Incidental Mutation 'R3912:Aopep'
| ID |
309478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aopep
|
| Ensembl Gene |
ENSMUSG00000021458 |
| Gene Name |
aminopeptidase O |
| Synonyms |
2010111I01Rik, ApO |
| MMRRC Submission |
040910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R3912 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 63304520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 402
(E402*)
|
| 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: E510*
|
| SMART Domains |
Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: E510*
| 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: E511*
|
| SMART Domains |
Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: E511*
| 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 |
probably null
Transcript: ENSMUST00000220863
AA Change: E402*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221676
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222907
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
A |
G |
12: 84,063,806 (GRCm39) |
S305G |
probably damaging |
Het |
| Acot12 |
A |
G |
13: 91,918,208 (GRCm39) |
D167G |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,425,630 (GRCm39) |
|
probably null |
Het |
| Adh7 |
T |
A |
3: 137,927,541 (GRCm39) |
V29E |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,448,015 (GRCm39) |
K103E |
probably damaging |
Het |
| Camkk1 |
A |
G |
11: 72,924,642 (GRCm39) |
D285G |
probably benign |
Het |
| Ccdc158 |
G |
C |
5: 92,796,794 (GRCm39) |
T514S |
possibly damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,853,770 (GRCm39) |
D210V |
probably damaging |
Het |
| Cndp1 |
C |
T |
18: 84,650,124 (GRCm39) |
D190N |
probably benign |
Het |
| Eepd1 |
C |
T |
9: 25,394,600 (GRCm39) |
T288M |
probably damaging |
Het |
| Erbin |
G |
T |
13: 103,998,795 (GRCm39) |
T197K |
probably benign |
Het |
| Erbin |
G |
A |
13: 104,022,846 (GRCm39) |
|
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gbp3 |
C |
T |
3: 142,272,099 (GRCm39) |
|
probably benign |
Het |
| Gm14326 |
T |
C |
2: 177,587,658 (GRCm39) |
K446R |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,748,185 (GRCm39) |
Y518H |
probably damaging |
Het |
| Id2 |
T |
A |
12: 25,145,871 (GRCm39) |
K47* |
probably null |
Het |
| Ilf2 |
A |
G |
3: 90,394,367 (GRCm39) |
N295S |
probably benign |
Het |
| Ilf3 |
C |
T |
9: 21,309,422 (GRCm39) |
A526V |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc7 |
G |
A |
3: 157,997,589 (GRCm39) |
L158F |
probably damaging |
Het |
| Mroh9 |
C |
T |
1: 162,893,638 (GRCm39) |
C179Y |
probably damaging |
Het |
| Mrps18b |
C |
T |
17: 36,221,831 (GRCm39) |
V165I |
probably benign |
Het |
| Myrip |
A |
G |
9: 120,261,682 (GRCm39) |
S432G |
probably benign |
Het |
| Nutm2 |
C |
T |
13: 50,626,976 (GRCm39) |
A377V |
possibly damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Pate4 |
C |
A |
9: 35,523,140 (GRCm39) |
M1I |
probably null |
Het |
| Pax7 |
C |
A |
4: 139,508,209 (GRCm39) |
W272L |
probably benign |
Het |
| Ppp1r12b |
C |
T |
1: 134,815,056 (GRCm39) |
E320K |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,327,619 (GRCm39) |
Y278C |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,643,217 (GRCm39) |
N339D |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,787,313 (GRCm39) |
I1020T |
probably damaging |
Het |
| Scn4a |
T |
A |
11: 106,211,542 (GRCm39) |
I1492F |
probably damaging |
Het |
| Sec16a |
C |
T |
2: 26,304,399 (GRCm39) |
G2304D |
probably damaging |
Het |
| Shisa7 |
T |
A |
7: 4,833,239 (GRCm39) |
R341* |
probably null |
Het |
| Slc19a3 |
T |
A |
1: 83,000,424 (GRCm39) |
M198L |
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,863,753 (GRCm39) |
N669Y |
possibly damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,673,362 (GRCm39) |
F392S |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,674,610 (GRCm39) |
T534A |
possibly damaging |
Het |
| Susd4 |
A |
T |
1: 182,715,031 (GRCm39) |
Y284F |
probably damaging |
Het |
| Tas1r1 |
A |
T |
4: 152,116,381 (GRCm39) |
Y418N |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,187,138 (GRCm39) |
I584T |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Vmn1r39 |
C |
T |
6: 66,782,125 (GRCm39) |
M27I |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,744 (GRCm39) |
T223A |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,646,039 (GRCm39) |
I469T |
probably damaging |
Het |
| Wnt3a |
A |
C |
11: 59,140,828 (GRCm39) |
D229E |
possibly 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 |
|
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 |
|
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'- GTGATTTATTCAGCAAACATAGTGC -3'
Sequencing Primer
(F):5'- GGTGCTAACAAGACTCCACGTG -3'
(R):5'- ACATAGTGCTTAGTACACACAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation