Incidental Mutation 'R3913:Eprs1'
ID 309489
Institutional Source Beutler Lab
Gene Symbol Eprs1
Ensembl Gene ENSMUSG00000026615
Gene Name glutamyl-prolyl-tRNA synthetase 1
Synonyms 3010002K18Rik, 2410081F06Rik, Qprs, Eprs
MMRRC Submission 040911-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3913 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 185095241-185160557 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 185111939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046514] [ENSMUST00000191900] [ENSMUST00000195824]
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 probably benign
Transcript: ENSMUST00000191900
SMART Domains Protein: ENSMUSP00000141467
Gene: ENSMUSG00000026615

DomainStartEndE-ValueType
Pfam:GST_C 66 131 1.7e-4 PFAM
Pfam:GST_C_3 70 131 8.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193788
Predicted Effect probably benign
Transcript: ENSMUST00000195824
SMART Domains Protein: ENSMUSP00000141550
Gene: ENSMUSG00000026615

DomainStartEndE-ValueType
Pfam:GST_C 33 96 8.4e-5 PFAM
Pfam:GST_C_3 35 96 3.9e-11 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (59/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Adra1d T A 2: 131,404,075 (GRCm39) D5V probably damaging Het
Arid1b A G 17: 5,392,532 (GRCm39) I2021V possibly damaging Het
Birc6 A T 17: 74,880,608 (GRCm39) R462* probably null Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Crybg1 T C 10: 43,874,759 (GRCm39) D783G possibly damaging Het
Dcaf15 T C 8: 84,825,794 (GRCm39) Y271C probably damaging Het
Dcun1d2 A C 8: 13,331,082 (GRCm39) M16R probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnttip2 T C 3: 122,069,040 (GRCm39) V85A possibly damaging Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Gdpd5 A G 7: 99,087,546 (GRCm39) D70G probably null Het
Glyr1 A G 16: 4,849,777 (GRCm39) F199L probably damaging Het
Golga4 T A 9: 118,368,039 (GRCm39) M414K probably damaging Het
Gpr132 C A 12: 112,816,640 (GRCm39) W62L probably benign Het
Gpr179 A T 11: 97,225,591 (GRCm39) V2188E probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kcnab2 A G 4: 152,479,689 (GRCm39) V187A probably damaging Het
Kcnj15 C T 16: 95,097,329 (GRCm39) T317I probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl30 T C 1: 91,287,166 (GRCm39) V484A possibly damaging Het
Krt90 G A 15: 101,471,218 (GRCm39) R15W probably damaging Het
Liph G T 16: 21,781,009 (GRCm39) probably benign Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Maml1 T C 11: 50,154,259 (GRCm39) T602A probably benign Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mei4 A G 9: 81,772,316 (GRCm39) K43R probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mst1r G A 9: 107,791,945 (GRCm39) R827Q probably benign Het
Olfm1 A G 2: 28,098,186 (GRCm39) T83A possibly damaging Het
Or1e30 G T 11: 73,678,522 (GRCm39) G253W probably damaging Het
Or5m10b T C 2: 85,699,115 (GRCm39) Y60H probably damaging Het
Parp4 A G 14: 56,857,975 (GRCm39) E869G probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Patj A G 4: 98,457,338 (GRCm39) D1280G probably damaging Het
Ppargc1b T C 18: 61,444,447 (GRCm39) S255G probably damaging Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Robo2 A T 16: 73,831,893 (GRCm39) D262E probably damaging Het
Sec14l5 A G 16: 4,965,720 (GRCm39) probably benign Het
Sema4b A G 7: 79,870,222 (GRCm39) S467G probably benign Het
Setd2 C T 9: 110,380,114 (GRCm39) R1310C probably damaging Het
Sh3d19 T C 3: 85,992,083 (GRCm39) I37T probably damaging Het
Slc23a3 T A 1: 75,105,566 (GRCm39) I422F probably benign Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Son A T 16: 91,456,999 (GRCm39) probably benign Het
Tnks A T 8: 35,340,228 (GRCm39) S463R probably damaging Het
Tubb3 A G 8: 124,147,748 (GRCm39) H227R possibly damaging Het
Tyw1 T A 5: 130,287,876 (GRCm39) V36D probably damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Zdhhc8 A G 16: 18,044,587 (GRCm39) L311P possibly damaging 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
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
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'- TCTTGGAAGATGTTGCAATGC -3'
(R):5'- ATACAGCTCTGAGAAGCTGCAC -3'

Sequencing Primer
(F):5'- CAATGCTGCATATTAAACCAGATCAG -3'
(R):5'- TCCTAACACTTACGAGGCTGAGG -3'
Posted On 2015-04-17