Incidental Mutation 'R2107:Mpo'
ID |
232188 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpo
|
Ensembl Gene |
ENSMUSG00000009350 |
Gene Name |
myeloperoxidase |
Synonyms |
|
MMRRC Submission |
040111-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2107 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87684610-87695238 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87686901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 177
(Y177H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020779]
[ENSMUST00000107930]
[ENSMUST00000121303]
[ENSMUST00000143021]
|
AlphaFold |
P11247 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020779
AA Change: Y177H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020779 Gene: ENSMUSG00000009350 AA Change: Y177H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:An_peroxidase
|
147 |
692 |
4.2e-183 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000107930
AA Change: V99A
|
SMART Domains |
Protein: ENSMUSP00000103563 Gene: ENSMUSG00000009350 AA Change: V99A
Domain | Start | End | E-Value | Type |
SCOP:g1cxp.1
|
82 |
99 |
1e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121303
AA Change: Y177H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112837 Gene: ENSMUSG00000009350 AA Change: Y177H
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: 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 |
|
Meta Mutation Damage Score |
0.8159 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (72/72) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,685,744 (GRCm39) |
L364Q |
probably damaging |
Het |
A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
Ace2 |
A |
G |
X: 162,923,728 (GRCm39) |
N24S |
probably benign |
Het |
Acp2 |
G |
A |
2: 91,033,940 (GRCm39) |
|
probably benign |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Bcas3 |
G |
A |
11: 85,348,704 (GRCm39) |
V199I |
probably damaging |
Het |
Cblb |
T |
A |
16: 51,973,079 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
G |
T |
12: 100,887,808 (GRCm39) |
D1557E |
probably benign |
Het |
Cdc20 |
T |
C |
4: 118,290,710 (GRCm39) |
Y430C |
probably damaging |
Het |
Cdk5rap1 |
C |
T |
2: 154,195,166 (GRCm39) |
D350N |
probably benign |
Het |
Cgrrf1 |
T |
A |
14: 47,090,833 (GRCm39) |
|
probably benign |
Het |
Chia1 |
T |
A |
3: 106,036,156 (GRCm39) |
Y185* |
probably null |
Het |
Cmtm8 |
A |
T |
9: 114,625,176 (GRCm39) |
V85D |
possibly damaging |
Het |
Cplx4 |
A |
G |
18: 66,089,964 (GRCm39) |
S152P |
probably benign |
Het |
Crmp1 |
G |
T |
5: 37,399,838 (GRCm39) |
R117L |
probably benign |
Het |
Csad |
G |
C |
15: 102,087,469 (GRCm39) |
L365V |
probably null |
Het |
Dyrk1a |
C |
T |
16: 94,487,386 (GRCm39) |
T532M |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fan1 |
T |
G |
7: 64,016,536 (GRCm39) |
R529S |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,737,528 (GRCm39) |
W173R |
probably damaging |
Het |
Gm9611 |
A |
T |
14: 42,116,611 (GRCm39) |
N42K |
possibly damaging |
Het |
Gnal |
T |
A |
18: 67,346,649 (GRCm39) |
L257Q |
probably damaging |
Het |
Hint3 |
A |
T |
10: 30,494,252 (GRCm39) |
F33I |
probably damaging |
Het |
Ipcef1 |
A |
G |
10: 6,840,501 (GRCm39) |
S403P |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,514,822 (GRCm39) |
N3007S |
probably benign |
Het |
Kpna3 |
T |
C |
14: 61,607,933 (GRCm39) |
D424G |
possibly damaging |
Het |
Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
Lamc2 |
A |
G |
1: 153,030,132 (GRCm39) |
|
probably benign |
Het |
Lmtk3 |
G |
T |
7: 45,443,393 (GRCm39) |
C692F |
possibly damaging |
Het |
Lrguk |
T |
C |
6: 34,039,296 (GRCm39) |
M269T |
probably benign |
Het |
Lrrc19 |
T |
A |
4: 94,527,531 (GRCm39) |
T227S |
probably benign |
Het |
Lrrk1 |
C |
A |
7: 65,929,030 (GRCm39) |
D1201Y |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,423,905 (GRCm39) |
Y588N |
probably damaging |
Het |
Mmp1b |
A |
G |
9: 7,369,310 (GRCm39) |
W346R |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,660,717 (GRCm39) |
K2166R |
probably damaging |
Het |
Myo15a |
T |
C |
11: 60,382,636 (GRCm39) |
Y1544H |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
Nedd9 |
A |
T |
13: 41,492,455 (GRCm39) |
C12* |
probably null |
Het |
Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
Nisch |
C |
T |
14: 30,894,097 (GRCm39) |
V172I |
probably damaging |
Het |
Npy2r |
A |
T |
3: 82,448,436 (GRCm39) |
|
probably null |
Het |
Ogg1 |
C |
A |
6: 113,306,254 (GRCm39) |
N150K |
probably damaging |
Het |
Or1j4 |
C |
A |
2: 36,740,355 (GRCm39) |
A99E |
possibly damaging |
Het |
Or1p1 |
T |
C |
11: 74,180,216 (GRCm39) |
V248A |
probably damaging |
Het |
Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
Pck1 |
G |
C |
2: 172,995,861 (GRCm39) |
E120Q |
probably benign |
Het |
Pde11a |
A |
G |
2: 76,168,266 (GRCm39) |
V229A |
probably damaging |
Het |
Pias2 |
T |
C |
18: 77,185,167 (GRCm39) |
F83L |
probably benign |
Het |
Plagl1 |
A |
C |
10: 13,004,391 (GRCm39) |
|
probably benign |
Het |
Plin3 |
A |
T |
17: 56,591,391 (GRCm39) |
S130T |
probably benign |
Het |
Rcc2 |
A |
G |
4: 140,448,496 (GRCm39) |
Y515C |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,124,079 (GRCm39) |
K621E |
possibly damaging |
Het |
Rnf6 |
G |
A |
5: 146,148,091 (GRCm39) |
T309I |
probably damaging |
Het |
Rpusd3 |
G |
T |
6: 113,392,523 (GRCm39) |
T335N |
probably damaging |
Het |
Scn8a |
A |
T |
15: 100,916,244 (GRCm39) |
I1218F |
probably damaging |
Het |
Slc23a1 |
T |
A |
18: 35,758,879 (GRCm39) |
Q104L |
possibly damaging |
Het |
Slc34a3 |
A |
T |
2: 25,120,999 (GRCm39) |
V363D |
probably damaging |
Het |
Smap1 |
A |
T |
1: 23,887,535 (GRCm39) |
M248K |
possibly damaging |
Het |
Sp1 |
A |
G |
15: 102,318,113 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
A |
14: 27,183,744 (GRCm39) |
|
probably null |
Het |
Tbc1d1 |
T |
G |
5: 64,442,048 (GRCm39) |
N689K |
probably benign |
Het |
Tff2 |
T |
C |
17: 31,361,256 (GRCm39) |
E99G |
possibly damaging |
Het |
Tjp3 |
T |
C |
10: 81,116,378 (GRCm39) |
N239D |
possibly damaging |
Het |
Trim37 |
G |
A |
11: 87,050,651 (GRCm39) |
R230Q |
probably benign |
Het |
Ubr5 |
A |
G |
15: 37,989,546 (GRCm39) |
M2090T |
probably benign |
Het |
Unc13a |
T |
C |
8: 72,108,895 (GRCm39) |
|
probably null |
Het |
Usp43 |
GC |
G |
11: 67,746,566 (GRCm39) |
|
probably null |
Het |
Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
Vav2 |
T |
C |
2: 27,157,315 (GRCm39) |
E829G |
probably damaging |
Het |
Vps35l |
T |
C |
7: 118,393,762 (GRCm39) |
|
probably benign |
Het |
Zfp26 |
A |
T |
9: 20,353,533 (GRCm39) |
D85E |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,808,593 (GRCm39) |
F1484I |
possibly 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 |
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'- ACTGCAACAACAGGTGTGGG -3'
(R):5'- TGAACATGAGTGCACGCTC -3'
Sequencing Primer
(F):5'- ACAACAGGTGTGGGCCCAG -3'
(R):5'- CACGATGGCATTGGAGACCTG -3'
|
Posted On |
2014-09-18 |