Incidental Mutation 'R5972:Erap1'
ID 471485
Institutional Source Beutler Lab
Gene Symbol Erap1
Ensembl Gene ENSMUSG00000021583
Gene Name endoplasmic reticulum aminopeptidase 1
Synonyms Arts1, PILSAP, ERAAP
MMRRC Submission 044155-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R5972 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 74787692-74841324 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 74810423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169114] [ENSMUST00000221822] [ENSMUST00000222127]
AlphaFold Q9EQH2
Predicted Effect probably null
Transcript: ENSMUST00000169114
SMART Domains Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583

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 noncoding transcript
Transcript: ENSMUST00000221606
Predicted Effect probably null
Transcript: ENSMUST00000221822
Predicted Effect probably benign
Transcript: ENSMUST00000222127
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (51/51)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T A 6: 58,649,070 (GRCm39) M305K probably benign Het
Accs G T 2: 93,669,572 (GRCm39) H283N probably damaging Het
Actl6b A T 5: 137,564,818 (GRCm39) H283L possibly damaging Het
Adgra1 T C 7: 139,425,583 (GRCm39) L32P probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgef2 T C 2: 166,733,756 (GRCm39) I1672T probably damaging Het
Bambi T A 18: 3,512,354 (GRCm39) V246E probably damaging Het
BC048679 A G 7: 81,145,479 (GRCm39) L29P probably damaging Het
Bmal2 A G 6: 146,711,187 (GRCm39) M64V probably damaging Het
Camk4 T C 18: 33,240,979 (GRCm39) L92P probably damaging Het
Ddx11 C A 17: 66,455,085 (GRCm39) Q655K probably benign Het
Ddx52 A G 11: 83,844,051 (GRCm39) probably null Het
Entrep3 T A 3: 89,093,115 (GRCm39) V213D probably damaging Het
Eps8l3 T C 3: 107,791,763 (GRCm39) probably null Het
Flg T A 3: 93,186,849 (GRCm39) N100K probably benign Het
Grip2 A T 6: 91,784,262 (GRCm39) V13E probably benign Het
Iars1 T C 13: 49,863,108 (GRCm39) V520A possibly damaging Het
Impa1 A G 3: 10,394,064 (GRCm39) M1T probably null Het
Ip6k3 T C 17: 27,368,934 (GRCm39) T179A possibly damaging Het
Krt87 T A 15: 101,385,467 (GRCm39) M302L probably benign Het
Lrp8 T C 4: 107,726,267 (GRCm39) Y899H probably damaging Het
Lrpprc A T 17: 85,020,250 (GRCm39) I1145N possibly damaging Het
Mapk11 A T 15: 89,028,387 (GRCm39) D324E probably benign Het
Melk C T 4: 44,351,007 (GRCm39) T516I probably benign Het
Mia2 C T 12: 59,193,723 (GRCm39) H130Y probably damaging Het
Mroh5 C T 15: 73,662,568 (GRCm39) probably null Het
Ncam1 T C 9: 49,418,829 (GRCm39) T824A possibly damaging Het
Neurog1 T C 13: 56,399,211 (GRCm39) S179G probably damaging Het
Ntrk2 T A 13: 58,985,633 (GRCm39) L79Q probably damaging Het
Patj T A 4: 98,457,290 (GRCm39) M46K probably damaging Het
Pdcd6ip T C 9: 113,491,366 (GRCm39) K626E probably benign Het
Pdss2 T A 10: 43,174,922 (GRCm39) Y143N probably damaging Het
Pkhd1l1 G A 15: 44,408,812 (GRCm39) S2433N probably damaging Het
Plekha5 A G 6: 140,518,639 (GRCm39) T309A possibly damaging Het
Prdm4 C T 10: 85,743,365 (GRCm39) V297M probably damaging Het
Rab15 T C 12: 76,847,377 (GRCm39) Y148C probably damaging Het
Ryr3 A T 2: 112,664,409 (GRCm39) N1627K probably damaging Het
Scn1a G T 2: 66,181,454 (GRCm39) A23E possibly damaging Het
Smtn A T 11: 3,483,486 (GRCm39) I30N probably damaging Het
Sympk A G 7: 18,780,749 (GRCm39) K751E probably benign Het
Usp24 C T 4: 106,225,264 (GRCm39) P632L probably damaging Het
Vmn2r106 A G 17: 20,498,738 (GRCm39) I391T probably benign Het
Vmn2r54 G A 7: 12,349,279 (GRCm39) P768S probably damaging Het
Vmn2r54 C T 7: 12,369,874 (GRCm39) C63Y probably damaging Het
Zfhx3 T G 8: 109,677,483 (GRCm39) C2844W possibly damaging 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
R2198:Erap1 UTSW 13 74,794,806 (GRCm39) missense probably damaging 0.97
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
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'- ACTGACTTCCTAGCATCTAATTGAC -3'
(R):5'- AGGGGTCATCAAATGTCACC -3'

Sequencing Primer
(F):5'- CCTAGCATCTAATTGACATTGTGC -3'
(R):5'- TGTCACCTAGAAATGCCAGTAG -3'
Posted On 2017-03-31