Incidental Mutation 'R7095:Anpep'
ID 550418
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 045243-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7095 (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 T at 79491950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 17 (L17Q)
Ref Sequence ENSEMBL: ENSMUSP00000035943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502] [ENSMUST00000206235]
AlphaFold P97449
Predicted Effect possibly damaging
Transcript: ENSMUST00000049004
AA Change: L17Q

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: L17Q

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 possibly damaging
Transcript: ENSMUST00000107392
AA Change: L17Q

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: L17Q

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 benign
Transcript: ENSMUST00000205502
Predicted Effect possibly damaging
Transcript: ENSMUST00000206235
AA Change: L17Q

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (71/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 36,268,403 (GRCm39) V809A possibly damaging Het
Adam32 T A 8: 25,404,086 (GRCm39) D242V probably damaging Het
Adamts9 T A 6: 92,864,672 (GRCm39) H763L probably benign Het
Aff1 A G 5: 103,990,951 (GRCm39) D967G probably damaging Het
Appbp2 G T 11: 85,125,553 (GRCm39) S28* probably null Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bod1l A G 5: 41,952,411 (GRCm39) probably null Het
Capn5 G A 7: 97,775,038 (GRCm39) T534I probably benign Het
Cbx2 T C 11: 118,918,885 (GRCm39) I150T probably damaging Het
Cdh11 A G 8: 103,384,899 (GRCm39) V392A probably damaging Het
Cenpf A T 1: 189,391,373 (GRCm39) C803S probably benign Het
Cep135 A G 5: 76,741,905 (GRCm39) T114A probably benign Het
Chd2 A T 7: 73,121,629 (GRCm39) D994E probably damaging Het
Chtf18 C A 17: 25,941,652 (GRCm39) W584C probably damaging Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dgkh C A 14: 78,865,224 (GRCm39) M172I probably benign Het
Dpy19l2 T G 9: 24,607,110 (GRCm39) H117P probably benign Het
Dzip3 A T 16: 48,748,153 (GRCm39) N908K probably benign Het
Erc2 A T 14: 27,620,550 (GRCm39) N393Y probably damaging Het
Fam118b T C 9: 35,132,786 (GRCm39) E291G possibly damaging Het
Fam193a C T 5: 34,615,378 (GRCm39) L816F probably damaging Het
Fat2 A G 11: 55,202,157 (GRCm39) Y306H probably damaging Het
Fndc10 C T 4: 155,779,574 (GRCm39) T206I probably damaging Het
Fzd1 GGGACTCCTCCACCTCCCTGGA GGGA 5: 4,805,824 (GRCm39) probably benign Het
Gsk3a A T 7: 24,933,279 (GRCm39) Y177N probably damaging Het
Haus5 T C 7: 30,358,997 (GRCm39) T222A probably benign Het
Igfbp7 G T 5: 77,549,337 (GRCm39) Q189K probably benign Het
Inppl1 A T 7: 101,476,663 (GRCm39) Y771* probably null Het
Iqck A T 7: 118,514,814 (GRCm39) Y234F probably damaging Het
Irs1 G T 1: 82,267,819 (GRCm39) C132* probably null Het
Jmjd1c T G 10: 67,055,411 (GRCm39) V277G probably benign Het
Klhl22 G A 16: 17,610,614 (GRCm39) V622M probably damaging Het
Kri1 C T 9: 21,190,728 (GRCm39) E378K Het
Lilra6 C T 7: 3,916,196 (GRCm39) G221D probably damaging Het
Mecom T C 3: 30,035,103 (GRCm39) E191G probably damaging Het
Mgrn1 T A 16: 4,745,528 (GRCm39) probably null Het
Mical1 C T 10: 41,355,206 (GRCm39) probably null Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Mpl T A 4: 118,301,260 (GRCm39) H535L Het
Mtarc1 A G 1: 184,527,437 (GRCm39) L297P probably damaging Het
Mtfr2 C A 10: 20,228,666 (GRCm39) H71N probably benign Het
Mtrf1 GCCTTC GC 14: 79,660,931 (GRCm39) probably null Het
Myh15 A G 16: 48,992,272 (GRCm39) Q1582R possibly damaging Het
Neb C T 2: 52,067,635 (GRCm39) E6062K possibly damaging Het
Nlrp4c G A 7: 6,063,792 (GRCm39) A67T probably damaging Het
Noc3l T A 19: 38,800,789 (GRCm39) H231L probably benign Het
Odf1 T C 15: 38,219,803 (GRCm39) Y44H possibly damaging Het
Or52e2 G A 7: 102,804,537 (GRCm39) T139I probably damaging Het
Or52s1b C T 7: 102,822,253 (GRCm39) R197H probably benign Het
Or5j3 C T 2: 86,129,021 (GRCm39) P287L probably benign Het
Otol1 G T 3: 69,926,027 (GRCm39) E67D probably benign Het
Otud7b A G 3: 96,062,554 (GRCm39) S598G probably benign Het
Ppwd1 T A 13: 104,342,134 (GRCm39) T607S probably benign Het
Prag1 A G 8: 36,569,714 (GRCm39) N99S probably benign Het
Ralgds C A 2: 28,439,320 (GRCm39) Q737K possibly damaging Het
Scyl2 T C 10: 89,505,549 (GRCm39) H98R probably damaging Het
Secisbp2 A C 13: 51,831,290 (GRCm39) Q575H probably benign Het
Slc9a5 A T 8: 106,084,268 (GRCm39) H497L probably benign Het
Sufu T A 19: 46,464,027 (GRCm39) V414E probably damaging Het
Tbc1d22b A T 17: 29,818,843 (GRCm39) E399V probably damaging Het
Tcp10c G A 17: 13,576,196 (GRCm39) V59I probably benign Het
Tdpoz3 T C 3: 93,734,368 (GRCm39) S348P probably benign Het
Tmem219 A T 7: 126,490,928 (GRCm39) F176L probably damaging Het
Trav6-2 A G 14: 52,905,291 (GRCm39) D104G probably damaging Het
Uba7 A G 9: 107,860,538 (GRCm39) K927R probably benign Het
Vps54 T G 11: 21,221,720 (GRCm39) D158E probably benign Het
Xpnpep1 C T 19: 53,000,196 (GRCm39) probably null Het
Xpo7 G A 14: 70,942,146 (GRCm39) R73W probably damaging Het
Zfp532 A T 18: 65,815,969 (GRCm39) M781L probably benign Het
Zfp930 T A 8: 69,681,193 (GRCm39) I295K probably benign 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
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'- GGAGTCAGGTATAAGAGTCTTAGGC -3'
(R):5'- TGTCCAGCCTAGTGACCTTC -3'

Sequencing Primer
(F):5'- CTTAGGCAAGCGATACTGGTTCC -3'
(R):5'- TAGTGACCTTCGCCTGAGC -3'
Posted On 2019-05-15