Incidental Mutation 'R2062:Lonp2'
| ID |
228768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
040067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R2062 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87392403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 490
(T490A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000121673]
[ENSMUST00000122188]
[ENSMUST00000155433]
[ENSMUST00000163987]
|
| AlphaFold |
Q9DBN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034141
AA Change: T490A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: T490A
| 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 |
possibly damaging
Transcript: ENSMUST00000121673
AA Change: T70A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: T70A
| 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: T348A
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: T348A
| 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 |
noncoding transcript
Transcript: ENSMUST00000124911
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155433
AA Change: T490A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: T490A
| 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 |
possibly damaging
Transcript: ENSMUST00000163987
AA Change: T70A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: T70A
| 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 |
|
| Meta Mutation Damage Score |
0.5537 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
99% (84/85) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
A |
X: 66,964,308 (GRCm39) |
I184L |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,529,271 (GRCm39) |
M957K |
probably benign |
Het |
| Adam7 |
C |
A |
14: 68,742,610 (GRCm39) |
V668F |
probably benign |
Het |
| Adcy7 |
T |
G |
8: 89,038,902 (GRCm39) |
L306R |
probably damaging |
Het |
| Akt3 |
A |
G |
1: 176,930,551 (GRCm39) |
S136P |
possibly damaging |
Het |
| Alox12e |
G |
A |
11: 70,206,828 (GRCm39) |
R620W |
probably damaging |
Het |
| Amy2a1 |
T |
C |
3: 113,324,217 (GRCm39) |
I108V |
probably benign |
Het |
| Ano7 |
T |
C |
1: 93,318,035 (GRCm39) |
V249A |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,098,351 (GRCm39) |
|
probably null |
Het |
| Asah2 |
A |
T |
19: 32,002,274 (GRCm39) |
V290E |
probably damaging |
Het |
| Ascc2 |
A |
T |
11: 4,631,496 (GRCm39) |
M646L |
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,095,038 (GRCm39) |
K421N |
probably damaging |
Het |
| Cars2 |
T |
C |
8: 11,597,747 (GRCm39) |
I110V |
probably damaging |
Het |
| Ccdc74a |
A |
G |
16: 17,467,890 (GRCm39) |
N249S |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,928,082 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
C |
T |
13: 73,755,842 (GRCm39) |
Q153* |
probably null |
Het |
| Cnep1r1 |
G |
T |
8: 88,845,445 (GRCm39) |
|
probably benign |
Het |
| Cyp2d37-ps |
C |
T |
15: 82,574,289 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp3a25 |
A |
G |
5: 145,923,779 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
G |
T |
9: 64,246,855 (GRCm39) |
Q67K |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,993,086 (GRCm39) |
V2936A |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,366,416 (GRCm39) |
R2710C |
probably damaging |
Het |
| Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
| Dvl3 |
G |
A |
16: 20,345,101 (GRCm39) |
S361N |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,881,181 (GRCm39) |
V1085A |
probably benign |
Het |
| Eif3b |
T |
C |
5: 140,412,208 (GRCm39) |
Y226H |
probably damaging |
Het |
| Endov |
T |
C |
11: 119,390,408 (GRCm39) |
F12S |
probably damaging |
Het |
| Ercc1 |
A |
G |
7: 19,088,295 (GRCm39) |
*37W |
probably null |
Het |
| Evi2a |
G |
A |
11: 79,418,593 (GRCm39) |
Q6* |
probably null |
Het |
| Faah |
C |
T |
4: 115,855,770 (GRCm39) |
V552M |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,369 (GRCm39) |
N2138K |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,479,741 (GRCm39) |
V2929E |
probably damaging |
Het |
| Gm2959 |
A |
G |
14: 42,235,658 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6327 |
A |
T |
