Incidental Mutation 'R6989:Enpep'
ID 543126
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 045095-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6989 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 129062824-129126369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 129074599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 717 (P717H)
Ref Sequence ENSEMBL: ENSMUSP00000029658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029658]
AlphaFold P16406
Predicted Effect probably damaging
Transcript: ENSMUST00000029658
AA Change: P717H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: P717H

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: ENSMUST00000169240
SMART Domains Protein: ENSMUSP00000129759
Gene: ENSMUSG00000028024

DomainStartEndE-ValueType
Pfam:Peptidase_M1 1 51 1.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170918
SMART Domains Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024

DomainStartEndE-ValueType
Pfam:Peptidase_M1 12 402 9.6e-148 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,076 (GRCm39) R107H probably damaging Het
4930438A08Rik T C 11: 58,178,228 (GRCm39) V96A possibly damaging Het
Abcc2 A G 19: 43,820,611 (GRCm39) D1370G probably damaging Het
Abcc9 T A 6: 142,634,707 (GRCm39) N186Y probably damaging Het
Adcy7 T C 8: 89,035,414 (GRCm39) V106A probably benign Het
Adgra3 A G 5: 50,164,226 (GRCm39) F251S probably damaging Het
Akr1c6 T A 13: 4,499,045 (GRCm39) I33N probably damaging Het
Alk A C 17: 72,204,947 (GRCm39) M1075R probably benign Het
Amh A G 10: 80,641,338 (GRCm39) Q86R probably benign Het
Aox1 T C 1: 58,124,611 (GRCm39) Y951H probably damaging Het
Arhgap26 G T 18: 39,232,682 (GRCm39) R119L probably damaging Het
Arl8a A G 1: 135,074,735 (GRCm39) K7R probably benign Het
Birc6 T G 17: 74,937,984 (GRCm39) S2638A probably benign Het
Ccdc162 T G 10: 41,457,349 (GRCm39) Q256H probably damaging Het
Cenpe T A 3: 134,940,888 (GRCm39) L679Q probably damaging Het
Cpa5 T A 6: 30,625,891 (GRCm39) H203Q probably benign Het
Cpne9 A T 6: 113,277,544 (GRCm39) D421V possibly damaging Het
Cux1 A T 5: 136,308,502 (GRCm39) C1212* probably null Het
Dock9 G A 14: 121,864,791 (GRCm39) H736Y probably damaging Het
Dpp3 A T 19: 4,971,195 (GRCm39) V214E probably damaging Het
Dtx3 T C 10: 127,028,746 (GRCm39) E161G probably benign Het
Ect2 A T 3: 27,156,637 (GRCm39) Y774* probably null Het
Erich3 A T 3: 154,469,314 (GRCm39) probably benign Het
Fbp2 C T 13: 63,005,991 (GRCm39) A41T probably damaging Het
Fbxl21 T C 13: 56,674,874 (GRCm39) V75A probably damaging Het
Fkbp5 C T 17: 28,634,919 (GRCm39) D197N probably benign Het
Fsip2 A G 2: 82,807,298 (GRCm39) T1206A probably benign Het
Ggt7 A G 2: 155,345,380 (GRCm39) V156A probably benign Het
Gpi1 T C 7: 33,901,945 (GRCm39) K156R probably damaging Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Grm7 G A 6: 111,184,766 (GRCm39) E366K probably damaging Het
Haao T C 17: 84,139,103 (GRCm39) Q277R probably damaging Het
Lama1 T C 17: 68,060,753 (GRCm39) S694P Het
Lrp10 A G 14: 54,705,950 (GRCm39) D380G probably benign Het
Lrp2 C A 2: 69,302,799 (GRCm39) D2977Y probably damaging Het
Map2 T A 1: 66,454,065 (GRCm39) M985K probably benign Het
Met C A 6: 17,535,927 (GRCm39) N784K possibly damaging Het
Met T A 6: 17,535,928 (GRCm39) Y65N probably damaging Het
Muc6 T G 7: 141,226,246 (GRCm39) probably benign Het
Numbl T A 7: 26,980,265 (GRCm39) W416R probably damaging Het
Nup160 G A 2: 90,537,364 (GRCm39) S746N probably benign Het
Pcca G A 14: 122,887,700 (GRCm39) G102D probably damaging Het
Pira13 T A 7: 3,825,163 (GRCm39) Y493F possibly damaging Het
Psmc2 T A 5: 22,006,217 (GRCm39) F243L possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rpn1 G T 6: 88,076,285 (GRCm39) V357L probably benign Het
Rtn3 A G 19: 7,433,856 (GRCm39) F712S possibly damaging Het
Scgb1b10 T A 7: 31,800,574 (GRCm39) D54E probably benign Het
Scn5a A G 9: 119,315,395 (GRCm39) I1771T probably damaging Het
Sec14l1 A G 11: 117,047,220 (GRCm39) I633V probably damaging Het
Slc17a6 T C 7: 51,311,224 (GRCm39) Y313H possibly damaging Het
Slc18a1 G A 8: 69,491,514 (GRCm39) T500I probably benign Het
Slx4 G A 16: 3,813,702 (GRCm39) A93V probably damaging Het
Stat4 T C 1: 52,107,974 (GRCm39) S148P probably benign Het
Tbc1d15 A T 10: 115,045,474 (GRCm39) C497S probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trav3-3 C A 14: 53,903,802 (GRCm39) P40Q possibly damaging Het
Trpv6 A T 6: 41,602,390 (GRCm39) L332Q probably damaging Het
Ube2t T G 1: 134,897,033 (GRCm39) V55G probably damaging Het
Ufm1 T C 3: 53,765,402 (GRCm39) K69E probably damaging Het
Utp20 T C 10: 88,614,102 (GRCm39) D1284G probably benign Het
Vil1 C T 1: 74,463,113 (GRCm39) T432I probably damaging Het
Vps13b T A 15: 35,448,727 (GRCm39) I567K probably benign Het
Zfp236 A T 18: 82,646,488 (GRCm39) V1023D probably damaging Het
Zfp429 A G 13: 67,538,080 (GRCm39) Y455H probably benign 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
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'- CCATCTTGCATGCGAATCC -3'
(R):5'- TTTCCATAGCACTTTGGCAAGC -3'

Sequencing Primer
(F):5'- CTTGCATGCGAATCCTAAGATAGAG -3'
(R):5'- ATAGCACTTTGGCAAGCTGCTTG -3'
Posted On 2018-11-28