Incidental Mutation 'R7683:Anpep'
ID 592874
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 045749-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79488946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 381 (V381L)
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: V381L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: V381L

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: V381L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: V381L

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: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A G 13: 59,660,312 (GRCm39) C305R probably damaging Het
Ap5s1 T C 2: 131,054,627 (GRCm39) L146P probably damaging Het
Arhgef11 A G 3: 87,629,690 (GRCm39) I599V probably damaging Het
Arpc2 T C 1: 74,302,973 (GRCm39) Y250H probably damaging Het
Baz1b T A 5: 135,246,582 (GRCm39) M677K probably damaging Het
Begain C T 12: 108,999,413 (GRCm39) A453T unknown Het
C1ql4 T C 15: 98,985,092 (GRCm39) D173G probably benign Het
Card11 T G 5: 140,881,781 (GRCm39) N461T probably benign Het
Ccdc9 T C 7: 16,018,287 (GRCm39) D7G probably damaging Het
Ces2a T C 8: 105,463,744 (GRCm39) V152A probably benign Het
Chl1 G A 6: 103,668,613 (GRCm39) A449T possibly damaging Het
Col11a1 G T 3: 113,907,385 (GRCm39) G638W unknown Het
Cse1l A T 2: 166,764,708 (GRCm39) T171S probably benign Het
D2hgdh T A 1: 93,766,687 (GRCm39) probably null Het
Dlg4 T C 11: 69,930,680 (GRCm39) Y432H possibly damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
F11 T A 8: 45,702,545 (GRCm39) Q251L probably damaging Het
Gtf2f1 T A 17: 57,312,458 (GRCm39) E195V possibly damaging Het
Hap1 A T 11: 100,242,374 (GRCm39) L376Q probably damaging Het
Hars2 T A 18: 36,921,289 (GRCm39) I234N probably damaging Het
Hcfc2 T C 10: 82,535,063 (GRCm39) V29A probably benign Het
Hp C T 8: 110,305,731 (GRCm39) probably benign Het
Hrh1 T C 6: 114,456,748 (GRCm39) S10P probably benign Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm3a A G 6: 71,576,438 (GRCm39) V792A probably benign Het
Kif13b G A 14: 64,994,956 (GRCm39) V903I probably benign Het
Lars2 G T 9: 123,206,895 (GRCm39) probably null Het
Med7 A G 11: 46,331,687 (GRCm39) D94G possibly damaging Het
Mier3 A G 13: 111,841,846 (GRCm39) T136A probably benign Het
Nin T C 12: 70,124,956 (GRCm39) E122G Het
Or5h18 G T 16: 58,847,469 (GRCm39) T267K probably benign Het
Or6k14 A G 1: 173,927,042 (GRCm39) Q6R probably benign Het
Oxsr1 T C 9: 119,070,821 (GRCm39) I489V probably benign Het
Pdcd6ip A T 9: 113,516,763 (GRCm39) L216Q probably damaging Het
Ppp4r4 T A 12: 103,553,364 (GRCm39) C379* probably null Het
Pramel24 A T 4: 143,453,284 (GRCm39) K131* probably null Het
Ptpn13 T A 5: 103,713,018 (GRCm39) C1714S probably benign Het
Pum2 G A 12: 8,778,922 (GRCm39) R498Q possibly damaging Het
Sema3d T A 5: 12,623,823 (GRCm39) Y577* probably null Het
Slc29a3 G A 10: 60,552,145 (GRCm39) P300S not run Het
Slc5a4b A G 10: 75,899,906 (GRCm39) V444A probably damaging Het
Smad9 A G 3: 54,696,685 (GRCm39) E250G probably damaging Het
Srsf7 A G 17: 80,514,703 (GRCm39) probably benign Het
Thsd7b A G 1: 129,523,683 (GRCm39) Y239C probably damaging Het
Triml2 C A 8: 43,638,325 (GRCm39) Q98K probably damaging Het
Txndc11 A T 16: 10,902,099 (GRCm39) L705Q probably damaging Het
Vmn1r22 A G 6: 57,877,404 (GRCm39) M191T probably damaging Het
Vmn2r89 A T 14: 51,692,651 (GRCm39) K151N probably benign Het
Vwa5a A G 9: 38,646,125 (GRCm39) I498V probably damaging Het
Zfp459 T C 13: 67,556,615 (GRCm39) H156R probably damaging Het
Zscan18 T A 7: 12,503,532 (GRCm39) K676* probably null 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
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'- TCGTTCAGCCACAGATCATTCC -3'
(R):5'- AGGATGCCCATTCAGACACC -3'

Sequencing Primer
(F):5'- AGACGAGCCGTTGAGTCTCAC -3'
(R):5'- CTCCCATTGACACCGGGATC -3'
Posted On 2019-11-12