Incidental Mutation 'IGL02309:Lonp2'
| ID |
287754 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
IGL02309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87361491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 223
(E223K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000122188]
[ENSMUST00000155433]
|
| AlphaFold |
Q9DBN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034141
AA Change: E223K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: E223K
| 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: ENSMUST00000122188
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
| 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: E223K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: E223K
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,193,125 (GRCm39) |
F111S |
probably benign |
Het |
| Afg1l |
C |
A |
10: 42,330,374 (GRCm39) |
V98F |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,353,210 (GRCm39) |
D191E |
possibly damaging |
Het |
| Akap5 |
A |
G |
12: 76,375,629 (GRCm39) |
K354E |
possibly damaging |
Het |
| Aplp2 |
A |
T |
9: 31,078,979 (GRCm39) |
M323K |
possibly damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,356,827 (GRCm39) |
|
probably benign |
Het |
| Asl |
A |
G |
5: 130,048,622 (GRCm39) |
Y30H |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,655,510 (GRCm39) |
H1173Q |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,303,327 (GRCm39) |
R2472H |
probably damaging |
Het |
| Clip1 |
T |
A |
5: 123,755,763 (GRCm39) |
H950L |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,506,660 (GRCm39) |
T222S |
probably benign |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,829 (GRCm39) |
N273Y |
probably damaging |
Het |
| Ddx52 |
T |
A |
11: 83,839,304 (GRCm39) |
S214T |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,402,284 (GRCm39) |
M318K |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,790,351 (GRCm39) |
D1E |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,480,928 (GRCm39) |
T443I |
probably benign |
Het |
| Gm2381 |
C |
T |
7: 42,472,033 (GRCm39) |
|
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,086,975 (GRCm39) |
I178F |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,713,470 (GRCm39) |
E804K |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,465,812 (GRCm39) |
L421P |
probably damaging |
Het |
| Haghl |
T |
G |
17: 26,003,638 (GRCm39) |
H56P |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,893,700 (GRCm39) |
L489P |
probably damaging |
Het |
| Ighv6-6 |
A |
T |
12: 114,398,534 (GRCm39) |
H77Q |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,085,883 (GRCm39) |
S243P |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,804,616 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,880 (GRCm39) |
|
probably benign |
Het |
| Lhx3 |
T |
C |
2: 26,091,385 (GRCm39) |
Q308R |
probably benign |
Het |
| Lta4h |
T |
C |
10: 93,310,352 (GRCm39) |
F407L |
probably damaging |
Het |
| Mndal |
C |
T |
1: 173,702,021 (GRCm39) |
G94R |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,943,175 (GRCm39) |
N101S |
probably damaging |
Het |
| Or14c41 |
T |
C |
7: 86,234,705 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or51af1 |
A |
T |
7: 103,141,206 (GRCm39) |
I293K |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,729 (GRCm39) |
N52S |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,842,348 (GRCm39) |
N294D |
probably damaging |
Het |
| Pknox1 |
T |
G |
17: 31,809,683 (GRCm39) |
F96V |
probably benign |
Het |
| Psg25 |
T |
G |
7: 18,260,349 (GRCm39) |
Q183P |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,981,307 (GRCm39) |
Y530C |
probably damaging |
Het |
| Sema3e |
T |
A |
5: 14,274,404 (GRCm39) |
D218E |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,266 (GRCm39) |
G46R |
unknown |
Het |
| Sidt1 |
T |
C |
16: 44,075,343 (GRCm39) |
I672V |
probably benign |
Het |
| Skic3 |
A |
G |
13: 76,275,166 (GRCm39) |
T238A |
possibly damaging |
Het |
| Slco1b2 |
T |
A |
6: 141,618,007 (GRCm39) |
S486T |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,750,898 (GRCm39) |
H340R |
probably benign |
Het |
| Smoc2 |
C |
A |
17: 14,595,789 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,014,801 (GRCm39) |
Y102C |
probably damaging |
Het |
| Spo11 |
A |
G |
2: 172,821,744 (GRCm39) |
R20G |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,466 (GRCm39) |
|
noncoding transcript |
Het |
| Trim12c |
T |
A |
7: 103,994,163 (GRCm39) |
E230D |
possibly damaging |
Het |
| Ttc17 |
G |
T |
2: 94,173,006 (GRCm39) |
N796K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,709,443 (GRCm39) |
|
probably benign |
Het |
| Ublcp1 |
A |
T |
11: 44,349,155 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,021,026 (GRCm39) |
T11M |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,113 (GRCm39) |
M95K |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,466,820 (GRCm39) |
T1160A |
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 |
|
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 |
|
R8813:Lonp2
|
UTSW |
8 |
87,358,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9049:Lonp2
|
UTSW |
8 |
87,435,735 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation