Incidental Mutation 'R6817:Lpo'
| ID |
537392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpo
|
| Ensembl Gene |
ENSMUSG00000009356 |
| Gene Name |
lactoperoxidase |
| Synonyms |
5830499B15Rik |
| MMRRC Submission |
044929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6817 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87697254-87716750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87700067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 525
(N525D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020779]
[ENSMUST00000103177]
[ENSMUST00000121303]
|
| AlphaFold |
Q5SW46 |
| 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: ENSMUST00000103177
AA Change: N525D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099466
Gene: ENSMUSG00000009356
AA Change: N525D
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0610 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| 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 peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the generation of the antimicrobial substance hypothiocyanous acid. This gene is present in a gene cluster on chromosome 17. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,885,107 (GRCm39) |
L690R |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,656,637 (GRCm39) |
N1549S |
probably benign |
Het |
| Cast |
T |
C |
13: 74,847,277 (GRCm39) |
T670A |
possibly damaging |
Het |
| Cd109 |
A |
G |
9: 78,622,237 (GRCm39) |
D1409G |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,637,200 (GRCm39) |
F311S |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,744,524 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
G |
A |
1: 10,100,829 (GRCm39) |
L256F |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,402,027 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
G |
4: 104,536,743 (GRCm39) |
K178E |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,774,854 (GRCm39) |
Y346H |
probably damaging |
Het |
| Dlg2 |
T |
G |
7: 91,614,872 (GRCm39) |
D225E |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,527,462 (GRCm39) |
I198F |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,049,807 (GRCm39) |
H155R |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,036,305 (GRCm39) |
H247R |
probably damaging |
Het |
| Esrp1 |
A |
G |
4: 11,357,552 (GRCm39) |
V355A |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,419 (GRCm39) |
M193V |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,607,037 (GRCm39) |
T4A |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,810,478 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,173,931 (GRCm39) |
|
probably benign |
Het |
| Lrrc41 |
G |
A |
4: 115,946,502 (GRCm39) |
E406K |
possibly damaging |
Het |
| Lrrc59 |
G |
C |
11: 94,520,891 (GRCm39) |
D21H |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
| Mroh7 |
C |
T |
4: 106,571,312 (GRCm39) |
A14T |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,416,650 (GRCm39) |
S3199P |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,326 (GRCm39) |
Y270F |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 112,978,104 (GRCm39) |
T1273S |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,836,092 (GRCm39) |
E385V |
possibly damaging |
Het |
| Nsl1 |
T |
G |
1: 190,795,471 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
C |
8: 95,041,310 (GRCm39) |
|
probably null |
Het |
| Or5d45 |
A |
T |
2: 88,153,107 (GRCm39) |
M314K |
probably benign |
Het |
| Pcna-ps2 |
T |
G |
19: 9,260,861 (GRCm39) |
M40R |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,377,407 (GRCm39) |
E148G |
probably damaging |
Het |
| Pirt |
A |
G |
11: 66,816,737 (GRCm39) |
E16G |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,148,944 (GRCm39) |
Y566H |
probably damaging |
Het |
| Psg17 |
A |
C |
7: 18,548,565 (GRCm39) |
V402G |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,360 (GRCm39) |
E191G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,353,111 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
C |
T |
5: 53,221,370 (GRCm39) |
T272I |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,664,935 (GRCm39) |
E332G |
probably benign |
Het |
| Spdye4c |
T |
C |
2: 128,438,430 (GRCm39) |
Y263H |
probably damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,704,793 (GRCm39) |
V42I |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,634,941 (GRCm39) |
N463Y |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,595,061 (GRCm39) |
Q3831L |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,133,812 (GRCm39) |
|
probably null |
Het |
| Zfand1 |
A |
G |
3: 10,405,884 (GRCm39) |
C246R |
probably benign |
Het |
|
| Other mutations in Lpo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Lpo
|
APN |
11 |
87,711,964 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01833:Lpo
|
APN |
11 |
87,698,159 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02413:Lpo
|
APN |
11 |
87,697,732 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02706:Lpo
|
APN |
11 |
87,708,599 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02865:Lpo
|
APN |
11 |
87,697,803 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02939:Lpo
|
APN |
11 |
87,706,004 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1072:Lpo
|
UTSW |
11 |
87,709,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Lpo
|
UTSW |
11 |
87,708,143 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1667:Lpo
|
UTSW |
11 |
87,698,067 (GRCm39) |
unclassified |
probably benign |
|
|
R1719:Lpo
|
UTSW |
11 |
87,700,018 (GRCm39) |
splice site |
probably null |
|
|
R2133:Lpo
|
UTSW |
11 |
87,711,956 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2871:Lpo
|
UTSW |
11 |
87,707,350 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2871:Lpo
|
UTSW |
11 |
87,707,350 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4382:Lpo
|
UTSW |
11 |
87,713,027 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4657:Lpo
|
UTSW |
11 |
87,705,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Lpo
|
UTSW |
11 |
87,701,166 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4969:Lpo
|
UTSW |
11 |
87,697,751 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5368:Lpo
|
UTSW |
11 |
87,711,895 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5536:Lpo
|
UTSW |
11 |
87,707,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Lpo
|
UTSW |
11 |
87,713,058 (GRCm39) |
missense |
unknown |
|
|
R6556:Lpo
|
UTSW |
11 |
87,708,589 (GRCm39) |
nonsense |
probably null |
|
|
R7024:Lpo
|
UTSW |
11 |
87,707,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Lpo
|
UTSW |
11 |
87,700,077 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7206:Lpo
|
UTSW |
11 |
87,698,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Lpo
|
UTSW |
11 |
87,705,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8455:Lpo
|
UTSW |
11 |
87,705,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Lpo
|
UTSW |
11 |
87,700,066 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8848:Lpo
|
UTSW |
11 |
87,708,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8891:Lpo
|
UTSW |
11 |
87,697,848 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8989:Lpo
|
UTSW |
11 |
87,708,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF010:Lpo
|
UTSW |
11 |
87,711,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGATTGGCTCCCGGGTTC -3'
(R):5'- CAAAGGACAGGCTACCTTGTG -3'
Sequencing Primer
(F):5'- GTTCCAGAAGAGAGTGCCC -3'
(R):5'- TGCCTCCAATCAGAGACATTTCCTAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation