Incidental Mutation 'R4291:Enpep'
ID 323051
Institutional Source Beutler Lab
Gene Symbol Enpep
Ensembl Gene ENSMUSG00000028024
Gene Name glutamyl aminopeptidase
Synonyms Bp-1/6C3, 6030431M22Rik, Ly51, Ly-51, aminopeptidase-A, APA
MMRRC Submission 041081-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4291 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 129062824-129126369 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 129063966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 934 (R934*)
Ref Sequence ENSEMBL: ENSMUSP00000029658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029658]
AlphaFold P16406
Predicted Effect probably null
Transcript: ENSMUST00000029658
AA Change: R934*
SMART Domains Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: R934*

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Pfam:Peptidase_M1 84 474 6e-147 PFAM
Pfam:ERAP1_C 607 925 1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170918
SMART Domains Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024

DomainStartEndE-ValueType
Pfam:Peptidase_M1 12 402 9.6e-148 PFAM
Meta Mutation Damage Score 0.9648 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and morphologically unaffected with normal B and T cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,120,337 (GRCm39) F27S probably benign Het
AK157302 T A 13: 21,679,715 (GRCm39) D80E probably damaging Het
Amz2 T C 11: 109,324,881 (GRCm39) probably null Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Ankrd34c T A 9: 89,611,817 (GRCm39) K175* probably null Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Brpf3 G A 17: 29,042,949 (GRCm39) V997M probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cd96 T A 16: 45,892,112 (GRCm39) Q292L probably damaging Het
Cdh18 C A 15: 22,714,637 (GRCm39) probably benign Het
Cfb T G 17: 35,080,114 (GRCm39) D122A possibly damaging Het
Copa G T 1: 171,919,964 (GRCm39) probably benign Het
Ctnna2 T A 6: 76,859,728 (GRCm39) K854N probably damaging Het
Cwh43 G A 5: 73,569,275 (GRCm39) V106M probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Dnah8 T C 17: 30,967,533 (GRCm39) S2582P probably benign Het
Eef2 A G 10: 81,015,414 (GRCm39) T312A probably benign Het
Fam240b A T 13: 64,629,627 (GRCm39) M63K possibly damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gsn G A 2: 35,180,432 (GRCm39) V147I probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hectd3 A G 4: 116,852,889 (GRCm39) E97G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Krba1 C T 6: 48,392,599 (GRCm39) P802S possibly damaging Het
Lca5l C T 16: 95,979,974 (GRCm39) S52N probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Map3k4 G T 17: 12,474,147 (GRCm39) Q845K probably benign Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mcm9 C A 10: 53,423,668 (GRCm39) M677I probably benign Het
Mkrn2 A G 6: 115,594,395 (GRCm39) T369A possibly damaging Het
Mthfr C A 4: 148,139,949 (GRCm39) N623K probably damaging Het
Myh2 T C 11: 67,071,985 (GRCm39) V571A probably benign Het
Nom1 G A 5: 29,651,370 (GRCm39) probably null Het
Nucb1 T A 7: 45,144,704 (GRCm39) D283V probably damaging Het
Or12e8 G A 2: 87,188,419 (GRCm39) M210I probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Pcdhb1 A C 18: 37,398,470 (GRCm39) L140F probably damaging Het
Ptgs2 G A 1: 149,976,002 (GRCm39) A10T probably benign Het
Rfx3 C T 19: 27,777,632 (GRCm39) R497Q probably damaging Het
Rps6kb1 A T 11: 86,410,702 (GRCm39) probably benign Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Tet3 T C 6: 83,350,181 (GRCm39) T961A probably damaging Het
Ttc27 T C 17: 75,163,474 (GRCm39) L694P probably damaging Het
Vmn1r238 G A 18: 3,123,214 (GRCm39) Q67* probably null Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwf A T 6: 125,619,285 (GRCm39) Y1321F probably damaging Het
Wfdc1 C A 8: 120,406,194 (GRCm39) P103Q probably damaging Het
Zfp488 C A 14: 33,692,851 (GRCm39) C104F possibly damaging Het
Other mutations in Enpep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Enpep APN 3 129,125,731 (GRCm39) missense possibly damaging 0.69
IGL01895:Enpep APN 3 129,063,983 (GRCm39) missense possibly damaging 0.89
IGL02193:Enpep APN 3 129,075,336 (GRCm39) missense possibly damaging 0.46
IGL02215:Enpep APN 3 129,063,926 (GRCm39) splice site probably benign
IGL02511:Enpep APN 3 129,115,059 (GRCm39) missense probably damaging 1.00
IGL02579:Enpep APN 3 129,077,739 (GRCm39) missense probably benign 0.07
IGL02634:Enpep APN 3 129,103,506 (GRCm39) missense probably damaging 1.00
IGL03034:Enpep APN 3 129,092,599 (GRCm39) missense probably damaging 0.99
IGL03214:Enpep APN 3 129,086,896 (GRCm39) missense probably benign
IGL03401:Enpep APN 3 129,106,269 (GRCm39) missense probably benign 0.01
P0041:Enpep UTSW 3 129,125,847 (GRCm39) missense possibly damaging 0.80
R0371:Enpep UTSW 3 129,077,516 (GRCm39) critical splice donor site probably null
R0479:Enpep UTSW 3 129,106,323 (GRCm39) missense possibly damaging 0.65
R1036:Enpep UTSW 3 129,077,758 (GRCm39) missense probably damaging 0.99
R1466:Enpep UTSW 3 129,113,097 (GRCm39) missense probably damaging 1.00
R1466:Enpep UTSW 3 129,113,097 (GRCm39) missense probably damaging 1.00
R1584:Enpep UTSW 3 129,113,097 (GRCm39) missense probably damaging 1.00
R2060:Enpep UTSW 3 129,074,172 (GRCm39) missense probably benign 0.14
R2101:Enpep UTSW 3 129,092,587 (GRCm39) missense probably benign 0.00
R2153:Enpep UTSW 3 129,074,231 (GRCm39) missense probably damaging 0.99
R2474:Enpep UTSW 3 129,077,807 (GRCm39) missense possibly damaging 0.77
R3618:Enpep UTSW 3 129,077,807 (GRCm39) missense possibly damaging 0.77
R3619:Enpep UTSW 3 129,077,807 (GRCm39) missense possibly damaging 0.77
R4275:Enpep UTSW 3 129,125,927 (GRCm39) missense probably benign 0.02
R4438:Enpep UTSW 3 129,077,740 (GRCm39) missense possibly damaging 0.94
R4570:Enpep UTSW 3 129,075,197 (GRCm39) missense possibly damaging 0.67
R4678:Enpep UTSW 3 129,097,362 (GRCm39) critical splice donor site probably null
R4679:Enpep UTSW 3 129,097,362 (GRCm39) critical splice donor site probably null
R4748:Enpep UTSW 3 129,125,812 (GRCm39) missense probably damaging 1.00
R4878:Enpep UTSW 3 129,070,420 (GRCm39) missense probably benign 0.17
R4954:Enpep UTSW 3 129,077,829 (GRCm39) missense probably damaging 0.98
R5074:Enpep UTSW 3 129,097,404 (GRCm39) missense probably damaging 1.00
R5261:Enpep UTSW 3 129,099,075 (GRCm39) missense probably damaging 1.00
R5328:Enpep UTSW 3 129,074,159 (GRCm39) missense probably benign 0.30
R5661:Enpep UTSW 3 129,070,406 (GRCm39) missense probably damaging 0.98
R5687:Enpep UTSW 3 129,092,743 (GRCm39) splice site probably null
R5695:Enpep UTSW 3 129,102,748 (GRCm39) missense probably damaging 1.00
R5697:Enpep UTSW 3 129,102,772 (GRCm39) missense probably benign
R5889:Enpep UTSW 3 129,106,227 (GRCm39) missense probably damaging 1.00
R5940:Enpep UTSW 3 129,106,227 (GRCm39) missense probably damaging 1.00
R5968:Enpep UTSW 3 129,074,587 (GRCm39) missense probably benign
R5976:Enpep UTSW 3 129,092,773 (GRCm39) missense probably damaging 0.97
R6151:Enpep UTSW 3 129,126,067 (GRCm39) missense possibly damaging 0.82
R6367:Enpep UTSW 3 129,125,730 (GRCm39) missense possibly damaging 0.94
R6468:Enpep UTSW 3 129,125,509 (GRCm39) critical splice donor site probably null
R6484:Enpep UTSW 3 129,115,130 (GRCm39) missense probably damaging 0.96
R6938:Enpep UTSW 3 129,092,599 (GRCm39) missense probably damaging 0.99
R6989:Enpep UTSW 3 129,074,599 (GRCm39) missense probably damaging 1.00
R7073:Enpep UTSW 3 129,106,319 (GRCm39) nonsense probably null
R7258:Enpep UTSW 3 129,125,724 (GRCm39) missense probably benign 0.01
R7452:Enpep UTSW 3 129,065,052 (GRCm39) missense possibly damaging 0.81
R7576:Enpep UTSW 3 129,077,740 (GRCm39) missense probably benign 0.03
R7684:Enpep UTSW 3 129,115,094 (GRCm39) missense probably damaging 1.00
R7697:Enpep UTSW 3 129,102,750 (GRCm39) missense probably damaging 1.00
R8050:Enpep UTSW 3 129,099,165 (GRCm39) missense probably damaging 1.00
R8080:Enpep UTSW 3 129,092,783 (GRCm39) missense probably damaging 1.00
R8318:Enpep UTSW 3 129,063,986 (GRCm39) missense probably damaging 1.00
R8423:Enpep UTSW 3 129,102,774 (GRCm39) missense probably damaging 1.00
R8474:Enpep UTSW 3 129,113,076 (GRCm39) missense probably damaging 1.00
R8532:Enpep UTSW 3 129,070,302 (GRCm39) nonsense probably null
R8826:Enpep UTSW 3 129,065,067 (GRCm39) missense probably damaging 0.97
R8884:Enpep UTSW 3 129,115,052 (GRCm39) missense possibly damaging 0.88
R8936:Enpep UTSW 3 129,125,884 (GRCm39) missense possibly damaging 0.63
R8937:Enpep UTSW 3 129,115,007 (GRCm39) critical splice donor site probably null
R8959:Enpep UTSW 3 129,113,090 (GRCm39) missense probably damaging 1.00
R9348:Enpep UTSW 3 129,102,772 (GRCm39) missense probably benign 0.03
R9375:Enpep UTSW 3 129,125,529 (GRCm39) missense probably benign 0.00
Z1177:Enpep UTSW 3 129,070,329 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTACTTAGCAAAAGCAGAACTGG -3'
(R):5'- TTGTTCTGAGTGCTGCACCAG -3'

Sequencing Primer
(F):5'- GCAGAACTGGTTTCAAAGGCTCC -3'
(R):5'- TGCACCAGGAGATGCCATC -3'
Posted On 2015-06-20