Incidental Mutation 'R2198:Erap1'
ID 238522
Institutional Source Beutler Lab
Gene Symbol Erap1
Ensembl Gene ENSMUSG00000021583
Gene Name endoplasmic reticulum aminopeptidase 1
Synonyms Arts1, PILSAP, ERAAP
MMRRC Submission 040200-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R2198 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 74787692-74841324 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74794806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 155 (T155I)
Ref Sequence ENSEMBL: ENSMUSP00000133166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169114] [ENSMUST00000221526] [ENSMUST00000221822]
AlphaFold Q9EQH2
Predicted Effect probably damaging
Transcript: ENSMUST00000169114
AA Change: T155I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: T155I

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000221526
Predicted Effect probably benign
Transcript: ENSMUST00000221822
Meta Mutation Damage Score 0.1837 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (60/61)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a T C 14: 66,875,385 (GRCm39) I120T probably damaging Het
Akr1c21 C T 13: 4,627,464 (GRCm39) P186L probably damaging Het
Alpk2 T C 18: 65,483,255 (GRCm39) K251R probably benign Het
Ank2 T C 3: 126,728,226 (GRCm39) E789G possibly damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cacna2d4 T C 6: 119,324,220 (GRCm39) probably benign Het
Carf G A 1: 60,180,643 (GRCm39) R355H probably damaging Het
Cdh20 A T 1: 104,875,047 (GRCm39) probably null Het
Celf6 G T 9: 59,510,622 (GRCm39) L169F possibly damaging Het
Cep295nl A T 11: 118,223,419 (GRCm39) I475N probably benign Het
Chdh T A 14: 29,753,489 (GRCm39) S133T possibly damaging Het
Cnot6l C T 5: 96,227,800 (GRCm39) D478N possibly damaging Het
Ctnna3 C A 10: 64,838,524 (GRCm39) T867K probably benign Het
Ctse T G 1: 131,600,185 (GRCm39) Y311* probably null Het
Ddx60 T A 8: 62,411,097 (GRCm39) M453K possibly damaging Het
Dnah9 A G 11: 65,750,325 (GRCm39) F3927L possibly damaging Het
Dsg4 T C 18: 20,594,499 (GRCm39) S543P probably benign Het
Dspp A T 5: 104,323,567 (GRCm39) T237S probably benign Het
Eml6 T G 11: 29,800,935 (GRCm39) H357P probably benign Het
Epha3 T C 16: 63,664,507 (GRCm39) I38V possibly damaging Het
Erh T C 12: 80,689,559 (GRCm39) probably benign Het
F5 A T 1: 164,034,603 (GRCm39) K1834M probably damaging Het
Fyn A G 10: 39,405,541 (GRCm39) E269G probably benign Het
Gm4884 A G 7: 40,690,229 (GRCm39) T42A probably benign Het
Grm1 T G 10: 10,658,520 (GRCm39) R323S probably damaging Het
Gstt4 T C 10: 75,658,235 (GRCm39) D8G probably damaging Het
Gvin-ps3 T A 7: 105,682,758 (GRCm39) M166L probably benign Het
Ldlr A G 9: 21,643,698 (GRCm39) D94G probably damaging Het
Mrpl54 G A 10: 81,101,575 (GRCm39) probably null Het
Naip2 A T 13: 100,289,100 (GRCm39) F1210Y probably damaging Het
Nifk A G 1: 118,257,130 (GRCm39) R88G probably benign Het
Nlgn1 C T 3: 25,487,925 (GRCm39) M803I probably damaging Het
Or2r11 A G 6: 42,437,950 (GRCm39) M1T probably null Het
Or2y16 C T 11: 49,334,786 (GRCm39) S36F probably benign Het
Or6c88 T A 10: 129,406,915 (GRCm39) Y130* probably null Het
Or8g18 G A 9: 39,149,048 (GRCm39) T224I possibly damaging Het
Pip4k2a A T 2: 18,852,466 (GRCm39) M272K probably damaging Het
Ppp1cb G T 5: 32,640,704 (GRCm39) C139F probably damaging Het
Rad23b G A 4: 55,385,497 (GRCm39) G345R possibly damaging Het
Shc4 A T 2: 125,481,266 (GRCm39) V548E possibly damaging Het
Slc26a9 A G 1: 131,691,001 (GRCm39) probably benign Het
Slc8a1 T A 17: 81,715,685 (GRCm39) K783* probably null Het
Sobp A C 10: 42,898,520 (GRCm39) I355S possibly damaging Het
Thbs4 A G 13: 92,899,779 (GRCm39) Y491H possibly damaging Het
Tle2 T C 10: 81,426,147 (GRCm39) V727A probably damaging Het
Tmprss9 C T 10: 80,723,293 (GRCm39) P251L probably damaging Het
Tnks A T 8: 35,315,803 (GRCm39) D994E probably benign Het
Tnks C T 8: 35,340,221 (GRCm39) D466N probably benign Het
Tonsl A G 15: 76,520,872 (GRCm39) F394L probably benign Het
Trpa1 T A 1: 14,980,970 (GRCm39) Y144F probably benign Het
Usp22 A G 11: 61,050,163 (GRCm39) F324S probably damaging Het
Vmn1r78 G T 7: 11,886,487 (GRCm39) V33F probably benign Het
Wdr81 C T 11: 75,336,907 (GRCm39) R1494Q probably benign Het
Wdr87-ps G T 7: 29,226,697 (GRCm39) noncoding transcript Het
Zc3h14 G A 12: 98,719,068 (GRCm39) M144I probably damaging Het
Zc3h14 G A 12: 98,719,069 (GRCm39) V145M possibly damaging Het
Zfp82 T C 7: 29,756,936 (GRCm39) T49A probably benign Het
Other mutations in Erap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Erap1 APN 13 74,821,778 (GRCm39) missense probably benign 0.17
IGL00661:Erap1 APN 13 74,822,908 (GRCm39) unclassified probably benign
IGL00903:Erap1 APN 13 74,821,826 (GRCm39) missense probably benign
IGL01095:Erap1 APN 13 74,816,213 (GRCm39) missense probably benign 0.04
IGL01536:Erap1 APN 13 74,810,542 (GRCm39) nonsense probably null
IGL01646:Erap1 APN 13 74,814,291 (GRCm39) missense probably damaging 1.00
IGL01674:Erap1 APN 13 74,812,350 (GRCm39) unclassified probably benign
IGL01795:Erap1 APN 13 74,814,209 (GRCm39) splice site probably null
IGL01922:Erap1 APN 13 74,810,506 (GRCm39) missense probably damaging 1.00
IGL01951:Erap1 APN 13 74,823,414 (GRCm39) missense probably damaging 0.99
IGL02106:Erap1 APN 13 74,794,758 (GRCm39) missense probably benign
IGL02369:Erap1 APN 13 74,814,645 (GRCm39) missense probably benign 0.05
IGL02669:Erap1 APN 13 74,823,987 (GRCm39) missense probably benign 0.13
IGL02866:Erap1 APN 13 74,816,118 (GRCm39) missense probably damaging 0.96
IGL03093:Erap1 APN 13 74,823,399 (GRCm39) missense probably benign 0.10
IGL03265:Erap1 APN 13 74,812,246 (GRCm39) missense probably damaging 1.00
R0091:Erap1 UTSW 13 74,816,171 (GRCm39) missense possibly damaging 0.88
R0456:Erap1 UTSW 13 74,812,339 (GRCm39) missense probably benign 0.24
R0556:Erap1 UTSW 13 74,808,444 (GRCm39) missense probably damaging 1.00
R0627:Erap1 UTSW 13 74,823,933 (GRCm39) unclassified probably benign
R0825:Erap1 UTSW 13 74,822,733 (GRCm39) unclassified probably benign
R1123:Erap1 UTSW 13 74,821,762 (GRCm39) missense probably benign
R1530:Erap1 UTSW 13 74,794,662 (GRCm39) missense probably benign 0.06
R1619:Erap1 UTSW 13 74,819,500 (GRCm39) missense probably damaging 1.00
R1731:Erap1 UTSW 13 74,814,241 (GRCm39) nonsense probably null
R1944:Erap1 UTSW 13 74,794,758 (GRCm39) missense probably benign
R2016:Erap1 UTSW 13 74,812,270 (GRCm39) missense probably damaging 1.00
R2022:Erap1 UTSW 13 74,814,627 (GRCm39) missense probably benign 0.08
R2023:Erap1 UTSW 13 74,814,627 (GRCm39) missense probably benign 0.08
R2045:Erap1 UTSW 13 74,817,569 (GRCm39) missense probably benign 0.01
R2081:Erap1 UTSW 13 74,823,426 (GRCm39) missense possibly damaging 0.67
R2187:Erap1 UTSW 13 74,810,524 (GRCm39) missense probably damaging 0.98
R3938:Erap1 UTSW 13 74,816,147 (GRCm39) missense probably damaging 1.00
R4052:Erap1 UTSW 13 74,823,459 (GRCm39) missense probably benign 0.13
R4062:Erap1 UTSW 13 74,811,655 (GRCm39) missense probably benign 0.02
R4128:Erap1 UTSW 13 74,814,315 (GRCm39) missense probably damaging 1.00
R4247:Erap1 UTSW 13 74,823,414 (GRCm39) missense probably damaging 0.99
R4562:Erap1 UTSW 13 74,821,778 (GRCm39) missense probably benign 0.21
R4691:Erap1 UTSW 13 74,821,811 (GRCm39) missense probably damaging 0.99
R4831:Erap1 UTSW 13 74,838,766 (GRCm39) missense probably damaging 1.00
R4916:Erap1 UTSW 13 74,794,647 (GRCm39) missense probably benign
R4983:Erap1 UTSW 13 74,838,829 (GRCm39) missense probably benign 0.01
R5213:Erap1 UTSW 13 74,819,614 (GRCm39) splice site probably null
R5229:Erap1 UTSW 13 74,808,494 (GRCm39) missense possibly damaging 0.94
R5367:Erap1 UTSW 13 74,794,680 (GRCm39) missense probably damaging 0.99
R5463:Erap1 UTSW 13 74,794,533 (GRCm39) missense probably damaging 1.00
R5566:Erap1 UTSW 13 74,810,531 (GRCm39) missense probably damaging 1.00
R5972:Erap1 UTSW 13 74,810,423 (GRCm39) splice site probably null
R6112:Erap1 UTSW 13 74,794,398 (GRCm39) missense probably benign 0.44
R6132:Erap1 UTSW 13 74,808,401 (GRCm39) missense probably benign 0.00
R6180:Erap1 UTSW 13 74,814,345 (GRCm39) missense possibly damaging 0.55
R6314:Erap1 UTSW 13 74,822,894 (GRCm39) missense probably damaging 0.99
R6479:Erap1 UTSW 13 74,811,612 (GRCm39) splice site probably null
R6919:Erap1 UTSW 13 74,819,552 (GRCm39) missense probably benign 0.20
R7199:Erap1 UTSW 13 74,814,258 (GRCm39) missense probably benign 0.10
R7283:Erap1 UTSW 13 74,821,903 (GRCm39) splice site probably null
R7543:Erap1 UTSW 13 74,822,753 (GRCm39) missense probably damaging 1.00
R8174:Erap1 UTSW 13 74,794,683 (GRCm39) missense probably benign 0.09
R8217:Erap1 UTSW 13 74,820,937 (GRCm39) missense probably benign 0.33
R8320:Erap1 UTSW 13 74,814,668 (GRCm39) missense probably benign 0.02
R8799:Erap1 UTSW 13 74,805,755 (GRCm39) missense probably benign 0.02
R9041:Erap1 UTSW 13 74,822,818 (GRCm39) missense probably benign 0.02
R9232:Erap1 UTSW 13 74,811,637 (GRCm39) missense probably benign 0.36
R9244:Erap1 UTSW 13 74,821,903 (GRCm39) splice site probably null
X0067:Erap1 UTSW 13 74,808,491 (GRCm39) missense probably damaging 1.00
Z1176:Erap1 UTSW 13 74,805,757 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGGAGAGATGCTGTCTG -3'
(R):5'- TGTGAGCAAATAGATACCTACTCTC -3'

Sequencing Primer
(F):5'- TGCTGTCTGAAGAACCACTG -3'
(R):5'- TACTGTGGGCACACTTGA -3'
Posted On 2014-10-02