Incidental Mutation 'R5960:Aopep'
| ID |
471428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aopep
|
| Ensembl Gene |
ENSMUSG00000021458 |
| Gene Name |
aminopeptidase O |
| Synonyms |
2010111I01Rik, ApO |
| MMRRC Submission |
044147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5960 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63388087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 22
(R22Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
[ENSMUST00000220884]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021911
AA Change: R689Q
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: R689Q
| 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 benign
Transcript: ENSMUST00000091560
AA Change: R690Q
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: R690Q
| 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: ENSMUST00000159152
AA Change: R33Q
|
| SMART Domains |
Protein: ENSMUSP00000124560
Gene: ENSMUSG00000021458
AA Change: R33Q
| Domain | Start | End | E-Value | Type |
|---|
|
Leuk-A4-hydro_C
|
1 |
113 |
4.63e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220806
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220863
AA Change: R581Q
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220884
AA Change: R22Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221820
AA Change: R26Q
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222929
AA Change: R48Q
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223185
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221676
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222282
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
| Validation Efficiency |
99% (71/72) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,528 (GRCm39) |
T30A |
possibly damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,233 (GRCm39) |
M197V |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,489 (GRCm39) |
T210A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,648,178 (GRCm39) |
S886R |
possibly damaging |
Het |
| Atg2a |
T |
G |
19: 6,304,390 (GRCm39) |
F1136V |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,835,760 (GRCm39) |
T72S |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,717,869 (GRCm39) |
T219A |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,884,208 (GRCm39) |
|
probably benign |
Het |
| Cdh12 |
A |
G |
15: 21,492,562 (GRCm39) |
|
probably null |
Het |
| Cfap126 |
A |
G |
1: 170,952,882 (GRCm39) |
D45G |
probably damaging |
Het |
| Ciz1 |
C |
A |
2: 32,261,228 (GRCm39) |
Q356K |
possibly damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,194,058 (GRCm39) |
I407N |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,121,430 (GRCm39) |
E1756K |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,411,404 (GRCm39) |
K94E |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,023,193 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,465,807 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,788,554 (GRCm39) |
G138* |
probably null |
Het |
| Fam20a |
G |
A |
11: 109,566,795 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
G |
7: 79,093,510 (GRCm39) |
T1006A |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,405 (GRCm39) |
Y3320H |
probably damaging |
Het |
| Fndc8 |
A |
G |
11: 82,788,398 (GRCm39) |
D76G |
probably benign |
Het |
| Gm19965 |
T |
C |
1: 116,749,201 (GRCm39) |
I294T |
possibly damaging |
Het |
| Gm9755 |
T |
G |
8: 67,967,840 (GRCm39) |
|
noncoding transcript |
Het |
| Iars1 |
T |
C |
13: 49,878,113 (GRCm39) |
V879A |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,466,382 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
T |
C |
16: 96,227,459 (GRCm39) |
H528R |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,970,281 (GRCm39) |
Q146R |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,567,731 (GRCm39) |
T407A |
probably benign |
Het |
| Mtg1 |
T |
C |
7: 139,726,906 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,402,724 (GRCm39) |
S1317A |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,115,865 (GRCm39) |
V933A |
probably damaging |
Het |
| Nudt16 |
A |
T |
9: 105,008,698 (GRCm39) |
C63S |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,625,915 (GRCm39) |
I49V |
probably null |
Het |
| Or51a24 |
G |
T |
7: 103,733,560 (GRCm39) |
N242K |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,069 (GRCm39) |
S267T |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,495 (GRCm39) |
S671P |
possibly damaging |
Het |
| Paox |
A |
G |
7: 139,712,402 (GRCm39) |
D211G |
probably benign |
Het |
| Pck2 |
A |
G |
14: 55,786,004 (GRCm39) |
T571A |
possibly damaging |
Het |
| Pigg |
A |
G |
5: 108,484,160 (GRCm39) |
E469G |
probably benign |
Het |
| Pikfyve |
C |
A |
1: 65,292,597 (GRCm39) |
Y1349* |
probably null |
Het |
| Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
| Prpf40b |
G |
T |
15: 99,212,785 (GRCm39) |
R627L |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,903,437 (GRCm39) |
I1217V |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,387,751 (GRCm39) |
V457D |
probably damaging |
Het |
| Rex1bd |
C |
A |
8: 70,959,156 (GRCm39) |
R49L |
probably null |
Het |
| Robo2 |
A |
T |
16: 73,730,603 (GRCm39) |
L1003Q |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,446,144 (GRCm39) |
D2730G |
probably benign |
Het |
| Setd6 |
T |
A |
8: 96,442,827 (GRCm39) |
L88H |
probably damaging |
Het |
| Smim35 |
T |
C |
9: 45,154,288 (GRCm39) |
Y50H |
probably damaging |
Het |
| Sncb |
A |
G |
13: 54,910,795 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,225 (GRCm39) |
H985L |
probably benign |
Het |
| Spmap2 |
T |
G |
10: 79,421,765 (GRCm39) |
K151T |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,530,442 (GRCm39) |
E2233G |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,475,770 (GRCm39) |
V410I |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,494 (GRCm39) |
S281P |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,100,598 (GRCm39) |
R330C |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,915 (GRCm39) |
D741V |
probably benign |
Het |
| Tph1 |
A |
G |
7: 46,311,429 (GRCm39) |
|
probably null |
Het |
| Trav7-5 |
T |
A |
14: 53,768,706 (GRCm39) |
H91Q |
probably benign |
Het |
| Tymp |
A |
T |
15: 89,260,778 (GRCm39) |
|
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
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 |
|
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'- TCGGTGAACTTGACTTGTTCTC -3'
(R):5'- CCCACACAAGTAAAGCTTTCTTGC -3'
Sequencing Primer
(F):5'- GAACTTGACTTGTTCTCCCCACAG -3'
(R):5'- CTTTCTTGCTGGAAAGCACAAACTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation