Mutagenetix > Incidental Mutation

Incidental Mutation 'R4680:Eprs1'

349969

Institutional Source

Beutler Lab

Gene Symbol

Eprs1

Ensembl Gene

ENSMUSG00000026615

Gene Name

glutamyl-prolyl-tRNA synthetase 1

Synonyms

3010002K18Rik, 2410081F06Rik, Qprs, Eprs

MMRRC Submission

041933-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4680 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

185095241-185160557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 185118475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 461 (V461A)

Ref Sequence

ENSEMBL: ENSMUSP00000045841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046514] [ENSMUST00000191900]

AlphaFold

Q8CGC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046514
AA Change: V461A

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: V461A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.6506

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

96% (48/50)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,315,390 (GRCm39)	L96Q	probably damaging	Het
4931414P19Rik	T	C	14: 54,822,533 (GRCm39)	Y368C	probably damaging	Het
Acin1	T	C	14: 54,924,215 (GRCm39)	N8S	probably benign	Het
Aspm	T	C	1: 139,408,409 (GRCm39)	V2432A	probably benign	Het
Atf2	A	T	2: 73,659,025 (GRCm39)		probably null	Het
B3gnt2	A	G	11: 22,787,105 (GRCm39)	S28P	probably damaging	Het
Chil5	A	G	3: 105,942,191 (GRCm39)		probably benign	Het
Crybg2	CTTCCAGAGCCATGGACCCATCTTTTCCA	CTTCCA	4: 133,800,029 (GRCm39)		probably null	Het
Dennd3	A	T	15: 73,405,225 (GRCm39)	H326L	possibly damaging	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Fhad1	G	A	4: 141,738,858 (GRCm39)	Q31*	probably null	Het
Gpr26	A	G	7: 131,576,082 (GRCm39)	T249A	probably benign	Het
Gtf2ird1	T	A	5: 134,386,735 (GRCm39)	M958L	probably damaging	Het
Kat2b-ps	A	G	5: 93,539,299 (GRCm39)		noncoding transcript	Het
Kdm2b	A	T	5: 123,072,849 (GRCm39)	V343E	probably damaging	Het
Lipi	A	G	16: 75,362,417 (GRCm39)		probably null	Het
Ltb4r1	T	C	14: 56,004,925 (GRCm39)	F76S	probably damaging	Het
Msantd2	A	G	9: 37,434,387 (GRCm39)	Y209C	probably damaging	Het
Nid1	G	A	13: 13,647,437 (GRCm39)	C401Y	probably damaging	Het
Obox1	A	T	7: 15,290,089 (GRCm39)	N144I	probably damaging	Het
Or14j7	T	C	17: 38,234,813 (GRCm39)	S119P	probably damaging	Het
Or8h9	T	C	2: 86,789,665 (GRCm39)	I46V	possibly damaging	Het
Or8k20	T	A	2: 86,106,517 (GRCm39)	I105F	possibly damaging	Het
Plec	T	C	15: 76,064,775 (GRCm39)	E1630G	unknown	Het
Ppp2r5e	C	T	12: 75,516,533 (GRCm39)	R218Q	probably damaging	Het
Prkdc	A	G	16: 15,589,894 (GRCm39)	T2586A	probably benign	Het
Ptprj	T	C	2: 90,290,840 (GRCm39)	N633S	probably benign	Het
Rab11fip2	T	C	19: 59,924,452 (GRCm39)	N284S	probably benign	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Ropn1	A	G	16: 34,497,675 (GRCm39)	Q189R	possibly damaging	Het
Rwdd2b	A	G	16: 87,233,950 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,610,119 (GRCm39)	S4236T	probably benign	Het
Sigmar1	A	G	4: 41,741,251 (GRCm39)	M1T	probably null	Het
Sncg	T	A	14: 34,095,268 (GRCm39)	N79I	probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Ttn	C	T	2: 76,763,021 (GRCm39)	G3213S	probably damaging	Het
Uqcrc1	G	A	9: 108,776,929 (GRCm39)	R77H	probably damaging	Het
Vps13d	A	C	4: 144,835,080 (GRCm39)	L2756R	possibly damaging	Het

Other mutations in Eprs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGACATAATTCCATATCTTGCCCAG -3'
(R):5'- GAAACAAGCTGCCTGTGCAC -3'

Sequencing Primer
(F):5'- GAACTAGAGATATGCCTGCCTCTG -3'
(R):5'- TGCACGGCACAGAGTTAC -3'

Posted On

2015-10-08