probably benign Het
Or9q1 T C 19: 13,805,050 (GRCm39) T237A probably damaging Het
Pcdh7 G T 5: 58,070,590 (GRCm39) E1089D probably benign Het
Pik3cd A G 4: 149,740,836 (GRCm39) probably null Het
Plekhh2 A T 17: 84,864,820 (GRCm39) K69N probably damaging Het
Ptgdr2 G A 19: 10,917,792 (GRCm39) C103Y probably damaging Het
Rrad A C 8: 105,355,299 (GRCm39) H236Q probably benign Het
Rslcan18 C T 13: 67,246,533 (GRCm39) A236T probably benign Het
Ryr2 C A 13: 11,839,265 (GRCm39) D503Y probably damaging Het
Siglec1 T C 2: 130,916,980 (GRCm39) T1092A probably benign Het
Siglecf A G 7: 43,005,350 (GRCm39) T437A probably benign Het
Spta1 A T 1: 174,032,839 (GRCm39) Q965H probably damaging Het
Stk10 A T 11: 32,539,460 (GRCm39) E280V probably benign Het
Tfg T C 16: 56,511,351 (GRCm39) Y326C possibly damaging Het
Tpp2 T A 1: 43,999,299 (GRCm39) S358T possibly damaging Het
Trim25 G T 11: 88,906,598 (GRCm39) V437L probably benign Het
Ttn T C 2: 76,574,027 (GRCm39) D25622G probably damaging Het
Ube3b T A 5: 114,536,912 (GRCm39) S303R probably benign Het
Ush2a T A 1: 188,310,688 (GRCm39) V2088D probably damaging Het
Vmn2r103 A G 17: 20,032,241 (GRCm39) T672A probably damaging Het
Wdr11 G T 7: 129,200,785 (GRCm39) G79C probably damaging Het
Wdr89 T A 12: 75,679,367 (GRCm39) T296S probably benign Het
Zdhhc24 T A 19: 4,930,402 (GRCm39) L179M possibly damaging Het
Zfp981 T C 4: 146,622,217 (GRCm39) C381R probably damaging Het
Zim1 A G 7: 6,679,947 (GRCm39) I572T probably benign Het
Other mutations in Eprs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00528:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00532:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00543:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00553:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00574:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00583:Eprs1 APN 1 185,139,345 (GRCm39) missense probably benign 0.11
IGL00946:Eprs1 APN 1 185,139,898 (GRCm39) missense probably benign 0.02
IGL01062:Eprs1 APN 1 185,111,812 (GRCm39) missense probably benign 0.19
IGL01477:Eprs1 APN 1 185,143,572 (GRCm39) splice site probably benign
IGL01608:Eprs1 APN 1 185,117,311 (GRCm39) unclassified probably benign
IGL01767:Eprs1 APN 1 185,117,112 (GRCm39) missense probably damaging 0.98
IGL02136:Eprs1 APN 1 185,117,180 (GRCm39) missense probably damaging 1.00
IGL02302:Eprs1 APN 1 185,119,321 (GRCm39) splice site probably benign
IGL02528:Eprs1 APN 1 185,145,686 (GRCm39) missense probably damaging 1.00
IGL02631:Eprs1 APN 1 185,160,095 (GRCm39) missense probably damaging 1.00
IGL02989:Eprs1 APN 1 185,150,563 (GRCm39) missense probably benign 0.31
IGL03004:Eprs1 APN 1 185,114,030 (GRCm39) missense probably damaging 1.00
R0003:Eprs1 UTSW 1 185,146,588 (GRCm39) missense probably damaging 1.00
R0179:Eprs1 UTSW 1 185,145,744 (GRCm39) missense probably benign
R0783:Eprs1 UTSW 1 185,130,655 (GRCm39) missense probably damaging 1.00
R1319:Eprs1 UTSW 1 185,117,159 (GRCm39) missense probably damaging 1.00
R1335:Eprs1 UTSW 1 185,119,286 (GRCm39) missense probably damaging 1.00
R1514:Eprs1 UTSW 1 185,114,031 (GRCm39) missense probably damaging 0.99
R1590:Eprs1 UTSW 1 185,133,707 (GRCm39) missense probably damaging 1.00
R1688:Eprs1 UTSW 1 185,117,093 (GRCm39) missense probably damaging 0.99
R1725:Eprs1 UTSW 1 185,139,189 (GRCm39) missense probably damaging 1.00
R2182:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R2228:Eprs1 UTSW 1 185,099,734 (GRCm39) missense probably damaging 1.00
R2336:Eprs1 UTSW 1 185,143,571 (GRCm39) splice site probably benign
R2338:Eprs1 UTSW 1 185,148,005 (GRCm39) missense probably damaging 1.00
