Incidental Mutation 'R5849:Aopep'
ID |
453800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aopep
|
Ensembl Gene |
ENSMUSG00000021458 |
Gene Name |
aminopeptidase O |
Synonyms |
2010111I01Rik, ApO |
MMRRC Submission |
044066-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R5849 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63163312 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 111
(D111G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021911
AA Change: D111G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021911 Gene: ENSMUSG00000021458 AA Change: D111G
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: D111G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000089148 Gene: ENSMUSG00000021458 AA Change: D111G
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: D2G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222181
|
Meta Mutation Damage Score |
0.0580 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
96% (72/75) |
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 |
4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Agbl1 |
T |
C |
7: 75,974,846 (GRCm39) |
S113P |
probably benign |
Het |
Ak9 |
A |
G |
10: 41,224,045 (GRCm39) |
D486G |
probably benign |
Het |
Arhgap11a |
T |
C |
2: 113,665,192 (GRCm39) |
S469G |
probably null |
Het |
Comtd1 |
C |
T |
14: 21,898,188 (GRCm39) |
G48D |
probably damaging |
Het |
Cyp27a1 |
T |
C |
1: 74,775,843 (GRCm39) |
S343P |
probably damaging |
Het |
Dcun1d1 |
T |
A |
3: 35,970,333 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,744,223 (GRCm39) |
I1404T |
possibly damaging |
Het |
Dlgap5 |
A |
G |
14: 47,626,892 (GRCm39) |
S766P |
possibly damaging |
Het |
Ebf1 |
T |
A |
11: 44,881,331 (GRCm39) |
|
probably null |
Het |
Flcn |
T |
A |
11: 59,695,586 (GRCm39) |
I4L |
probably damaging |
Het |
Gm57858 |
A |
T |
3: 36,087,026 (GRCm39) |
D189E |
possibly damaging |
Het |
Grin2c |
T |
C |
11: 115,151,817 (GRCm39) |
T48A |
probably benign |
Het |
Hyal5 |
T |
A |
6: 24,891,555 (GRCm39) |
S456R |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,781 (GRCm39) |
D696G |
probably benign |
Het |
Iqgap1 |
A |
T |
7: 80,452,906 (GRCm39) |
V13D |
probably benign |
Het |
Itgal |
A |
G |
7: 126,916,492 (GRCm39) |
N728S |
probably benign |
Het |
Kcnb1 |
T |
A |
2: 166,947,946 (GRCm39) |
I301F |
probably damaging |
Het |
Kcnd3 |
A |
G |
3: 105,366,111 (GRCm39) |
|
probably benign |
Het |
Kdm4a |
C |
T |
4: 118,019,037 (GRCm39) |
R393Q |
probably benign |
Het |
Lcn9 |
G |
A |
2: 25,713,268 (GRCm39) |
|
probably null |
Het |
Madcam1 |
T |
A |
10: 79,500,824 (GRCm39) |
M47K |
probably benign |
Het |
Matn3 |
A |
G |
12: 9,008,829 (GRCm39) |
Q314R |
probably benign |
Het |
Msh3 |
A |
T |
13: 92,386,386 (GRCm39) |
D826E |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,595,213 (GRCm39) |
T3088S |
possibly damaging |
Het |
Mup3 |
T |
G |
4: 62,005,172 (GRCm39) |
|
probably null |
Het |
Myo15b |
A |
G |
11: 115,772,759 (GRCm39) |
K1807E |
probably damaging |
Het |
Myrip |
A |
G |
9: 120,282,759 (GRCm39) |
D688G |
probably damaging |
Het |
Nup153 |
A |
G |
13: 46,840,452 (GRCm39) |
F1052S |
probably damaging |
Het |
Oplah |
T |
A |
15: 76,181,547 (GRCm39) |
|
probably benign |
Het |
Or4f14d |
A |
T |
2: 111,960,223 (GRCm39) |
I311K |
probably benign |
Het |
Or52r1c |
T |
A |
7: 102,734,728 (GRCm39) |
M1K |
probably null |
Het |
Or6z3 |
A |
T |
7: 6,463,993 (GRCm39) |
I162F |
possibly damaging |
Het |
Or9g19 |
A |
T |
2: 85,600,768 (GRCm39) |
I208F |
probably benign |
Het |
Pacsin2 |
A |
G |
15: 83,274,719 (GRCm39) |
F120L |
possibly damaging |
Het |
Ppp1r36 |
C |
A |
12: 76,485,931 (GRCm39) |
P363Q |
probably damaging |
Het |
Rai1 |
C |
A |
11: 60,081,347 (GRCm39) |
H1804N |
possibly damaging |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Rnf214 |
G |
A |
9: 45,779,386 (GRCm39) |
P455S |
probably damaging |
Het |
Rnf220 |
T |
C |
4: 117,134,809 (GRCm39) |
T188A |
possibly damaging |
Het |
S1pr4 |
C |
T |
10: 81,335,157 (GRCm39) |
V106M |
possibly damaging |
Het |
Sall2 |
C |
A |
14: 52,551,704 (GRCm39) |
S495I |
probably benign |
Het |
Sars2 |
A |
G |
7: 28,443,683 (GRCm39) |
E95G |
possibly damaging |
Het |
Sema3f |
G |
A |
9: 107,559,815 (GRCm39) |
T693M |
probably damaging |
Het |
Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
Snrpe |
T |
A |
1: 133,536,652 (GRCm39) |
I43L |
probably benign |
Het |
Srsf1 |
T |
C |
11: 87,938,684 (GRCm39) |
I7T |
possibly damaging |
Het |
Ssbp1 |
T |
A |
6: 40,453,837 (GRCm39) |
|
probably benign |
Het |
Stbd1 |
T |
G |
5: 92,752,854 (GRCm39) |
F115V |
probably benign |
Het |
Stk11ip |
T |
A |
1: 75,503,999 (GRCm39) |
|
probably null |
Het |
Taf1b |
T |
A |
12: 24,550,524 (GRCm39) |
N36K |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,630,248 (GRCm39) |
M743L |
probably benign |
Het |
Tnfsf12 |
C |
A |
11: 69,577,793 (GRCm39) |
R208L |
probably damaging |
Het |
Trafd1 |
T |
C |
5: 121,511,534 (GRCm39) |
D428G |
probably damaging |
Het |
Trim24 |
A |
G |
6: 37,934,664 (GRCm39) |
E793G |
probably damaging |
Het |
Tspan32 |
T |
C |
7: 142,569,324 (GRCm39) |
C100R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,576,586 (GRCm39) |
D16442G |
probably damaging |
Het |
Ube3c |
T |
A |
5: 29,863,407 (GRCm39) |
L894Q |
probably damaging |
Het |
Wfs1 |
C |
G |
5: 37,130,608 (GRCm39) |
G213R |
probably damaging |
Het |
Zfp384 |
G |
A |
6: 125,001,062 (GRCm39) |
A45T |
possibly damaging |
Het |
Zfp865 |
G |
T |
7: 5,034,086 (GRCm39) |
K690N |
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 |
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'- TCATTGAGGGCAACATAGTGC -3'
(R):5'- GTAAATTTCTCAAGGCCTGGCAC -3'
Sequencing Primer
(F):5'- CATTGAGGGCAACATAGTGCTTTTC -3'
(R):5'- GCACAGCAGCCACATCC -3'
|
Posted On |
2017-02-10 |