Incidental Mutation 'R4512:Aopep'
| ID |
331280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aopep
|
| Ensembl Gene |
ENSMUSG00000021458 |
| Gene Name |
aminopeptidase O |
| Synonyms |
2010111I01Rik, ApO |
| MMRRC Submission |
041587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4512 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63304481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 497
(T497S)
|
| 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: T497S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: T497S
| 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: T498S
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: T498S
| 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 |
noncoding transcript
Transcript: ENSMUST00000220457
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220863
AA Change: T389S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221676
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222907
|
| Meta Mutation Damage Score |
0.2706 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
99% (67/68) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,978,573 (GRCm39) |
D573V |
probably damaging |
Het |
| Adgrg5 |
T |
C |
8: 95,660,652 (GRCm39) |
V93A |
possibly damaging |
Het |
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,478,120 (GRCm39) |
|
probably benign |
Het |
| Atp6v1h |
T |
C |
1: 5,168,358 (GRCm39) |
|
probably null |
Het |
| Aup1 |
C |
T |
6: 83,033,368 (GRCm39) |
R248* |
probably null |
Het |
| BC016579 |
C |
A |
16: 45,453,363 (GRCm39) |
A151S |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,543,259 (GRCm39) |
D799G |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,155,399 (GRCm39) |
R739W |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,085,009 (GRCm39) |
C553* |
probably null |
Het |
| Fhl4 |
A |
G |
10: 84,934,578 (GRCm39) |
S68P |
possibly damaging |
Het |
| Gcc1 |
T |
C |
6: 28,419,208 (GRCm39) |
E375G |
probably benign |
Het |
| Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
| Hspbap1 |
C |
T |
16: 35,607,611 (GRCm39) |
S39F |
probably damaging |
Het |
| Lmln |
G |
A |
16: 32,908,507 (GRCm39) |
R311Q |
probably benign |
Het |
| Ly6e |
T |
A |
15: 74,829,682 (GRCm39) |
V24D |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,996,871 (GRCm39) |
T225A |
probably damaging |
Het |
| Mark1 |
C |
A |
1: 184,639,286 (GRCm39) |
R577L |
probably benign |
Het |
| Mlxip |
G |
T |
5: 123,533,128 (GRCm39) |
V46L |
probably benign |
Het |
| Mrpl40 |
T |
C |
16: 18,691,308 (GRCm39) |
D134G |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,532,860 (GRCm39) |
Y1300C |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,943 (GRCm39) |
I2133V |
possibly damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,315 (GRCm39) |
D219G |
probably damaging |
Het |
| Nfkbie |
C |
T |
17: 45,867,165 (GRCm39) |
S100L |
probably benign |
Het |
| Oard1 |
A |
G |
17: 48,723,788 (GRCm39) |
I145V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,816,109 (GRCm39) |
|
probably null |
Het |
| Oplah |
A |
G |
15: 76,182,155 (GRCm39) |
L1035P |
probably damaging |
Het |
| Or4n4b |
C |
A |
14: 50,536,453 (GRCm39) |
L104F |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
| Or5m3b |
T |
C |
2: 85,871,913 (GRCm39) |
S85P |
probably damaging |
Het |
| Otud7a |
T |
C |
7: 63,379,625 (GRCm39) |
F284L |
probably benign |
Het |
| Parg |
T |
C |
14: 31,984,693 (GRCm39) |
V241A |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,736,802 (GRCm39) |
|
probably null |
Het |
| Psd4 |
C |
T |
2: 24,292,901 (GRCm39) |
R684C |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,432,902 (GRCm39) |
|
probably benign |
Het |
| R3hcc1 |
A |
G |
14: 69,936,060 (GRCm39) |
S250P |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,561,909 (GRCm39) |
Y272N |
unknown |
Het |
| Selplg |
A |
G |
5: 113,957,124 (GRCm39) |
V394A |
probably benign |
Het |
| Senp7 |
T |
G |
16: 55,986,246 (GRCm39) |
F559V |
probably damaging |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Smim3 |
A |
T |
18: 60,608,556 (GRCm39) |
V32D |
probably damaging |
Het |
| Spsb3 |
A |
G |
17: 25,109,270 (GRCm39) |
D47G |
probably damaging |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Stk11 |
T |
C |
10: 79,962,211 (GRCm39) |
|
probably benign |
Het |
| Susd1 |
A |
T |
4: 59,329,491 (GRCm39) |
L646Q |
possibly damaging |
Het |
| Tmprss11a |
A |
G |
5: 86,576,437 (GRCm39) |
V138A |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,728,969 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,814 (GRCm39) |
K15033E |
probably damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,755,749 (GRCm39) |
D173Y |
probably damaging |
Het |
| Uncx |
A |
G |
5: 139,532,522 (GRCm39) |
I196V |
possibly damaging |
Het |
| Vamp4 |
A |
T |
1: 162,405,457 (GRCm39) |
D28V |
possibly damaging |
Het |
| Vmn2r78 |
C |
T |
7: 86,569,452 (GRCm39) |
S115F |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,759,007 (GRCm39) |
C138Y |
probably damaging |
Het |
| Zfp985 |
G |
A |
4: 147,668,020 (GRCm39) |
C296Y |
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 |
|
|
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 |
|
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'- ATAACAGACTCTGTGGGCTAAG -3'
(R):5'- CAAACATAGTGCTTAGTACACACAG -3'
Sequencing Primer
(F):5'- CACTGAGTAGCCACAGGGAC -3'
(R):5'- GTGCTTAGTACACACAGCATATAATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation