Incidental Mutation 'R7503:Anpep'
ID 581620
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 045576-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7503 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79476385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 827 (L827P)
Ref Sequence ENSEMBL: ENSMUSP00000035943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502]
AlphaFold P97449
Predicted Effect probably damaging
Transcript: ENSMUST00000049004
AA Change: L827P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: L827P

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 damaging
Transcript: ENSMUST00000107392
AA Change: L827P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: L827P

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 probably damaging
Transcript: ENSMUST00000205502
AA Change: L81P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9580 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik G A 8: 12,329,554 (GRCm39) G3D unknown Het
Aif1 A T 17: 35,390,549 (GRCm39) I67N probably damaging Het
Akap11 T C 14: 78,749,441 (GRCm39) D982G Het
Arhgef5 A T 6: 43,250,933 (GRCm39) K561N probably benign Het
Arsj T C 3: 126,158,493 (GRCm39) F24S probably benign Het
Bard1 T C 1: 71,069,995 (GRCm39) D661G probably damaging Het
Cc2d2b A G 19: 40,783,056 (GRCm39) I618V unknown Het
Cfap251 G T 5: 123,435,521 (GRCm39) E994* probably null Het
Cfap54 T A 10: 92,723,298 (GRCm39) probably null Het
Cfhr2 T A 1: 139,758,952 (GRCm39) I33F probably damaging Het
Dsc1 G A 18: 20,218,922 (GRCm39) H827Y probably damaging Het
Eif3i C T 4: 129,494,207 (GRCm39) D31N probably damaging Het
Eno1b A T 18: 48,179,878 (GRCm39) T19S probably damaging Het
Eva1a G A 6: 82,048,210 (GRCm39) W29* probably null Het
Evc T C 5: 37,458,111 (GRCm39) K803R unknown Het
F5 T A 1: 164,019,779 (GRCm39) N751K probably damaging Het
Fam120a A T 13: 49,102,723 (GRCm39) N177K probably benign Het
Farp2 T G 1: 93,495,219 (GRCm39) I164R probably benign Het
Gm20379 C T 13: 92,442,565 (GRCm39) P26L Het
Hmgcs2 T C 3: 98,209,940 (GRCm39) S433P probably damaging Het
Inava T C 1: 136,143,675 (GRCm39) D587G possibly damaging Het
Ints2 T C 11: 86,122,881 (GRCm39) T633A probably benign Het
Invs C T 4: 48,396,347 (GRCm39) T340M probably damaging Het
Mef2c A C 13: 83,810,623 (GRCm39) D391A possibly damaging Het
Msh4 A C 3: 153,573,387 (GRCm39) S756A probably damaging Het
Mylk3 T C 8: 86,080,218 (GRCm39) T490A probably benign Het
Myo1b A T 1: 51,815,761 (GRCm39) probably null Het
Nsmce1 A G 7: 125,071,106 (GRCm39) S107P probably benign Het
Or52a24 T A 7: 103,381,474 (GRCm39) S114T probably damaging Het
Or5d43 T C 2: 88,105,039 (GRCm39) Y118C probably damaging Het
Pcdhb21 G A 18: 37,648,028 (GRCm39) D386N probably benign Het
Pcdhb22 T G 18: 37,652,155 (GRCm39) L208V probably benign Het
Pigu C T 2: 155,173,064 (GRCm39) probably null Het
Plcz1 T A 6: 139,936,474 (GRCm39) E585V probably damaging Het
Pnpla7 C A 2: 24,873,544 (GRCm39) C183* probably null Het
Pomgnt1 T C 4: 116,009,949 (GRCm39) V133A possibly damaging Het
Prl3d3 A G 13: 27,345,096 (GRCm39) Y156C probably benign Het
Prpf39 A G 12: 65,100,167 (GRCm39) D280G probably benign Het
Recql5 C A 11: 115,785,881 (GRCm39) A631S probably benign Het
Runx3 C A 4: 134,882,679 (GRCm39) N138K probably damaging Het
Scaper T C 9: 55,715,038 (GRCm39) D750G probably damaging Het
Slc16a3 T C 11: 120,847,853 (GRCm39) L347P probably damaging Het
Slc25a1 G T 16: 17,744,303 (GRCm39) Y209* probably null Het
Smad2 A G 18: 76,419,956 (GRCm39) S88G probably benign Het
Sorcs1 A G 19: 50,141,490 (GRCm39) C1125R probably benign Het
Spata21 T A 4: 140,822,614 (GRCm39) I140N probably benign Het
Speer3 A T 5: 13,843,348 (GRCm39) D85V probably benign Het
Spopfm1 A T 3: 94,173,780 (GRCm39) M259L probably benign Het
Stra6 A G 9: 58,058,528 (GRCm39) N463S possibly damaging Het
Tmem14a T G 1: 21,299,623 (GRCm39) probably null Het
Tsc1 T A 2: 28,577,088 (GRCm39) L1130Q possibly damaging Het
Ttn T C 2: 76,611,401 (GRCm39) D17377G possibly damaging Het
Utf1 A G 7: 139,524,046 (GRCm39) D87G probably damaging Het
Vmn2r6 G A 3: 64,447,372 (GRCm39) Q565* probably null Het
Vmn2r63 A T 7: 42,583,014 (GRCm39) M67K probably benign Het
Vmn2r90 T C 17: 17,933,510 (GRCm39) Y357H not run Het
Vmn2r97 A G 17: 19,148,470 (GRCm39) T122A probably benign Het
Wdhd1 T C 14: 47,488,248 (GRCm39) E753G probably benign Het
Wdr11 A G 7: 129,204,834 (GRCm39) N213S probably benign Het
Xdh A C 17: 74,233,205 (GRCm39) D207E probably damaging Het
Zfp281 T A 1: 136,554,678 (GRCm39) I552N possibly damaging Het
Zzef1 T A 11: 72,716,893 (GRCm39) I361K probably 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
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
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
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'- CAGCAGTTAAGAGTTAGGGATCTGG -3'
(R):5'- TTGGCCTAAATAGAGCCCCAG -3'

Sequencing Primer
(F):5'- GACCCTGCCTTAGTCACATAC -3'
(R):5'- CAGGCCAGTCATAGGCAAC -3'
Posted On 2019-10-17