Incidental Mutation 'R8537:Aopep'
| ID |
659298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aopep
|
| Ensembl Gene |
ENSMUSG00000021458 |
| Gene Name |
aminopeptidase O |
| Synonyms |
2010111I01Rik, ApO |
| MMRRC Submission |
067891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R8537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63338364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 579
(E579V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
[ENSMUST00000222907]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021911
AA Change: E579V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: E579V
| 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 |
possibly damaging
Transcript: ENSMUST00000091560
AA Change: E580V
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: E580V
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221676
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222282
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222907
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,684,491 (GRCm39) |
D1790V |
probably damaging |
Het |
| Avl9 |
T |
A |
6: 56,705,644 (GRCm39) |
Y175* |
probably null |
Het |
| Bmp2 |
A |
T |
2: 133,403,202 (GRCm39) |
D251V |
probably damaging |
Het |
| Camsap2 |
T |
A |
1: 136,204,943 (GRCm39) |
K1191N |
probably damaging |
Het |
| Ccdc102a |
A |
C |
8: 95,632,684 (GRCm39) |
F431C |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,798,677 (GRCm39) |
I270M |
probably damaging |
Het |
| Copb2 |
A |
G |
9: 98,469,672 (GRCm39) |
Q851R |
probably null |
Het |
| Cyp11b2 |
C |
T |
15: 74,728,016 (GRCm39) |
R22K |
probably benign |
Het |
| Ddx50 |
A |
G |
10: 62,478,628 (GRCm39) |
F186S |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,280,012 (GRCm39) |
Y926C |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,651,300 (GRCm39) |
M162T |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,893,164 (GRCm39) |
G3309V |
probably damaging |
Het |
| Dnajb2 |
T |
C |
1: 75,216,242 (GRCm39) |
F107S |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,107,870 (GRCm39) |
S867T |
probably benign |
Het |
| Eif2ak1 |
C |
A |
5: 143,835,887 (GRCm39) |
T526K |
probably damaging |
Het |
| Gnas |
T |
C |
2: 174,140,394 (GRCm39) |
S188P |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,084,671 (GRCm39) |
D36G |
probably benign |
Het |
| Gucy2e |
C |
A |
11: 69,127,179 (GRCm39) |
R98L |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,161,199 (GRCm39) |
|
probably benign |
Het |
| Icos |
A |
G |
1: 61,033,101 (GRCm39) |
D100G |
probably damaging |
Het |
| Ifi203 |
A |
T |
1: 173,756,472 (GRCm39) |
|
probably benign |
Het |
| Ift46 |
T |
A |
9: 44,695,280 (GRCm39) |
L92Q |
probably damaging |
Het |
| Kcnip2 |
C |
T |
19: 45,804,169 (GRCm39) |
|
probably null |
Het |
| Lgr5 |
T |
C |
10: 115,288,307 (GRCm39) |
Y779C |
probably damaging |
Het |
| Ltk |
G |
T |
2: 119,588,588 (GRCm39) |
P287Q |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,652 (GRCm39) |
C852* |
probably null |
Het |
| Mmp27 |
A |
G |
9: 7,579,776 (GRCm39) |
M443V |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,184 (GRCm39) |
D769G |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,110,142 (GRCm39) |
I1107V |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,355,520 (GRCm39) |
H211L |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,343,742 (GRCm39) |
K40N |
probably damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,382 (GRCm39) |
T208S |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,848 (GRCm39) |
E22D |
probably damaging |
Het |
| Osbpl10 |
G |
T |
9: 115,058,977 (GRCm39) |
A718S |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,503,619 (GRCm39) |
I64K |
possibly damaging |
Het |
| Prlr |
T |
C |
15: 10,314,266 (GRCm39) |
|
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,746,059 (GRCm39) |
I424T |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
G |
T |
3: 30,872,961 (GRCm39) |
R348L |
unknown |
Het |
| Sema5b |
C |
T |
16: 35,471,979 (GRCm39) |
A479V |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,416,418 (GRCm39) |
I222T |
probably damaging |
Het |
| Sp1 |
C |
T |
15: 102,316,964 (GRCm39) |
T154I |
possibly damaging |
Het |
| Spata31e1 |
A |
G |
13: 49,940,108 (GRCm39) |
V534A |
possibly damaging |
Het |
| Srek1 |
A |
G |
13: 103,888,957 (GRCm39) |
|
probably benign |
Het |
| Tmem129 |
A |
G |
5: 33,812,920 (GRCm39) |
S143P |
possibly damaging |
Het |
| Tmem202 |
A |
T |
9: 59,426,929 (GRCm39) |
C194S |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,884,403 (GRCm39) |
I93K |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,606,653 (GRCm39) |
Y16340H |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
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 |
|
|
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'- CTGGAACTGTTGAGCTGAAGG -3'
(R):5'- CTACTCATTTGCAGCAGGAAAC -3'
Sequencing Primer
(F):5'- GAAGGCACAGCTGCACAAGTC -3'
(R):5'- ATTAACCTGTGAGTACTCGGCCTAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation