Incidental Mutation 'R6021:Aopep'
| ID |
478960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aopep
|
| Ensembl Gene |
ENSMUSG00000021458 |
| Gene Name |
aminopeptidase O |
| Synonyms |
2010111I01Rik, ApO |
| MMRRC Submission |
044194-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63208896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 338
(T338A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021911
AA Change: T336A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: T336A
| 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 damaging
Transcript: ENSMUST00000091560
AA Change: T338A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: T338A
| 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: T229A
|
| Meta Mutation Damage Score |
0.6030 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
| Validation Efficiency |
94% (61/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
G |
4: 123,754,509 (GRCm39) |
D141G |
possibly damaging |
Het |
| A1bg |
T |
C |
15: 60,791,713 (GRCm39) |
E241G |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,240,465 (GRCm39) |
W776* |
probably null |
Het |
| Akr1b10 |
T |
A |
6: 34,369,309 (GRCm39) |
|
probably null |
Het |
| Atf7 |
T |
C |
15: 102,465,908 (GRCm39) |
D84G |
probably benign |
Het |
| AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
| Azi2 |
T |
A |
9: 117,876,487 (GRCm39) |
M1K |
probably null |
Het |
| Boc |
T |
A |
16: 44,309,017 (GRCm39) |
M832L |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,034,225 (GRCm39) |
L1050P |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,308,561 (GRCm39) |
P1789T |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,903,282 (GRCm39) |
R1986C |
probably damaging |
Het |
| Crtam |
T |
A |
9: 40,901,477 (GRCm39) |
I150F |
probably damaging |
Het |
| Crybg1 |
G |
T |
10: 43,873,534 (GRCm39) |
S1191R |
probably damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,167,552 (GRCm39) |
T1017A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,814,048 (GRCm39) |
E396G |
probably damaging |
Het |
| Enpp5 |
A |
T |
17: 44,396,210 (GRCm39) |
Y374F |
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,056,942 (GRCm39) |
A330T |
probably benign |
Het |
| Gabra5 |
A |
G |
7: 57,157,740 (GRCm39) |
S25P |
probably benign |
Het |
| Get1 |
T |
C |
16: 95,946,878 (GRCm39) |
|
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,589 (GRCm39) |
Y198C |
probably damaging |
Het |
| Gm3173 |
A |
C |
14: 15,728,458 (GRCm39) |
D39A |
probably damaging |
Het |
| Grm2 |
T |
C |
9: 106,527,999 (GRCm39) |
D295G |
probably damaging |
Het |
| H2-T13 |
T |
G |
17: 36,392,166 (GRCm39) |
E182A |
probably damaging |
Het |
| Igfbp5 |
A |
G |
1: 72,902,363 (GRCm39) |
M208T |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,131,173 (GRCm39) |
M343K |
possibly damaging |
Het |
| Kif19b |
A |
T |
5: 140,455,434 (GRCm39) |
M347L |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,499,946 (GRCm39) |
D120V |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,413,883 (GRCm39) |
D1175G |
probably damaging |
Het |
| Lrp1b |
C |
A |
2: 41,234,439 (GRCm39) |
D1171Y |
probably benign |
Het |
| Lrrc9 |
A |
T |
12: 72,516,005 (GRCm39) |
I563F |
probably damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,803,708 (GRCm39) |
T798S |
probably benign |
Het |
| Msantd4 |
T |
A |
9: 4,384,063 (GRCm39) |
V128E |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,229,003 (GRCm39) |
I69V |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,699,688 (GRCm39) |
S1712T |
possibly damaging |
Het |
| Mylk3 |
A |
G |
8: 86,091,442 (GRCm39) |
V121A |
possibly damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,901,760 (GRCm39) |
N100D |
probably benign |
Het |
| Notch2 |
T |
C |
3: 98,029,288 (GRCm39) |
F1017S |
probably damaging |
Het |
| Or4a27 |
G |
T |
2: 88,559,294 (GRCm39) |
Y216* |
probably null |
Het |
| Or4a80 |
A |
C |
2: 89,582,465 (GRCm39) |
S236A |
probably benign |
Het |
| Or4c108 |
G |
T |
2: 88,803,376 (GRCm39) |
Y286* |
probably null |
Het |
| P2ry2 |
T |
C |
7: 100,647,607 (GRCm39) |
T233A |
probably benign |
Het |
| Paip1 |
T |
"TTA,TT" |
13: 119,593,671 (GRCm39) |
|
probably null |
Het |
| Pak1 |
T |
C |
7: 97,503,670 (GRCm39) |
S2P |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,162,670 (GRCm39) |
D817E |
possibly damaging |
Het |
| Pfdn2 |
C |
A |
1: 171,173,338 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
A |
T |
4: 143,692,336 (GRCm39) |
C222S |
probably benign |
Het |
| Raver1 |
A |
G |
9: 20,987,918 (GRCm39) |
L606P |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,333,829 (GRCm39) |
W668* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
A |
G |
5: 149,987,202 (GRCm39) |
N337S |
possibly damaging |
Het |
| Samhd1 |
T |
C |
2: 156,962,474 (GRCm39) |
|
probably null |
Het |
| Sardh |
A |
G |
2: 27,079,655 (GRCm39) |
V879A |
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,188,261 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,207,012 (GRCm39) |
L332P |
probably damaging |
Het |
| Tas2r135 |
T |
C |
6: 42,383,321 (GRCm39) |
Y287H |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,759,103 (GRCm39) |
I632N |
probably damaging |
Het |
| Tmem145 |
C |
T |
7: 25,008,270 (GRCm39) |
|
probably null |
Het |
| Trmt61a |
C |
A |
12: 111,647,411 (GRCm39) |
F169L |
probably damaging |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,391 (GRCm39) |
I95L |
probably benign |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,616 (GRCm39) |
E176G |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,820,820 (GRCm39) |
D38G |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,598,210 (GRCm39) |
Y78C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,742 (GRCm39) |
S114I |
unknown |
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 |
|
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'- CTCCTTGGCTGCTTCAAAGTAG -3'
(R):5'- TGATTAGGTCCAAACTGGCC -3'
Sequencing Primer
(F):5'- GTCCTTTCAGGTGGCATGACC -3'
(R):5'- CCAGGTTCTCAGCAAGTGACTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation