Incidental Mutation 'R6701:Eprs1'
ID 528712
Institutional Source Beutler Lab
Gene Symbol Eprs1
Ensembl Gene ENSMUSG00000026615
Gene Name glutamyl-prolyl-tRNA synthetase 1
Synonyms 3010002K18Rik, 2410081F06Rik, Qprs, Eprs
MMRRC Submission 044819-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6701 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 185095241-185160557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 185103087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 78 (I78S)
Ref Sequence ENSEMBL: ENSMUSP00000045841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046514] [ENSMUST00000191900] [ENSMUST00000195824]
AlphaFold Q8CGC7
Predicted Effect probably damaging
Transcript: ENSMUST00000046514
AA Change: I78S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: I78S

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 possibly damaging
Transcript: ENSMUST00000191900
AA Change: I78S

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141467
Gene: ENSMUSG00000026615
AA Change: I78S

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: ENSMUST00000192324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194157
Predicted Effect possibly damaging
Transcript: ENSMUST00000195824
AA Change: I43S

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141550
Gene: ENSMUSG00000026615
AA Change: I43S

DomainStartEndE-ValueType
Pfam:GST_C 33 96 8.4e-5 PFAM
Pfam:GST_C_3 35 96 3.9e-11 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 96.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A T 10: 4,305,243 (GRCm39) K684N probably damaging Het
Akna C T 4: 63,313,517 (GRCm39) G202D probably benign Het
Alpk1 T A 3: 127,522,985 (GRCm39) D19V probably damaging Het
Arid4a A T 12: 71,134,286 (GRCm39) K1196I probably damaging Het
Asic3 A T 5: 24,619,127 (GRCm39) M140L possibly damaging Het
Bfsp2 C T 9: 103,357,077 (GRCm39) V117M possibly damaging Het
Bltp3a T A 17: 28,106,331 (GRCm39) C952* probably null Het
Cd244a C A 1: 171,401,723 (GRCm39) L150M possibly damaging Het
Cd3e T C 9: 44,912,351 (GRCm39) Y131C probably damaging Het
Clptm1l T C 13: 73,757,025 (GRCm39) I202T probably benign Het
Cnot4 G T 6: 35,045,539 (GRCm39) T224K probably damaging Het
Col24a1 A G 3: 145,020,141 (GRCm39) T171A probably benign Het
Col6a3 C T 1: 90,720,184 (GRCm39) R1552Q probably benign Het
Dcc T A 18: 71,942,191 (GRCm39) T309S probably benign Het
Ddx21 T C 10: 62,426,470 (GRCm39) Y461C probably damaging Het
Dnah10 G A 5: 124,837,223 (GRCm39) V989M probably benign Het
Dppa4 A T 16: 48,111,674 (GRCm39) K220* probably null Het
Dysf G A 6: 84,089,172 (GRCm39) G912S probably damaging Het
Efhb A T 17: 53,706,091 (GRCm39) N815K probably benign Het
Eml6 T A 11: 29,735,748 (GRCm39) L1139F probably damaging Het
Fat1 C A 8: 45,403,718 (GRCm39) S156R probably damaging Het
Firrm T C 1: 163,799,412 (GRCm39) probably null Het
Frzb G A 2: 80,277,163 (GRCm39) R8W possibly damaging Het
Guf1 T A 5: 69,715,596 (GRCm39) D47E probably damaging Het
Haus3 A T 5: 34,325,078 (GRCm39) F194I probably damaging Het
Hivep3 C T 4: 119,951,737 (GRCm39) R18W probably damaging Het
Hnf1b A G 11: 83,779,920 (GRCm39) T392A probably damaging Het
Hsd17b1 C A 11: 100,970,981 (GRCm39) C312* probably null Het
Ighg2b T C 12: 113,270,699 (GRCm39) T144A unknown Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Irag2 G T 6: 145,090,702 (GRCm39) E61* probably null Het
Jhy T C 9: 40,828,887 (GRCm39) R340G probably damaging Het
Klra3 C G 6: 130,307,216 (GRCm39) V144L probably benign Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Lrrc4 A G 6: 28,830,905 (GRCm39) F237L possibly damaging Het
Lyst T A 13: 13,856,070 (GRCm39) C2464S probably benign Het
Maml1 T C 11: 50,157,509 (GRCm39) E222G probably damaging Het
Med15 C T 16: 17,489,447 (GRCm39) probably benign Het
Naalad2 T C 9: 18,296,444 (GRCm39) I69V probably null Het
Neb T C 2: 52,181,220 (GRCm39) K1129R probably damaging Het
Nsun6 A T 2: 15,041,113 (GRCm39) N159K probably benign Het
Nup153 A T 13: 46,840,541 (GRCm39) N1022K probably benign Het
Or1e29 T C 11: 73,667,296 (GRCm39) N286D probably damaging Het
Or5g9 A G 2: 85,552,675 (GRCm39) K309E probably benign Het
Or5w15 C T 2: 87,567,753 (GRCm39) R305K probably benign Het
Otof T A 5: 30,528,141 (GRCm39) K1901* probably null Het
Pde1c A T 6: 56,158,685 (GRCm39) Y136N probably damaging Het
Phc1 G T 6: 122,302,733 (GRCm39) N263K probably damaging Het
Plxna1 A T 6: 89,296,430 (GRCm39) D1871E probably damaging Het
Prdm6 T A 18: 53,669,751 (GRCm39) M123K possibly damaging Het
Ranbp17 T C 11: 33,425,066 (GRCm39) D430G probably damaging Het
Rsl24d1 C A 9: 73,022,279 (GRCm39) T287K probably damaging Het
Scn1a G A 2: 66,168,304 (GRCm39) R101W probably damaging Het
Scn8a A G 15: 100,937,977 (GRCm39) D1741G probably damaging Het
Serpinb1c T C 13: 33,080,924 (GRCm39) Q53R probably benign Het
Serpinf2 C T 11: 75,323,269 (GRCm39) R479H probably damaging Het
Sis T A 3: 72,856,860 (GRCm39) D448V probably damaging Het
Slc27a6 T A 18: 58,712,947 (GRCm39) D256E probably benign Het
Slc30a8 A G 15: 52,194,970 (GRCm39) Y243C possibly damaging Het
Slc35f5 T C 1: 125,490,347 (GRCm39) V103A probably damaging Het
Slc44a2 T C 9: 21,232,149 (GRCm39) probably null Het
Slc7a9 T C 7: 35,159,274 (GRCm39) L327P probably damaging Het
Stat4 A G 1: 52,142,133 (GRCm39) Y660C probably damaging Het
Terb1 T C 8: 105,199,388 (GRCm39) T519A possibly damaging Het
Tonsl A T 15: 76,513,500 (GRCm39) S1245T probably damaging Het
Ttn A T 2: 76,619,162 (GRCm39) S16072R probably damaging Het
Ttn A T 2: 76,739,590 (GRCm39) Y3650N probably benign Het
Uso1 T C 5: 92,314,444 (GRCm39) F117S probably damaging Het
Vmn1r211 T C 13: 23,035,779 (GRCm39) H296R probably benign Het
Vmn2r67 G A 7: 84,802,023 (GRCm39) P93S probably damaging Het
Xirp2 A T 2: 67,346,569 (GRCm39) I2937F possibly damaging Het
Zc2hc1c C A 12: 85,336,446 (GRCm39) probably null Het
Zfp12 T C 5: 143,230,219 (GRCm39) V182A probably benign Het
Zfp473 G T 7: 44,382,218 (GRCm39) A705D possibly damaging Het
Zfp937 G T 2: 150,081,136 (GRCm39) G389C probably damaging Het
Zfp990 A G 4: 145,264,748 (GRCm39) D582G 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
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
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'- TGACCTTTCATGTACCTGGC -3'
(R):5'- GAGGAGCTGTTAATACCTTTTAGGG -3'

Sequencing Primer
(F):5'- TGGCATATTAGATCCAGAGTAGC -3'
(R):5'- AATACCTTTTAGGGTGGCCC -3'
Posted On 2018-07-24