Incidental Mutation 'R9200:Anpep'
ID 698170
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 068957-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9200 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79490870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 241 (N241D)
Ref Sequence ENSEMBL: ENSMUSP00000035943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502] [ENSMUST00000206235]
AlphaFold P97449
Predicted Effect probably benign
Transcript: ENSMUST00000049004
AA Change: N241D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: N241D

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: N241D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: N241D

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (71/72)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 C A 7: 119,179,839 (GRCm39) Y352* probably null Het
Adh7 C T 3: 137,927,567 (GRCm39) R38C probably benign Het
Ankrd2 A T 19: 42,028,871 (GRCm39) T145S Het
Apaf1 G A 10: 90,845,102 (GRCm39) L990F probably benign Het
Arsi A G 18: 61,049,836 (GRCm39) T240A possibly damaging Het
Ascc3 A G 10: 50,521,787 (GRCm39) E434G possibly damaging Het
Atp2c2 A T 8: 120,474,999 (GRCm39) K535* probably null Het
B3galt4 A G 17: 34,170,384 (GRCm39) probably benign Het
Brwd1 C G 16: 95,839,154 (GRCm39) C839S probably benign Het
Cars1 C T 7: 143,129,654 (GRCm39) probably null Het
Catsperd T A 17: 56,935,229 (GRCm39) V14D unknown Het
Ccdc150 A C 1: 54,299,197 (GRCm39) T58P probably damaging Het
Cdhr17 T C 5: 17,006,659 (GRCm39) probably null Het
Cdon A G 9: 35,414,617 (GRCm39) D1164G probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cic A C 7: 24,971,940 (GRCm39) D557A probably damaging Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Dach1 G T 14: 98,065,743 (GRCm39) R695S probably damaging Het
Ddc T C 11: 11,765,388 (GRCm39) N428S possibly damaging Het
Dnah6 G A 6: 73,004,497 (GRCm39) T3822I probably benign Het
Dnmt1 T A 9: 20,819,896 (GRCm39) M1535L probably benign Het
Edc4 T C 8: 106,617,051 (GRCm39) probably null Het
Emilin2 A G 17: 71,581,229 (GRCm39) I499T possibly damaging Het
Etl4 A G 2: 20,786,702 (GRCm39) D766G probably damaging Het
Fes T C 7: 80,032,140 (GRCm39) Q414R probably benign Het
Fhod1 A G 8: 106,058,072 (GRCm39) V844A probably benign Het
Fshr A T 17: 89,354,103 (GRCm39) V85E probably benign Het
Gc T C 5: 89,593,236 (GRCm39) N61S probably benign Het
Hapstr1 T C 16: 8,673,898 (GRCm39) L275P possibly damaging Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itga1 A T 13: 115,104,997 (GRCm39) I1059N possibly damaging Het
Itpr3 T A 17: 27,326,636 (GRCm39) V1426E probably damaging Het
Jag1 T A 2: 136,929,044 (GRCm39) Y804F probably benign Het
Lama3 A G 18: 12,605,297 (GRCm39) T1084A probably benign Het
Mdn1 A G 4: 32,760,791 (GRCm39) D4952G probably benign Het
Mmrn1 A G 6: 60,953,860 (GRCm39) T714A probably damaging Het
Nab1 T A 1: 52,529,525 (GRCm39) H124L possibly damaging Het
Nacc2 A G 2: 25,980,118 (GRCm39) F106S probably damaging Het
Nbeal1 T C 1: 60,320,425 (GRCm39) I2006T probably damaging Het
Nkpd1 C A 7: 19,257,683 (GRCm39) H487Q probably benign Het
Nop2 G A 6: 125,117,843 (GRCm39) probably null Het
Or10ag54 T A 2: 87,100,055 (GRCm39) M310K probably benign Het
Or5b124 A G 19: 13,610,595 (GRCm39) N40S probably damaging Het
Otud6b A T 4: 14,811,712 (GRCm39) Y310* probably null Het
Phyh A T 2: 4,932,247 (GRCm39) Y111F probably benign Het
Pon3 A G 6: 5,240,863 (GRCm39) L106P probably benign Het
Ppp6r3 T C 19: 3,519,748 (GRCm39) D615G probably damaging Het
Pramel23 G A 4: 143,423,856 (GRCm39) P311L possibly damaging Het
Prdm10 G A 9: 31,268,438 (GRCm39) V796I probably damaging Het
Prkdc G T 16: 15,523,153 (GRCm39) V1192F probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rab39 T C 9: 53,597,665 (GRCm39) N200S probably benign Het
Rcc2 A G 4: 140,445,664 (GRCm39) I441V probably benign Het
Rxra G A 2: 27,627,496 (GRCm39) V72I possibly damaging Het
Ryr1 T G 7: 28,794,524 (GRCm39) Q1252P probably benign Het
Sectm1a T C 11: 120,960,473 (GRCm39) Y114C probably damaging Het
Smim1 T C 4: 154,108,276 (GRCm39) probably null Het
Smpd2 C T 10: 41,363,561 (GRCm39) D301N probably benign Het
Smyd3 T C 1: 179,232,963 (GRCm39) D139G probably benign Het
Sox13 C T 1: 133,313,743 (GRCm39) C399Y probably damaging Het
Tars3 A G 7: 65,302,013 (GRCm39) E179G probably benign Het
Tas2r138 A G 6: 40,589,494 (GRCm39) F251L probably damaging Het
Tesk1 A G 4: 43,447,307 (GRCm39) E565G probably damaging Het
Tm2d1 A T 4: 98,246,200 (GRCm39) F201I possibly damaging Het
Tom1l2 C A 11: 60,120,942 (GRCm39) D501Y probably benign Het
Trim39 G T 17: 36,579,667 (GRCm39) T96K probably benign Het
Ubash3a A G 17: 31,436,971 (GRCm39) H196R probably damaging Het
Unc13b A G 4: 43,257,352 (GRCm39) E1206G possibly damaging Het
Usp17lc A T 7: 103,068,105 (GRCm39) T467S probably benign Het
Vmn1r128 T C 7: 21,083,316 (GRCm39) S7P possibly damaging Het
Vmn1r185 T A 7: 26,311,073 (GRCm39) H144L possibly damaging Het
Wfdc6b A T 2: 164,455,708 (GRCm39) R12S possibly damaging Het
Zmynd8 A T 2: 165,682,005 (GRCm39) D175E 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
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
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'- GCAGGTATGTGGACATCTTAGG -3'
(R):5'- GCAGCTTGTTGGTCAGGATC -3'

Sequencing Primer
(F):5'- CATCTTAGGGGTGGAGTGGAACTC -3'
(R):5'- TCAGGATCCTGAGGCTGTG -3'
Posted On 2022-02-07