Incidental Mutation 'R7935:Anpep'
ID 648681
Institutional Source Beutler Lab
Gene Symbol Anpep
Ensembl Gene ENSMUSG00000039062
Gene Name alanyl aminopeptidase, membrane
Synonyms aminopeptidase N, Apn, Cd13
MMRRC Submission 045981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7935 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79476709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 756 (I756T)
Ref Sequence ENSEMBL: ENSMUSP00000035943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502]
AlphaFold P97449
Predicted Effect possibly damaging
Transcript: ENSMUST00000049004
AA Change: I756T

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: I756T

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 possibly damaging
Transcript: ENSMUST00000107392
AA Change: I756T

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: I756T

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 possibly damaging
Transcript: ENSMUST00000205502
AA Change: I10T

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,308,732 (GRCm39) V124A probably benign Het
Abca4 A G 3: 121,904,186 (GRCm39) M746V possibly damaging Het
Aldh18a1 G T 19: 40,562,226 (GRCm39) S266* probably null Het
Aldh1b1 C A 4: 45,802,968 (GRCm39) H169N probably benign Het
Asb16 A T 11: 102,168,739 (GRCm39) E405V probably benign Het
B4galnt1 T A 10: 127,007,490 (GRCm39) F464I probably damaging Het
Bpifb5 A G 2: 154,070,975 (GRCm39) I225V probably benign Het
Brox T C 1: 183,062,484 (GRCm39) E290G probably damaging Het
Cacna1s T A 1: 136,020,333 (GRCm39) V790D possibly damaging Het
Cacng6 G T 7: 3,473,384 (GRCm39) K69N possibly damaging Het
Catsperg1 A G 7: 28,895,344 (GRCm39) I503T possibly damaging Het
Cdcp3 A G 7: 130,852,205 (GRCm39) N814D probably damaging Het
Celsr3 A C 9: 108,706,840 (GRCm39) M1108L probably benign Het
Chd2 T C 7: 73,149,373 (GRCm39) N449S probably benign Het
Cpne6 T C 14: 55,750,066 (GRCm39) C66R possibly damaging Het
Ctnna2 T C 6: 76,919,270 (GRCm39) E656G probably damaging Het
Dnah17 A T 11: 118,018,048 (GRCm39) M149K probably benign Het
Dpp8 A T 9: 64,944,262 (GRCm39) M10L possibly damaging Het
Dst T C 1: 34,329,486 (GRCm39) L4838P probably damaging Het
Eif4g3 T A 4: 137,824,082 (GRCm39) I55N probably damaging Het
Gm10750 A G 2: 148,858,017 (GRCm39) L78P unknown Het
Gulo T G 14: 66,237,288 (GRCm39) K200Q probably benign Het
Jmjd8 T A 17: 26,048,071 (GRCm39) L56Q probably benign Het
Kansl1 G T 11: 104,315,112 (GRCm39) Q309K probably damaging Het
Kcns3 A C 12: 11,141,718 (GRCm39) L327R probably damaging Het
Mapk10 A G 5: 103,139,792 (GRCm39) I153T possibly damaging Het
Muc5b G T 7: 141,400,569 (GRCm39) M513I unknown Het
Nbea A G 3: 55,966,086 (GRCm39) F459L probably damaging Het
Nrcam G A 12: 44,631,644 (GRCm39) V1066I possibly damaging Het
Numa1 A G 7: 101,651,538 (GRCm39) K178E probably damaging Het
Or4b1 C T 2: 89,979,928 (GRCm39) V141M probably benign Het
Or5au1 T C 14: 52,272,645 (GRCm39) K308E probably benign Het
Or5d14 G A 2: 87,880,290 (GRCm39) T226M probably damaging Het
Pabpc4 C T 4: 123,191,837 (GRCm39) A649V probably benign Het
Parp12 C A 6: 39,079,612 (GRCm39) K299N possibly damaging Het
Pcdhga7 A G 18: 37,849,562 (GRCm39) D523G possibly damaging Het
Polr2a T C 11: 69,638,330 (GRCm39) T79A probably benign Het
Ppp1r7 T C 1: 93,273,904 (GRCm39) S27P probably damaging Het
Pramel42 G T 5: 94,685,440 (GRCm39) D367Y probably damaging Het
Prol1 T G 5: 88,475,874 (GRCm39) L88R probably damaging Het
Ptpn6 T C 6: 124,709,425 (GRCm39) Q57R possibly damaging Het
Rdh16 A G 10: 127,637,334 (GRCm39) I90V probably benign Het
Rock2 T A 12: 16,998,558 (GRCm39) C275S probably damaging Het
Rp1l1 G T 14: 64,268,674 (GRCm39) R1420L probably damaging Het
Sav1 A G 12: 70,033,481 (GRCm39) Y21H probably damaging Het
Sec24a T C 11: 51,612,749 (GRCm39) N536S probably benign Het
Serpina9 A C 12: 103,964,421 (GRCm39) F339V probably damaging Het
Slc6a13 T G 6: 121,311,450 (GRCm39) L369V possibly damaging Het
Smarcd3 A T 5: 24,801,024 (GRCm39) F128I probably damaging Het
Smok2a A T 17: 13,444,599 (GRCm39) I59F probably damaging Het
Spaca9 A G 2: 28,583,634 (GRCm39) probably null Het
Ssx2ip A T 3: 146,124,928 (GRCm39) E84D probably benign Het
Syt12 A T 19: 4,497,830 (GRCm39) V384E probably benign Het
Ticrr T A 7: 79,331,584 (GRCm39) L727Q probably damaging Het
Tmem170b A G 13: 41,781,463 (GRCm39) Y36C probably damaging Het
Tpd52l1 T C 10: 31,214,201 (GRCm39) T161A probably damaging Het
Zan T A 5: 137,461,841 (GRCm39) T1113S unknown Het
Zfp512b T C 2: 181,231,689 (GRCm39) T164A probably damaging Het
Zfp521 G A 18: 13,977,549 (GRCm39) P955S probably damaging Het
Zfp770 C T 2: 114,027,305 (GRCm39) V255I probably benign Het
Zfp942 A T 17: 22,148,208 (GRCm39) C140* 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
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
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'- CACCGAAAGCAATGGCATTG -3'
(R):5'- CAAAGCTGCCTTGGGAAAC -3'

Sequencing Primer
(F):5'- TGGCATTGCAGTAGACAGTAGACC -3'
(R):5'- CAAGAAAGTGCAGGCCAATG -3'
Posted On 2020-09-15