Incidental Mutation 'R3003:Eprs1'
ID 257356
Institutional Source Beutler Lab
Gene Symbol Eprs1
Ensembl Gene ENSMUSG00000026615
Gene Name glutamyl-prolyl-tRNA synthetase 1
Synonyms 3010002K18Rik, 2410081F06Rik, Qprs, Eprs
MMRRC Submission 040532-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3003 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 185095241-185160557 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 185156588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046514]
AlphaFold Q8CGC7
Predicted Effect probably null
Transcript: ENSMUST00000046514
SMART Domains Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615

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: ENSMUST00000143787
Meta Mutation Damage Score 0.9589 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,254,393 (GRCm39) V568A probably damaging Het
Acd C T 8: 106,426,913 (GRCm39) probably null Het
Acly T C 11: 100,395,053 (GRCm39) K469E possibly damaging Het
Adh6b G T 3: 138,063,532 (GRCm39) L248F possibly damaging Het
Atg9b G T 5: 24,596,217 (GRCm39) D192E probably damaging Het
Ccdc180 A G 4: 45,899,988 (GRCm39) D182G probably benign Het
Cep112 A G 11: 108,331,329 (GRCm39) E178G probably damaging Het
Clptm1l C T 13: 73,765,875 (GRCm39) T471I possibly damaging Het
Csmd1 A G 8: 16,246,184 (GRCm39) F1072L probably damaging Het
Il27ra G T 8: 84,758,660 (GRCm39) S499* probably null Het
Klk1b11 T C 7: 43,426,419 (GRCm39) I51T probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Mprip A G 11: 59,618,381 (GRCm39) T91A possibly damaging Het
Pfpl T C 19: 12,407,690 (GRCm39) I647T possibly damaging Het
Plxnc1 A T 10: 94,629,080 (GRCm39) F1565I probably damaging Het
Prr5 G T 15: 84,656,031 (GRCm39) C344F probably damaging Het
Rnf17 T C 14: 56,738,004 (GRCm39) W1262R probably damaging Het
Rptor G A 11: 119,763,197 (GRCm39) R927Q possibly damaging Het
Slitrk5 A G 14: 111,917,014 (GRCm39) K213E probably damaging Het
Smarcd1 C A 15: 99,610,065 (GRCm39) P432Q probably damaging Het
Stat4 A G 1: 52,142,145 (GRCm39) D664G probably damaging Het
Suz12 T A 11: 79,910,587 (GRCm39) W313R probably damaging Het
Sycp2 T C 2: 177,999,916 (GRCm39) Y1020C probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem81 A G 1: 132,435,752 (GRCm39) N186S probably benign Het
Tut4 G A 4: 108,370,125 (GRCm39) E714K probably damaging Het
Vmn2r98 A G 17: 19,286,125 (GRCm39) M208V 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
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
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'- AAAGGTAGCTGGCTTATCTGTG -3'
(R):5'- CCATCATTTTGATTGGCTGGC -3'

Sequencing Primer
(F):5'- TTATCTGTGGCCGCCGCTAG -3'
(R):5'- TTGATTGGCTGGCTTAAAAAGAG -3'
Posted On 2015-01-11