Incidental Mutation 'R5778:Anpep'
ID 446816
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 043376-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5778 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79486139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 528 (T528A)
Ref Sequence ENSEMBL: ENSMUSP00000103015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502]
AlphaFold P97449
Predicted Effect probably benign
Transcript: ENSMUST00000049004
AA Change: T528A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: T528A

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: T528A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: T528A

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 noncoding transcript
Transcript: ENSMUST00000206387
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 A G 8: 124,618,864 (GRCm39) S340P probably benign Het
Apob T A 12: 8,065,074 (GRCm39) D4014E probably benign Het
Atp23 A G 10: 126,735,451 (GRCm39) C78R probably damaging Het
Atp8b3 A G 10: 80,356,007 (GRCm39) F1235S probably benign Het
B3gnt3 T C 8: 72,145,582 (GRCm39) D262G probably benign Het
Bltp1 A T 3: 37,012,863 (GRCm39) I1848F probably damaging Het
Brca1 G A 11: 101,416,127 (GRCm39) A669V possibly damaging Het
Caprin2 A T 6: 148,770,820 (GRCm39) S391R probably benign Het
Cdh15 G A 8: 123,583,326 (GRCm39) R43Q possibly damaging Het
Celsr1 A T 15: 85,917,156 (GRCm39) N272K probably damaging Het
Cryzl2 T G 1: 157,298,357 (GRCm39) S249A probably benign Het
Dsg1b A T 18: 20,542,279 (GRCm39) T929S possibly damaging Het
Dusp16 G T 6: 134,695,277 (GRCm39) T518N probably benign Het
Eno2 A T 6: 124,743,261 (GRCm39) H158Q probably damaging Het
Ep400 T C 5: 110,867,450 (GRCm39) D954G unknown Het
Erg28 T C 12: 85,866,254 (GRCm39) T75A possibly damaging Het
Fam135b T A 15: 71,350,881 (GRCm39) T332S probably damaging Het
Fam221b A G 4: 43,660,683 (GRCm39) F357L probably damaging Het
Fcgr2b C T 1: 170,790,957 (GRCm39) G279R probably damaging Het
Fryl A T 5: 73,230,121 (GRCm39) L1679M probably damaging Het
Galm T A 17: 80,435,146 (GRCm39) M1K probably null Het
Gsg1 A T 6: 135,221,348 (GRCm39) I17N possibly damaging Het
Hif3a A T 7: 16,785,909 (GRCm39) I129N probably damaging Het
Ighv1-11 A T 12: 114,576,051 (GRCm39) W55R probably damaging Het
Ighv1-20 C A 12: 114,687,497 (GRCm39) K82N probably benign Het
Igsf21 C T 4: 139,764,832 (GRCm39) E148K probably benign Het
Il22b C A 10: 118,130,768 (GRCm39) E43* probably null Het
Klhdc7b A T 15: 89,271,523 (GRCm39) R802W probably damaging Het
Krt8 T C 15: 101,912,374 (GRCm39) I101V probably damaging Het
Lrrc7 A G 3: 157,876,380 (GRCm39) L570P probably damaging Het
Map4k1 C G 7: 28,693,646 (GRCm39) N412K probably benign Het
Metrnl A T 11: 121,605,564 (GRCm39) I118F possibly damaging Het
Mmp12 T A 9: 7,350,106 (GRCm39) D202E probably damaging Het
Mpp2 A T 11: 101,955,269 (GRCm39) S119T probably benign Het
Ncoa6 T C 2: 155,248,688 (GRCm39) T1539A probably benign Het
Nlrc5 A G 8: 95,206,154 (GRCm39) T715A possibly damaging Het
Nsd1 T A 13: 55,454,792 (GRCm39) N1963K probably damaging Het
Nsd3 T C 8: 26,149,834 (GRCm39) Y340H probably damaging Het
Nwd1 T A 8: 73,419,745 (GRCm39) S977T probably damaging Het
Or5d39 T A 2: 87,979,961 (GRCm39) Y134F probably damaging Het
Or7d10 G T 9: 19,832,337 (GRCm39) M277I probably benign Het
Pcdh8 T C 14: 80,008,197 (GRCm39) E122G probably damaging Het
Pcmtd2 A C 2: 181,496,991 (GRCm39) T323P probably benign Het
Pign C A 1: 105,519,447 (GRCm39) G492C probably damaging Het
Plppr3 A G 10: 79,702,337 (GRCm39) V245A possibly damaging Het
Prl7a2 C T 13: 27,844,983 (GRCm39) W134* probably null Het
Prom1 A T 5: 44,164,389 (GRCm39) N722K probably benign Het
Rasal2 A T 1: 156,988,860 (GRCm39) N663K probably damaging Het
Rgl1 G T 1: 152,428,172 (GRCm39) H315Q probably benign Het
Smpdl3a C A 10: 57,677,097 (GRCm39) A65E probably damaging Het
Spdye4b G A 5: 143,188,142 (GRCm39) D212N probably damaging Het
Tafa3 T A 3: 104,679,505 (GRCm39) K126N probably damaging Het
Tanc1 G T 2: 59,529,691 (GRCm39) probably null Het
Trio A G 15: 27,856,250 (GRCm39) V706A probably benign Het
Tshz1 T A 18: 84,033,805 (GRCm39) Q201L probably damaging Het
Ubqln1 C T 13: 58,331,131 (GRCm39) M365I probably benign Het
Usp42 A T 5: 143,705,331 (GRCm39) Y383N probably damaging Het
Vmn1r189 A G 13: 22,286,552 (GRCm39) I95T probably damaging Het
Vmn2r49 A T 7: 9,710,274 (GRCm39) S819R 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
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'- TGCTCACTTAAACTCGGAGG -3'
(R):5'- GGGGCCATATACAGGTGTATC -3'

Sequencing Primer
(F):5'- CTTAAACTCGGAGGGGCGG -3'
(R):5'- AAGCTGAGAGGTTCTTCAGCC -3'
Posted On 2016-12-15