Incidental Mutation 'R7674:Lonp2'
| ID |
592377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
045744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R7674 (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 T
at 87392386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 484
(Q484L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000121673]
[ENSMUST00000122188]
[ENSMUST00000155433]
[ENSMUST00000163987]
|
| AlphaFold |
Q9DBN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034141
AA Change: Q484L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: Q484L
| 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: ENSMUST00000121673
AA Change: Q64L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: Q64L
| 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: Q342L
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: Q342L
| 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 benign
Transcript: ENSMUST00000155433
AA Change: Q484L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: Q484L
| 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 |
probably benign
Transcript: ENSMUST00000163987
AA Change: Q64L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: Q64L
| 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 |
0.4365 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (58/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,110,123 (GRCm39) |
I607F |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,848,899 (GRCm39) |
D559E |
probably damaging |
Het |
| Abl1 |
T |
C |
2: 31,579,841 (GRCm39) |
V8A |
possibly damaging |
Het |
| Alkal1 |
A |
T |
1: 6,459,712 (GRCm39) |
Y96F |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,435 (GRCm39) |
C352S |
possibly damaging |
Het |
| B4galnt3 |
G |
T |
6: 120,192,166 (GRCm39) |
D523E |
probably benign |
Het |
| Cadps |
C |
A |
14: 12,411,581 (GRCm38) |
E1258D |
probably damaging |
Het |
| Carmil2 |
A |
T |
8: 106,423,918 (GRCm39) |
Q1257L |
possibly damaging |
Het |
| Cars1 |
A |
G |
7: 143,140,840 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,911,491 (GRCm39) |
A781E |
probably benign |
Het |
| Ccr10 |
A |
T |
11: 101,065,475 (GRCm39) |
D18E |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,045,071 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
C |
A |
8: 94,240,897 (GRCm39) |
R400L |
probably damaging |
Het |
| Clcn6 |
C |
T |
4: 148,097,151 (GRCm39) |
V636M |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,558,546 (GRCm39) |
L1206H |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,264,621 (GRCm39) |
N333K |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,535,098 (GRCm39) |
I2355L |
probably benign |
Het |
| Dok4 |
T |
C |
8: 95,593,190 (GRCm39) |
Y165C |
probably damaging |
Het |
| Dpy19l3 |
A |
C |
7: 35,394,734 (GRCm39) |
D601E |
probably damaging |
Het |
| Egr3 |
G |
A |
14: 70,315,526 (GRCm39) |
|
probably null |
Het |
| Elapor1 |
T |
G |
3: 108,370,307 (GRCm39) |
R698S |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,792,075 (GRCm39) |
Q231R |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,113,394 (GRCm39) |
K1432R |
probably benign |
Het |
| Fbxw8 |
A |
T |
5: 118,263,036 (GRCm39) |
C214* |
probably null |
Het |
| Gm45861 |
A |
C |
8: 28,030,147 (GRCm39) |
Y821S |
unknown |
Het |
| Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,104,495 (GRCm39) |
S641P |
probably damaging |
Het |
| Ighv6-6 |
T |
A |
12: 114,398,837 (GRCm39) |
I10L |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,579,107 (GRCm39) |
R675Q |
probably damaging |
Het |
| Kif14 |
C |
T |
1: 136,396,558 (GRCm39) |
T288I |
probably damaging |
Het |
| Kpna3 |
A |
T |
14: 61,605,086 (GRCm39) |
N520K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 42,542,921 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
A |
T |
19: 12,438,751 (GRCm39) |
M70L |
probably benign |
Het |
| Msh3 |
C |
A |
13: 92,349,011 (GRCm39) |
V1074L |
probably benign |
Het |
| Muc6 |
A |
T |
7: 141,224,247 (GRCm39) |
L1645Q |
unknown |
Het |
| Nipbl |
C |
T |
15: 8,322,585 (GRCm39) |
V2609I |
probably benign |
Het |
| Nucks1 |
C |
A |
1: 131,858,844 (GRCm39) |
T202N |
probably benign |
Het |
| Or10al3 |
A |
G |
17: 38,011,573 (GRCm39) |
N4S |
probably benign |
Het |
| Or4c127 |
A |
T |
2: 89,833,389 (GRCm39) |
Y213F |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,687,899 (GRCm39) |
T10A |
probably benign |
Het |
| Or5m12 |
A |
C |
2: 85,734,880 (GRCm39) |
F173V |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Plekha2 |
A |
G |
8: 25,547,314 (GRCm39) |
S257P |
probably damaging |
Het |
| Pnlip |
G |
C |
19: 58,663,586 (GRCm39) |
G187A |
possibly damaging |
Het |
| Pramel22 |
T |
A |
4: 143,382,175 (GRCm39) |
K174* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,267,914 (GRCm39) |
S30N |
possibly damaging |
Het |
| Rho |
G |
T |
6: 115,909,294 (GRCm39) |
C110F |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
A |
G |
10: 22,569,893 (GRCm39) |
D528G |
probably damaging |
Het |
| Sorcs2 |
G |
A |
5: 36,555,296 (GRCm39) |
R32C |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Srp72 |
A |
T |
5: 77,122,673 (GRCm39) |
N35Y |
probably damaging |
Het |
| Tm2d2 |
C |
A |
8: 25,508,280 (GRCm39) |
Y141* |
probably null |
Het |
| Tor3a |
G |
A |
1: 156,483,478 (GRCm39) |
H315Y |
possibly damaging |
Het |
| Usp17la |
A |
T |
7: 104,510,654 (GRCm39) |
K420* |
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,321 (GRCm39) |
W262R |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,676,572 (GRCm39) |
V189D |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,465,370 (GRCm39) |
M462L |
possibly damaging |
Het |
| Zc3h18 |
AGG |
AG |
8: 123,110,295 (GRCm39) |
|
probably null |
Het |
| Zfp930 |
A |
T |
8: 69,681,337 (GRCm39) |
H344L |
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 |
|
|
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 |
|
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'- TGACAATAGAATGTGTGGCATG -3'
(R):5'- ATTAACTTCCGGACAACTGAAAGTC -3'
Sequencing Primer
(F):5'- AGGATTTAGAATATGAGGTGGTCAG -3'
(R):5'- CCATAGCATGACTGACTTTAAAGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation