Incidental Mutation 'R7826:Lonp2'
| ID |
602193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
045880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R7826 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87435641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 626
(P626S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000121673]
[ENSMUST00000122188]
[ENSMUST00000155433]
[ENSMUST00000163987]
|
| AlphaFold |
Q9DBN5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034141
AA Change: P626S
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: P626S
| 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: P206S
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: P206S
| 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: P484S
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: P484S
| 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: P626S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: P626S
| 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: P206S
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: P206S
| 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 |
0.1054 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
C |
A |
2: 25,468,477 (GRCm39) |
R478L |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,229,153 (GRCm39) |
T521A |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Btbd9 |
A |
T |
17: 30,553,301 (GRCm39) |
I387N |
probably benign |
Het |
| Ccdc27 |
C |
T |
4: 154,123,958 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
T |
11: 29,453,563 (GRCm39) |
H1642L |
probably benign |
Het |
| Cd300c2 |
C |
T |
11: 114,891,644 (GRCm39) |
V77I |
possibly damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,670,550 (GRCm39) |
S63T |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,793,410 (GRCm39) |
P467L |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,367,958 (GRCm39) |
T2781M |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,485,344 (GRCm39) |
D86G |
possibly damaging |
Het |
| Echs1 |
T |
A |
7: 139,696,349 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
C |
T |
4: 136,663,498 (GRCm39) |
M483I |
probably benign |
Het |
| Eprs1 |
T |
G |
1: 185,139,165 (GRCm39) |
V850G |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,392,561 (GRCm39) |
C114* |
probably null |
Het |
| Gm5160 |
C |
T |
18: 14,558,129 (GRCm39) |
R69C |
probably benign |
Het |
| Gpr75 |
A |
G |
11: 30,841,209 (GRCm39) |
H38R |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,319,197 (GRCm39) |
V230A |
probably benign |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,095 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
T |
C |
3: 100,489,455 (GRCm39) |
E508G |
probably damaging |
Het |
| Mipep |
C |
A |
14: 61,039,580 (GRCm39) |
A203E |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,299,668 (GRCm39) |
C753S |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,139,467 (GRCm39) |
E568G |
probably benign |
Het |
| Naca |
T |
A |
10: 127,879,479 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
G |
A |
14: 14,860,846 (GRCm38) |
|
probably null |
Het |
| Nf2 |
T |
C |
11: 4,739,750 (GRCm39) |
T419A |
probably benign |
Het |
| Npas3 |
A |
G |
12: 53,878,539 (GRCm39) |
T164A |
possibly damaging |
Het |
| Nudcd3 |
T |
A |
11: 6,100,581 (GRCm39) |
I124F |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,423 (GRCm39) |
*315Q |
probably null |
Het |
| Pappa2 |
A |
T |
1: 158,764,010 (GRCm39) |
C500* |
probably null |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,995 (GRCm39) |
S442T |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,105,752 (GRCm39) |
N105D |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,464,496 (GRCm39) |
T1344A |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,573,097 (GRCm39) |
I312V |
possibly damaging |
Het |
| Rsf1 |
A |
G |
7: 97,310,368 (GRCm39) |
|
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,903,851 (GRCm39) |
I150L |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,180,496 (GRCm39) |
S433P |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,644 (GRCm39) |
D209N |
probably damaging |
Het |
| Spcs2 |
C |
T |
7: 99,488,984 (GRCm39) |
G235R |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,389,115 (GRCm39) |
M165T |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,337 (GRCm39) |
D775G |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,419,245 (GRCm39) |
D264G |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,132,710 (GRCm39) |
L218H |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 127,866,953 (GRCm39) |
I649T |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,006,939 (GRCm39) |
Y114H |
probably damaging |
Het |
| Triml1 |
A |
T |
8: 43,591,803 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,715,220 (GRCm39) |
|
probably benign |
Het |
| Utrn |
C |
T |
10: 12,277,050 (GRCm39) |
|
probably null |
Het |
| Uty |
T |
C |
Y: 1,137,716 (GRCm39) |
K887E |
possibly damaging |
Het |
| Zfand2b |
T |
C |
1: 75,145,502 (GRCm39) |
F3L |
possibly damaging |
Het |
| Zfp280d |
C |
A |
9: 72,219,953 (GRCm39) |
Q243K |
possibly damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,668 (GRCm39) |
F544L |
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 |
|
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 |
|
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'- ATCTGGTGGCATTCACTGTGC -3'
(R):5'- GGTCACTTCCATTCAAGAGCCAC -3'
Sequencing Primer
(F):5'- GCATTCACTGTGCCTCCC -3'
(R):5'- TGTAACACTACACAGGGAAATTTTCC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation