Mutagenetix > Incidental Mutations

Incidental Mutation 'R5229:Erap1'

403676

Institutional Source

Beutler Lab

Gene Symbol

Erap1

Ensembl Gene

ENSMUSG00000021583

Gene Name

endoplasmic reticulum aminopeptidase 1

Synonyms

ERAAP, Arts1, PILSAP

MMRRC Submission

042802-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R5229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74639568-74693201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74660375 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 69 (V69M)

Ref Sequence

ENSEMBL: ENSMUSP00000152705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169114] [ENSMUST00000221822]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169114
AA Change: V246M

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: V246M

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	42	430	2.7e-135	PFAM
low complexity region	488	501	N/A	INTRINSIC
Pfam:ERAP1_C	586	904	1.7e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221606

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221822
AA Change: V69M

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a targeted mutation may exhibit extramedullary hematopoiesis of the spleen, thymus hyperplasia, or enlarged kidneys at older ages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	C	1: 16,080,959		probably benign	Het
4930562C15Rik	A	G	16: 4,850,051	I435M	possibly damaging	Het
8430408G22Rik	T	C	6: 116,652,031	S112P	possibly damaging	Het
Adcy5	A	G	16: 35,269,070	I546V	probably damaging	Het
Apob	A	G	12: 7,977,806	T10A	probably benign	Het
Brwd1	C	A	16: 96,002,209	D2254Y	possibly damaging	Het
Bub1b	C	A	2: 118,629,989	D600E	probably damaging	Het
C87499	T	C	4: 88,630,135	D11G	possibly damaging	Het
Cnga1	A	G	5: 72,609,500	S199P	probably damaging	Het
Cyp3a11	G	T	5: 145,855,135	L483I	probably benign	Het
Dpysl3	C	A	18: 43,332,951	G457V	probably damaging	Het
Eif4g3	C	A	4: 138,096,794	P36T	possibly damaging	Het
Epb41	C	A	4: 131,978,935	G415C	probably damaging	Het
F2	A	T	2: 91,630,241	Y301*	probably null	Het
F2rl2	A	T	13: 95,700,687	N80I	possibly damaging	Het
Gm15446	T	G	5: 109,943,170	H429Q	probably damaging	Het
Gm8773	A	T	5: 5,575,565	Y87F	possibly damaging	Het
Gpat3	G	A	5: 100,883,424	G148D	probably damaging	Het
Gpr26	A	T	7: 131,984,247	R315S	probably damaging	Het
Hdac9	A	C	12: 34,437,164	H100Q	probably damaging	Het
Heatr5a	A	T	12: 51,947,978	V457D	probably benign	Het
Igkv10-96	A	G	6: 68,632,239	M24T	possibly damaging	Het
Igkv2-95-2	A	G	6: 68,648,111		noncoding transcript	Het
Kdm4a	G	A	4: 118,146,605	S758F	probably damaging	Het
Lrg1	A	G	17: 56,120,154	W273R	probably damaging	Het
Man2a1	A	T	17: 64,710,734	Q658H	probably benign	Het
Mapkapk5	T	C	5: 121,533,391		probably null	Het
Mcm6	T	C	1: 128,333,584	D761G	possibly damaging	Het
Myh8	A	T	11: 67,284,484	Y286F	probably damaging	Het
Nbn	C	T	4: 15,963,893	T98I	probably damaging	Het
Nrd1	T	C	4: 109,049,108	S685P	probably damaging	Het
Nudcd3	A	G	11: 6,193,238	V80A	probably benign	Het
Olfr121	A	G	17: 37,752,301	H149R	probably benign	Het
Olfr474	A	G	7: 107,955,169	H176R	probably damaging	Het
Pdcd6ip	A	T	9: 113,678,333	M390K	probably damaging	Het
Pon1	C	T	6: 5,177,295	V205I	possibly damaging	Het
Ppp4r2	C	A	6: 100,865,215	H212Q	probably benign	Het
Prl2c5	G	A	13: 13,185,856	C33Y	probably damaging	Het
Rbak	A	G	5: 143,174,162	F379L	probably damaging	Het
Rcc2	G	A	4: 140,717,029	D344N	probably damaging	Het
Rgs3	T	C	4: 62,702,187	L550P	probably damaging	Het
Rnasek	A	T	11: 70,239,660	M25K	probably damaging	Het
Scgb1b24	A	T	7: 33,744,095	T60S	possibly damaging	Het
Scn5a	A	G	9: 119,535,976	F392S	probably damaging	Het
Scpep1	A	T	11: 88,937,045	V209E	probably damaging	Het
Slc35g1	A	G	19: 38,402,632		probably null	Het
Sorbs1	A	G	19: 40,340,707	I554T	probably damaging	Het
Spats1	A	G	17: 45,466,133		probably benign	Het
Tdp1	A	G	12: 99,893,660	Q202R	probably damaging	Het
Trav6-5	T	G	14: 53,491,588	S102A	probably damaging	Het
Tspan2	T	C	3: 102,768,899	M208T	probably damaging	Het
Ube4b	A	G	4: 149,387,178	S84P	probably damaging	Het
Vmn1r237	C	A	17: 21,314,371	Q119K	probably benign	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Zfp65	A	T	13: 67,708,810	S117T	probably benign	Het

Other mutations in Erap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Erap1	APN	13	74673659	missense	probably benign	0.17
IGL00661:Erap1	APN	13	74674789	unclassified	probably benign
IGL00903:Erap1	APN	13	74673707	missense	probably benign
IGL01095:Erap1	APN	13	74668094	missense	probably benign	0.04
IGL01536:Erap1	APN	13	74662423	nonsense	probably null
IGL01646:Erap1	APN	13	74666172	missense	probably damaging	1.00
IGL01674:Erap1	APN	13	74664231	unclassified	probably benign
IGL01795:Erap1	APN	13	74666090	unclassified	probably null
IGL01922:Erap1	APN	13	74662387	missense	probably damaging	1.00
IGL01951:Erap1	APN	13	74675295	missense	probably damaging	0.99
IGL02106:Erap1	APN	13	74646639	missense	probably benign
IGL02369:Erap1	APN	13	74666526	missense	probably benign	0.05
IGL02669:Erap1	APN	13	74675868	missense	probably benign	0.13
IGL02866:Erap1	APN	13	74667999	missense	probably damaging	0.96
IGL03093:Erap1	APN	13	74675280	missense	probably benign	0.10
IGL03265:Erap1	APN	13	74664127	missense	probably damaging	1.00
R0091:Erap1	UTSW	13	74668052	missense	possibly damaging	0.88
R0456:Erap1	UTSW	13	74664220	missense	probably benign	0.24
R0556:Erap1	UTSW	13	74660325	missense	probably damaging	1.00
R0627:Erap1	UTSW	13	74675814	unclassified	probably benign
R0825:Erap1	UTSW	13	74674614	unclassified	probably benign
R1123:Erap1	UTSW	13	74673643	missense	probably benign
R1530:Erap1	UTSW	13	74646543	missense	probably benign	0.06
R1619:Erap1	UTSW	13	74671381	missense	probably damaging	1.00
R1731:Erap1	UTSW	13	74666122	nonsense	probably null
R1944:Erap1	UTSW	13	74646639	missense	probably benign
R2016:Erap1	UTSW	13	74664151	missense	probably damaging	1.00
R2022:Erap1	UTSW	13	74666508	missense	probably benign	0.08
R2023:Erap1	UTSW	13	74666508	missense	probably benign	0.08
R2045:Erap1	UTSW	13	74669450	missense	probably benign	0.01
R2081:Erap1	UTSW	13	74675307	missense	possibly damaging	0.67
R2187:Erap1	UTSW	13	74662405	missense	probably damaging	0.98
R2198:Erap1	UTSW	13	74646687	missense	probably damaging	0.97
R3938:Erap1	UTSW	13	74668028	missense	probably damaging	1.00
R4052:Erap1	UTSW	13	74675340	missense	probably benign	0.13
R4062:Erap1	UTSW	13	74663536	missense	probably benign	0.02
R4128:Erap1	UTSW	13	74666196	missense	probably damaging	1.00
R4247:Erap1	UTSW	13	74675295	missense	probably damaging	0.99
R4562:Erap1	UTSW	13	74673659	missense	probably benign	0.21
R4691:Erap1	UTSW	13	74673692	missense	probably damaging	0.99
R4831:Erap1	UTSW	13	74690647	missense	probably damaging	1.00
R4916:Erap1	UTSW	13	74646528	missense	probably benign
R4983:Erap1	UTSW	13	74690710	missense	probably benign	0.01
R5213:Erap1	UTSW	13	74671495	splice site	probably null
R5367:Erap1	UTSW	13	74646561	missense	probably damaging	0.99
R5463:Erap1	UTSW	13	74646414	missense	probably damaging	1.00
R5566:Erap1	UTSW	13	74662412	missense	probably damaging	1.00
R5972:Erap1	UTSW	13	74662304	splice site	probably null
R6112:Erap1	UTSW	13	74646279	missense	probably benign	0.44
R6132:Erap1	UTSW	13	74660282	missense	probably benign	0.00
R6180:Erap1	UTSW	13	74666226	missense	possibly damaging	0.55
R6314:Erap1	UTSW	13	74674775	missense	probably damaging	0.99
R6479:Erap1	UTSW	13	74663493	unclassified	probably null
R6919:Erap1	UTSW	13	74671433	missense	probably benign	0.20
R7199:Erap1	UTSW	13	74666139	missense	probably benign	0.10
R7283:Erap1	UTSW	13	74673784	splice site	probably null
R7543:Erap1	UTSW	13	74674634	missense	probably damaging	1.00
X0067:Erap1	UTSW	13	74660372	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCCCTGACCTCTAAAGTATAG -3'
(R):5'- TTGTTACTAGGGCATTGCTAGTAAG -3'

Sequencing Primer
(F):5'- CCTGACCTCTAAAGTATAGTCAAATG -3'
(R):5'- TGCAGGGCTACCTGTTTT -3'

Posted On

2016-07-22