R2439:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R2914:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R3001:Eprs1 UTSW 1 185,156,588 (GRCm39) critical splice donor site probably null
R3002:Eprs1 UTSW 1 185,156,588 (GRCm39) critical splice donor site probably null
R3003:Eprs1 UTSW 1 185,156,588 (GRCm39) critical splice donor site probably null
R3547:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R3775:Eprs1 UTSW 1 185,105,205 (GRCm39) missense probably damaging 1.00
R3878:Eprs1 UTSW 1 185,148,150 (GRCm39) critical splice donor site probably null
R3902:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R3913:Eprs1 UTSW 1 185,111,939 (GRCm39) splice site probably null
R4579:Eprs1 UTSW 1 185,133,804 (GRCm39) missense probably damaging 1.00
R4664:Eprs1 UTSW 1 185,105,273 (GRCm39) intron probably benign
R4680:Eprs1 UTSW 1 185,118,475 (GRCm39) missense possibly damaging 0.87
R4712:Eprs1 UTSW 1 185,160,305 (GRCm39) missense probably benign 0.00
R4749:Eprs1 UTSW 1 185,128,327 (GRCm39) missense probably damaging 0.97
R4995:Eprs1 UTSW 1 185,142,336 (GRCm39) intron probably benign
R5154:Eprs1 UTSW 1 185,145,662 (GRCm39) missense probably damaging 1.00
R5640:Eprs1 UTSW 1 185,106,381 (GRCm39) missense probably benign 0.34
R5662:Eprs1 UTSW 1 185,126,622 (GRCm39) missense possibly damaging 0.72
R6037:Eprs1 UTSW 1 185,128,306 (GRCm39) missense probably damaging 1.00
R6037:Eprs1 UTSW 1 185,128,306 (GRCm39) missense probably damaging 1.00
R6151:Eprs1 UTSW 1 185,139,951 (GRCm39) critical splice donor site probably null
R6387:Eprs1 UTSW 1 185,119,281 (GRCm39) missense possibly damaging 0.94
R6647:Eprs1 UTSW 1 185,146,621 (GRCm39) missense probably damaging 1.00
R6701:Eprs1 UTSW 1 185,103,087 (GRCm39) missense probably damaging 0.99
R6997:Eprs1 UTSW 1 185,128,360 (GRCm39) missense possibly damaging 0.50
R7295:Eprs1 UTSW 1 185,150,407 (GRCm39) critical splice acceptor site probably null
R7305:Eprs1 UTSW 1 185,111,898 (GRCm39) missense probably damaging 1.00
R7729:Eprs1 UTSW 1 185,145,366 (GRCm39) missense probably damaging 1.00
R7732:Eprs1 UTSW 1 185,105,136 (GRCm39) missense probably benign 0.01
R7733:Eprs1 UTSW 1 185,129,358 (GRCm39) missense probably benign
R7826:Eprs1 UTSW 1 185,139,165 (GRCm39) missense probably damaging 0.96
R7988:Eprs1 UTSW 1 185,150,545 (GRCm39) missense probably damaging 1.00
R8071:Eprs1 UTSW 1 185,126,653 (GRCm39) missense possibly damaging 0.67
R8157:Eprs1 UTSW 1 185,130,591 (GRCm39) missense probably benign 0.21
R8209:Eprs1 UTSW 1 185,139,812 (GRCm39) missense possibly damaging 0.71
R8370:Eprs1 UTSW 1 185,131,454 (GRCm39) missense probably damaging 0.98
R8493:Eprs1 UTSW 1 185,139,371 (GRCm39) nonsense probably null
R8556:Eprs1 UTSW 1 185,152,485 (GRCm39) critical splice donor site probably null
R8877:Eprs1 UTSW 1 185,148,071 (GRCm39) nonsense probably null
R9096:Eprs1 UTSW 1 185,139,303 (GRCm39) missense probably benign 0.03
R9097:Eprs1 UTSW 1 185,139,303 (GRCm39) missense probably benign 0.03
R9112:Eprs1 UTSW 1 185,129,273 (GRCm39) missense probably damaging 1.00
R9189:Eprs1 UTSW 1 185,106,334 (GRCm39) missense possibly damaging 0.89
R9489:Eprs1 UTSW 1 185,139,896 (GRCm39) missense probably benign 0.00
R9489:Eprs1 UTSW 1 185,139,895 (GRCm39) missense probably benign 0.20
R9518:Eprs1 UTSW 1 185,111,763 (GRCm39) missense probably benign 0.00
R9586:Eprs1 UTSW 1 185,139,746 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCTTCTTTAGCCTTCCCACAAGGTG -3'
(R):5'- TCCCCAGAGAGCTGGAATTATAGGCG -3'

Sequencing Primer
(F):5'- CCCACAAGGTGGTTGTTTGAAG -3'
(R):5'- attctctccgacatccaaataaac -3'
Posted On 2013-05-09