Incidental Mutation 'R5861:Aopep'
ID |
453934 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aopep
|
Ensembl Gene |
ENSMUSG00000021458 |
Gene Name |
aminopeptidase O |
Synonyms |
2010111I01Rik, ApO |
MMRRC Submission |
044073-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R5861 (G1)
|
Quality Score |
183 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63446626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 143
(D143G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
[ENSMUST00000220485]
[ENSMUST00000220884]
[ENSMUST00000220684]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021911
AA Change: D810G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021911 Gene: ENSMUSG00000021458 AA Change: D810G
Domain | Start | End | E-Value | Type |
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: D811G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089148 Gene: ENSMUSG00000021458 AA Change: D811G
Domain | Start | End | E-Value | Type |
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: D154G
|
SMART Domains |
Protein: ENSMUSP00000124560 Gene: ENSMUSG00000021458 AA Change: D154G
Domain | Start | End | E-Value | Type |
Leuk-A4-hydro_C
|
1 |
113 |
4.63e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180734
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198479
|
Predicted Effect |
unknown
Transcript: ENSMUST00000222282
AA Change: D157G
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220485
AA Change: D7G
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220863
AA Change: D702G
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220884
AA Change: D143G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000221820
AA Change: D108G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221108
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221501
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222721
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220885
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220670
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220684
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221364
|
Predicted Effect |
unknown
Transcript: ENSMUST00000222929
AA Change: D169G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223204
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223073
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223007
|
Meta Mutation Damage Score |
0.7796 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.3%
|
Validation Efficiency |
98% (81/83) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
T |
16: 20,218,644 (GRCm39) |
T246N |
probably damaging |
Het |
Arhgap10 |
C |
T |
8: 78,037,393 (GRCm39) |
A612T |
probably damaging |
Het |
Arsg |
T |
A |
11: 109,454,014 (GRCm39) |
F407I |
probably damaging |
Het |
Asxl1 |
C |
A |
2: 153,241,310 (GRCm39) |
A620D |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,093,682 (GRCm39) |
|
probably benign |
Het |
Chn2 |
G |
A |
6: 54,267,359 (GRCm39) |
V92I |
probably damaging |
Het |
Cog2 |
T |
C |
8: 125,264,617 (GRCm39) |
F332S |
probably damaging |
Het |
Crhbp |
G |
A |
13: 95,580,333 (GRCm39) |
A82V |
probably damaging |
Het |
Cyp2j6 |
A |
G |
4: 96,434,040 (GRCm39) |
V90A |
possibly damaging |
Het |
Dennd4c |
A |
T |
4: 86,709,589 (GRCm39) |
M397L |
probably benign |
Het |
Dnajb8 |
A |
G |
6: 88,200,088 (GRCm39) |
D208G |
possibly damaging |
Het |
Ecm1 |
G |
C |
3: 95,643,909 (GRCm39) |
L230V |
probably damaging |
Het |
Ercc2 |
G |
C |
7: 19,128,066 (GRCm39) |
A696P |
possibly damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gm13035 |
A |
G |
4: 146,009,859 (GRCm39) |
|
noncoding transcript |
Het |
Gm28042 |
T |
C |
2: 119,865,116 (GRCm39) |
V247A |
probably damaging |
Het |
Gm28455 |
T |
A |
7: 39,148,003 (GRCm39) |
|
noncoding transcript |
Het |
Gpr150 |
A |
T |
13: 76,204,192 (GRCm39) |
V251D |
possibly damaging |
Het |
Grip1 |
C |
T |
10: 119,765,875 (GRCm39) |
S69L |
probably damaging |
Het |
Hs6st3 |
A |
G |
14: 119,376,265 (GRCm39) |
I147V |
possibly damaging |
Het |
Il5 |
G |
A |
11: 53,614,743 (GRCm39) |
E102K |
probably benign |
Het |
Kif1c |
T |
C |
11: 70,594,621 (GRCm39) |
F94L |
probably damaging |
Het |
Lrrc63 |
T |
C |
14: 75,344,806 (GRCm39) |
E427G |
possibly damaging |
Het |
Man1b1 |
A |
G |
2: 25,238,066 (GRCm39) |
T384A |
probably benign |
Het |
Mapk15 |
C |
A |
15: 75,868,208 (GRCm39) |
|
probably benign |
Het |
Mfsd10 |
T |
C |
5: 34,791,588 (GRCm39) |
|
probably benign |
Het |
Mgat5 |
C |
A |
1: 127,315,129 (GRCm39) |
A285E |
probably damaging |
Het |
Mroh4 |
T |
A |
15: 74,478,456 (GRCm39) |
|
probably benign |
Het |
Myf5 |
A |
T |
10: 107,320,069 (GRCm39) |
C194S |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,226,347 (GRCm39) |
V431A |
possibly damaging |
Het |
Nadsyn1 |
A |
C |
7: 143,364,964 (GRCm39) |
M247R |
possibly damaging |
Het |
Nipsnap3b |
A |
G |
4: 53,021,177 (GRCm39) |
D166G |
probably damaging |
Het |
Nqo2 |
A |
T |
13: 34,156,413 (GRCm39) |
L42F |
probably damaging |
Het |
Nt5dc3 |
A |
T |
10: 86,651,738 (GRCm39) |
D180V |
probably damaging |
Het |
Numa1 |
C |
A |
7: 101,658,494 (GRCm39) |
|
probably null |
Het |
Olfm3 |
T |
A |
3: 114,916,052 (GRCm39) |
L328Q |
probably damaging |
Het |
Or4e1 |
T |
C |
14: 52,700,953 (GRCm39) |
Y171C |
probably damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,922 (GRCm39) |
N138K |
probably benign |
Het |
Or7a37 |
A |
T |
10: 78,805,765 (GRCm39) |
Y94F |
probably damaging |
Het |
Papolb |
T |
C |
5: 142,514,992 (GRCm39) |
N217S |
possibly damaging |
Het |
Pcmtd2 |
C |
A |
2: 181,484,268 (GRCm39) |
T26K |
probably damaging |
Het |
Pld5 |
T |
G |
1: 175,917,571 (GRCm39) |
N59H |
probably damaging |
Het |
Ppm1d |
T |
C |
11: 85,202,674 (GRCm39) |
S126P |
possibly damaging |
Het |
Ppp1r21 |
T |
C |
17: 88,889,937 (GRCm39) |
L727P |
probably damaging |
Het |
Pramel20 |
G |
T |
4: 143,297,810 (GRCm39) |
V77L |
probably benign |
Het |
Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
Rara |
T |
A |
11: 98,858,987 (GRCm39) |
C148* |
probably null |
Het |
Rexo2 |
A |
T |
9: 48,386,481 (GRCm39) |
I83N |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,364,203 (GRCm39) |
R4501G |
probably damaging |
Het |
Rps5 |
T |
A |
7: 12,659,501 (GRCm39) |
F97L |
probably damaging |
Het |
Sigirr |
G |
A |
7: 140,671,292 (GRCm39) |
R397W |
probably damaging |
Het |
Slc6a6 |
T |
C |
6: 91,718,014 (GRCm39) |
Y318H |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,796,570 (GRCm39) |
T174A |
probably benign |
Het |
Stam2 |
G |
T |
2: 52,632,116 (GRCm39) |
|
probably benign |
Het |
Taar7a |
T |
C |
10: 23,868,337 (GRCm39) |
E348G |
probably benign |
Het |
Taf11 |
T |
C |
17: 28,120,644 (GRCm39) |
T209A |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,492,424 (GRCm39) |
|
probably benign |
Het |
Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
Uevld |
A |
T |
7: 46,576,104 (GRCm39) |
S461T |
probably benign |
Het |
Vmn2r6 |
T |
A |
3: 64,463,454 (GRCm39) |
N460I |
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zfp316 |
T |
C |
5: 143,249,095 (GRCm39) |
Y180C |
unknown |
Het |
Zfp941 |
A |
G |
7: 140,392,052 (GRCm39) |
S436P |
probably damaging |
Het |
Zfp979 |
G |
A |
4: 147,697,966 (GRCm39) |
Q248* |
probably null |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably damaging |
Het |
|
Other mutations in Aopep |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- CTTCAGTTGGTCACCTGCAC -3'
(R):5'- GAGATCCTGAGCCTTCTTCCTG -3'
Sequencing Primer
(F):5'- GCTTTTAGACCAGCTTGTGTAAAG -3'
(R):5'- TGTTCCTGAGGACCCACC -3'
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Posted On |
2017-02-10 |