Incidental Mutation 'R4616:Aopep'
ID 351061
Institutional Source Beutler Lab
Gene Symbol Aopep
Ensembl Gene ENSMUSG00000021458
Gene Name aminopeptidase O
Synonyms 2010111I01Rik, ApO
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 63112707-63473910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63446565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 123 (E123K)
Ref Sequence ENSEMBL: ENSMUSP00000152100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021911] [ENSMUST00000091560] [ENSMUST00000220884] [ENSMUST00000220485] [ENSMUST00000220684]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021911
AA Change: E790K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: E790K

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 noncoding transcript
Transcript: ENSMUST00000083541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083665
Predicted Effect probably damaging
Transcript: ENSMUST00000091560
AA Change: E791K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: E791K

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: E134K
SMART Domains Protein: ENSMUSP00000124560
Gene: ENSMUSG00000021458
AA Change: E134K

DomainStartEndE-ValueType
Leuk-A4-hydro_C 1 113 4.63e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180734
Predicted Effect unknown
Transcript: ENSMUST00000220863
AA Change: E682K
Predicted Effect probably damaging
Transcript: ENSMUST00000220884
AA Change: E123K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221164
Predicted Effect probably benign
Transcript: ENSMUST00000220485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220885
Predicted Effect probably benign
Transcript: ENSMUST00000220684
Predicted Effect unknown
Transcript: ENSMUST00000222929
AA Change: E149K
Predicted Effect unknown
Transcript: ENSMUST00000221820
AA Change: E88K
Predicted Effect unknown
Transcript: ENSMUST00000222282
AA Change: E137K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222846
Meta Mutation Damage Score 0.4033 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly damaging 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
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'- TGCAAGCTTCAGTTGGTCAC -3'
(R):5'- GAGATCCTGAGCCTTCTTCC -3'

Sequencing Primer
(F):5'- TCAGTTGGTCACCTGCACG -3'
(R):5'- AAGACCGTTTGGCAGCC -3'
Posted On 2015-10-08