Incidental Mutation 'R4597:Aopep'
ID 344467
Institutional Source Beutler Lab
Gene Symbol Aopep
Ensembl Gene ENSMUSG00000021458
Gene Name aminopeptidase O
Synonyms 2010111I01Rik, ApO
MMRRC Submission 041813-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4597 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 63112707-63473910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63215906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 393 (S393P)
Ref Sequence ENSEMBL: ENSMUSP00000089148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021911] [ENSMUST00000091560]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021911
AA Change: S392P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: S392P

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: S393P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: S393P

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: ENSMUST00000220863
AA Change: S284P
Predicted Effect probably benign
Transcript: ENSMUST00000221676
Meta Mutation Damage Score 0.0778 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (67/70)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik T A 2: 103,856,500 (GRCm39) probably benign Het
Aadacl2fm3 T A 3: 59,784,214 (GRCm39) M229K possibly damaging Het
Adh5 T C 3: 138,151,118 (GRCm39) V27A probably damaging Het
Ank2 A T 3: 126,781,800 (GRCm39) D843E probably damaging Het
Arid2 A G 15: 96,268,737 (GRCm39) N950S probably damaging Het
Arl1 A T 10: 88,566,608 (GRCm39) probably benign Het
Bcl3 T G 7: 19,546,428 (GRCm39) I136L probably damaging Het
Car9 T A 4: 43,509,138 (GRCm39) S235R probably damaging Het
Carnmt1 G T 19: 18,648,451 (GRCm39) G30W probably damaging Het
Casp12 C T 9: 5,348,941 (GRCm39) T101I possibly damaging Het
Cdh23 A G 10: 60,244,823 (GRCm39) L1026P probably damaging Het
Clec10a A T 11: 70,060,806 (GRCm39) Y186F probably damaging Het
Col22a1 G T 15: 71,836,511 (GRCm39) A508E possibly damaging Het
Crocc G C 4: 140,747,088 (GRCm39) S1573R probably damaging Het
Cttnbp2nl G T 3: 104,913,191 (GRCm39) T231K possibly damaging Het
Drd4 T C 7: 140,874,392 (GRCm39) V319A probably damaging Het
Ehbp1l1 T C 19: 5,767,955 (GRCm39) E1116G possibly damaging Het
Fam83d T C 2: 158,627,142 (GRCm39) V277A possibly damaging Het
Fga G T 3: 82,938,542 (GRCm39) G306* probably null Het
Fkbp9 A G 6: 56,809,367 (GRCm39) Y59C probably damaging Het
Frmpd1 A G 4: 45,274,441 (GRCm39) T450A probably benign Het
Gabbr1 A G 17: 37,367,791 (GRCm39) M414V possibly damaging Het
Gm16506 A G 14: 43,962,572 (GRCm39) F112L unknown Het
Gm27047 T C 6: 130,607,299 (GRCm39) noncoding transcript Het
Gm4353 T A 7: 115,682,847 (GRCm39) K245* probably null Het
Gm4950 A T 18: 51,998,865 (GRCm39) I30N probably benign Het
H1f5 A T 13: 21,964,681 (GRCm39) V15E probably damaging Het
H2-M10.2 T C 17: 36,596,285 (GRCm39) T187A probably benign Het
H60c A T 10: 3,209,968 (GRCm39) N106K possibly damaging Het
Hoxa6 T C 6: 52,185,387 (GRCm39) probably null Het
Ighv1-74 A G 12: 115,766,276 (GRCm39) C115R probably damaging Het
Il17a G A 1: 20,801,217 (GRCm39) probably null Het
Itga9 T C 9: 118,672,582 (GRCm39) Y199H probably damaging Het
Itpr3 C T 17: 27,312,257 (GRCm39) R554C probably damaging Het
Kcnc3 T A 7: 44,245,240 (GRCm39) M510K probably damaging Het
Kif15 A G 9: 122,822,914 (GRCm39) T432A probably benign Het
Kif26b A T 1: 178,744,358 (GRCm39) S1485C probably damaging Het
Klhl2 C A 8: 65,207,421 (GRCm39) G313W probably damaging Het
Klhl32 C T 4: 24,629,339 (GRCm39) S476N probably benign Het
Krt1 C T 15: 101,756,063 (GRCm39) E386K possibly damaging Het
Lats1 T C 10: 7,567,510 (GRCm39) S94P probably benign Het
Ltf G A 9: 110,852,001 (GRCm39) C146Y probably damaging Het
Mars1 A G 10: 127,136,322 (GRCm39) L501P probably damaging Het
Myh2 A C 11: 67,080,244 (GRCm39) I1153L probably benign Het
Ncstn A T 1: 171,895,823 (GRCm39) Y522* probably null Het
Nipal4 A G 11: 46,042,156 (GRCm39) V175A probably damaging Het
Or7e169 T C 9: 19,756,987 (GRCm39) I309M probably benign Het
Pcdha1 C G 18: 37,064,959 (GRCm39) A541G possibly damaging Het
Pex11g A G 8: 3,514,043 (GRCm39) Y40H probably damaging Het
Pira13 T A 7: 3,825,154 (GRCm39) Y496F possibly damaging Het
Qrfprl T C 6: 65,424,408 (GRCm39) probably null Het
Rin2 G T 2: 145,702,825 (GRCm39) R507L probably benign Het
Sh2b2 T C 5: 136,260,616 (GRCm39) D200G probably damaging Het
Smg7 C A 1: 152,716,052 (GRCm39) probably null Het
Snx17 T C 5: 31,355,857 (GRCm39) probably benign Het
Sos1 T C 17: 80,741,255 (GRCm39) Y510C probably benign Het
Spata31d1c T A 13: 65,183,427 (GRCm39) L323* probably null Het
Supt16 C T 14: 52,411,046 (GRCm39) G686D probably damaging Het
Szt2 C T 4: 118,229,878 (GRCm39) R2751H unknown Het
Tnfsf8 A G 4: 63,755,337 (GRCm39) L95P probably damaging Het
Vmn2r17 A G 5: 109,577,428 (GRCm39) H493R probably benign Het
Zfp770 C T 2: 114,027,251 (GRCm39) A273T 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
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'- TTTTCACTGCTGCCCAAAAGC -3'
(R):5'- AGCAGCATACCTGGCCATTC -3'

Sequencing Primer
(F):5'- CTGGGATTTGAACTCAGGACC -3'
(R):5'- TGGCCATTCCCAGACTTGG -3'
Posted On 2015-09-25