Incidental Mutation 'R0091:Mpo'
| ID |
20225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpo
|
| Ensembl Gene |
ENSMUSG00000009350 |
| Gene Name |
myeloperoxidase |
| Synonyms |
|
| MMRRC Submission |
038378-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0091 (G1)
|
| Quality Score |
131 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
87684610-87695238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87692436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 525
(M525V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020779]
[ENSMUST00000103177]
[ENSMUST00000107930]
[ENSMUST00000121303]
[ENSMUST00000146650]
|
| AlphaFold |
P11247 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020779
AA Change: M525V
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350
AA Change: M525V
| 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: ENSMUST00000103177
|
| SMART Domains |
Protein: ENSMUSP00000099466
Gene: ENSMUSG00000009356
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:An_peroxidase
|
136 |
682 |
1.8e-180 |
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
AA Change: M525V
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350
AA Change: M525V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:An_peroxidase
|
147 |
692 |
4.2e-183 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130442
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167903
|
| Meta Mutation Damage Score |
0.1831 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.9%
- 10x: 94.4%
- 20x: 84.5%
|
| Validation Efficiency |
98% (86/88) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,932,179 (GRCm39) |
S278P |
possibly damaging |
Het |
| Adam11 |
A |
G |
11: 102,663,665 (GRCm39) |
Y281C |
probably damaging |
Het |
| Adam6a |
G |
T |
12: 113,507,849 (GRCm39) |
R74L |
possibly damaging |
Het |
| Adcy5 |
T |
C |
16: 35,091,368 (GRCm39) |
|
probably null |
Het |
| Adrb2 |
A |
G |
18: 62,312,090 (GRCm39) |
L245P |
probably benign |
Het |
| Aebp2 |
T |
C |
6: 140,589,800 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,343,070 (GRCm39) |
T240A |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,423,794 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,274,213 (GRCm39) |
Y416F |
probably damaging |
Het |
| Atp5mc2 |
A |
C |
15: 102,571,492 (GRCm39) |
L133R |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,233 (GRCm39) |
Y326N |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,757,297 (GRCm39) |
S189G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,489,772 (GRCm39) |
I477N |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,796,574 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,415,301 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,342,551 (GRCm39) |
N169S |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,473,974 (GRCm39) |
|
probably benign |
Het |
| Egln3 |
A |
G |
12: 54,228,432 (GRCm39) |
F225L |
probably benign |
Het |
| Erap1 |
G |
A |
13: 74,816,171 (GRCm39) |
R100Q |
possibly damaging |
Het |
| Erc2 |
A |
T |
14: 27,498,781 (GRCm39) |
|
probably null |
Het |
| Fto |
G |
A |
8: 92,168,435 (GRCm39) |
|
probably null |
Het |
| Gdap1l1 |
C |
T |
2: 163,288,011 (GRCm39) |
P80S |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,905,405 (GRCm39) |
E35G |
possibly damaging |
Het |
| Hhipl1 |
A |
G |
12: 108,288,156 (GRCm39) |
|
probably benign |
Het |
| Ift80 |
A |
T |
3: 68,822,008 (GRCm39) |
L679Q |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,488,013 (GRCm39) |
|
probably benign |
Het |
| Inhbb |
T |
C |
1: 119,345,125 (GRCm39) |
Y388C |
probably damaging |
Het |
| Kmt2d |
G |
T |
15: 98,742,360 (GRCm39) |
|
probably benign |
Het |
| Krt20 |
A |
G |
11: 99,328,640 (GRCm39) |
V95A |
probably damaging |
Het |
| Lck |
A |
T |
4: 129,449,474 (GRCm39) |
S274R |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,376,848 (GRCm39) |
N4243I |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,043,311 (GRCm39) |
V506I |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,840,507 (GRCm39) |
C1000R |
probably damaging |
Het |
| Matn3 |
G |
A |
12: 9,002,105 (GRCm39) |
D106N |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,980,503 (GRCm39) |
E49G |
probably benign |
Het |
| Mmadhc |
A |
G |
2: 50,182,869 (GRCm39) |
S36P |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,229,629 (GRCm39) |
Y433H |
probably damaging |
Het |
| Myo5a |
C |
T |
9: 75,068,774 (GRCm39) |
R659C |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,568,364 (GRCm39) |
S171G |
probably benign |
Het |
| Or1j18 |
A |
G |
2: 36,624,917 (GRCm39) |
N195D |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,518 (GRCm39) |
D231E |
probably benign |
Het |
| Or5g29 |
A |
T |
2: 85,421,696 (GRCm39) |
N271Y |
probably benign |
Het |
| P2ry14 |
A |
G |
3: 59,023,314 (GRCm39) |
Y49H |
probably benign |
Het |
| Papss2 |
C |
T |
19: 32,611,302 (GRCm39) |
T17I |
possibly damaging |
Het |
| Pcid2 |
T |
C |
8: 13,135,392 (GRCm39) |
T206A |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,022,844 (GRCm39) |
E140G |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
| Prdx2 |
T |
G |
8: 85,698,330 (GRCm39) |
|
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,514,310 (GRCm39) |
L471Q |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,557,604 (GRCm39) |
D232E |
possibly damaging |
Het |
| Rnf214 |
T |
A |
9: 45,809,791 (GRCm39) |
|
probably null |
Het |
| Rora |
G |
A |
9: 69,281,330 (GRCm39) |
R314H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,168,095 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
C |
1: 87,742,402 (GRCm39) |
V58A |
probably damaging |
Het |
| Serpina3i |
C |
T |
12: 104,231,423 (GRCm39) |
T20M |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,254,537 (GRCm39) |
N578S |
probably benign |
Het |
| Soat2 |
A |
G |
15: 102,066,574 (GRCm39) |
Y285C |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,794,769 (GRCm39) |
Y478C |
probably damaging |
Het |
| Syne4 |
G |
A |
7: 30,018,344 (GRCm39) |
G362E |
probably damaging |
Het |
| Tas2r126 |
A |
T |
6: 42,412,036 (GRCm39) |
M190L |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttc19 |
A |
G |
11: 62,199,910 (GRCm39) |
D218G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,942,800 (GRCm39) |
V629A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,905,968 (GRCm39) |
N521D |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,841,614 (GRCm39) |
E405G |
possibly damaging |
Het |
| Usp46 |
C |
T |
5: 74,163,918 (GRCm39) |
R246Q |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,262,075 (GRCm39) |
I352F |
possibly damaging |
Het |
| Wdr4 |
G |
A |
17: 31,715,890 (GRCm39) |
T398I |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,968,560 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R9037:Mpo
|
UTSW |
11 |
87,688,557 (GRCm39) |
unclassified |
probably benign |
|
|
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'- AGCGCATCCCAACCTTGTGAAC -3'
(R):5'- CAAAAGTCCAGCTTGTGAAGAAGCC -3'
Sequencing Primer
(F):5'- CCAACCTTGTGAACCCTCC -3'
(R):5'- AGGCCGAACTTAGGCCAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation