Incidental Mutation 'R8053:Aopep'
| ID |
619210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aopep
|
| Ensembl Gene |
ENSMUSG00000021458 |
| Gene Name |
aminopeptidase O |
| Synonyms |
2010111I01Rik, ApO |
| MMRRC Submission |
067490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R8053 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 63338345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 574
(K574*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
[ENSMUST00000222907]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021911
AA Change: K573*
|
| SMART Domains |
Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: K573*
| 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: K574*
|
| SMART Domains |
Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: K574*
| 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: ENSMUST00000220863
AA Change: K465*
|
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
T |
12: 18,583,728 (GRCm39) |
R263* |
probably null |
Het |
| Abca12 |
G |
A |
1: 71,388,328 (GRCm39) |
R181* |
probably null |
Het |
| Adar |
T |
C |
3: 89,654,592 (GRCm39) |
L908P |
probably damaging |
Het |
| Ankrd55 |
C |
T |
13: 112,459,687 (GRCm39) |
R94C |
probably damaging |
Het |
| Carf |
A |
T |
1: 60,167,197 (GRCm39) |
T177S |
probably benign |
Het |
| Ccdc162 |
C |
A |
10: 41,520,577 (GRCm39) |
G693V |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Chd4 |
G |
T |
6: 125,105,779 (GRCm39) |
E1799* |
probably null |
Het |
| Chrna3 |
T |
A |
9: 54,922,674 (GRCm39) |
N378I |
probably benign |
Het |
| Clec4a2 |
T |
C |
6: 123,104,998 (GRCm39) |
V96A |
probably benign |
Het |
| Cntnap5b |
T |
A |
1: 100,318,402 (GRCm39) |
L683Q |
probably damaging |
Het |
| Crisp4 |
T |
A |
1: 18,194,498 (GRCm39) |
Q208L |
probably benign |
Het |
| Crocc |
A |
G |
4: 140,770,230 (GRCm39) |
|
probably null |
Het |
| Cyp2ab1 |
T |
C |
16: 20,133,018 (GRCm39) |
E192G |
probably benign |
Het |
| Cyrib |
T |
C |
15: 63,813,832 (GRCm39) |
D155G |
probably damaging |
Het |
| Daglb |
A |
G |
5: 143,489,024 (GRCm39) |
K627R |
probably benign |
Het |
| Desi2 |
G |
A |
1: 178,065,482 (GRCm39) |
W16* |
probably null |
Het |
| Dtx3l |
T |
C |
16: 35,759,322 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,215,551 (GRCm39) |
V53A |
possibly damaging |
Het |
| Eomes |
A |
G |
9: 118,309,621 (GRCm39) |
D325G |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,666,774 (GRCm39) |
L60F |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,309,191 (GRCm39) |
D271G |
probably benign |
Het |
| F5 |
A |
G |
1: 164,020,338 (GRCm39) |
I938V |
probably benign |
Het |
| Fdxr |
T |
A |
11: 115,160,665 (GRCm39) |
K290M |
probably benign |
Het |
| Fgd5 |
G |
A |
6: 91,966,425 (GRCm39) |
S886N |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,662,954 (GRCm39) |
S242F |
unknown |
Het |
| Gm14322 |
A |
T |
2: 177,411,424 (GRCm39) |
Q78L |
probably damaging |
Het |
| Gm8267 |
A |
T |
14: 44,962,307 (GRCm39) |
S38T |
possibly damaging |
Het |
| Gpr75 |
A |
T |
11: 30,841,559 (GRCm39) |
T155S |
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,858,055 (GRCm39) |
S628P |
possibly damaging |
Het |
| Hrh2 |
A |
G |
13: 54,368,104 (GRCm39) |
T27A |
probably benign |
Het |
| Kif16b |
G |
A |
2: 142,695,634 (GRCm39) |
R157C |
probably damaging |
Het |
| Krt16 |
T |
C |
11: 100,137,613 (GRCm39) |
Y364C |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,495,392 (GRCm39) |
K2809I |
unknown |
Het |
| Map2k5 |
T |
A |
9: 63,250,707 (GRCm39) |
N95I |
probably benign |
Het |
| Melk |
A |
G |
4: 44,318,109 (GRCm39) |
Y170C |
probably damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,327,282 (GRCm39) |
D123E |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,284,575 (GRCm39) |
Y827F |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,963,302 (GRCm39) |
M1081K |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,318,954 (GRCm39) |
T1998A |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,176,029 (GRCm39) |
T1477S |
possibly damaging |
Het |
| Nox4 |
C |
A |
7: 87,019,255 (GRCm39) |
P416Q |
probably damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,308 (GRCm39) |
S246P |
probably damaging |
Het |
| Or1e31 |
T |
C |
11: 73,689,822 (GRCm39) |
T254A |
probably benign |
Het |
| Or2j3 |
A |
T |
17: 38,616,101 (GRCm39) |
F84I |
probably benign |
Het |
| Or4c123 |
A |
T |
2: 89,127,540 (GRCm39) |
F25I |
possibly damaging |
Het |
| Or5g23 |
T |
C |
2: 85,439,234 (GRCm39) |
T7A |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,819,308 (GRCm39) |
K286E |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,193,604 (GRCm39) |
T679A |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,603,433 (GRCm39) |
Q188* |
probably null |
Het |
| Pramel12 |
C |
A |
4: 143,144,208 (GRCm39) |
Q185K |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,636,807 (GRCm39) |
M170T |
probably benign |
Het |
| Rab20 |
G |
T |
8: 11,504,443 (GRCm39) |
Q86K |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,102,222 (GRCm39) |
I714V |
possibly damaging |
Het |
| Rexo2 |
A |
G |
9: 48,386,418 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,293,473 (GRCm39) |
K75E |
|
Het |
| Sdk2 |
C |
T |
11: 113,745,177 (GRCm39) |
R706Q |
probably damaging |
Het |
| Sema3c |
C |
T |
5: 17,860,020 (GRCm39) |
T95I |
probably benign |
Het |
| Sh3rf2 |
T |
A |
18: 42,286,087 (GRCm39) |
S527T |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,856,901 (GRCm39) |
Y434* |
probably null |
Het |
| Slc16a6 |
G |
A |
11: 109,349,395 (GRCm39) |
T222I |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,927,789 (GRCm39) |
L173P |
probably damaging |
Het |
| Sugct |
T |
A |
13: 17,476,554 (GRCm39) |
N310I |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,002,658 (GRCm39) |
K259* |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,861,144 (GRCm39) |
V134A |
possibly damaging |
Het |
| Tmem199 |
A |
G |
11: 78,398,612 (GRCm39) |
I184T |
possibly damaging |
Het |
| Tnrc18 |
G |
T |
5: 142,736,385 (GRCm39) |
D1530E |
unknown |
Het |
| Tnxb |
G |
A |
17: 34,923,153 (GRCm39) |
V2579M |
probably damaging |
Het |
| Vangl2 |
A |
G |
1: 171,832,303 (GRCm39) |
F518L |
probably damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,911,245 (GRCm39) |
T683A |
|
Het |
| Wapl |
C |
T |
14: 34,414,278 (GRCm39) |
T380I |
probably damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,217 (GRCm39) |
H360Q |
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 |
|
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'- CTGTTGAGCTGAAGGAAGGC -3'
(R):5'- AGTTTCTACTCATTTGCAGCAGG -3'
Sequencing Primer
(F):5'- GCACAGCTGCACAAGTCTG -3'
(R):5'- ATTAACCTGTGAGTACTCGGCCTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation