Incidental Mutation 'R9037:Mpo'
ID |
726259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpo
|
Ensembl Gene |
ENSMUSG00000009350 |
Gene Name |
myeloperoxidase |
Synonyms |
|
MMRRC Submission |
068969-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9037 (G1)
|
Quality Score |
182.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87684610-87695238 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 87688557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128484
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020779]
[ENSMUST00000107930]
[ENSMUST00000121303]
[ENSMUST00000143021]
[ENSMUST00000146650]
|
AlphaFold |
P11247 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020779
|
SMART Domains |
Protein: ENSMUSP00000020779 Gene: ENSMUSG00000009350
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:An_peroxidase
|
147 |
692 |
4.2e-183 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107930
|
SMART Domains |
Protein: ENSMUSP00000103563 Gene: ENSMUSG00000009350
Domain | Start | End | E-Value | Type |
SCOP:g1cxp.1
|
82 |
99 |
1e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121303
|
SMART Domains |
Protein: ENSMUSP00000112837 Gene: ENSMUSG00000009350
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:An_peroxidase
|
147 |
692 |
4.2e-183 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143021
|
SMART Domains |
Protein: ENSMUSP00000123371 Gene: ENSMUSG00000009350
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
PDB:4C1M|B
|
139 |
167 |
4e-11 |
PDB |
SCOP:g1cxp.1
|
141 |
167 |
4e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146650
|
SMART Domains |
Protein: ENSMUSP00000128484 Gene: ENSMUSG00000009350
Domain | Start | End | E-Value | Type |
Pfam:An_peroxidase
|
1 |
112 |
2.4e-32 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (66/66) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014] PHENOTYPE: Homozygous inactivation of this gene causes neutrophil dysfunction and decreased resistance to fungal infection with Candida, and may lead to enhanced atherosclerosis, reduced neutrophil-mediated lysis of muscle cells, decreased resistance to EAE, and altered asbestos-induced lung inflammation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
T |
A |
18: 61,952,066 (GRCm39) |
I432F |
probably benign |
Het |
Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
A |
G |
11: 7,087,325 (GRCm39) |
T400A |
possibly damaging |
Het |
Afap1l2 |
A |
T |
19: 56,918,403 (GRCm39) |
|
probably benign |
Het |
Anapc4 |
C |
A |
5: 53,021,843 (GRCm39) |
Q642K |
probably benign |
Het |
Ano8 |
A |
G |
8: 71,937,088 (GRCm39) |
F160S |
probably damaging |
Het |
Apob |
T |
C |
12: 8,066,501 (GRCm39) |
V4490A |
probably benign |
Het |
Bcar1 |
A |
C |
8: 112,447,522 (GRCm39) |
F152V |
probably benign |
Het |
Cacna2d2 |
A |
G |
9: 107,386,395 (GRCm39) |
D174G |
probably benign |
Het |
Capn11 |
T |
C |
17: 45,950,357 (GRCm39) |
K328R |
probably benign |
Het |
Colq |
C |
A |
14: 31,279,744 (GRCm39) |
|
probably benign |
Het |
Coro1a |
A |
C |
7: 126,299,772 (GRCm39) |
M350R |
probably benign |
Het |
Ctbp1 |
T |
A |
5: 33,424,352 (GRCm39) |
M24L |
probably benign |
Het |
Cyp2c55 |
T |
A |
19: 39,030,537 (GRCm39) |
F456L |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,248,104 (GRCm39) |
K747M |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,803,791 (GRCm39) |
D3048G |
unknown |
Het |
Esp36 |
C |
T |
17: 38,729,840 (GRCm39) |
G60D |
unknown |
Het |
Gast |
A |
G |
11: 100,227,436 (GRCm39) |
E43G |
probably damaging |
Het |
Gm5849 |
T |
G |
3: 90,685,155 (GRCm39) |
N10T |
probably benign |
Het |
Gulp1 |
T |
C |
1: 44,793,524 (GRCm39) |
S62P |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,832,665 (GRCm39) |
D903G |
possibly damaging |
Het |
Hk2 |
T |
A |
6: 82,720,339 (GRCm39) |
I201F |
probably benign |
Het |
Ifna2 |
T |
C |
4: 88,601,664 (GRCm39) |
D118G |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,420,400 (GRCm39) |
K1079E |
possibly damaging |
Het |
Igsf9 |
T |
C |
1: 172,312,081 (GRCm39) |
V9A |
probably benign |
Het |
Ints2 |
G |
A |
11: 86,106,530 (GRCm39) |
T960I |
probably benign |
Het |
Klk12 |
T |
C |
7: 43,419,139 (GRCm39) |
W35R |
probably damaging |
Het |
Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,365,518 (GRCm39) |
N3081S |
probably benign |
Het |
Mal2 |
A |
G |
15: 54,434,939 (GRCm39) |
N12S |
unknown |
Het |
Mgat1 |
T |
G |
11: 49,152,256 (GRCm39) |
N246K |
probably damaging |
Het |
Mpeg1 |
T |
A |
19: 12,439,190 (GRCm39) |
V216E |
probably damaging |
Het |
Mtmr9 |
T |
A |
14: 63,761,532 (GRCm39) |
T541S |
possibly damaging |
Het |
Or4a73 |
C |
T |
2: 89,421,051 (GRCm39) |
R136Q |
probably benign |
Het |
Or51b6b |
T |
A |
7: 103,310,382 (GRCm39) |
H25L |
probably benign |
Het |
Or5ak25 |
T |
C |
2: 85,269,139 (GRCm39) |
D121G |
possibly damaging |
Het |
Or8k3 |
G |
T |
2: 86,059,042 (GRCm39) |
T91K |
probably benign |
Het |
P2rx6 |
A |
G |
16: 17,388,307 (GRCm39) |
T328A |
possibly damaging |
Het |
Pcdhb12 |
A |
C |
18: 37,569,229 (GRCm39) |
E125A |
probably benign |
Het |
Pde3a |
C |
A |
6: 141,416,832 (GRCm39) |
Q569K |
probably damaging |
Het |
Pepd |
A |
T |
7: 34,720,398 (GRCm39) |
Q227L |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,225,902 (GRCm39) |
E911D |
probably benign |
Het |
Pnpla6 |
A |
T |
8: 3,592,379 (GRCm39) |
R1241* |
probably null |
Het |
Pold1 |
T |
C |
7: 44,188,339 (GRCm39) |
D513G |
probably damaging |
Het |
Polr1d |
A |
T |
5: 147,015,490 (GRCm39) |
I58L |
probably benign |
Het |
Ppif |
T |
C |
14: 25,694,828 (GRCm39) |
L58P |
probably damaging |
Het |
Preb |
T |
C |
5: 31,116,590 (GRCm39) |
K101R |
probably benign |
Het |
Psma8 |
G |
T |
18: 14,854,251 (GRCm39) |
V44L |
probably benign |
Het |
Ptf1a |
A |
G |
2: 19,451,036 (GRCm39) |
Y122C |
possibly damaging |
Het |
Ranbp6 |
T |
C |
19: 29,790,317 (GRCm39) |
T12A |
probably benign |
Het |
Rasal3 |
C |
A |
17: 32,614,094 (GRCm39) |
R587L |
probably benign |
Het |
Rnf146 |
T |
C |
10: 29,223,676 (GRCm39) |
K70R |
probably benign |
Het |
Serpinb6b |
G |
T |
13: 33,161,998 (GRCm39) |
E266* |
probably null |
Het |
Slc15a2 |
A |
T |
16: 36,582,725 (GRCm39) |
M252K |
probably benign |
Het |
Slc2a1 |
T |
C |
4: 118,993,494 (GRCm39) |
F444L |
probably damaging |
Het |
Sox9 |
A |
G |
11: 112,675,650 (GRCm39) |
S280G |
probably damaging |
Het |
Spata31e4 |
A |
G |
13: 50,856,944 (GRCm39) |
K861E |
probably benign |
Het |
Trappc8 |
A |
G |
18: 20,961,539 (GRCm39) |
V1243A |
probably benign |
Het |
Trpv2 |
A |
T |
11: 62,475,231 (GRCm39) |
T215S |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,299,981 (GRCm39) |
E490G |
probably damaging |
Het |
Ush2a |
A |
T |
1: 187,995,487 (GRCm39) |
D86V |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,236,251 (GRCm39) |
T980A |
probably damaging |
Het |
Vwa7 |
T |
C |
17: 35,236,268 (GRCm39) |
V74A |
probably benign |
Het |
Zan |
A |
G |
5: 137,452,578 (GRCm39) |
V1501A |
unknown |
Het |
Zfp105 |
A |
G |
9: 122,758,836 (GRCm39) |
E169G |
possibly damaging |
Het |
Zfp788 |
C |
T |
7: 41,298,315 (GRCm39) |
T317I |
probably damaging |
Het |
|
Other mutations in Mpo |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Mpo
|
APN |
11 |
87,693,443 (GRCm39) |
missense |
probably benign |
|
IGL00668:Mpo
|
APN |
11 |
87,688,160 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01016:Mpo
|
APN |
11 |
87,688,436 (GRCm39) |
splice site |
probably null |
|
IGL01517:Mpo
|
APN |
11 |
87,686,647 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01530:Mpo
|
APN |
11 |
87,692,017 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02123:Mpo
|
APN |
11 |
87,685,621 (GRCm39) |
missense |
probably benign |
0.05 |
BB001:Mpo
|
UTSW |
11 |
87,685,666 (GRCm39) |
missense |
probably damaging |
1.00 |
BB011:Mpo
|
UTSW |
11 |
87,685,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:Mpo
|
UTSW |
11 |
87,692,436 (GRCm39) |
missense |
probably benign |
0.06 |
R0458:Mpo
|
UTSW |
11 |
87,687,123 (GRCm39) |
missense |
probably benign |
0.35 |
R0506:Mpo
|
UTSW |
11 |
87,694,330 (GRCm39) |
missense |
probably benign |
0.00 |
R0574:Mpo
|
UTSW |
11 |
87,686,902 (GRCm39) |
missense |
probably damaging |
0.99 |
R0850:Mpo
|
UTSW |
11 |
87,688,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R1488:Mpo
|
UTSW |
11 |
87,688,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R1753:Mpo
|
UTSW |
11 |
87,686,707 (GRCm39) |
missense |
probably benign |
0.06 |
R1785:Mpo
|
UTSW |
11 |
87,688,187 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1891:Mpo
|
UTSW |
11 |
87,692,106 (GRCm39) |
nonsense |
probably null |
|
R1989:Mpo
|
UTSW |
11 |
87,694,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R2107:Mpo
|
UTSW |
11 |
87,686,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R2108:Mpo
|
UTSW |
11 |
87,686,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R2130:Mpo
|
UTSW |
11 |
87,688,187 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2132:Mpo
|
UTSW |
11 |
87,688,187 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3930:Mpo
|
UTSW |
11 |
87,691,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R3931:Mpo
|
UTSW |
11 |
87,691,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R3941:Mpo
|
UTSW |
11 |
87,688,175 (GRCm39) |
missense |
probably benign |
0.02 |
R4323:Mpo
|
UTSW |
11 |
87,686,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R4857:Mpo
|
UTSW |
11 |
87,687,107 (GRCm39) |
missense |
probably benign |
|
R4892:Mpo
|
UTSW |
11 |
87,693,507 (GRCm39) |
missense |
probably benign |
0.00 |
R5224:Mpo
|
UTSW |
11 |
87,687,283 (GRCm39) |
unclassified |
probably benign |
|
R5250:Mpo
|
UTSW |
11 |
87,694,259 (GRCm39) |
missense |
probably benign |
0.03 |
R5373:Mpo
|
UTSW |
11 |
87,694,437 (GRCm39) |
critical splice donor site |
probably null |
|
R5374:Mpo
|
UTSW |
11 |
87,694,437 (GRCm39) |
critical splice donor site |
probably null |
|
R5408:Mpo
|
UTSW |
11 |
87,691,851 (GRCm39) |
splice site |
probably null |
|
R5708:Mpo
|
UTSW |
11 |
87,692,581 (GRCm39) |
splice site |
probably null |
|
R6354:Mpo
|
UTSW |
11 |
87,688,172 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6598:Mpo
|
UTSW |
11 |
87,690,798 (GRCm39) |
missense |
probably benign |
0.43 |
R6713:Mpo
|
UTSW |
11 |
87,686,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R7053:Mpo
|
UTSW |
11 |
87,694,336 (GRCm39) |
missense |
probably damaging |
0.99 |
R7395:Mpo
|
UTSW |
11 |
87,691,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R7573:Mpo
|
UTSW |
11 |
87,688,403 (GRCm39) |
missense |
probably benign |
0.01 |
R7924:Mpo
|
UTSW |
11 |
87,685,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R8152:Mpo
|
UTSW |
11 |
87,692,475 (GRCm39) |
missense |
probably benign |
|
R8285:Mpo
|
UTSW |
11 |
87,688,393 (GRCm39) |
missense |
probably benign |
0.05 |
R8776:Mpo
|
UTSW |
11 |
87,693,538 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8776-TAIL:Mpo
|
UTSW |
11 |
87,693,538 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8807:Mpo
|
UTSW |
11 |
87,687,165 (GRCm39) |
missense |
probably benign |
0.05 |
R8829:Mpo
|
UTSW |
11 |
87,694,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R9272:Mpo
|
UTSW |
11 |
87,686,693 (GRCm39) |
missense |
probably benign |
0.01 |
R9535:Mpo
|
UTSW |
11 |
87,690,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Mpo
|
UTSW |
11 |
87,694,349 (GRCm39) |
missense |
probably benign |
|
RF018:Mpo
|
UTSW |
11 |
87,688,465 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Mpo
|
UTSW |
11 |
87,686,071 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCCAAGACAATGGCAGGG -3'
(R):5'- TTTCCACAGTCCACAGGAGG -3'
Sequencing Primer
(F):5'- GCCCTGATGCCCTTTGACAG -3'
(R):5'- TCCATCCAACTCGTTACCA -3'
|
Posted On |
2022-09-14 |