Incidental Mutation 'R6983:Lonp2'
| ID |
542793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
045090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R6983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87350876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 22
(V22E)
|
| 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: V22E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: V22E
| 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: V22E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: V22E
| 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: V22E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: V22E
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (65/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,953,686 (GRCm39) |
V530A |
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,307,439 (GRCm39) |
N816D |
probably damaging |
Het |
| Aebp2 |
T |
C |
6: 140,583,389 (GRCm39) |
F288L |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,101,583 (GRCm39) |
S1024P |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 52,934,436 (GRCm39) |
K643Q |
probably damaging |
Het |
| Atg2a |
A |
T |
19: 6,310,070 (GRCm39) |
D1751V |
probably damaging |
Het |
| Best2 |
T |
A |
8: 85,736,405 (GRCm39) |
I253F |
probably benign |
Het |
| Bmp1 |
G |
T |
14: 70,745,647 (GRCm39) |
P55T |
probably damaging |
Het |
| C1s1 |
C |
A |
6: 124,517,855 (GRCm39) |
V42F |
possibly damaging |
Het |
| Ccdc115 |
A |
G |
1: 34,478,122 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
C |
T |
19: 6,371,698 (GRCm39) |
P1326S |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,092,379 (GRCm39) |
T744I |
probably benign |
Het |
| Cit |
T |
G |
5: 116,132,150 (GRCm39) |
L1745R |
probably damaging |
Het |
| Commd6 |
A |
T |
14: 101,874,488 (GRCm39) |
S39T |
probably damaging |
Het |
| Crot |
T |
G |
5: 9,028,280 (GRCm39) |
Y223S |
probably benign |
Het |
| Crybg1 |
G |
T |
10: 43,875,338 (GRCm39) |
A590D |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,817 (GRCm39) |
E841K |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,717,730 (GRCm39) |
Y576H |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,022,822 (GRCm39) |
V749E |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,698 (GRCm39) |
D1391V |
probably damaging |
Het |
| Foxf2 |
T |
A |
13: 31,811,180 (GRCm39) |
M373K |
probably benign |
Het |
| Fstl1 |
A |
T |
16: 37,651,980 (GRCm39) |
E287D |
probably benign |
Het |
| Gltpd2 |
T |
C |
11: 70,411,110 (GRCm39) |
Y134H |
probably damaging |
Het |
| Hemgn |
T |
A |
4: 46,395,997 (GRCm39) |
H413L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,853,793 (GRCm39) |
S372P |
probably benign |
Het |
| Inava |
A |
G |
1: 136,147,894 (GRCm39) |
S353P |
possibly damaging |
Het |
| Ints10 |
T |
C |
8: 69,246,703 (GRCm39) |
V11A |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,614,635 (GRCm39) |
V306A |
probably benign |
Het |
| Lamtor2 |
G |
A |
3: 88,460,146 (GRCm39) |
Q9* |
probably null |
Het |
| Mad1l1 |
T |
C |
5: 140,179,739 (GRCm39) |
E383G |
probably damaging |
Het |
| Man2b1 |
T |
A |
8: 85,817,700 (GRCm39) |
|
probably null |
Het |
| Mtch1 |
T |
C |
17: 29,557,750 (GRCm39) |
I243V |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,736,341 (GRCm39) |
M1546K |
probably benign |
Het |
| Ntf3 |
T |
C |
6: 126,078,808 (GRCm39) |
T233A |
probably damaging |
Het |
| Omg |
T |
C |
11: 79,392,764 (GRCm39) |
S365G |
probably benign |
Het |
| Or52ad1 |
C |
T |
7: 102,996,022 (GRCm39) |
V38I |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,935,374 (GRCm39) |
N455K |
probably damaging |
Het |
| Pakap |
T |
A |
4: 57,709,973 (GRCm39) |
V306D |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,625,552 (GRCm39) |
Y1349N |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,271,469 (GRCm39) |
L368P |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,330,030 (GRCm39) |
I194K |
possibly damaging |
Het |
| Podn |
T |
C |
4: 107,881,470 (GRCm39) |
|
probably null |
Het |
| Potefam1 |
A |
G |
2: 111,058,595 (GRCm39) |
|
probably null |
Het |
| Pramel6 |
A |
T |
2: 87,339,923 (GRCm39) |
E229V |
possibly damaging |
Het |
| Ptpro |
C |
T |
6: 137,426,915 (GRCm39) |
P262L |
probably damaging |
Het |
| Rnf122 |
A |
T |
8: 31,608,488 (GRCm39) |
T19S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,635,585 (GRCm39) |
Y320N |
possibly damaging |
Het |
| Slc2a9 |
A |
C |
5: 38,549,064 (GRCm39) |
I243S |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,197,749 (GRCm39) |
M130K |
probably benign |
Het |
| Stx5a |
A |
G |
19: 8,732,533 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
G |
T |
2: 61,642,079 (GRCm39) |
G185V |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,565,207 (GRCm39) |
D1183G |
probably benign |
Het |
| Thbs1 |
A |
T |
2: 117,950,433 (GRCm39) |
I689F |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trub2 |
A |
T |
2: 29,677,796 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,597,306 (GRCm39) |
V19869A |
probably damaging |
Het |
| Tufm |
T |
C |
7: 126,088,607 (GRCm39) |
V303A |
possibly damaging |
Het |
| Vezf1 |
T |
C |
11: 87,964,145 (GRCm39) |
I99T |
possibly damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,118 (GRCm39) |
V19A |
probably benign |
Het |
| Xpc |
C |
T |
6: 91,481,005 (GRCm39) |
R289K |
probably damaging |
Het |
| Zfp811 |
T |
A |
17: 33,016,406 (GRCm39) |
K545* |
probably null |
Het |
| Zmiz2 |
G |
A |
11: 6,352,413 (GRCm39) |
D623N |
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 |
|
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 |
|
|
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'- TTTAATGTAGGGACCAGCCTG -3'
(R):5'- TACCTGTGCAATGGTGGCAG -3'
Sequencing Primer
(F):5'- AGAAGCCGCTACGCTTTAG -3'
(R):5'- CAATGGTGGCAGGTCCTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation