Incidental Mutation 'R8554:Aopep'
ID 660038
Institutional Source Beutler Lab
Gene Symbol Aopep
Ensembl Gene ENSMUSG00000021458
Gene Name aminopeptidase O
Synonyms 2010111I01Rik, ApO
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 63112707-63473910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63444711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 94 (Y94N)
Ref Sequence ENSEMBL: ENSMUSP00000152100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021911] [ENSMUST00000091560] [ENSMUST00000220485] [ENSMUST00000220684] [ENSMUST00000220884]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021911
AA Change: Y761N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: Y761N

DomainStartEndE-ValueType
low complexity region 143 154 N/A INTRINSIC
Pfam:Peptidase_M1 221 359 5.4e-11 PFAM
Pfam:Peptidase_M1 385 558 2.3e-15 PFAM
Pfam:Peptidase_MA_2 453 613 1.3e-12 PFAM
Leuk-A4-hydro_C 675 821 3.02e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000091560
AA Change: Y762N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: Y762N

DomainStartEndE-ValueType
low complexity region 143 154 N/A INTRINSIC
Pfam:Peptidase_M1 220 359 2.7e-11 PFAM
Pfam:Peptidase_M1 386 561 1.9e-15 PFAM
Leuk-A4-hydro_C 676 822 3.02e-37 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000124560
Gene: ENSMUSG00000021458
AA Change: Y105N

DomainStartEndE-ValueType
Leuk-A4-hydro_C 1 113 4.63e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220485
Predicted Effect probably benign
Transcript: ENSMUST00000220684
Predicted Effect
Predicted Effect possibly damaging
Transcript: ENSMUST00000220884
AA Change: Y94N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect
Predicted Effect
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for one gene trapped allele are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M probably benign Het
Other mutations in Aopep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Aopep APN 13 63,347,314 (GRCm39) splice site probably benign
IGL00329:Aopep APN 13 63,338,977 (GRCm39) missense probably damaging 1.00
IGL00336:Aopep APN 13 63,163,237 (GRCm39) missense possibly damaging 0.78
IGL01384:Aopep APN 13 63,338,290 (GRCm39) splice site probably benign
IGL01780:Aopep APN 13 63,357,939 (GRCm39) missense probably benign 0.00
IGL01876:Aopep APN 13 63,338,336 (GRCm39) missense probably damaging 1.00
IGL02096:Aopep APN 13 63,208,903 (GRCm39) missense probably benign 0.04
IGL02166:Aopep APN 13 63,163,267 (GRCm39) missense probably benign 0.02
IGL02184:Aopep APN 13 63,215,925 (GRCm39) missense possibly damaging 0.50
PIT4378001:Aopep UTSW 13 63,163,021 (GRCm39) missense probably damaging 1.00
R0139:Aopep UTSW 13 63,338,298 (GRCm39) missense probably benign 0.01
R1209:Aopep UTSW 13 63,338,878 (GRCm39) splice site probably null
R1233:Aopep UTSW 13 63,347,334 (GRCm39) missense probably damaging 0.96
R1756:Aopep UTSW 13 63,215,875 (GRCm39) missense possibly damaging 0.95
R1786:Aopep UTSW 13 63,357,963 (GRCm39) missense probably benign 0.00
R1861:Aopep UTSW 13 63,163,597 (GRCm39) missense probably damaging 1.00
R2130:Aopep UTSW 13 63,357,963 (GRCm39) missense probably benign 0.00
R2131:Aopep UTSW 13 63,357,963 (GRCm39) missense probably benign 0.00
R3076:Aopep UTSW 13 63,387,929 (GRCm39) missense probably damaging 0.96
R3702:Aopep UTSW 13 63,163,144 (GRCm39) missense probably benign 0.01
R3912:Aopep UTSW 13 63,304,520 (GRCm39) nonsense probably null
R4512:Aopep UTSW 13 63,304,481 (GRCm39) missense probably damaging 0.99
R4593:Aopep UTSW 13 63,215,906 (GRCm39) missense probably benign 0.01
R4596:Aopep UTSW 13 63,215,906 (GRCm39) missense probably benign 0.01
R4597:Aopep UTSW 13 63,215,906 (GRCm39) missense probably benign 0.01
R4616:Aopep UTSW 13 63,446,565 (GRCm39) missense probably damaging 1.00
R4625:Aopep UTSW 13 63,215,906 (GRCm39) missense probably benign 0.01
R4627:Aopep UTSW 13 63,215,906 (GRCm39) missense probably benign 0.01
R4630:Aopep UTSW 13 63,215,906 (GRCm39) missense probably benign 0.01
R4632:Aopep UTSW 13 63,215,906 (GRCm39) missense probably benign 0.01
R4911:Aopep UTSW 13 63,318,753 (GRCm39) critical splice acceptor site probably null
R5204:Aopep UTSW 13 63,180,904 (GRCm39) missense probably benign 0.15
R5210:Aopep UTSW 13 63,215,924 (GRCm39) missense probably benign 0.00
R5849:Aopep UTSW 13 63,163,312 (GRCm39) missense probably benign 0.00
R5861:Aopep UTSW 13 63,446,626 (GRCm39) missense probably damaging 1.00
R5960:Aopep UTSW 13 63,388,087 (GRCm39) missense probably damaging 0.99
R6021:Aopep UTSW 13 63,208,896 (GRCm39) missense probably damaging 1.00
R6048:Aopep UTSW 13 63,388,139 (GRCm39) missense probably damaging 0.99
R6379:Aopep UTSW 13 63,216,057 (GRCm39) missense probably damaging 0.97
R7038:Aopep UTSW 13 63,338,339 (GRCm39) missense possibly damaging 0.54
R7493:Aopep UTSW 13 63,163,345 (GRCm39) missense probably benign 0.01
R7788:Aopep UTSW 13 63,304,407 (GRCm39) missense possibly damaging 0.89
R7970:Aopep UTSW 13 63,180,974 (GRCm39) missense probably benign 0.11
R7988:Aopep UTSW 13 63,208,954 (GRCm39) missense probably benign 0.00
R8041:Aopep UTSW 13 63,180,921 (GRCm39) missense probably damaging 1.00
R8052:Aopep UTSW 13 63,216,065 (GRCm39) missense probably damaging 1.00
R8053:Aopep UTSW 13 63,338,345 (GRCm39) nonsense probably null
R8537:Aopep UTSW 13 63,338,364 (GRCm39) missense probably damaging 1.00
R8681:Aopep UTSW 13 63,338,373 (GRCm39) missense probably damaging 1.00
R8909:Aopep UTSW 13 63,388,111 (GRCm39) missense possibly damaging 0.95
R8945:Aopep UTSW 13 63,388,145 (GRCm39) missense probably null 1.00
R8990:Aopep UTSW 13 63,304,428 (GRCm39) missense probably damaging 1.00
R9032:Aopep UTSW 13 63,444,681 (GRCm39) nonsense probably null
R9049:Aopep UTSW 13 63,208,852 (GRCm39) missense probably benign 0.00
R9166:Aopep UTSW 13 63,318,862 (GRCm39) critical splice donor site probably null
R9590:Aopep UTSW 13 63,208,923 (GRCm39) missense probably benign
Z1177:Aopep UTSW 13 63,318,804 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTCCTTGTACTTGGGAGTTC -3'
(R):5'- GCTGCCAGTGATCTTCAGATG -3'

Sequencing Primer
(F):5'- TCCAGTCCTCGATTTTAGGAAG -3'
(R):5'- GCCAGTGATCTTCAGATGCTAAC -3'
Posted On 2021-01-18