Incidental Mutation 'R8723:Anpep'
ID 662225
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 068615-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8723 (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 79488686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 414 (S414P)
Ref Sequence ENSEMBL: ENSMUSP00000035943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502] [ENSMUST00000206235]
AlphaFold P97449
Predicted Effect probably damaging
Transcript: ENSMUST00000049004
AA Change: S414P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: S414P

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: S414P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: S414P

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 probably benign
Transcript: ENSMUST00000206235
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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
Abca12 A T 1: 71,360,897 (GRCm39) H465Q probably benign Het
Adam29 T C 8: 56,324,513 (GRCm39) H647R probably damaging Het
Adamtsl4 C T 3: 95,584,426 (GRCm39) R990Q possibly damaging Het
Adgrg7 T G 16: 56,582,282 (GRCm39) R285S probably benign Het
Alkbh1 A G 12: 87,485,278 (GRCm39) V115A probably benign Het
Ankrd50 A C 3: 38,511,453 (GRCm39) F305V probably damaging Het
Anxa3 A G 5: 96,986,206 (GRCm39) I282V probably benign Het
Aoah T G 13: 21,184,180 (GRCm39) Y415D possibly damaging Het
Cacna1b A G 2: 24,548,510 (GRCm39) V1188A probably damaging Het
Cnot1 A G 8: 96,462,907 (GRCm39) I1651T probably benign Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Ctnnd1 G A 2: 84,450,384 (GRCm39) P279S probably benign Het
Dnah10 A T 5: 124,891,685 (GRCm39) E3298V probably damaging Het
Ear14 C T 14: 51,441,513 (GRCm39) T123I possibly damaging Het
Elf3 A G 1: 135,185,385 (GRCm39) L43P possibly damaging Het
Exoc3l4 T A 12: 111,397,092 (GRCm39) probably benign Het
Figla A G 6: 85,997,724 (GRCm39) T151A probably benign Het
Fsd1l A G 4: 53,647,001 (GRCm39) E56G unknown Het
Gm49359 A T 13: 62,602,410 (GRCm39) H263Q probably damaging Het
Gprc6a A T 10: 51,491,518 (GRCm39) C744S probably damaging Het
Grhl1 G A 12: 24,662,244 (GRCm39) probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Itih3 T A 14: 30,630,761 (GRCm39) Q850L probably damaging Het
Kcnq5 A G 1: 21,575,591 (GRCm39) V285A probably damaging Het
Klc4 T G 17: 46,951,626 (GRCm39) E165A probably benign Het
Lrp2 T C 2: 69,316,648 (GRCm39) Y2111C probably damaging Het
Lyst A G 13: 13,887,342 (GRCm39) E3057G possibly damaging Het
Macf1 G A 4: 123,348,910 (GRCm39) Q4006* probably null Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Ms4a20 A G 19: 11,083,055 (GRCm39) Y122H probably damaging Het
Myh14 A G 7: 44,272,407 (GRCm39) F1466S probably damaging Het
Nrip1 T C 16: 76,089,553 (GRCm39) D668G probably damaging Het
Or5w17 T C 2: 87,583,501 (GRCm39) T279A possibly damaging Het
Or8k3 A T 2: 86,058,786 (GRCm39) H176Q probably damaging Het
P2rx1 C A 11: 72,899,756 (GRCm39) N120K probably benign Het
Pif1 T A 9: 65,501,673 (GRCm39) M569K probably damaging Het
Prkd2 G A 7: 16,591,702 (GRCm39) V578I possibly damaging Het
Rhobtb1 A G 10: 69,106,101 (GRCm39) Y284C probably damaging Het
Rps6kb1 T C 11: 86,410,757 (GRCm39) T164A possibly damaging Het
Rxfp1 T C 3: 79,557,802 (GRCm39) T559A probably benign Het
Sag G A 1: 87,751,175 (GRCm39) probably null Het
Smoc1 G A 12: 81,182,586 (GRCm39) V138I possibly damaging Het
Spag5 T A 11: 78,212,215 (GRCm39) I1081N probably damaging Het
Stk25 A G 1: 93,553,666 (GRCm39) I203T probably damaging Het
Strip2 T A 6: 29,941,863 (GRCm39) V611E probably damaging Het
Sulf1 A T 1: 12,856,911 (GRCm39) D54V probably damaging Het
Tacr2 A G 10: 62,094,107 (GRCm39) D188G probably damaging Het
Tmem237 A T 1: 59,145,731 (GRCm39) Y358N probably damaging Het
Trim27 A C 13: 21,374,807 (GRCm39) probably benign Het
Tsen34 A G 7: 3,698,149 (GRCm39) E139G probably benign Het
Ttc39a T A 4: 109,300,700 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,671,899 (GRCm39) I781N probably damaging Het
Uqcc1 C T 2: 155,729,100 (GRCm39) W21* probably null Het
Vmn2r117 A T 17: 23,696,343 (GRCm39) W355R probably damaging Het
Vmn2r89 T C 14: 51,693,910 (GRCm39) V420A probably benign Het
Zdhhc21 A T 4: 82,762,439 (GRCm39) I52K 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
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
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'- ACACATCATTCAGTACCATGAGG -3'
(R):5'- CTCCATTAGCAACAAGGAGCG -3'

Sequencing Primer
(F):5'- AGGTCTTTCTGTGGAGTCCCC -3'
(R):5'- TCACGAGCTGGCCCATCAG -3'
Posted On 2021-03-08