Incidental Mutation 'R1693:Anpep'
ID 191929
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 039726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1693 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79488004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 518 (E518K)
Ref Sequence ENSEMBL: ENSMUSP00000103015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502] [ENSMUST00000206235]
AlphaFold P97449
Predicted Effect probably benign
Transcript: ENSMUST00000049004
AA Change: E518K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: E518K

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 44 64 N/A INTRINSIC
Pfam:Peptidase_M1 75 479 6.3e-142 PFAM
Pfam:Peptidase_MA_2 355 502 1.4e-21 PFAM
Pfam:ERAP1_C 618 944 2.9e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107392
AA Change: E518K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: E518K

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 44 64 N/A INTRINSIC
Pfam:Peptidase_M1 75 479 2.5e-139 PFAM
Pfam:ERAP1_C 618 943 2e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149164
Predicted Effect probably benign
Transcript: ENSMUST00000205502
Predicted Effect probably benign
Transcript: ENSMUST00000206235
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 96% (69/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 A G 11: 53,287,380 (GRCm39) D378G probably damaging Het
Aox1 T C 1: 58,124,701 (GRCm39) Y981H probably damaging Het
Arfgap2 T A 2: 91,100,420 (GRCm39) probably null Het
Ccnf TGGGGG TGGGGGGG 17: 24,445,514 (GRCm39) probably null Het
Cd53 T C 3: 106,676,205 (GRCm39) N54S possibly damaging Het
Cep152 C A 2: 125,408,174 (GRCm39) A1390S probably benign Het
Cfap91 A G 16: 38,162,085 (GRCm39) Y19H probably benign Het
Chd7 T C 4: 8,864,307 (GRCm39) probably null Het
Chrm5 A G 2: 112,309,625 (GRCm39) L497P probably damaging Het
Colec12 G A 18: 9,866,765 (GRCm39) V659M unknown Het
Creb3 C A 4: 43,566,755 (GRCm39) H390Q probably damaging Het
D1Pas1 T C 1: 186,700,226 (GRCm39) F52L probably benign Het
D5Ertd579e A G 5: 36,771,441 (GRCm39) F985L probably damaging Het
Dock4 C T 12: 40,884,721 (GRCm39) P1742S probably benign Het
Ehmt2 G T 17: 35,125,386 (GRCm39) V534L possibly damaging Het
Epcam A G 17: 87,947,324 (GRCm39) D26G probably benign Het
F2 C T 2: 91,459,524 (GRCm39) V420M probably damaging Het
Fbxw16 A T 9: 109,265,327 (GRCm39) D401E possibly damaging Het
Fiz1 T C 7: 5,011,727 (GRCm39) T264A probably benign Het
Fsbp T C 4: 11,583,745 (GRCm39) V148A probably benign Het
Furin A G 7: 80,042,230 (GRCm39) L455P probably damaging Het
Ggt7 G A 2: 155,348,395 (GRCm39) R10W probably damaging Het
Gucy2g T C 19: 55,211,358 (GRCm39) E624G probably damaging Het
Igf2r A G 17: 12,923,203 (GRCm39) F1202S probably damaging Het
Ikzf1 C T 11: 11,657,838 (GRCm39) P32S probably damaging Het
Itgal G A 7: 126,904,453 (GRCm39) V309M probably damaging Het
Kcnk5 C A 14: 20,191,964 (GRCm39) R399L probably damaging Het
Kdm5b C T 1: 134,525,314 (GRCm39) probably benign Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Lrp4 T C 2: 91,322,698 (GRCm39) Y1096H probably damaging Het
Lrrc7 C G 3: 157,790,170 (GRCm39) S1465T possibly damaging Het
Map3k5 A G 10: 19,979,988 (GRCm39) N832S probably damaging Het
Mrtfb C A 16: 13,216,334 (GRCm39) L349I possibly damaging Het
Mrtfb T A 16: 13,216,335 (GRCm39) L349Q probably damaging Het
Myh13 A C 11: 67,232,310 (GRCm39) M495L possibly damaging Het
Myh9 A C 15: 77,697,097 (GRCm39) Y106D probably damaging Het
Naa16 A T 14: 79,588,896 (GRCm39) W452R probably damaging Het
Nsd1 T C 13: 55,395,074 (GRCm39) S892P probably benign Het
Nup205 A G 6: 35,187,906 (GRCm39) I939V probably benign Het
Oit3 A G 10: 59,261,239 (GRCm39) F476S probably damaging Het
Or7e174 T C 9: 20,012,883 (GRCm39) V276A probably benign Het
Panx3 A T 9: 37,580,203 (GRCm39) M50K possibly damaging Het
Panx3 A C 9: 37,580,242 (GRCm39) M37R possibly damaging Het
Pip4p2 T A 4: 14,886,631 (GRCm39) D68E probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prkaca T A 8: 84,707,827 (GRCm39) D37E probably benign Het
Prkcq T A 2: 11,259,010 (GRCm39) I310N probably damaging Het
Prrc2c A G 1: 162,546,282 (GRCm39) Y235H probably damaging Het
Ptprj A T 2: 90,280,141 (GRCm39) C1052* probably null Het
Rad52 C A 6: 119,892,996 (GRCm39) P180Q probably damaging Het
Sdhaf3 T A 6: 7,038,964 (GRCm39) D95E probably benign Het
Slitrk6 A G 14: 110,988,360 (GRCm39) I449T probably damaging Het
Spata7 T A 12: 98,630,516 (GRCm39) M358K possibly damaging Het
Tada2a C T 11: 83,972,895 (GRCm39) G178D probably damaging Het
Tap2 G C 17: 34,428,186 (GRCm39) V287L probably benign Het
Tmem200a A G 10: 25,869,877 (GRCm39) F131L possibly damaging Het
Traip A T 9: 107,847,229 (GRCm39) K356M probably damaging Het
Tspan8 T A 10: 115,679,949 (GRCm39) probably benign Het
U2surp A T 9: 95,393,913 (GRCm39) M1K probably null Het
Vars1 A T 17: 35,217,172 (GRCm39) D427E probably benign Het
Vmn1r113 G A 7: 20,521,532 (GRCm39) C108Y probably damaging Het
Vmn2r63 T A 7: 42,577,743 (GRCm39) Q265L probably benign Het
Vps33b T A 7: 79,937,641 (GRCm39) V463E probably damaging Het
Vrtn T C 12: 84,695,429 (GRCm39) S60P probably benign Het
Zfp53 T A 17: 21,729,884 (GRCm39) V639D possibly damaging Het
Zfp964 T A 8: 70,116,800 (GRCm39) S466T possibly damaging Het
Other mutations in Anpep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Anpep APN 7 79,475,484 (GRCm39) missense possibly damaging 0.64
IGL00089:Anpep APN 7 79,491,734 (GRCm39) missense probably damaging 1.00
IGL00767:Anpep APN 7 79,490,638 (GRCm39) missense probably benign 0.00
IGL00901:Anpep APN 7 79,489,171 (GRCm39) missense probably benign
IGL01919:Anpep APN 7 79,475,098 (GRCm39) missense possibly damaging 0.77
IGL02049:Anpep APN 7 79,484,929 (GRCm39) missense probably damaging 0.97
IGL02195:Anpep APN 7 79,476,433 (GRCm39) missense probably damaging 1.00
IGL02210:Anpep APN 7 79,476,652 (GRCm39) missense probably benign 0.00
IGL02584:Anpep APN 7 79,475,141 (GRCm39) splice site probably benign
IGL02677:Anpep APN 7 79,488,478 (GRCm39) missense probably damaging 1.00
IGL03073:Anpep APN 7 79,488,703 (GRCm39) missense probably damaging 1.00
IGL03100:Anpep APN 7 79,486,109 (GRCm39) missense probably benign 0.01
PIT4696001:Anpep UTSW 7 79,489,212 (GRCm39) missense possibly damaging 0.85
R0329:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R0330:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R0619:Anpep UTSW 7 79,490,757 (GRCm39) missense probably benign
R0691:Anpep UTSW 7 79,489,047 (GRCm39) missense probably damaging 0.98
R1004:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1005:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1274:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1288:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1289:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1532:Anpep UTSW 7 79,476,696 (GRCm39) nonsense probably null
R1540:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1574:Anpep UTSW 7 79,488,155 (GRCm39) splice site probably null
R1574:Anpep UTSW 7 79,488,155 (GRCm39) splice site probably null
R1618:Anpep UTSW 7 79,485,165 (GRCm39) missense probably benign 0.00
R1627:Anpep UTSW 7 79,491,759 (GRCm39) missense probably benign
R1717:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1745:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1746:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1748:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1809:Anpep UTSW 7 79,491,571 (GRCm39) missense probably benign 0.01
R1901:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1902:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1903:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
R1985:Anpep UTSW 7 79,490,605 (GRCm39) splice site probably null
R2379:Anpep UTSW 7 79,490,966 (GRCm39) missense probably benign 0.28
R2508:Anpep UTSW 7 79,488,039 (GRCm39) missense possibly damaging 0.80
R3110:Anpep UTSW 7 79,491,720 (GRCm39) missense probably benign 0.15
R3112:Anpep UTSW 7 79,491,720 (GRCm39) missense probably benign 0.15
R3898:Anpep UTSW 7 79,488,973 (GRCm39) missense probably benign 0.07
R3899:Anpep UTSW 7 79,488,973 (GRCm39) missense probably benign 0.07
R3900:Anpep UTSW 7 79,488,973 (GRCm39) missense probably benign 0.07
R4211:Anpep UTSW 7 79,490,744 (GRCm39) nonsense probably null
R4701:Anpep UTSW 7 79,489,213 (GRCm39) missense probably benign 0.16
R4716:Anpep UTSW 7 79,476,380 (GRCm39) missense probably benign 0.00
R5020:Anpep UTSW 7 79,483,475 (GRCm39) missense probably benign
R5042:Anpep UTSW 7 79,489,217 (GRCm39) missense probably benign 0.00
R5084:Anpep UTSW 7 79,476,618 (GRCm39) critical splice donor site probably null
R5319:Anpep UTSW 7 79,491,479 (GRCm39) missense probably benign
R5593:Anpep UTSW 7 79,491,794 (GRCm39) missense probably benign 0.04
R5778:Anpep UTSW 7 79,486,139 (GRCm39) missense probably benign 0.00
R5852:Anpep UTSW 7 79,488,720 (GRCm39) nonsense probably null
R5906:Anpep UTSW 7 79,483,423 (GRCm39) missense probably benign
R6164:Anpep UTSW 7 79,491,953 (GRCm39) missense possibly damaging 0.68
R6254:Anpep UTSW 7 79,488,981 (GRCm39) missense probably damaging 1.00
R6284:Anpep UTSW 7 79,475,550 (GRCm39) missense probably damaging 1.00
R6380:Anpep UTSW 7 79,491,644 (GRCm39) missense probably benign 0.04
R6594:Anpep UTSW 7 79,491,109 (GRCm39) splice site probably null
R6746:Anpep UTSW 7 79,488,933 (GRCm39) splice site probably null
R6920:Anpep UTSW 7 79,475,097 (GRCm39) missense probably damaging 1.00
R7060:Anpep UTSW 7 79,491,542 (GRCm39) missense probably benign 0.33
R7072:Anpep UTSW 7 79,485,127 (GRCm39) missense possibly damaging 0.58
R7095:Anpep UTSW 7 79,491,950 (GRCm39) missense possibly damaging 0.87
R7102:Anpep UTSW 7 79,486,061 (GRCm39) missense probably benign 0.00
R7178:Anpep UTSW 7 79,490,736 (GRCm39) missense probably benign
R7223:Anpep UTSW 7 79,475,058 (GRCm39) missense probably damaging 1.00
R7344:Anpep UTSW 7 79,488,398 (GRCm39) missense possibly damaging 0.60
R7441:Anpep UTSW 7 79,477,392 (GRCm39) missense possibly damaging 0.93
R7479:Anpep UTSW 7 79,485,118 (GRCm39) missense probably benign 0.11
R7503:Anpep UTSW 7 79,476,385 (GRCm39) missense probably damaging 1.00
R7683:Anpep UTSW 7 79,488,946 (GRCm39) missense probably damaging 0.98
R7912:Anpep UTSW 7 79,488,174 (GRCm39) missense probably benign 0.00
R7935:Anpep UTSW 7 79,476,709 (GRCm39) missense possibly damaging 0.46
R8036:Anpep UTSW 7 79,491,646 (GRCm39) missense probably benign 0.11
R8039:Anpep UTSW 7 79,489,148 (GRCm39) critical splice donor site probably null
R8470:Anpep UTSW 7 79,489,269 (GRCm39) missense probably benign 0.16
R8549:Anpep UTSW 7 79,490,644 (GRCm39) missense probably benign 0.00
R8723:Anpep UTSW 7 79,488,686 (GRCm39) missense probably damaging 1.00
R8726:Anpep UTSW 7 79,490,641 (GRCm39) missense probably benign 0.00
R9042:Anpep UTSW 7 79,488,510 (GRCm39) missense probably damaging 0.99
R9151:Anpep UTSW 7 79,491,785 (GRCm39) missense probably benign 0.31
R9200:Anpep UTSW 7 79,490,870 (GRCm39) missense probably benign 0.00
R9216:Anpep UTSW 7 79,486,049 (GRCm39) missense possibly damaging 0.49
R9570:Anpep UTSW 7 79,476,661 (GRCm39) missense probably benign 0.00
R9769:Anpep UTSW 7 79,488,478 (GRCm39) missense probably damaging 1.00
Z1176:Anpep UTSW 7 79,477,387 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GGCTATGAGCAGAGGTTTTACCCAC -3'
(R):5'- TGCCACTCTGGGAATGCTTGAC -3'

Sequencing Primer
(F):5'- ATTACTGAGCACAGCAGCTG -3'
(R):5'- TCCAGTTTCCTGACAGAGGAC -3'
Posted On 2014-05-14