Incidental Mutation 'R8813:Lonp2'
ID |
672560 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lonp2
|
Ensembl Gene |
ENSMUSG00000047866 |
Gene Name |
lon peptidase 2, peroxisomal |
Synonyms |
1300002A08Rik |
MMRRC Submission |
068648-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R8813 (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 87358073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 98
(Y98C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034141
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000122188]
[ENSMUST00000155433]
|
AlphaFold |
Q9DBN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034141
AA Change: Y98C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034141 Gene: ENSMUSG00000047866 AA Change: Y98C
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 damaging
Transcript: ENSMUST00000122188
AA Change: Y98C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113834 Gene: ENSMUSG00000047866 AA Change: Y98C
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 damaging
Transcript: ENSMUST00000155433
AA Change: Y98C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118737 Gene: ENSMUSG00000047866 AA Change: Y98C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
96% (48/50) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA467197 |
T |
C |
2: 122,482,622 (GRCm39) |
L62P |
probably damaging |
Het |
Amotl2 |
T |
G |
9: 102,607,291 (GRCm39) |
S700A |
probably damaging |
Het |
Ccdc7a |
A |
G |
8: 129,549,942 (GRCm39) |
S1259P |
possibly damaging |
Het |
Cenpj |
C |
T |
14: 56,790,355 (GRCm39) |
E565K |
probably damaging |
Het |
Clmp |
C |
T |
9: 40,692,549 (GRCm39) |
R273* |
probably null |
Het |
Cops7b |
A |
T |
1: 86,528,846 (GRCm39) |
Q191L |
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 44,002,054 (GRCm39) |
F312L |
probably benign |
Het |
Dgkd |
G |
A |
1: 87,843,266 (GRCm39) |
C169Y |
probably damaging |
Het |
Dlec1 |
A |
T |
9: 118,956,498 (GRCm39) |
N724I |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 50,090,406 (GRCm39) |
V2831A |
probably damaging |
Het |
Dnah5 |
G |
T |
15: 28,229,719 (GRCm39) |
G118W |
probably damaging |
Het |
Dnah6 |
G |
T |
6: 73,104,937 (GRCm39) |
T1884K |
probably damaging |
Het |
Dnai4 |
T |
C |
4: 102,947,697 (GRCm39) |
E193G |
possibly damaging |
Het |
Efnb2 |
T |
A |
8: 8,670,731 (GRCm39) |
S290C |
probably damaging |
Het |
Eif1ad6 |
A |
G |
12: 87,668,593 (GRCm39) |
D75G |
probably damaging |
Het |
Eif2ak4 |
C |
A |
2: 118,278,806 (GRCm39) |
T990K |
probably damaging |
Het |
Erich3 |
A |
G |
3: 154,468,827 (GRCm39) |
D1093G |
unknown |
Het |
H2-DMa |
T |
C |
17: 34,354,734 (GRCm39) |
|
probably benign |
Het |
Habp2 |
G |
A |
19: 56,295,216 (GRCm39) |
D36N |
probably benign |
Het |
Kcnk13 |
G |
T |
12: 100,027,647 (GRCm39) |
G241W |
probably damaging |
Het |
Kdm6b |
GGGTGGTGGTGGTGGTGG |
GGGTGGTGGTGGTGGTGGTGG |
11: 69,297,655 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
TGG |
TGGGGG |
11: 69,297,658 (GRCm39) |
|
probably benign |
Het |
Klk1b5 |
G |
T |
7: 43,496,549 (GRCm39) |
M160I |
probably benign |
Het |
Marcksl1 |
C |
T |
4: 129,408,999 (GRCm39) |
P193S |
probably benign |
Het |
Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
Nxf7 |
G |
A |
X: 134,484,515 (GRCm39) |
R513C |
possibly damaging |
Het |
Or13a19 |
C |
A |
7: 139,902,793 (GRCm39) |
Y60* |
probably null |
Het |
Or4a73 |
A |
T |
2: 89,420,730 (GRCm39) |
M243K |
probably benign |
Het |
Or52e5 |
T |
A |
7: 104,719,518 (GRCm39) |
Y281* |
probably null |
Het |
Or7g32 |
T |
G |
9: 19,389,477 (GRCm39) |
D23A |
possibly damaging |
Het |
Or7g34 |
A |
T |
9: 19,477,895 (GRCm39) |
Y262N |
probably damaging |
Het |
Otof |
T |
A |
5: 30,540,242 (GRCm39) |
M965L |
probably benign |
Het |
Parp12 |
A |
G |
6: 39,073,508 (GRCm39) |
F439S |
probably damaging |
Het |
Pde1a |
G |
A |
2: 79,959,261 (GRCm39) |
|
probably benign |
Het |
Pramel22 |
T |
A |
4: 143,380,913 (GRCm39) |
N370I |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,532,812 (GRCm39) |
N1268D |
unknown |
Het |
Pter |
T |
C |
2: 12,985,114 (GRCm39) |
V148A |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,500,027 (GRCm39) |
M540T |
probably damaging |
Het |
Rnasel |
T |
A |
1: 153,629,641 (GRCm39) |
N52K |
probably damaging |
Het |
Rragd |
A |
T |
4: 33,012,953 (GRCm39) |
I317F |
possibly damaging |
Het |
Sla |
G |
T |
15: 66,664,127 (GRCm39) |
S81R |
probably benign |
Het |
T |
A |
G |
17: 8,653,532 (GRCm39) |
E57G |
probably benign |
Het |
Tanc1 |
T |
A |
2: 59,630,265 (GRCm39) |
F748L |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,938,136 (GRCm39) |
W3073R |
probably damaging |
Het |
Trim33 |
A |
G |
3: 103,254,052 (GRCm39) |
T967A |
probably benign |
Het |
Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
Trpm1 |
T |
A |
7: 63,851,756 (GRCm39) |
M158K |
possibly damaging |
Het |
Vmn1r205 |
A |
G |
13: 22,776,424 (GRCm39) |
L226P |
probably benign |
Het |
Vmn1r56 |
C |
T |
7: 5,198,733 (GRCm39) |
V295M |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,778,566 (GRCm39) |
D208G |
probably damaging |
Het |
Zfp11 |
T |
C |
5: 129,735,278 (GRCm39) |
D61G |
probably benign |
Het |
Zscan4e |
C |
A |
7: 11,041,540 (GRCm39) |
E139* |
probably null |
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 |
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 |
R9049:Lonp2
|
UTSW |
8 |
87,435,735 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGGTCCATCTAGCTTTGCTG -3'
(R):5'- TGCACTGCGTATCTGTAGAATTG -3'
Sequencing Primer
(F):5'- AGCTTTGCTGCATCTAACCAAG -3'
(R):5'- CGTATCTGTAGAATTGCTCTGACAG -3'
|
Posted On |
2021-04-30 |