Incidental Mutation 'R8080:Enpep'
ID 629267
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 067513-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8080 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 129062824-129126369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129092783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 505 (N505K)
Ref Sequence ENSEMBL: ENSMUSP00000029658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029658]
AlphaFold P16406
Predicted Effect probably damaging
Transcript: ENSMUST00000029658
AA Change: N505K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: N505K

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
SMART Domains Protein: ENSMUSP00000129759
Gene: ENSMUSG00000028024
AA Change: N81K

DomainStartEndE-ValueType
Pfam:Peptidase_M1 1 51 1.5e-10 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024
AA Change: N432K

DomainStartEndE-ValueType
Pfam:Peptidase_M1 12 402 9.6e-148 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 94.9%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,023,900 (GRCm39) Q277R probably damaging Het
Anapc5 T C 5: 122,945,401 (GRCm39) N226D probably damaging Het
Arb2a T A 13: 78,154,565 (GRCm39) L316Q probably damaging Het
Bcl2l11 T C 2: 127,970,586 (GRCm39) C12R probably damaging Het
Bpnt1 A G 1: 185,084,406 (GRCm39) T168A probably damaging Het
Brca2 A T 5: 150,463,357 (GRCm39) E1040D probably benign Het
Cdca2 G A 14: 67,915,004 (GRCm39) Q752* probably null Het
Cntn2 T C 1: 132,449,536 (GRCm39) D635G probably damaging Het
Cntnap5b A T 1: 99,999,928 (GRCm39) I229F probably benign Het
Ctr9 G A 7: 110,650,774 (GRCm39) E900K possibly damaging Het
Dmbt1 A G 7: 130,690,500 (GRCm39) Y911C unknown Het
Egflam T A 15: 7,427,561 (GRCm39) D2V probably benign Het
Fam13a A G 6: 58,933,790 (GRCm39) S267P probably damaging Het
Fancc G T 13: 63,550,837 (GRCm39) T12K Het
Fbxo3 A G 2: 103,864,012 (GRCm39) Y89C probably damaging Het
Garem2 A G 5: 30,313,385 (GRCm39) Y83C probably damaging Het
Gm17079 T C 14: 51,930,480 (GRCm39) T122A Het
Gm3696 A T 14: 18,435,071 (GRCm39) L71* probably null Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gmip A T 8: 70,268,736 (GRCm39) T454S possibly damaging Het
Helz2 T A 2: 180,880,055 (GRCm39) T554S probably damaging Het
Hoxc9 C T 15: 102,890,551 (GRCm39) T156M probably benign Het
Hrc A G 7: 44,986,262 (GRCm39) E471G probably damaging Het
Hydin A G 8: 111,261,863 (GRCm39) I2655V probably benign Het
Ighv1-64 T C 12: 115,471,463 (GRCm39) H18R probably benign Het
Jcad A G 18: 4,649,270 (GRCm39) Y47C probably benign Het
Jmjd4 A G 11: 59,341,179 (GRCm39) T37A probably benign Het
Kalrn C T 16: 33,796,038 (GRCm39) G2915S possibly damaging Het
Kdm5d T C Y: 910,742 (GRCm39) F285L probably benign Het
Lmna A G 3: 88,393,868 (GRCm39) F237L probably damaging Het
Med12l A G 3: 59,172,607 (GRCm39) K1788E probably damaging Het
Mrgprb1 T C 7: 48,096,658 (GRCm39) probably null Het
Myh1 T A 11: 67,102,228 (GRCm39) Y840N probably benign Het
Negr1 C A 3: 156,866,357 (GRCm39) A302E probably damaging Het
Nup188 T C 2: 30,227,045 (GRCm39) V1206A possibly damaging Het
Nup205 T C 6: 35,204,311 (GRCm39) L1399P probably damaging Het
Or13a20 T C 7: 140,232,387 (GRCm39) M165T probably benign Het
Or4a81 T A 2: 89,618,971 (GRCm39) I242F possibly damaging Het
Or5v1b G A 17: 37,841,555 (GRCm39) R229H probably benign Het
Or6c69b T C 10: 129,626,997 (GRCm39) I154V probably benign Het
Or8c14-ps1 T C 9: 38,101,885 (GRCm39) L288S unknown Het
Pcdhb4 A G 18: 37,442,349 (GRCm39) D553G probably benign Het
Phip A G 9: 82,769,662 (GRCm39) L1147P probably damaging Het
Phlpp1 A G 1: 106,320,706 (GRCm39) D1567G probably benign Het
Pigz T C 16: 31,760,858 (GRCm39) C20R probably damaging Het
Plpp1 A G 13: 113,004,002 (GRCm39) K252R probably benign Het
Polr2a A T 11: 69,625,874 (GRCm39) S1759T unknown Het
Rbm42 G T 7: 30,345,136 (GRCm39) P212T unknown Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Slc35e1 G A 8: 73,246,030 (GRCm39) P134L Het
Slc9a3 A C 13: 74,314,146 (GRCm39) Q818P probably benign Het
St3gal4 T C 9: 35,017,617 (GRCm39) probably null Het
Stard3nl G T 13: 19,554,521 (GRCm39) A151E probably damaging Het
Syt9 T A 7: 107,035,997 (GRCm39) I338N probably benign Het
Ticrr A T 7: 79,334,012 (GRCm39) probably null Het
Tlr4 T A 4: 66,757,713 (GRCm39) Y169N probably damaging Het
Tnc A C 4: 63,894,706 (GRCm39) I1560S possibly damaging Het
Usp7 C A 16: 8,515,771 (GRCm39) D644Y probably benign Het
Utp20 A G 10: 88,618,577 (GRCm39) I1141T possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r60 A G 7: 41,790,521 (GRCm39) M503V probably benign Het
Zfp384 T C 6: 125,013,521 (GRCm39) S530P unknown Het
Zfp600 T A 4: 146,133,182 (GRCm39) C617S unknown Het
Zfp819 A G 7: 43,267,148 (GRCm39) R544G probably 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
R4291:Enpep UTSW 3 129,063,966 (GRCm39) nonsense probably null
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
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'- ACAGGATAACCCATCTGGCTAG -3'
(R):5'- AAAGTCACTGCTGTTTCTTGGATG -3'

Sequencing Primer
(F):5'- GCTAGTCCAGGTGTCCATCAC -3'
(R):5'- ACTGCTGTTTCTTGGATGGTGTTTG -3'
Posted On 2020-06-30