Incidental Mutation 'R3076:Aopep'
ID 265232
Institutional Source Beutler Lab
Gene Symbol Aopep
Ensembl Gene ENSMUSG00000021458
Gene Name aminopeptidase O
Synonyms 2010111I01Rik, ApO
MMRRC Submission 040566-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R3076 (G1)
Quality Score 106
Status Not validated
Chromosome 13
Chromosomal Location 63112707-63473910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 63387929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 3 (D3A)
Ref Sequence ENSEMBL: ENSMUSP00000152100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021911] [ENSMUST00000091560] [ENSMUST00000220884]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021911
AA Change: D670A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: D670A

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 probably benign
Transcript: ENSMUST00000091560
AA Change: D671A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: D671A

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 unknown
Transcript: ENSMUST00000159152
AA Change: D14A
SMART Domains Protein: ENSMUSP00000124560
Gene: ENSMUSG00000021458
AA Change: D14A

DomainStartEndE-ValueType
Leuk-A4-hydro_C 1 113 4.63e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220806
Predicted Effect unknown
Transcript: ENSMUST00000220863
AA Change: D562A
Predicted Effect unknown
Transcript: ENSMUST00000221820
AA Change: D7A
Predicted Effect probably damaging
Transcript: ENSMUST00000220884
AA Change: D3A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect unknown
Transcript: ENSMUST00000222929
AA Change: D29A
Predicted Effect probably benign
Transcript: ENSMUST00000222282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223185
Predicted Effect probably benign
Transcript: ENSMUST00000221676
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 A T 5: 129,206,169 (GRCm39) I248F probably benign Het
Amigo2 C T 15: 97,143,315 (GRCm39) R369Q probably damaging Het
Arfgef3 T C 10: 18,479,278 (GRCm39) I1446V probably damaging Het
Ascc2 T A 11: 4,622,446 (GRCm39) L504Q probably damaging Het
Atp1a3 A G 7: 24,679,498 (GRCm39) V932A possibly damaging Het
Cabcoco1 T G 10: 68,361,475 (GRCm39) Y8S possibly damaging Het
Cct8 A G 16: 87,285,765 (GRCm39) V231A possibly damaging Het
Col18a1 T C 10: 76,924,762 (GRCm39) K9R possibly damaging Het
Dlgap3 A G 4: 127,089,499 (GRCm39) Y365C probably damaging Het
Dock3 T C 9: 106,818,725 (GRCm39) probably null Het
Gtf3c4 A T 2: 28,725,165 (GRCm39) V189E possibly damaging Het
Khdc3 C A 9: 73,010,212 (GRCm39) F89L probably damaging Het
Kif14 T G 1: 136,447,383 (GRCm39) I1396S possibly damaging Het
Magi1 T C 6: 93,734,668 (GRCm39) Q393R possibly damaging Het
Med28 A G 5: 45,679,820 (GRCm39) T68A possibly damaging Het
Meis1 A T 11: 18,961,254 (GRCm39) N206K probably benign Het
Mnt G C 11: 74,733,936 (GRCm39) probably benign Het
Mrgpre C T 7: 143,335,033 (GRCm39) A157T probably benign Het
Mtpn C T 6: 35,498,879 (GRCm39) V76I possibly damaging Het
Nbeal2 A T 9: 110,460,768 (GRCm39) W1702R probably damaging Het
Nhsl2 C T X: 101,121,201 (GRCm39) R62W probably damaging Het
Npr2 T A 4: 43,640,182 (GRCm39) Y306N probably damaging Het
Nrsn1 T C 13: 25,437,542 (GRCm39) T129A probably benign Het
Nrxn3 T G 12: 89,227,186 (GRCm39) C274G probably damaging Het
Nyap2 T C 1: 81,219,686 (GRCm39) probably null Het
Or1e29 G A 11: 73,667,466 (GRCm39) P229L possibly damaging Het
Or1o11 T C 17: 37,756,375 (GRCm39) probably benign Het
Phldb2 T C 16: 45,645,373 (GRCm39) T403A probably benign Het
Plaa T C 4: 94,458,042 (GRCm39) I643V probably benign Het
Ptprb T C 10: 116,179,931 (GRCm39) S1450P probably damaging Het
Sh2d2a T C 3: 87,759,477 (GRCm39) I296T probably benign Het
Shtn1 T C 19: 58,983,518 (GRCm39) E471G probably damaging Het
St7 T G 6: 17,846,237 (GRCm39) Y163* probably null Het
Svil T C 18: 5,116,055 (GRCm39) S1623P probably damaging Het
Ugcg T G 4: 59,213,922 (GRCm39) V168G probably damaging Het
Vmn1r223 G A 13: 23,434,335 (GRCm39) A310T probably benign Het
Zfp647 A T 15: 76,802,209 (GRCm39) M1K probably null 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
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
R8554:Aopep UTSW 13 63,444,711 (GRCm39) missense possibly damaging 0.94
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'- TCTGAGAACAATAACAGCCAGG -3'
(R):5'- AGGGCCTCCTACCTTTTCAAAG -3'

Sequencing Primer
(F):5'- GACCTGGGAGCCTACACCTTTAAG -3'
(R):5'- CCCTCGTTTGCGTTTTCGGG -3'
Posted On 2015-02-05