Incidental Mutation 'IGL00089:Anpep'
ID 1480
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00089
Quality Score
Status
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79491734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 89 (L89Q)
Ref Sequence ENSEMBL: ENSMUSP00000103015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502] [ENSMUST00000206235]
AlphaFold P97449
Predicted Effect probably damaging
Transcript: ENSMUST00000049004
AA Change: L89Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: L89Q

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: L89Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: L89Q

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
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,645,854 (GRCm39) S580P probably damaging Het
Abca12 T A 1: 71,342,700 (GRCm39) I927F possibly damaging Het
Abca8a A G 11: 109,941,765 (GRCm39) V1168A possibly damaging Het
Abcc1 T A 16: 14,278,847 (GRCm39) N1052K probably benign Het
Adamts13 C A 2: 26,895,373 (GRCm39) Q1155K probably benign Het
Adgre4 A T 17: 56,098,915 (GRCm39) probably benign Het
Ahsa2 T C 11: 23,446,837 (GRCm39) E42G probably damaging Het
Ankk1 T G 9: 49,333,200 (GRCm39) I95L probably benign Het
Arl5a T C 2: 52,306,083 (GRCm39) N83S probably benign Het
Atp11b A G 3: 35,863,525 (GRCm39) probably null Het
Atp6v0a2 T C 5: 124,798,841 (GRCm39) F849L probably benign Het
BC106179 A G 16: 23,043,022 (GRCm39) probably benign Het
Bcl2a1c T C 9: 114,159,608 (GRCm39) *129Q probably null Het
C2cd5 T C 6: 142,963,671 (GRCm39) I888V probably null Het
Calb2 A T 8: 110,872,303 (GRCm39) L227Q probably damaging Het
Ccp110 G T 7: 118,321,647 (GRCm39) C434F possibly damaging Het
Cd209c A T 8: 3,990,339 (GRCm39) C160S probably damaging Het
Chmp1a A G 8: 123,935,758 (GRCm39) probably null Het
Col6a6 T A 9: 105,635,390 (GRCm39) probably null Het
Cyld T A 8: 89,432,085 (GRCm39) C28S probably benign Het
Dapk1 A T 13: 60,908,854 (GRCm39) I1156F probably benign Het
Dennd1a A T 2: 38,133,454 (GRCm39) Y16* probably null Het
Dennd3 T G 15: 73,438,982 (GRCm39) S1117A probably benign Het
Dgka A T 10: 128,568,955 (GRCm39) D203E probably damaging Het
Dhx15 G T 5: 52,324,117 (GRCm39) L392I probably damaging Het
Dnah10 A G 5: 124,823,680 (GRCm39) D567G probably benign Het
Eaf1 T A 14: 31,226,483 (GRCm39) probably null Het
Efnb2 T C 8: 8,710,589 (GRCm39) D9G probably benign Het
Fcrla A T 1: 170,755,067 (GRCm39) C15S probably benign Het
Flt3 T C 5: 147,291,686 (GRCm39) N588S probably damaging Het
Garre1 A T 7: 33,945,412 (GRCm39) probably benign Het
Gm10146 A T 10: 78,229,307 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,653 (GRCm39) probably benign Het
Golm2 T C 2: 121,741,274 (GRCm39) probably benign Het
Gpr39 A C 1: 125,800,468 (GRCm39) R406S probably benign Het
H2-Aa T C 17: 34,503,504 (GRCm39) H31R probably damaging Het
Helz2 G T 2: 180,871,495 (GRCm39) R2706S probably damaging Het
Hip1r T A 5: 124,127,798 (GRCm39) probably null Het
Hnf4g A G 3: 3,713,142 (GRCm39) T239A probably benign Het
Hps5 A T 7: 46,425,362 (GRCm39) I413N probably damaging Het
Hspg2 G A 4: 137,256,131 (GRCm39) G1413R probably damaging Het
Itgax T G 7: 127,734,498 (GRCm39) M352R probably damaging Het
Katna1 T A 10: 7,638,568 (GRCm39) M433K probably damaging Het
Kcna4 T G 2: 107,126,207 (GRCm39) S314A probably damaging Het
Kif13b C T 14: 64,907,142 (GRCm39) T42I possibly damaging Het
Krt78 G A 15: 101,855,945 (GRCm39) T622I probably benign Het
Krt86 T A 15: 101,374,396 (GRCm39) M263K possibly damaging Het
Lap3 A G 5: 45,663,511 (GRCm39) probably benign Het
Lepr A T 4: 101,672,232 (GRCm39) R1085S probably benign Het
Lmcd1 A G 6: 112,306,769 (GRCm39) I314V probably benign Het
Luc7l2 T C 6: 38,585,105 (GRCm39) probably benign Het
Mcm2 T A 6: 88,870,383 (GRCm39) M117L probably benign Het
Mdh2 T C 5: 135,815,138 (GRCm39) Y133H probably damaging Het
Minar1 C T 9: 89,483,853 (GRCm39) V515I probably benign Het
Mlkl T A 8: 112,046,060 (GRCm39) R317* probably null Het
Mrps34 T C 17: 25,114,344 (GRCm39) L68P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo18a A G 11: 77,738,764 (GRCm39) E1299G probably damaging Het
Nlrp14 T C 7: 106,791,709 (GRCm39) L139P possibly damaging Het
Nudcd2 A G 11: 40,627,413 (GRCm39) D86G probably damaging Het
Or10u4 T A 10: 129,801,673 (GRCm39) R293W probably damaging Het
Or4c107 T A 2: 88,789,110 (GRCm39) I100N probably damaging Het
Or4f62 A T 2: 111,986,412 (GRCm39) M39L probably benign Het
Patj T C 4: 98,353,343 (GRCm39) F629L probably damaging Het
Rad23a A G 8: 85,562,524 (GRCm39) F280L probably damaging Het
Ralgapa1 C A 12: 55,769,558 (GRCm39) G811V probably damaging Het
St18 A G 1: 6,872,796 (GRCm39) D177G probably benign Het
Sult1c2 A C 17: 54,140,147 (GRCm39) Y159* probably null Het
Surf6 T A 2: 26,783,081 (GRCm39) probably null Het
Susd6 T G 12: 80,916,841 (GRCm39) probably benign Het
Sypl2 G A 3: 108,133,742 (GRCm39) probably benign Het
Ubr5 A T 15: 37,984,280 (GRCm39) F2289Y probably damaging Het
Vcl T C 14: 21,037,071 (GRCm39) I223T probably benign Het
Vmn1r234 C T 17: 21,449,860 (GRCm39) T258I possibly damaging Het
Vmn2r58 T A 7: 41,513,854 (GRCm39) K263M possibly damaging Het
Vmo1 A T 11: 70,404,424 (GRCm39) N192K probably damaging Het
Wrnip1 A G 13: 33,000,312 (GRCm39) N440D probably damaging Het
Zc3h4 T C 7: 16,156,159 (GRCm39) Y264H unknown Het
Zfp639 T G 3: 32,573,902 (GRCm39) probably null Het
Zfp831 T C 2: 174,488,078 (GRCm39) Y918H possibly damaging Het
Other mutations in Anpep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Anpep APN 7 79,475,484 (GRCm39) missense possibly damaging 0.64
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
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
Posted On 2011-07-12