Incidental Mutation 'R1746:Anpep'
ID 193981
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 039778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1746 (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: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,927,717 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aknad1 A G 3: 108,659,099 (GRCm39) T38A possibly damaging Het
Arhgap21 T C 2: 20,865,910 (GRCm39) E902G probably damaging Het
Atg2b A G 12: 105,635,588 (GRCm39) S227P possibly damaging Het
Atp2c2 C T 8: 120,461,182 (GRCm39) probably benign Het
Atxn10 T C 15: 85,260,864 (GRCm39) V203A probably damaging Het
Chd9 A C 8: 91,737,326 (GRCm39) E1468D probably benign Het
Cntn5 T A 9: 9,831,577 (GRCm39) D601V probably damaging Het
Col4a2 G A 8: 11,496,020 (GRCm39) G1547D probably benign Het
Cul1 A G 6: 47,485,179 (GRCm39) E270G probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dmgdh C A 13: 93,888,933 (GRCm39) T857K probably benign Het
Ednra T G 8: 78,398,211 (GRCm39) T279P probably benign Het
Erbin A G 13: 103,987,339 (GRCm39) I407T probably damaging Het
Fggy A G 4: 95,814,965 (GRCm39) Y440C probably damaging Het
Flrt2 A T 12: 95,747,566 (GRCm39) N635Y possibly damaging Het
Fnbp1l A G 3: 122,350,140 (GRCm39) I357T probably benign Het
Gulp1 A G 1: 44,793,513 (GRCm39) H58R possibly damaging Het
Hid1 A T 11: 115,245,464 (GRCm39) V446E probably damaging Het
Igfn1 A G 1: 135,897,561 (GRCm39) S1002P possibly damaging Het
Klri1 A G 6: 129,675,118 (GRCm39) probably null Het
Kmt2d A C 15: 98,762,259 (GRCm39) L409R probably damaging Het
Ltn1 A C 16: 87,208,669 (GRCm39) S810A possibly damaging Het
Mysm1 G A 4: 94,836,648 (GRCm39) Q721* probably null Het
Nae1 A G 8: 105,254,017 (GRCm39) V105A possibly damaging Het
Nagpa C T 16: 5,021,503 (GRCm39) V83M probably damaging Het
Nrg2 G A 18: 36,154,975 (GRCm39) T503M probably damaging Het
Nrxn3 A G 12: 89,221,789 (GRCm39) M150V possibly damaging Het
Or5p52 C A 7: 107,502,093 (GRCm39) H56Q probably benign Het
Or8g28 A G 9: 39,169,498 (GRCm39) S157P probably damaging Het
Papola T A 12: 105,773,468 (GRCm39) D162E probably benign Het
Plxnc1 T C 10: 94,680,041 (GRCm39) probably null Het
Ppp1r16b T A 2: 158,588,585 (GRCm39) probably null Het
Ptprq T A 10: 107,474,691 (GRCm39) E1338V probably damaging Het
Puf60 G A 15: 75,942,633 (GRCm39) H437Y probably benign Het
Qsox2 C T 2: 26,110,650 (GRCm39) V189I probably benign Het
Rad51ap2 A T 12: 11,507,776 (GRCm39) D566V probably benign Het
Rb1cc1 T A 1: 6,333,237 (GRCm39) probably null Het
Rfpl4b C T 10: 38,697,049 (GRCm39) C184Y possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Scara5 A C 14: 65,968,539 (GRCm39) M271L probably benign Het
Sel1l2 A G 2: 140,127,157 (GRCm39) L118P probably damaging Het
Sema6a T A 18: 47,439,416 (GRCm39) probably benign Het
Siglech T A 7: 55,418,252 (GRCm39) H73Q probably benign Het
Sim1 A G 10: 50,860,205 (GRCm39) D689G probably benign Het
Skp2 T C 15: 9,139,530 (GRCm39) E55G possibly damaging Het
Slc1a1 T A 19: 28,871,869 (GRCm39) V114E probably benign Het
Slc26a6 G A 9: 108,738,916 (GRCm39) G614D probably benign Het
Sptbn2 C T 19: 4,795,992 (GRCm39) Q1724* probably null Het
Tet3 T C 6: 83,345,050 (GRCm39) T1796A probably damaging Het
Tmem117 A C 15: 94,829,714 (GRCm39) D183A possibly damaging Het
Trmt44 A G 5: 35,721,403 (GRCm39) S587P probably benign Het
Ttn G T 2: 76,619,166 (GRCm39) probably benign Het
Tubgcp5 G A 7: 55,458,285 (GRCm39) V399M probably benign Het
Txndc2 T A 17: 65,945,130 (GRCm39) D349V probably damaging Het
Uggt2 T A 14: 119,250,915 (GRCm39) N1194I probably benign Het
Vmn1r178 A T 7: 23,593,329 (GRCm39) I53L probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript 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
R1693:Anpep UTSW 7 79,488,004 (GRCm39) missense probably benign 0.01
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
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 2014-05-23