Incidental Mutation 'R7912:Anpep'
ID 610591
Institutional Source Beutler Lab
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 # R7912 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79471551-79497958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79488174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 496 (K496R)
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: K496R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: K496R

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: K496R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: K496R

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
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,120,451 (GRCm39) T403A probably benign Het
Aco1 T C 4: 40,184,983 (GRCm39) L551S probably damaging Het
Acvr1 C T 2: 58,364,230 (GRCm39) V200I probably damaging Het
Adam26b T A 8: 43,973,245 (GRCm39) T586S probably benign Het
Ahctf1 T C 1: 179,580,656 (GRCm39) R1849G probably benign Het
Alox5 T A 6: 116,389,497 (GRCm39) D590V probably benign Het
Anapc5 A G 5: 122,931,498 (GRCm39) probably null Het
Anln T C 9: 22,269,965 (GRCm39) E743G possibly damaging Het
Aox3 T A 1: 58,181,855 (GRCm39) S281T probably benign Het
Arhgef11 C A 3: 87,640,529 (GRCm39) P1258T probably damaging Het
Atp2c2 A T 8: 120,456,917 (GRCm39) D173V possibly damaging Het
Aurka T G 2: 172,210,949 (GRCm39) D22A probably benign Het
B3gat1 A T 9: 26,666,882 (GRCm39) D51V probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTTCTGTGGTCAC TGGTTCTGTGGTCACGGGTTCTGTGGTCAC 3: 95,795,483 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,466 (GRCm39) probably benign Het
BC028528 TTC TTCGGTGGTCACTGGCTC 3: 95,795,456 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT 3: 95,795,454 (GRCm39) probably benign Het
BC028528 CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA 3: 95,795,452 (GRCm39) probably benign Het
BC028528 CACTG CACTGATTCTGTGGTGACTG 3: 95,795,450 (GRCm39) probably benign Het
Bcas3 G A 11: 85,261,954 (GRCm39) G96S probably damaging Het
Bltp1 C T 3: 37,061,218 (GRCm39) A3309V probably damaging Het
C2cd4d T A 3: 94,270,860 (GRCm39) V42D probably damaging Het
Ccdc127 T C 13: 74,505,151 (GRCm39) L233P probably damaging Het
Cdc42bpa A G 1: 179,921,578 (GRCm39) K573E probably damaging Het
Cend1 T C 7: 141,007,544 (GRCm39) D92G probably damaging Het
Crb1 T C 1: 139,170,909 (GRCm39) D827G probably damaging Het
Cyld G T 8: 89,461,525 (GRCm39) C654F probably damaging Het
Fastkd5 C T 2: 130,458,557 (GRCm39) G11D probably damaging Het
Foxj3 A T 4: 119,477,252 (GRCm39) N354I possibly damaging Het
Gimap8 G T 6: 48,627,999 (GRCm39) C252F probably benign Het
Glra1 T C 11: 55,411,821 (GRCm39) Y329C probably damaging Het
Gm10330 G A 12: 23,829,980 (GRCm39) P67L probably benign Het
Gpm6a T C 8: 55,508,469 (GRCm39) I226T possibly damaging Het
Gstt2 A G 10: 75,668,418 (GRCm39) F121S probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,310,311 (GRCm39) F3302L probably benign Het
Hormad2 T C 11: 4,358,841 (GRCm39) T189A probably damaging Het
Hps5 A T 7: 46,418,826 (GRCm39) S815T probably benign Het
Hydin G T 8: 111,282,239 (GRCm39) R3113L possibly damaging Het
Inava A G 1: 136,155,279 (GRCm39) S109P probably benign Het
Inpp5f T A 7: 128,294,037 (GRCm39) C698S probably benign Het
Irs1 T G 1: 82,267,605 (GRCm39) M204L probably benign Het
Itfg1 T C 8: 86,490,909 (GRCm39) D340G probably damaging Het
Itm2c T A 1: 85,833,032 (GRCm39) I122N probably damaging Het
Lamp3 T A 16: 19,474,247 (GRCm39) T376S probably damaging Het
Lrba T A 3: 86,622,872 (GRCm39) I2418N probably damaging Het
Lrcol1 T A 5: 110,502,715 (GRCm39) V161D probably damaging Het
Lrp2 T A 2: 69,259,016 (GRCm39) Q4558L probably benign Het
Lrrfip2 A T 9: 111,034,836 (GRCm39) Q175L probably damaging Het
Mib1 T G 18: 10,778,187 (GRCm39) S572R probably damaging Het
Mis18bp1 A T 12: 65,199,532 (GRCm39) D456E possibly damaging Het
Mlh1 T A 9: 111,090,581 (GRCm39) T116S possibly damaging Het
Mpp4 T C 1: 59,160,521 (GRCm39) N594S probably damaging Het
Nbas A G 12: 13,455,458 (GRCm39) E1224G possibly damaging Het
Neb T C 2: 52,110,997 (GRCm39) D163G possibly damaging Het
Nectin4 T C 1: 171,207,941 (GRCm39) V111A possibly damaging Het
Nfatc2ip G A 7: 125,989,617 (GRCm39) R256* probably null Het
Nlgn2 G A 11: 69,716,760 (GRCm39) R594C probably damaging Het
Nufip1 A G 14: 76,352,442 (GRCm39) S198G possibly damaging Het
Or2n1 T C 17: 38,486,158 (GRCm39) F61S probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or8b49 T C 9: 38,506,446 (GRCm39) F310L probably benign Het
Or8s8 C T 15: 98,354,574 (GRCm39) H128Y probably benign Het
Pcdhga8 G A 18: 37,859,896 (GRCm39) M317I probably benign Het
Phactr1 A T 13: 42,863,239 (GRCm39) I55L probably benign Het
Prl3c1 G A 13: 27,383,367 (GRCm39) R31Q probably benign Het
Prss55 A T 14: 64,319,180 (GRCm39) F59Y possibly damaging Het
Ptprb T C 10: 116,158,392 (GRCm39) W488R probably damaging Het
Qrich2 GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC 11: 116,346,608 (GRCm39) probably benign Het
Ros1 G T 10: 52,044,791 (GRCm39) T172K probably damaging Het
Rtel1 C T 2: 180,997,869 (GRCm39) R1206W possibly damaging Het
Slf2 A T 19: 44,930,682 (GRCm39) K586N probably damaging Het
Smc2 T A 4: 52,450,854 (GRCm39) M224K probably benign Het
Spata31d1e A T 13: 59,890,329 (GRCm39) I497K probably damaging Het
Spinkl T C 18: 44,299,716 (GRCm39) Y83C probably damaging Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
St13 T C 15: 81,283,719 (GRCm39) E26G possibly damaging Het
Teddm3 T A 16: 20,971,699 (GRCm39) Q290L probably benign Het
Tfec C A 6: 16,840,467 (GRCm39) probably null Het
Trank1 C A 9: 111,220,596 (GRCm39) D2444E probably benign Het
Ttc17 T A 2: 94,209,166 (GRCm39) N96I probably damaging Het
Ttn T C 2: 76,560,130 (GRCm39) T29424A possibly damaging Het
Tut7 C A 13: 59,946,819 (GRCm39) Q1003H probably damaging Het
Vmn1r68 G A 7: 10,261,237 (GRCm39) T287I probably benign Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vmn2r92 A T 17: 18,404,970 (GRCm39) T705S possibly damaging Het
Vps13d T C 4: 144,899,697 (GRCm39) D200G Het
Wdr48 G A 9: 119,733,405 (GRCm39) C84Y probably damaging Het
Zscan25 T A 5: 145,227,321 (GRCm39) H328Q 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
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'- CCACAGGTCCAGATAAACGGTG -3'
(R):5'- TTGACAGCATCACCTACAGC -3'

Sequencing Primer
(F):5'- TCCAGATAAACGGTGTTCGAGTACTG -3'
(R):5'- CCTACAGCAAGGTGAAGCC -3'
Posted On 2019-12-20