Incidental Mutation 'R4625:Aopep'
| ID |
346511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aopep
|
| Ensembl Gene |
ENSMUSG00000021458 |
| Gene Name |
aminopeptidase O |
| Synonyms |
2010111I01Rik, ApO |
| MMRRC Submission |
041890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4625 (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
| 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 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
| 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: ENSMUST00000220863
AA Change: S284P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221676
|
| Meta Mutation Damage Score |
0.0778 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (75/77) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
C |
5: 144,981,693 (GRCm39) |
E176A |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,792,178 (GRCm39) |
I320V |
probably benign |
Het |
| Abtb1 |
C |
T |
6: 88,813,269 (GRCm39) |
A466T |
probably benign |
Het |
| Ak6 |
C |
A |
13: 100,792,181 (GRCm39) |
T208K |
probably benign |
Het |
| Albfm1 |
G |
T |
5: 90,719,611 (GRCm39) |
V236L |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Anapc15 |
T |
A |
7: 101,550,239 (GRCm39) |
|
probably benign |
Het |
| Anxa2r1 |
G |
T |
13: 120,496,765 (GRCm39) |
R35S |
possibly damaging |
Het |
| Aspn |
A |
G |
13: 49,710,901 (GRCm39) |
D182G |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,407,864 (GRCm39) |
D607V |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,598,725 (GRCm39) |
I114V |
probably null |
Het |
| Ccdc159 |
A |
G |
9: 21,840,762 (GRCm39) |
S110G |
probably benign |
Het |
| Cdh18 |
A |
C |
15: 22,714,128 (GRCm39) |
|
probably benign |
Het |
| Cdh22 |
A |
G |
2: 164,954,526 (GRCm39) |
I665T |
probably damaging |
Het |
| Cenpk |
T |
A |
13: 104,385,901 (GRCm39) |
H265Q |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,811,412 (GRCm39) |
L1397P |
probably damaging |
Het |
| Chia1 |
A |
C |
3: 106,036,256 (GRCm39) |
N279H |
probably benign |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,651 (GRCm39) |
E227G |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,311,404 (GRCm39) |
N1772K |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,354,487 (GRCm39) |
S2244P |
probably damaging |
Het |
| Fshr |
T |
C |
17: 89,293,148 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gm5087 |
T |
C |
14: 13,158,798 (GRCm38) |
|
noncoding transcript |
Het |
| Gm7135 |
A |
C |
1: 97,387,351 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpll |
A |
T |
17: 80,358,291 (GRCm39) |
Y153* |
probably null |
Het |
| Htt |
T |
A |
5: 34,987,129 (GRCm39) |
V1116E |
probably damaging |
Het |
| Ikzf5 |
A |
T |
7: 130,995,482 (GRCm39) |
|
probably null |
Het |
| Kcnb1 |
A |
G |
2: 167,030,153 (GRCm39) |
S131P |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,970,381 (GRCm39) |
D952E |
probably benign |
Het |
| Klf4 |
A |
G |
4: 55,530,370 (GRCm39) |
V247A |
probably benign |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lamc1 |
A |
G |
1: 153,118,442 (GRCm39) |
S910P |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,516,845 (GRCm39) |
N512K |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Mrps30 |
A |
G |
13: 118,523,250 (GRCm39) |
V174A |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,462,240 (GRCm39) |
E574G |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,913,358 (GRCm39) |
G997R |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,958,084 (GRCm39) |
C3748R |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,083 (GRCm39) |
D23G |
probably benign |
Het |
| Or5p69 |
T |
C |
7: 107,966,895 (GRCm39) |
L66P |
probably damaging |
Het |
| Or8g28 |
A |
T |
9: 39,169,614 (GRCm39) |
M118K |
probably damaging |
Het |
| Or9s18 |
T |
A |
13: 65,300,674 (GRCm39) |
V212D |
possibly damaging |
Het |
| Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,670,978 (GRCm39) |
T851A |
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
| Rbp3 |
A |
G |
14: 33,678,056 (GRCm39) |
Q668R |
probably benign |
Het |
| Rfwd3 |
T |
C |
8: 112,002,990 (GRCm39) |
T611A |
probably benign |
Het |
| Rhcg |
T |
A |
7: 79,251,352 (GRCm39) |
D219V |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Slc25a26 |
G |
T |
6: 94,484,633 (GRCm39) |
V58F |
probably damaging |
Het |
| Smarca5 |
T |
A |
8: 81,437,192 (GRCm39) |
K721N |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,655,642 (GRCm39) |
Y61* |
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,524 (GRCm39) |
Y961C |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,634,100 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
G |
4: 58,072,698 (GRCm39) |
N2204H |
probably damaging |
Het |
| Tex56 |
G |
A |
13: 35,116,448 (GRCm39) |
G66S |
probably damaging |
Het |
| Tmem86a |
C |
A |
7: 46,702,613 (GRCm39) |
P13T |
probably damaging |
Het |
| Tmt1a |
A |
T |
15: 100,210,939 (GRCm39) |
Q170L |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
| Tox2 |
G |
A |
2: 163,156,336 (GRCm39) |
S211N |
possibly damaging |
Het |
| Trpc6 |
A |
T |
9: 8,677,963 (GRCm39) |
E762D |
probably benign |
Het |
| Tshb |
C |
T |
3: 102,685,461 (GRCm39) |
|
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,189,131 (GRCm39) |
L163* |
probably null |
Het |
| Twsg1 |
G |
T |
17: 66,236,546 (GRCm39) |
D161E |
probably benign |
Het |
| Uchl4 |
A |
C |
9: 64,143,080 (GRCm39) |
D187A |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,268,443 (GRCm39) |
W9R |
probably benign |
Het |
| Yju2 |
T |
A |
17: 56,271,598 (GRCm39) |
L173Q |
probably damaging |
Het |
| Zfp14 |
G |
A |
7: 29,738,020 (GRCm39) |
Q322* |
probably null |
Het |
| Znhit3 |
G |
A |
11: 84,802,316 (GRCm39) |
P145S |
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 |
|
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 |
Incidental Mutation