Incidental Mutation 'R8776:Mpo'
ID |
664709 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpo
|
Ensembl Gene |
ENSMUSG00000009350 |
Gene Name |
myeloperoxidase |
Synonyms |
|
MMRRC Submission |
068629-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8776 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87684610-87695238 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87693538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 639
(I639V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020779]
[ENSMUST00000103177]
[ENSMUST00000107930]
[ENSMUST00000121303]
[ENSMUST00000146650]
|
AlphaFold |
P11247 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020779
AA Change: I639V
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020779 Gene: ENSMUSG00000009350 AA Change: I639V
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 |
possibly damaging
Transcript: ENSMUST00000121303
AA Change: I639V
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112837 Gene: ENSMUSG00000009350 AA Change: I639V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:An_peroxidase
|
147 |
692 |
4.2e-183 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146650
AA Change: I59V
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128484 Gene: ENSMUSG00000009350 AA Change: I59V
Domain | Start | End | E-Value | Type |
Pfam:An_peroxidase
|
1 |
112 |
2.4e-32 |
PFAM |
|
Meta Mutation Damage Score |
0.1975 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (42/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
A |
G |
2: 35,245,002 (GRCm39) |
Y117H |
probably benign |
Het |
a |
A |
G |
2: 154,892,612 (GRCm39) |
D97G |
probably damaging |
Het |
Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
Chst9 |
T |
A |
18: 15,586,086 (GRCm39) |
Y159F |
possibly damaging |
Het |
Col26a1 |
G |
A |
5: 136,911,708 (GRCm39) |
R52C |
probably damaging |
Het |
Dchs2 |
A |
T |
3: 83,263,701 (GRCm39) |
D3323V |
possibly damaging |
Het |
Dennd11 |
T |
C |
6: 40,395,775 (GRCm39) |
|
probably benign |
Het |
Dqx1 |
T |
A |
6: 83,035,619 (GRCm39) |
I44N |
probably damaging |
Het |
Edc4 |
A |
G |
8: 106,613,992 (GRCm39) |
D415G |
probably damaging |
Het |
Enpp3 |
T |
A |
10: 24,650,733 (GRCm39) |
D801V |
probably damaging |
Het |
Fam13b |
G |
A |
18: 34,584,446 (GRCm39) |
R573C |
probably damaging |
Het |
Fgfr2 |
A |
T |
7: 129,798,002 (GRCm39) |
I415N |
possibly damaging |
Het |
Gm32742 |
T |
A |
9: 51,067,230 (GRCm39) |
M366L |
probably benign |
Het |
Gm49336 |
A |
T |
14: 60,457,515 (GRCm39) |
S563T |
possibly damaging |
Het |
Gm5475 |
T |
C |
15: 100,324,892 (GRCm39) |
F107L |
unknown |
Het |
Lamp3 |
T |
C |
16: 19,474,252 (GRCm39) |
D374G |
probably damaging |
Het |
Lin9 |
T |
C |
1: 180,496,450 (GRCm39) |
|
probably null |
Het |
Mef2d |
T |
C |
3: 88,074,956 (GRCm39) |
S381P |
probably benign |
Het |
Mfsd9 |
A |
G |
1: 40,812,915 (GRCm39) |
*467Q |
probably null |
Het |
Mrgprh |
T |
C |
17: 13,096,375 (GRCm39) |
I205T |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,154,476 (GRCm39) |
D580G |
probably benign |
Het |
Nkain4 |
T |
A |
2: 180,585,920 (GRCm39) |
I48F |
probably damaging |
Het |
Notch4 |
C |
A |
17: 34,806,579 (GRCm39) |
R1839S |
probably damaging |
Het |
Nr6a1 |
A |
G |
2: 38,650,244 (GRCm39) |
Y129H |
probably damaging |
Het |
Nras |
T |
C |
3: 102,966,176 (GRCm39) |
|
probably benign |
Het |
Or7g19 |
T |
A |
9: 18,856,286 (GRCm39) |
I114N |
possibly damaging |
Het |
Robo1 |
G |
T |
16: 72,821,141 (GRCm39) |
E1294* |
probably null |
Het |
Septin8 |
A |
G |
11: 53,428,343 (GRCm39) |
K331R |
probably benign |
Het |
Shmt2 |
A |
G |
10: 127,356,785 (GRCm39) |
|
probably null |
Het |
Skint6 |
A |
C |
4: 112,661,885 (GRCm39) |
L1233R |
possibly damaging |
Het |
Slc41a3 |
A |
T |
6: 90,621,165 (GRCm39) |
T402S |
probably benign |
Het |
Slc9a2 |
A |
G |
1: 40,781,889 (GRCm39) |
T373A |
probably damaging |
Het |
Spata31d1b |
T |
C |
13: 59,863,283 (GRCm39) |
C144R |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,181,783 (GRCm39) |
V4184A |
possibly damaging |
Het |
Tenm4 |
G |
A |
7: 96,544,239 (GRCm39) |
R2122H |
probably damaging |
Het |
Tlnrd1 |
A |
T |
7: 83,532,316 (GRCm39) |
D38E |
probably benign |
Het |
Tnnc2 |
C |
T |
2: 164,620,135 (GRCm39) |
A6T |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,356,320 (GRCm39) |
V1127A |
probably benign |
Het |
Ylpm1 |
T |
C |
12: 85,077,195 (GRCm39) |
Y1307H |
probably damaging |
Het |
Zfp266 |
T |
C |
9: 20,411,509 (GRCm39) |
S223G |
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 |
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-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'- ACGCAGGATACAATGCCTGG -3'
(R):5'- CCCAGAGAACCTATTAAGAGTGGC -3'
Sequencing Primer
(F):5'- ATACAATGCCTGGAGACGCTTTTG -3'
(R):5'- GGCTGAGAACTTGACTACCATC -3'
|
Posted On |
2021-03-08 |