Incidental Mutation 'R9032:Aopep'
| ID |
687152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aopep
|
| Ensembl Gene |
ENSMUSG00000021458 |
| Gene Name |
aminopeptidase O |
| Synonyms |
2010111I01Rik, ApO |
| MMRRC Submission |
068861-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R9032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 63444681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 752
(R752*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
[ENSMUST00000220485]
[ENSMUST00000220684]
[ENSMUST00000220884]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021911
AA Change: R751*
|
| SMART Domains |
Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: R751*
| 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 |
probably null
Transcript: ENSMUST00000091560
AA Change: R752*
|
| SMART Domains |
Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: R752*
| 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 |
probably null
Transcript: ENSMUST00000159152
AA Change: R95*
|
| SMART Domains |
Protein: ENSMUSP00000124560
Gene: ENSMUSG00000021458
AA Change: R95*
| Domain | Start | End | E-Value | Type |
|---|
|
Leuk-A4-hydro_C
|
1 |
113 |
4.63e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220485
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220684
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220863
AA Change: R643*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220884
AA Change: R84*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221820
AA Change: R49*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222282
AA Change: R98*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222929
AA Change: R110*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (56/56) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,844,782 (GRCm39) |
M78I |
probably benign |
Het |
| Abca8b |
C |
T |
11: 109,848,073 (GRCm39) |
V803M |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,772,491 (GRCm39) |
E728G |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,194,637 (GRCm39) |
T385M |
probably damaging |
Het |
| Ankib1 |
T |
C |
5: 3,819,641 (GRCm39) |
I93V |
probably benign |
Het |
| Apoa4 |
T |
A |
9: 46,154,275 (GRCm39) |
L292Q |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,808,249 (GRCm39) |
D1142E |
probably benign |
Het |
| Asb5 |
A |
T |
8: 55,038,929 (GRCm39) |
D265V |
probably benign |
Het |
| Ash1l |
C |
T |
3: 88,889,294 (GRCm39) |
A391V |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,891,529 (GRCm39) |
V1136A |
probably benign |
Het |
| Cacna1c |
G |
T |
6: 118,615,466 (GRCm39) |
Y1308* |
probably null |
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dmtn |
A |
G |
14: 70,853,534 (GRCm39) |
S92P |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,613,639 (GRCm39) |
F353S |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,094,474 (GRCm39) |
Y676H |
possibly damaging |
Het |
| Epb41l4b |
A |
T |
4: 57,041,064 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
T |
8: 45,492,894 (GRCm39) |
N3872I |
probably benign |
Het |
| Fer |
T |
A |
17: 64,228,767 (GRCm39) |
M214K |
probably damaging |
Het |
| Fgf17 |
A |
G |
14: 70,874,436 (GRCm39) |
F129L |
probably damaging |
Het |
| Fnbp1 |
T |
C |
2: 30,973,017 (GRCm39) |
D161G |
probably damaging |
Het |
| Frmd4b |
A |
C |
6: 97,269,334 (GRCm39) |
S993A |
probably benign |
Het |
| Hsh2d |
T |
C |
8: 72,954,385 (GRCm39) |
S256P |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,660,628 (GRCm39) |
S654G |
|
Het |
| Lmnb2 |
T |
C |
10: 80,740,091 (GRCm39) |
D442G |
probably benign |
Het |
| Med19 |
A |
G |
2: 84,515,660 (GRCm39) |
M115V |
probably damaging |
Het |
| Mroh5 |
T |
C |
15: 73,655,302 (GRCm39) |
Y641C |
probably benign |
Het |
| Mrpl18 |
A |
T |
17: 13,134,582 (GRCm39) |
V61E |
probably damaging |
Het |
| Mrtfb |
A |
C |
16: 13,230,092 (GRCm39) |
T926P |
probably damaging |
Het |
| Mtap |
AC |
A |
4: 89,090,515 (GRCm39) |
|
probably null |
Het |
| Muc2 |
T |
A |
7: 141,287,058 (GRCm39) |
C154S |
probably damaging |
Het |
| Mypn |
T |
G |
10: 62,983,894 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nes |
T |
G |
3: 87,887,069 (GRCm39) |
V1776G |
possibly damaging |
Het |
| Nxn |
A |
G |
11: 76,169,383 (GRCm39) |
I132T |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,718,317 (GRCm39) |
V798I |
probably benign |
Het |
| Papss1 |
C |
A |
3: 131,324,817 (GRCm39) |
H425N |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,601,385 (GRCm39) |
N2344S |
probably benign |
Het |
| Pfas |
C |
T |
11: 68,879,421 (GRCm39) |
G263S |
|
Het |
| Pknox1 |
C |
T |
17: 31,822,229 (GRCm39) |
T332M |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,976 (GRCm39) |
D321G |
probably damaging |
Het |
| Pnma1 |
T |
C |
12: 84,193,806 (GRCm39) |
N299S |
probably benign |
Het |
| Psg23 |
T |
G |
7: 18,348,660 (GRCm39) |
N49T |
possibly damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,099 (GRCm39) |
F97S |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,035,073 (GRCm39) |
F336L |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,608,776 (GRCm39) |
P143S |
probably benign |
Het |
| Rsph6a |
A |
T |
7: 18,799,250 (GRCm39) |
N294Y |
probably damaging |
Het |
| Serpinb9h |
T |
C |
13: 33,581,781 (GRCm39) |
Y113H |
probably damaging |
Het |
| Sesn1 |
C |
T |
10: 41,686,835 (GRCm39) |
|
probably benign |
Het |
| Sh3d19 |
T |
C |
3: 86,033,992 (GRCm39) |
Y782H |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,061,049 (GRCm39) |
V374A |
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,256,227 (GRCm39) |
F156S |
probably damaging |
Het |
| Slc6a11 |
A |
T |
6: 114,202,808 (GRCm39) |
I301F |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,910,240 (GRCm39) |
K412E |
possibly damaging |
Het |
| Tas2r115 |
A |
T |
6: 132,714,327 (GRCm39) |
V208E |
probably benign |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tmem132a |
G |
T |
19: 10,843,835 (GRCm39) |
Q174K |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,237,749 (GRCm39) |
Y338* |
probably null |
Het |
| Vav3 |
C |
T |
3: 109,413,722 (GRCm39) |
A220V |
probably benign |
Het |
| Wt1 |
C |
A |
2: 104,957,160 (GRCm39) |
Q7K |
probably benign |
Het |
| Zbtb4 |
T |
A |
11: 69,672,650 (GRCm39) |
F204L |
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,684,660 (GRCm39) |
L425H |
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 |
|
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 |
|
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'- GGGAGTTCCAGTCCTCGATTTTAG -3'
(R):5'- CTCACAGCTGCCAGTGATCTTC -3'
Sequencing Primer
(F):5'- CCAGTCCTCGATTTTAGGAAGAAATG -3'
(R):5'- ACAGCTGCCAGTGATCTTCAGATG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation