Incidental Mutation 'R8726:Anpep'
ID 662426
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 068616-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8726 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79490641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 292 (V292I)
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: V292I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: V292I

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: V292I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: V292I

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: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (76/76)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik A G 11: 69,789,207 (GRCm39) S331P possibly damaging Het
4930433I11Rik A G 7: 40,644,226 (GRCm39) M632V probably benign Het
9930111J21Rik2 A C 11: 48,910,507 (GRCm39) V642G probably damaging Het
Abcd4 A T 12: 84,651,171 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,525,462 (GRCm39) E363G probably damaging Het
Ank3 T A 10: 69,823,084 (GRCm39) H584Q Het
Ankrd11 A T 8: 123,620,765 (GRCm39) L1029Q possibly damaging Het
Atmin G A 8: 117,681,525 (GRCm39) D175N possibly damaging Het
B4galt6 T C 18: 20,821,450 (GRCm39) I359M possibly damaging Het
Bicd2 A G 13: 49,532,905 (GRCm39) D497G probably damaging Het
Calcr C T 6: 3,707,489 (GRCm39) probably benign Het
Camkk2 G T 5: 122,882,002 (GRCm39) D418E probably benign Het
Cntn3 A T 6: 102,146,014 (GRCm39) Y942* probably null Het
Col8a1 C T 16: 57,449,138 (GRCm39) R124H probably damaging Het
Coro7 T C 16: 4,486,619 (GRCm39) T185A possibly damaging Het
Creb3 C T 4: 43,566,747 (GRCm39) P364S probably benign Het
Csf1r A T 18: 61,250,728 (GRCm39) T480S probably benign Het
Csnk1g1 T A 9: 65,909,553 (GRCm39) H223Q probably damaging Het
Ctns C T 11: 73,078,613 (GRCm39) V171M probably benign Het
Dhx15 A T 5: 52,311,568 (GRCm39) N637K probably benign Het
Eif4g1 T C 16: 20,494,232 (GRCm39) Y103H probably damaging Het
Eif4g2 C T 7: 110,676,629 (GRCm39) R295H probably damaging Het
Fat1 C T 8: 45,477,206 (GRCm39) P2084L probably benign Het
Fat4 A G 3: 39,064,647 (GRCm39) R4868G probably damaging Het
Fbxo31 A T 8: 122,282,014 (GRCm39) Y295* probably null Het
Fmn2 C A 1: 174,437,404 (GRCm39) T1125N possibly damaging Het
Foxi2 C A 7: 135,012,133 (GRCm39) P7Q probably damaging Het
Hmx1 C T 5: 35,549,100 (GRCm39) P131L probably damaging Het
Hrh2 T C 13: 54,368,171 (GRCm39) L49P probably damaging Het
Hycc2 T C 1: 58,585,285 (GRCm39) T171A possibly damaging Het
Igkv6-14 A G 6: 70,412,125 (GRCm39) V53A possibly damaging Het
Kcnb2 C A 1: 15,780,876 (GRCm39) Q583K probably benign Het
Kcns3 A G 12: 11,141,692 (GRCm39) S336P probably damaging Het
Kremen2 G T 17: 23,961,720 (GRCm39) F262L probably damaging Het
Krtap9-1 T A 11: 99,764,577 (GRCm39) C104* probably null Het
Ky A G 9: 102,405,102 (GRCm39) Y199C probably damaging Het
L1td1 T G 4: 98,622,215 (GRCm39) L259R probably damaging Het
Lrba A G 3: 86,261,062 (GRCm39) T1473A probably benign Het
Lrp6 A T 6: 134,484,624 (GRCm39) L333* probably null Het
Lrrc23 T C 6: 124,753,043 (GRCm39) N201S probably benign Het
Map4k4 C A 1: 40,043,142 (GRCm39) P666T possibly damaging Het
Matn1 T A 4: 130,679,514 (GRCm39) D389E probably damaging Het
Mdc1 G T 17: 36,158,475 (GRCm39) G285V probably benign Het
Mettl17 T C 14: 52,128,187 (GRCm39) probably null Het
Mknk1 A T 4: 115,730,506 (GRCm39) probably benign Het
Neurod1 A T 2: 79,284,430 (GRCm39) F318I possibly damaging Het
Nfya T C 17: 48,699,445 (GRCm39) T213A probably damaging Het
Nmrk1 C T 19: 18,616,902 (GRCm39) T17M probably damaging Het
Ntrk1 A C 3: 87,693,396 (GRCm39) D245E probably benign Het
Nup160 C A 2: 90,563,545 (GRCm39) H1370Q possibly damaging Het
Or11h6 A C 14: 50,880,703 (GRCm39) K316Q probably benign Het
Or5w8 T C 2: 87,688,161 (GRCm39) V214A probably benign Het
Or6x1 T A 9: 40,098,663 (GRCm39) V84E probably damaging Het
Parp4 G A 14: 56,866,556 (GRCm39) R1040H probably benign Het
Pdia4 C A 6: 47,785,200 (GRCm39) E56* probably null Het
Pdia5 A G 16: 35,269,784 (GRCm39) F175S probably damaging Het
Piezo2 C T 18: 63,242,956 (GRCm39) S621N probably benign Het
Pigw T C 11: 84,768,643 (GRCm39) T229A possibly damaging Het
Rasa3 T C 8: 13,626,381 (GRCm39) Y734C probably benign Het
Rfx7 T A 9: 72,500,505 (GRCm39) probably benign Het
Rims1 T C 1: 22,633,181 (GRCm39) D178G possibly damaging Het
Ros1 A G 10: 51,954,769 (GRCm39) V1853A possibly damaging Het
Rps7 A G 12: 28,681,714 (GRCm39) I139T probably benign Het
Sall3 T C 18: 81,029,708 (GRCm39) D15G possibly damaging Het
Scn1a A T 2: 66,133,983 (GRCm39) V137D probably benign Het
Slc23a3 G A 1: 75,106,173 (GRCm39) P349S probably benign Het
Slc35a5 C G 16: 44,964,021 (GRCm39) R404P probably damaging Het
Stard13 A T 5: 150,986,607 (GRCm39) M301K probably benign Het
Suclg2 A G 6: 95,632,489 (GRCm39) F60S probably damaging Het
Tecpr2 T A 12: 110,904,668 (GRCm39) F887L possibly damaging Het
Tekt4 G T 17: 25,691,033 (GRCm39) W113L probably damaging Het
Tep1 G A 14: 51,085,080 (GRCm39) S901F probably damaging Het
Tex11 C T X: 100,059,191 (GRCm39) V190I possibly damaging Het
Thbs1 T A 2: 117,949,957 (GRCm39) probably null Het
Tm9sf4 T A 2: 153,040,295 (GRCm39) V425D probably damaging Het
Tpo A G 12: 30,105,137 (GRCm39) L911P possibly damaging Het
Ttn T C 2: 76,729,301 (GRCm39) Q5332R unknown Het
Wdr59 A T 8: 112,223,466 (GRCm39) D169E Het
Zfp799 C A 17: 33,039,166 (GRCm39) G367C probably damaging 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
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'- AGACGTTCCTCAATTTTACACCTGAG -3'
(R):5'- TATGCTTCCCAAAGGTGAGC -3'

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