Incidental Mutation 'R0302:Lonp2'
ID |
24852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lonp2
|
Ensembl Gene |
ENSMUSG00000047866 |
Gene Name |
lon peptidase 2, peroxisomal |
Synonyms |
1300002A08Rik |
MMRRC Submission |
038514-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
R0302 (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 87364619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 326
(T326A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000122188]
[ENSMUST00000155433]
|
AlphaFold |
Q9DBN5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034141
AA Change: T326A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034141 Gene: ENSMUSG00000047866 AA Change: T326A
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 |
unknown
Transcript: ENSMUST00000122188
AA Change: T184A
|
SMART Domains |
Protein: ENSMUSP00000113834 Gene: ENSMUSG00000047866 AA Change: T184A
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 |
possibly damaging
Transcript: ENSMUST00000155433
AA Change: T326A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118737 Gene: ENSMUSG00000047866 AA Change: T326A
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 |
noncoding transcript
Transcript: ENSMUST00000155501
|
Meta Mutation Damage Score |
0.1662 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.5%
|
Validation Efficiency |
100% (63/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprs |
T |
C |
4: 126,211,185 (GRCm39) |
E244G |
probably benign |
Het |
Aldh1l2 |
G |
A |
10: 83,356,229 (GRCm39) |
P54S |
probably damaging |
Het |
Ankdd1a |
G |
A |
9: 65,416,924 (GRCm39) |
|
probably benign |
Het |
Ankra2 |
T |
A |
13: 98,408,200 (GRCm39) |
S216R |
probably damaging |
Het |
Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,028,342 (GRCm39) |
Y893C |
probably benign |
Het |
Capza2 |
G |
A |
6: 17,648,523 (GRCm39) |
R15H |
probably benign |
Het |
Cbfa2t2 |
T |
C |
2: 154,376,796 (GRCm39) |
|
probably benign |
Het |
Ccdc96 |
A |
T |
5: 36,643,445 (GRCm39) |
T484S |
possibly damaging |
Het |
Cckar |
GCTTAGCCTCTTCT |
GCT |
5: 53,857,641 (GRCm39) |
|
probably null |
Het |
Ccl4 |
T |
A |
11: 83,554,280 (GRCm39) |
|
probably benign |
Het |
Cpt1b |
A |
G |
15: 89,302,073 (GRCm39) |
Y702H |
probably benign |
Het |
Cr1l |
G |
A |
1: 194,800,101 (GRCm39) |
T153I |
probably damaging |
Het |
Cyth2 |
C |
A |
7: 45,460,009 (GRCm39) |
E57* |
probably null |
Het |
Daxx |
T |
A |
17: 34,132,594 (GRCm39) |
S575T |
probably damaging |
Het |
Depdc5 |
T |
C |
5: 33,061,890 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,521,956 (GRCm39) |
D1923G |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,162,937 (GRCm39) |
T428A |
probably benign |
Het |
Dnm2 |
G |
T |
9: 21,411,639 (GRCm39) |
A619S |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,723,457 (GRCm39) |
T639A |
probably benign |
Het |
Epsti1 |
A |
T |
14: 78,177,366 (GRCm39) |
H182L |
probably damaging |
Het |
Exoc3l |
C |
T |
8: 106,020,175 (GRCm39) |
R250Q |
probably benign |
Het |
Ggn |
G |
T |
7: 28,870,665 (GRCm39) |
|
probably null |
Het |
Il1rap |
A |
G |
16: 26,511,544 (GRCm39) |
N196S |
probably benign |
Het |
Ints6 |
T |
C |
14: 62,946,961 (GRCm39) |
T335A |
probably damaging |
Het |
Itga1 |
G |
A |
13: 115,148,854 (GRCm39) |
|
probably benign |
Het |
Kifc3 |
G |
T |
8: 95,830,098 (GRCm39) |
Q557K |
possibly damaging |
Het |
Krt23 |
A |
G |
11: 99,369,027 (GRCm39) |
I422T |
probably benign |
Het |
Lcn2 |
A |
G |
2: 32,274,901 (GRCm39) |
|
probably benign |
Het |
Lrpprc |
T |
C |
17: 85,047,506 (GRCm39) |
I909V |
possibly damaging |
Het |
Lrrc14 |
G |
T |
15: 76,598,552 (GRCm39) |
R396L |
probably benign |
Het |
Lypd6 |
T |
G |
2: 50,055,679 (GRCm39) |
|
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,819,645 (GRCm39) |
N610S |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,453,987 (GRCm39) |
N959I |
probably benign |
Het |
Mctp2 |
C |
T |
7: 71,740,012 (GRCm39) |
V793I |
possibly damaging |
Het |
Med25 |
A |
C |
7: 44,529,982 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
T |
C |
1: 52,748,616 (GRCm39) |
Y83C |
probably damaging |
Het |
Mtbp |
A |
T |
15: 55,488,820 (GRCm39) |
M499L |
probably damaging |
Het |
Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,085,333 (GRCm39) |
I542T |
probably damaging |
Het |
Nr1h3 |
A |
G |
2: 91,022,358 (GRCm39) |
M90T |
probably damaging |
Het |
Nsmce4a |
A |
G |
7: 130,147,623 (GRCm39) |
|
probably benign |
Het |
Oprl1 |
G |
A |
2: 181,361,021 (GRCm39) |
C318Y |
probably benign |
Het |
Or5d40 |
T |
A |
2: 88,015,854 (GRCm39) |
I211N |
possibly damaging |
Het |
Pbx3 |
A |
T |
2: 34,114,572 (GRCm39) |
S46T |
probably benign |
Het |
Pign |
A |
T |
1: 105,516,818 (GRCm39) |
F575I |
possibly damaging |
Het |
Ptpn13 |
G |
T |
5: 103,713,091 (GRCm39) |
S1738I |
probably benign |
Het |
Rnf126 |
G |
T |
10: 79,595,057 (GRCm39) |
P269Q |
probably damaging |
Het |
Ryr3 |
G |
A |
2: 112,477,468 (GRCm39) |
|
probably benign |
Het |
Slc2a7 |
C |
T |
4: 150,233,978 (GRCm39) |
A31V |
probably damaging |
Het |
Slc6a12 |
A |
G |
6: 121,340,218 (GRCm39) |
D487G |
probably damaging |
Het |
Son |
G |
T |
16: 91,453,032 (GRCm39) |
G593V |
probably damaging |
Het |
Spata31d1a |
T |
C |
13: 59,850,964 (GRCm39) |
N388S |
probably benign |
Het |
Spg11 |
A |
T |
2: 121,922,668 (GRCm39) |
M927K |
possibly damaging |
Het |
Taf13 |
A |
G |
3: 108,479,038 (GRCm39) |
M1V |
probably null |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Trio |
A |
G |
15: 27,902,603 (GRCm39) |
F286S |
probably damaging |
Het |
Trpm2 |
A |
C |
10: 77,779,824 (GRCm39) |
|
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,353,438 (GRCm39) |
M390V |
possibly damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,966,968 (GRCm39) |
Q238L |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,676,213 (GRCm39) |
E368G |
probably damaging |
Het |
Zfr2 |
G |
T |
10: 81,087,170 (GRCm39) |
|
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 |
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 |
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'- TGCATGGTAAGGAGACATGCTTGG -3'
(R):5'- ACAGTGCAGGTGATGCTGATGATG -3'
Sequencing Primer
(F):5'- AAGGAGACATGCTTGGTTTTTCTG -3'
(R):5'- AATCATGTGTGCAACTGCC -3'
|
Posted On |
2013-04-16 |