Incidental Mutation 'IGL02528:Eprs'
ID297175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eprs
Ensembl Gene ENSMUSG00000026615
Gene Nameglutamyl-prolyl-tRNA synthetase
Synonyms2410081F06Rik, 3010002K18Rik, Qprs
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02528
Quality Score
Status
Chromosome1
Chromosomal Location185363044-185428360 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 185413489 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 1165 (R1165L)
Ref Sequence ENSEMBL: ENSMUSP00000045841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046514]
Predicted Effect probably damaging
Transcript: ENSMUST00000046514
AA Change: R1165L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: R1165L

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
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,271,976 V888A possibly damaging Het
4930544G11Rik T A 6: 65,953,373 probably benign Het
Abcc2 A G 19: 43,798,504 D188G probably benign Het
Akap11 T C 14: 78,510,867 Y1360C probably damaging Het
C920021L13Rik A G 3: 95,887,316 probably benign Het
Ccdc155 T C 7: 45,183,746 probably benign Het
Ccdc89 A T 7: 90,427,611 Q343L probably damaging Het
Cep350 A T 1: 155,894,615 M1843K probably damaging Het
Ces2b T C 8: 104,834,969 S232P probably damaging Het
Ercc5 A G 1: 44,167,802 E625G probably benign Het
Evi5l T C 8: 4,193,172 V352A probably benign Het
Ggt5 T C 10: 75,610,420 probably benign Het
Gm11564 T A 11: 99,815,467 R46* probably null Het
Gm14597 T A X: 53,578,825 N54I probably damaging Het
Herc2 A G 7: 56,108,893 probably benign Het
Kcnh8 A G 17: 52,803,528 S256G probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mast4 T C 13: 102,853,823 *255W probably null Het
Muc5b A G 7: 141,864,017 M3567V probably benign Het
Noxa1 A G 2: 25,090,633 probably benign Het
Nsd2 T C 5: 33,879,051 probably benign Het
Pcna-ps2 A T 19: 9,283,967 I197L probably benign Het
Pde8a A G 7: 81,293,189 probably benign Het
Polr1a C A 6: 71,964,717 Q1070K probably benign Het
Pum2 G T 12: 8,728,696 G449* probably null Het
Rab29 T C 1: 131,870,011 probably benign Het
Rpap1 T A 2: 119,774,950 probably null Het
Scn7a A G 2: 66,700,175 Y609H probably damaging Het
Slit3 T C 11: 35,578,974 S268P probably benign Het
Stat2 C T 10: 128,290,665 T753I probably benign Het
Susd6 T C 12: 80,870,171 V160A probably damaging Het
Tex52 A G 6: 128,379,497 E51G possibly damaging Het
Tmem102 T A 11: 69,803,706 probably null Het
Ttn A G 2: 76,890,238 probably benign Het
Ubtd2 T A 11: 32,499,249 L32* probably null Het
Usp38 T C 8: 80,993,235 Y455C probably damaging Het
Wwp2 T C 8: 107,554,467 F671L probably benign Het
Xlr3a T C X: 73,094,967 N29D possibly damaging Het
Zan T C 5: 137,465,141 E592G possibly damaging Het
Zmat4 T A 8: 24,015,196 S151T probably damaging Het
Znfx1 T C 2: 167,050,404 T631A probably benign Het
Other mutations in Eprs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00528:Eprs APN 1 185407148 missense probably benign 0.11
IGL00532:Eprs APN 1 185407148 missense probably benign 0.11
IGL00543:Eprs APN 1 185407148 missense probably benign 0.11
IGL00553:Eprs APN 1 185407148 missense probably benign 0.11
IGL00574:Eprs APN 1 185407148 missense probably benign 0.11
IGL00583:Eprs APN 1 185407148 missense probably benign 0.11
IGL00946:Eprs APN 1 185407701 missense probably benign 0.02
IGL01062:Eprs APN 1 185379615 missense probably benign 0.19
IGL01477:Eprs APN 1 185411375 splice site probably benign
IGL01608:Eprs APN 1 185385114 unclassified probably benign
IGL01767:Eprs APN 1 185384915 missense probably damaging 0.98
IGL02136:Eprs APN 1 185384983 missense probably damaging 1.00
IGL02302:Eprs APN 1 185387124 splice site probably benign
IGL02631:Eprs APN 1 185427898 missense probably damaging 1.00
IGL02989:Eprs APN 1 185418366 missense probably benign 0.31
IGL03004:Eprs APN 1 185381833 missense probably damaging 1.00
R0003:Eprs UTSW 1 185414391 missense probably damaging 1.00
R0003:Eprs UTSW 1 185414391 missense probably damaging 1.00
R0179:Eprs UTSW 1 185413547 missense probably benign
R0783:Eprs UTSW 1 185398458 missense probably damaging 1.00
R1319:Eprs UTSW 1 185384962 missense probably damaging 1.00
R1335:Eprs UTSW 1 185387089 missense probably damaging 1.00
R1514:Eprs UTSW 1 185381834 missense probably damaging 0.99
R1590:Eprs UTSW 1 185401510 missense probably damaging 1.00
R1688:Eprs UTSW 1 185384896 missense probably damaging 0.99
R1725:Eprs UTSW 1 185406992 missense probably damaging 1.00
R2182:Eprs UTSW 1 185379742 splice site probably null
R2228:Eprs UTSW 1 185367537 missense probably damaging 1.00
R2336:Eprs UTSW 1 185411374 splice site probably benign
R2338:Eprs UTSW 1 185415808 missense probably damaging 1.00
R2439:Eprs UTSW 1 185379742 splice site probably null
R2914:Eprs UTSW 1 185379742 splice site probably null
R3001:Eprs UTSW 1 185424391 critical splice donor site probably null
R3002:Eprs UTSW 1 185424391 critical splice donor site probably null
R3003:Eprs UTSW 1 185424391 critical splice donor site probably null
R3547:Eprs UTSW 1 185379742 splice site probably null
R3775:Eprs UTSW 1 185373008 missense probably damaging 1.00
R3878:Eprs UTSW 1 185415953 critical splice donor site probably null
R3902:Eprs UTSW 1 185379742 splice site probably null
R3913:Eprs UTSW 1 185379742 splice site probably null
R4579:Eprs UTSW 1 185401607 missense probably damaging 1.00
R4664:Eprs UTSW 1 185373076 intron probably benign
R4680:Eprs UTSW 1 185386278 missense possibly damaging 0.87
R4712:Eprs UTSW 1 185428108 missense probably benign 0.00
R4749:Eprs UTSW 1 185396130 missense probably damaging 0.97
R4995:Eprs UTSW 1 185410139 intron probably benign
R5154:Eprs UTSW 1 185413465 missense probably damaging 1.00
R5640:Eprs UTSW 1 185374184 missense probably benign 0.34
R5662:Eprs UTSW 1 185394425 missense possibly damaging 0.72
R6037:Eprs UTSW 1 185396109 missense probably damaging 1.00
R6037:Eprs UTSW 1 185396109 missense probably damaging 1.00
R6151:Eprs UTSW 1 185407754 critical splice donor site probably null
R6387:Eprs UTSW 1 185387084 missense possibly damaging 0.94
R6647:Eprs UTSW 1 185414424 missense probably damaging 1.00
R6701:Eprs UTSW 1 185370890 missense probably damaging 0.99
R6997:Eprs UTSW 1 185396163 missense possibly damaging 0.50
R7295:Eprs UTSW 1 185418210 critical splice acceptor site probably null
R7305:Eprs UTSW 1 185379701 missense probably damaging 1.00
R7729:Eprs UTSW 1 185413169 missense probably damaging 1.00
R7732:Eprs UTSW 1 185372939 missense probably benign 0.01
R7733:Eprs UTSW 1 185397161 missense probably benign
R7826:Eprs UTSW 1 185406968 missense probably damaging 0.96
Posted On2015-04-16