16: 12,578,979 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9912 |
T |
C |
3: 148,890,795 (GRCm39) |
T113A |
unknown |
Het |
| Gtf2f2 |
A |
G |
14: 76,155,136 (GRCm39) |
S142P |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,286,678 (GRCm39) |
T3666S |
possibly damaging |
Het |
| Htt |
C |
T |
5: 34,983,326 (GRCm39) |
T975I |
probably benign |
Het |
| Il2rg |
A |
G |
X: 100,311,416 (GRCm39) |
L57P |
possibly damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,373,727 (GRCm39) |
Q1421* |
probably null |
Het |
| Itga3 |
T |
A |
11: 94,944,902 (GRCm39) |
Q802L |
possibly damaging |
Het |
| Lztr1 |
T |
C |
16: 17,327,534 (GRCm39) |
V79A |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,895,601 (GRCm39) |
E736K |
probably benign |
Het |
| Mpp4 |
G |
A |
1: 59,182,941 (GRCm39) |
P322L |
possibly damaging |
Het |
| Mrto4 |
T |
C |
4: 139,076,334 (GRCm39) |
K86E |
probably benign |
Het |
| Myof |
A |
G |
19: 37,904,194 (GRCm39) |
V2A |
possibly damaging |
Het |
| Naf1 |
A |
G |
8: 67,340,432 (GRCm39) |
D414G |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,555,882 (GRCm39) |
T1683M |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,993,578 (GRCm39) |
|
probably benign |
Het |
| Nebl |
A |
T |
2: 17,401,932 (GRCm39) |
M427K |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,259,564 (GRCm39) |
V205A |
possibly damaging |
Het |
| Nup133 |
C |
A |
8: 124,641,314 (GRCm39) |
D869Y |
probably damaging |
Het |
| Oas1g |
T |
C |
5: 121,023,946 (GRCm39) |
E121G |
probably damaging |
Het |
| Or10j3b |
T |
C |
1: 173,043,277 (GRCm39) |
F20L |
probably benign |
Het |
| Or2ab1 |
A |
G |
11: 58,488,396 (GRCm39) |
N58S |
probably damaging |
Het |
| Or2w3 |
G |
T |
11: 58,556,808 (GRCm39) |
C141F |
probably damaging |
Het |
| Or5m9 |
A |
G |
2: 85,877,299 (GRCm39) |
T158A |
probably damaging |
Het |
| Or6c205 |
T |
A |
10: 129,087,001 (GRCm39) |
Y199* |
probably null |
Het |
| Park7 |
T |
C |
4: 150,989,732 (GRCm39) |
N76S |
probably benign |
Het |
| Pcdh8 |
A |
T |
14: 80,005,651 (GRCm39) |
S912R |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,271,559 (GRCm39) |
I2998T |
probably damaging |
Het |
| Plxnb3 |
T |
A |
X: 72,815,357 (GRCm39) |
Y1845* |
probably null |
Het |
| Ppard |
A |
G |
17: 28,518,663 (GRCm39) |
H388R |
probably damaging |
Het |
| Psma1 |
A |
G |
7: 113,869,001 (GRCm39) |
S142P |
possibly damaging |
Het |
| Pth2r |
T |
C |
1: 65,382,721 (GRCm39) |
I158T |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,833,367 (GRCm39) |
P714Q |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,385,813 (GRCm39) |
S104T |
possibly damaging |
Het |
| Sema5a |
T |
C |
15: 32,609,363 (GRCm39) |
|
probably benign |
Het |
| Spmip10 |
C |
T |
18: 56,721,535 (GRCm39) |
Q25* |
probably null |
Het |
| Sun2 |
A |
G |
15: 79,622,852 (GRCm39) |
L109P |
probably damaging |
Het |
| Tdg |
A |
G |
10: 82,477,368 (GRCm39) |
T116A |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,195,380 (GRCm39) |
M587K |
possibly damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,020,019 (GRCm39) |
V118M |
probably benign |
Het |
| Tnfsf11 |
T |
A |
14: 78,516,362 (GRCm39) |
N202I |
probably damaging |
Het |
| Togaram2 |
T |
C |
17: 72,023,360 (GRCm39) |
S759P |
probably benign |
Het |
| Ttc7b |
G |
A |
12: 100,291,948 (GRCm39) |
A208V |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,338 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,905,118 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
T |
C |
12: 79,330,806 (GRCm39) |
|
probably null |
Het |
| Zfyve28 |
T |
C |
5: 34,391,681 (GRCm39) |
M157V |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,406,999 (GRCm39) |
C1589R |
probably damaging |
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 |
|
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 |
|
R6534:Lonp2
|
UTSW |
8 |
87,443,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGACAATAGAATGTGTGGCATG -3'
(R):5'- TTTGTTCAACGCTGACTCTACAG -3'
Sequencing Primer
(F):5'- TCAGCTAACTATTGAACAGAAATGTC -3'
(R):5'- TGTTCAACGCTGACTCTACAGAAAAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation