Incidental Mutation 'R9041:Erap1'
ID 687742
Institutional Source Beutler Lab
Gene Symbol Erap1
Ensembl Gene ENSMUSG00000021583
Gene Name endoplasmic reticulum aminopeptidase 1
Synonyms Arts1, PILSAP, ERAAP
MMRRC Submission 068868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R9041 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 74787692-74841324 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74822818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 777 (K777R)
Ref Sequence ENSEMBL: ENSMUSP00000133166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169114] [ENSMUST00000222127]
AlphaFold Q9EQH2
Predicted Effect probably benign
Transcript: ENSMUST00000169114
AA Change: K777R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: K777R

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 probably benign
Transcript: ENSMUST00000222127
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (60/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,062,054 (GRCm39) I168T probably benign Het
Acvr2b G T 9: 119,257,052 (GRCm39) E94* probably null Het
Adcy8 A T 15: 64,609,287 (GRCm39) I874N probably benign Het
Ahcyl T G 16: 45,974,468 (GRCm39) D303A possibly damaging Het
Angptl1 G T 1: 156,685,999 (GRCm39) D362Y probably damaging Het
Arc A G 15: 74,543,896 (GRCm39) V109A probably damaging Het
Asphd2 T A 5: 112,539,768 (GRCm39) T22S probably benign Het
Caprin2 A T 6: 148,771,030 (GRCm39) N321K probably benign Het
Carmil1 T C 13: 24,282,793 (GRCm39) D547G possibly damaging Het
Cd38 G A 5: 44,058,899 (GRCm39) probably null Het
Cd3g A G 9: 44,884,818 (GRCm39) V142A possibly damaging Het
Chrna6 A T 8: 27,896,923 (GRCm39) I318N probably damaging Het
Cmah T C 13: 24,641,004 (GRCm39) probably null Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cplx4 T C 18: 66,103,097 (GRCm39) M8V probably damaging Het
Dnajc19 T C 3: 34,134,282 (GRCm39) K27R probably damaging Het
E2f3 C A 13: 30,093,939 (GRCm39) D441Y probably damaging Het
Fastkd1 C T 2: 69,532,715 (GRCm39) V551I probably benign Het
Fgd5 A G 6: 91,964,427 (GRCm39) E220G probably benign Het
Gal3st2 T C 1: 93,800,206 (GRCm39) V19A possibly damaging Het
Ghr T C 15: 3,357,530 (GRCm39) E246G probably benign Het
Gm10228 A T 16: 88,838,113 (GRCm39) Y64N unknown Het
Gsdmc4 T C 15: 63,774,586 (GRCm39) N65S probably benign Het
Heatr5b C A 17: 79,103,861 (GRCm39) A1105S probably benign Het
Hipk2 A T 6: 38,724,909 (GRCm39) L376* probably null Het
Il6st A G 13: 112,611,631 (GRCm39) T18A probably benign Het
Kif3b T C 2: 153,159,468 (GRCm39) I423T probably benign Het
Klf17 T C 4: 117,617,556 (GRCm39) Y267C probably damaging Het
Kntc1 A G 5: 123,927,093 (GRCm39) T1183A probably benign Het
Lrrc71 A G 3: 87,650,660 (GRCm39) S201P probably damaging Het
Mrgprb5 A T 7: 47,818,509 (GRCm39) D75E probably damaging Het
Myef2l T C 3: 10,157,353 (GRCm39) *499Q probably null Het
Myf6 A G 10: 107,329,225 (GRCm39) V240A probably benign Het
Ncoa6 T C 2: 155,257,450 (GRCm39) M698V possibly damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nynrin T C 14: 56,108,753 (GRCm39) S1287P possibly damaging Het
Or10ab5 A G 7: 108,245,589 (GRCm39) S65P probably damaging Het
Otud4 T A 8: 80,400,441 (GRCm39) S1052T probably damaging Het
Pcsk5 A T 19: 17,538,132 (GRCm39) C898* probably null Het
Pdcd1 T C 1: 93,969,091 (GRCm39) T76A probably benign Het
Plin2 T A 4: 86,578,504 (GRCm39) M198L probably benign Het
Prmt7 T A 8: 106,963,460 (GRCm39) V180D possibly damaging Het
R3hdm2 T C 10: 127,320,405 (GRCm39) Y549H probably damaging Het
Rad54l2 A G 9: 106,600,018 (GRCm39) S80P possibly damaging Het
Ryr3 T A 2: 112,787,546 (GRCm39) E235D probably damaging Het
Scart1 T C 7: 139,808,503 (GRCm39) C805R probably damaging Het
Serpina9 A T 12: 103,967,737 (GRCm39) S219R Het
Sesn2 G A 4: 132,225,272 (GRCm39) T298I probably benign Het
Sf3b2 A T 19: 5,324,872 (GRCm39) V838E possibly damaging Het
Sfpq C A 4: 126,915,296 (GRCm39) H29Q unknown Het
Smchd1 A G 17: 71,701,710 (GRCm39) probably null Het
Sprr1b A G 3: 92,344,477 (GRCm39) V133A probably benign Het
Srgap3 T C 6: 112,754,054 (GRCm39) Y243C probably damaging Het
Thop1 C T 10: 80,917,228 (GRCm39) A577V possibly damaging Het
Tmprss3 T A 17: 31,410,014 (GRCm39) D200V probably benign Het
Treh A T 9: 44,596,677 (GRCm39) K512M probably damaging Het
Trip11 A G 12: 101,845,127 (GRCm39) V1537A probably benign Het
Trp63 A G 16: 25,582,083 (GRCm39) T44A probably benign Het
Vmn1r225 T A 17: 20,722,577 (GRCm39) M6K possibly damaging Het
Vmn2r90 A C 17: 17,954,286 (GRCm39) M817L probably benign Het
Zfp68 A T 5: 138,604,699 (GRCm39) Y541* probably null 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
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
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'- AAAAGTGTTCCTGTGAGTATGGAAC -3'
(R):5'- TAGGTATGTGCCCACTTGC -3'

Sequencing Primer
(F):5'- GGAACTAGTTTACAATTGGTCCCC -3'
(R):5'- ACTTGCATAGTGTTTCCAGCAG -3'
Posted On 2021-11-19