Incidental Mutation 'R6920:Anpep'
ID 539575
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 045040-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6920 (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 79475097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 155 (I155N)
Ref Sequence ENSEMBL: ENSMUSP00000145682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502]
AlphaFold P97449
Predicted Effect probably damaging
Transcript: ENSMUST00000049004
AA Change: I901N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: I901N

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: I901N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: I901N

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: I155N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,773,811 (GRCm39) Y1000F probably damaging Het
1700018B08Rik A G 8: 122,262,160 (GRCm39) probably null Het
Aadat T C 8: 60,982,467 (GRCm39) F245L probably damaging Het
Adcy10 T G 1: 165,403,227 (GRCm39) L1575W probably damaging Het
Anks4b A T 7: 119,782,231 (GRCm39) T421S probably damaging Het
Arnt T C 3: 95,397,932 (GRCm39) F572L probably damaging Het
Brip1 G A 11: 86,039,362 (GRCm39) Q391* probably null Het
Brpf3 C A 17: 29,042,970 (GRCm39) H1004N probably benign Het
Cand2 T A 6: 115,768,250 (GRCm39) V465D possibly damaging Het
Card10 G T 15: 78,686,609 (GRCm39) Y69* probably null Het
Catsperd A T 17: 56,962,175 (GRCm39) K450* probably null Het
Ccdc137 T C 11: 120,351,009 (GRCm39) L137P probably damaging Het
Cic T C 7: 24,990,107 (GRCm39) S1905P probably damaging Het
Csmd3 C T 15: 47,507,601 (GRCm39) G2971S probably damaging Het
Dmxl2 A G 9: 54,379,496 (GRCm39) Y183H probably damaging Het
Drosha T C 15: 12,834,396 (GRCm39) Y167H unknown Het
E330034G19Rik A G 14: 24,358,310 (GRCm39) K214R unknown Het
Fam180a T G 6: 35,290,765 (GRCm39) I73L possibly damaging Het
Fbxo28 G T 1: 182,168,986 (GRCm39) H51N probably benign Het
Gm12728 T G 4: 105,647,533 (GRCm39) probably null Het
Gm973 T C 1: 59,591,620 (GRCm39) C335R possibly damaging Het
Gpx8 A G 13: 113,179,770 (GRCm39) V177A probably damaging Het
Hdlbp A G 1: 93,340,083 (GRCm39) probably null Het
Htt T G 5: 35,034,444 (GRCm39) Y1972D probably null Het
Igkv6-14 T C 6: 70,412,116 (GRCm39) Y56C possibly damaging Het
Kcnma1 A G 14: 23,576,602 (GRCm39) probably null Het
Klc1 T C 12: 111,754,019 (GRCm39) S105P probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lamc3 A G 2: 31,798,701 (GRCm39) D469G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Mboat4 G A 8: 34,591,865 (GRCm39) R434H probably benign Het
Mttp T C 3: 137,821,043 (GRCm39) K270E possibly damaging Het
Muc5ac G A 7: 141,347,035 (GRCm39) C337Y possibly damaging Het
Nars1 A G 18: 64,634,471 (GRCm39) V484A probably damaging Het
Noxa1 G T 2: 24,981,844 (GRCm39) probably null Het
Or14c45 A G 7: 86,176,522 (GRCm39) T186A probably benign Het
Or7g18 T A 9: 18,786,821 (GRCm39) L63H probably damaging Het
Osbpl7 G A 11: 96,941,584 (GRCm39) G36S probably damaging Het
P4htm C T 9: 108,460,812 (GRCm39) G220D probably benign Het
Pcdhga7 A G 18: 37,848,199 (GRCm39) I69V probably benign Het
Pla2g4e C T 2: 120,015,795 (GRCm39) E250K possibly damaging Het
Plcd4 A G 1: 74,604,994 (GRCm39) probably benign Het
Ppfia3 C A 7: 45,008,231 (GRCm39) G213V possibly damaging Het
Ppp1r1a A G 15: 103,441,513 (GRCm39) S67P probably damaging Het
Prss43 T C 9: 110,657,680 (GRCm39) F193S probably benign Het
Rfx1 A G 8: 84,822,117 (GRCm39) Y872C probably damaging Het
Rhot1 T A 11: 80,132,921 (GRCm39) N218K probably benign Het
Sall1 A G 8: 89,757,021 (GRCm39) F1028L probably damaging Het
Siglec1 G A 2: 130,919,997 (GRCm39) Q845* probably null Het
Slc38a9 C T 13: 112,838,060 (GRCm39) T275I possibly damaging Het
Slc39a4 A T 15: 76,497,470 (GRCm39) S481T probably damaging Het
Ssr1 A T 13: 38,169,998 (GRCm39) N191K probably damaging Het
Tenm4 A T 7: 96,544,757 (GRCm39) S2258C probably damaging Het
Tm7sf3 T G 6: 146,507,645 (GRCm39) R472S possibly damaging Het
Tmprss11a G A 5: 86,576,494 (GRCm39) T119M probably benign Het
Traip C T 9: 107,838,240 (GRCm39) R142* probably null Het
Utrn T C 10: 12,626,214 (GRCm39) N100D probably damaging Het
Vmn1r74 T C 7: 11,581,575 (GRCm39) S292P probably benign Het
Vmn2r71 A T 7: 85,273,108 (GRCm39) I641F probably damaging Het
Vmn2r9 T A 5: 108,996,912 (GRCm39) Y119F possibly damaging Het
Vmn2r98 A G 17: 19,285,510 (GRCm39) N110S probably damaging Het
Vwce A G 19: 10,642,057 (GRCm39) T928A probably benign Het
Zfp608 T A 18: 55,121,337 (GRCm39) K83N probably damaging Het
Zfp808 A G 13: 62,320,982 (GRCm39) H737R probably benign Het
Zswim4 T C 8: 84,940,714 (GRCm39) N795S 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
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'- AGTTACTTCGGAGACTCGGG -3'
(R):5'- TGTTCAAGACTTGCCTCCTG -3'

Sequencing Primer
(F):5'- GGCTCACTCTAGGCTATCGATG -3'
(R):5'- ATGGCCTGGGAGGGTCTC -3'
Posted On 2018-11-06