Incidental Mutation 'R6594:Anpep'
ID 526389
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 044718-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6594 (G1)
Quality Score 187.009
Status Not validated
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 79491109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502] [ENSMUST00000206235]
AlphaFold P97449
Predicted Effect probably null
Transcript: ENSMUST00000049004
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062

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 null
Transcript: ENSMUST00000107392
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (52/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,113,432 (GRCm39) N296S probably benign Het
Abca13 A T 11: 9,244,632 (GRCm39) N2165I possibly damaging Het
Bcl2a1b A C 9: 89,089,647 (GRCm39) I145L probably benign Het
Ccar2 G A 14: 70,377,925 (GRCm39) L687F probably damaging Het
Cd69 A G 6: 129,246,537 (GRCm39) probably null Het
Chchd10 A C 10: 75,772,158 (GRCm39) Q43P probably damaging Het
Ddx55 A G 5: 124,704,988 (GRCm39) E415G probably damaging Het
Defa41 A G 8: 21,692,471 (GRCm39) probably null Het
Dhx40 A T 11: 86,676,599 (GRCm39) C172S possibly damaging Het
Epha1 G A 6: 42,341,625 (GRCm39) T475I probably benign Het
Eri1 T C 8: 35,949,687 (GRCm39) T91A probably damaging Het
Fscn1 C T 5: 142,955,783 (GRCm39) A158V probably benign Het
Gm11437 C T 11: 84,055,386 (GRCm39) G77R probably null Het
Golm1 T C 13: 59,812,041 (GRCm39) N94D possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Haus4 C A 14: 54,781,268 (GRCm39) E269D possibly damaging Het
Hyou1 T C 9: 44,300,619 (GRCm39) M896T probably benign Het
Itpr2 T A 6: 146,091,978 (GRCm39) M2174L possibly damaging Het
Kars1 T C 8: 112,720,299 (GRCm39) probably benign Het
Kif1a T C 1: 92,949,035 (GRCm39) M1488V probably benign Het
Lrp2 T C 2: 69,270,267 (GRCm39) T4106A possibly damaging Het
Lrrc20 G A 10: 61,318,225 (GRCm39) V16I possibly damaging Het
Mecr T A 4: 131,582,004 (GRCm39) V162E probably damaging Het
Ms4a4a C A 19: 11,363,778 (GRCm39) A102E probably damaging Het
Mycn T C 12: 12,990,051 (GRCm39) D115G probably damaging Het
Ninj2 A T 6: 120,175,750 (GRCm39) T138S possibly damaging Het
Oasl2 G A 5: 115,044,836 (GRCm39) V121I probably benign Het
Or10s1 T C 9: 39,986,239 (GRCm39) L216P probably damaging Het
Or2r11 A T 6: 42,437,309 (GRCm39) S215T probably benign Het
Or7g19 T C 9: 18,856,127 (GRCm39) F61S probably damaging Het
Pcdha11 A C 18: 37,144,235 (GRCm39) I109L probably benign Het
Pira1 T A 7: 3,739,498 (GRCm39) K457* probably null Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Rp1l1 A T 14: 64,269,126 (GRCm39) K1571* probably null Het
Sec24d G T 3: 123,087,412 (GRCm39) G193C probably damaging Het
Sema3b A T 9: 107,476,025 (GRCm39) M732K probably benign Het
Serpinb8 T C 1: 107,525,201 (GRCm39) M1T probably null Het
Sgip1 T A 4: 102,819,676 (GRCm39) V594E probably damaging Het
Slc3a2 T C 19: 8,685,410 (GRCm39) S197G probably damaging Het
Slc44a5 T C 3: 153,964,660 (GRCm39) V520A possibly damaging Het
Surf6 G T 2: 26,792,761 (GRCm39) D13E possibly damaging Het
Tmem94 G A 11: 115,689,112 (GRCm39) R1341H probably damaging Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Traf7 A G 17: 24,728,813 (GRCm39) V591A possibly damaging Het
Trim72 T C 7: 127,609,220 (GRCm39) S341P probably damaging Het
Trps1 A G 15: 50,694,351 (GRCm39) V398A probably damaging Het
Ube2m C A 7: 12,771,617 (GRCm39) E14* probably null Het
Unc119 T A 11: 78,238,046 (GRCm39) Y10N probably damaging Het
Ush2a T C 1: 188,642,995 (GRCm39) L4119P possibly damaging Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r4 A G 3: 64,296,731 (GRCm39) S685P probably damaging Het
Vmn2r58 T C 7: 41,486,535 (GRCm39) M787V possibly damaging Het
Vmn2r72 T C 7: 85,398,892 (GRCm39) H487R probably benign Het
Xcr1 A G 9: 123,685,309 (GRCm39) I151T probably benign Het
Zfp658 T C 7: 43,216,701 (GRCm39) S24P possibly damaging Het
Zfyve16 T C 13: 92,650,326 (GRCm39) D886G 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
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
Posted On 2018-06-25