Incidental Mutation 'R4321:Lonp2'
ID |
323831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lonp2
|
Ensembl Gene |
ENSMUSG00000047866 |
Gene Name |
lon peptidase 2, peroxisomal |
Synonyms |
1300002A08Rik |
MMRRC Submission |
041662-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
R4321 (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 87392356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 474
(H474R)
|
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: H474R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034141 Gene: ENSMUSG00000047866 AA Change: H474R
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: H54R
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113381 Gene: ENSMUSG00000047866 AA Change: H54R
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: H332R
|
SMART Domains |
Protein: ENSMUSP00000113834 Gene: ENSMUSG00000047866 AA Change: H332R
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: H474R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118737 Gene: ENSMUSG00000047866 AA Change: H474R
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: H54R
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127938 Gene: ENSMUSG00000047866 AA Change: H54R
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 |
0.9393 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (56/59) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
T |
10: 29,100,887 (GRCm39) |
D420V |
probably damaging |
Het |
Als2 |
A |
C |
1: 59,206,613 (GRCm39) |
|
probably benign |
Het |
Ankrd9 |
A |
G |
12: 110,943,074 (GRCm39) |
L287P |
probably damaging |
Het |
Aoc1l1 |
T |
A |
6: 48,953,456 (GRCm39) |
D460E |
probably damaging |
Het |
Bbof1 |
A |
T |
12: 84,473,902 (GRCm39) |
R411* |
probably null |
Het |
Camta2 |
A |
T |
11: 70,569,151 (GRCm39) |
L598Q |
probably damaging |
Het |
Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
Cep85 |
G |
A |
4: 133,859,596 (GRCm39) |
T689I |
probably damaging |
Het |
Clvs1 |
T |
C |
4: 9,282,029 (GRCm39) |
|
probably benign |
Het |
Cpped1 |
T |
C |
16: 11,705,610 (GRCm39) |
T65A |
probably benign |
Het |
Daxx |
T |
C |
17: 34,130,380 (GRCm39) |
Y132H |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,960,691 (GRCm39) |
E279G |
probably damaging |
Het |
Dok7 |
A |
T |
5: 35,237,141 (GRCm39) |
|
probably benign |
Het |
Dthd1 |
A |
T |
5: 62,976,033 (GRCm39) |
I236F |
probably damaging |
Het |
Egf |
A |
G |
3: 129,499,783 (GRCm39) |
C285R |
probably damaging |
Het |
Epha4 |
T |
A |
1: 77,483,850 (GRCm39) |
|
probably null |
Het |
Fbxw13 |
A |
C |
9: 109,010,503 (GRCm39) |
I378M |
probably benign |
Het |
Gaa |
A |
T |
11: 119,160,963 (GRCm39) |
N2I |
probably benign |
Het |
Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,385,503 (GRCm39) |
E847G |
probably damaging |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,617,125 (GRCm39) |
D149G |
possibly damaging |
Het |
Ice1 |
A |
T |
13: 70,751,229 (GRCm39) |
V1619E |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,330,948 (GRCm39) |
E1752G |
probably benign |
Het |
Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,078,078 (GRCm39) |
G1171D |
probably benign |
Het |
Mark1 |
G |
T |
1: 184,630,871 (GRCm39) |
D746E |
possibly damaging |
Het |
Mlxipl |
C |
T |
5: 135,164,304 (GRCm39) |
Q167* |
probably null |
Het |
Myo3a |
A |
T |
2: 22,271,966 (GRCm39) |
N162Y |
probably damaging |
Het |
Myo5a |
T |
G |
9: 75,124,812 (GRCm39) |
V1787G |
probably damaging |
Het |
Myorg |
C |
T |
4: 41,498,767 (GRCm39) |
V288I |
probably benign |
Het |
Nrxn3 |
A |
T |
12: 90,166,005 (GRCm39) |
E227V |
probably damaging |
Het |
Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
Rufy2 |
A |
G |
10: 62,818,459 (GRCm39) |
D5G |
probably damaging |
Het |
Rufy4 |
A |
T |
1: 74,171,943 (GRCm39) |
D222V |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
Slamf1 |
T |
C |
1: 171,602,694 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
Tshz2 |
T |
A |
2: 169,727,465 (GRCm39) |
I218N |
possibly damaging |
Het |
Txnl1 |
T |
C |
18: 63,812,561 (GRCm39) |
T78A |
possibly damaging |
Het |
Ulk4 |
T |
G |
9: 120,903,062 (GRCm39) |
R1138S |
probably benign |
Het |
Vamp8 |
A |
C |
6: 72,362,536 (GRCm39) |
V88G |
possibly damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
Zfp850 |
A |
C |
7: 27,688,825 (GRCm39) |
F461C |
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 |
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 |
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'- GCATGACTGACTTTAAAGGGTG -3'
Sequencing Primer
(F):5'- AGGATTTAGAATATGAGGTGGTCAG -3'
(R):5'- CTGACTTTAAAGGGTGTGCTCAAAAG -3'
|
Posted On |
2015-06-24 |