Incidental Mutation 'R6534:Lonp2'
| ID |
520285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
044660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R6534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87443086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 429
(D429G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000121673]
[ENSMUST00000122188]
[ENSMUST00000155433]
[ENSMUST00000163987]
|
| AlphaFold |
Q9DBN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034141
AA Change: D849G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: D849G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LON_substr_bdg
|
12 |
220 |
1e-24 |
PFAM |
|
low complexity region
|
243 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
|
AAA
|
367 |
512 |
1.59e-10 |
SMART |
|
low complexity region
|
538 |
545 |
N/A |
INTRINSIC |
|
Pfam:Lon_C
|
628 |
837 |
1.6e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121673
AA Change: D429G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: D429G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA
|
1 |
93 |
8.7e-10 |
PFAM |
|
low complexity region
|
118 |
125 |
N/A |
INTRINSIC |
|
Pfam:Lon_C
|
208 |
417 |
3.2e-85 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000122188
AA Change: D707G
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: D707G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LON
|
12 |
224 |
9e-17 |
PFAM |
|
AAA
|
225 |
370 |
1.59e-10 |
SMART |
|
low complexity region
|
396 |
403 |
N/A |
INTRINSIC |
|
Pfam:Lon_C
|
486 |
695 |
1.5e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155433
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LON
|
12 |
220 |
3.3e-26 |
PFAM |
|
low complexity region
|
243 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
|
AAA
|
367 |
512 |
1.59e-10 |
SMART |
|
low complexity region
|
538 |
545 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163987
AA Change: D429G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: D429G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA
|
1 |
93 |
8.7e-10 |
PFAM |
|
low complexity region
|
118 |
125 |
N/A |
INTRINSIC |
|
Pfam:Lon_C
|
208 |
417 |
3.2e-85 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
| Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
| Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
| Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
| Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
| Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
| Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
| Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
| Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
| Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
probably benign |
Het |
|
| Other mutations in Lonp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Lonp2
|
APN |
8 |
87,360,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Lonp2
|
APN |
8 |
87,368,161 (GRCm39) |
splice site |
probably benign |
|
|
IGL01654:Lonp2
|
APN |
8 |
87,440,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02021:Lonp2
|
APN |
8 |
87,435,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02165:Lonp2
|
APN |
8 |
87,435,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02309:Lonp2
|
APN |
8 |
87,361,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02355:Lonp2
|
APN |
8 |
87,350,874 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02362:Lonp2
|
APN |
8 |
87,350,874 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02365:Lonp2
|
APN |
8 |
87,442,993 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02374:Lonp2
|
APN |
8 |
87,435,673 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02440:Lonp2
|
APN |
8 |
87,350,813 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
Furcht
|
UTSW |
8 |
87,358,130 (GRCm39) |
missense |
probably benign |
0.09 |
|
Horror
|
UTSW |
8 |
87,350,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Shellshock
|
UTSW |
8 |
87,435,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Lonp2
|
UTSW |
8 |
87,442,983 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0108:Lonp2
|
UTSW |
8 |
87,442,983 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0108:Lonp2
|
UTSW |
8 |
87,442,983 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0129:Lonp2
|
UTSW |
8 |
87,361,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0302:Lonp2
|
UTSW |
8 |
87,364,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0433:Lonp2
|
UTSW |
8 |
87,360,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Lonp2
|
UTSW |
8 |
87,363,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1148:Lonp2
|
UTSW |
8 |
87,363,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1413:Lonp2
|
UTSW |
8 |
87,368,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Lonp2
|
UTSW |
8 |
87,399,700 (GRCm39) |
splice site |
probably benign |
|
|
R1635:Lonp2
|
UTSW |
8 |
87,440,078 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1654:Lonp2
|
UTSW |
8 |
87,358,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2033:Lonp2
|
UTSW |
8 |
87,435,570 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2062:Lonp2
|
UTSW |
8 |
87,392,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2065:Lonp2
|
UTSW |
8 |
87,392,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2066:Lonp2
|
UTSW |
8 |
87,392,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2068:Lonp2
|
UTSW |
8 |
87,392,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4321:Lonp2
|
UTSW |
8 |
87,392,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4713:Lonp2
|
UTSW |
8 |
87,439,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4750:Lonp2
|
UTSW |
8 |
87,358,130 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5790:Lonp2
|
UTSW |
8 |
87,358,118 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5854:Lonp2
|
UTSW |
8 |
87,399,699 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5884:Lonp2
|
UTSW |
8 |
87,368,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Lonp2
|
UTSW |
8 |
87,440,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6236:Lonp2
|
UTSW |
8 |
87,363,215 (GRCm39) |
nonsense |
probably null |
|
|
R6481:Lonp2
|
UTSW |
8 |
87,361,536 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6805:Lonp2
|
UTSW |
8 |
87,435,724 (GRCm39) |
missense |
probably benign |
|
|
R6983:Lonp2
|
UTSW |
8 |
87,350,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Lonp2
|
UTSW |
8 |
87,358,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Lonp2
|
UTSW |
8 |
87,392,386 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7674:Lonp2
|
UTSW |
8 |
87,392,386 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7711:Lonp2
|
UTSW |
8 |
87,440,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7826:Lonp2
|
UTSW |
8 |
87,435,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7999:Lonp2
|
UTSW |
8 |
87,361,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8057:Lonp2
|
UTSW |
8 |
87,440,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8193:Lonp2
|
UTSW |
8 |
87,358,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Lonp2
|
UTSW |
8 |
87,442,933 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8766:Lonp2
|
UTSW |
8 |
87,363,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8813:Lonp2
|
UTSW |
8 |
87,358,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9049:Lonp2
|
UTSW |
8 |
87,435,735 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGTGAACATGAACCTTGAG -3'
(R):5'- GGATACCAAACCCACTGGAG -3'
Sequencing Primer
(F):5'- GTGAACATGAACCTTGAGAGTTGTC -3'
(R):5'- GGAGACCAGAATTCTAGGTTTAATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation