Incidental Mutation 'R6025:Lonp2'
| ID |
479978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
044197-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R6025 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87440001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 247
(G247V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000121673]
[ENSMUST00000122188]
[ENSMUST00000155433]
[ENSMUST00000163987]
|
| AlphaFold |
Q9DBN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034141
AA Change: G667V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: G667V
| 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: ENSMUST00000121673
AA Change: G247V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: G247V
| 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: G525V
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: G525V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
| 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 damaging
Transcript: ENSMUST00000163987
AA Change: G247V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: G247V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 92.0%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
GC |
G |
11: 59,101,139 (GRCm39) |
|
probably null |
Het |
| Acvr1b |
C |
A |
15: 101,092,856 (GRCm39) |
D166E |
probably benign |
Het |
| Adgra2 |
T |
C |
8: 27,604,491 (GRCm39) |
I522T |
probably damaging |
Het |
| Adgre4 |
C |
T |
17: 56,099,013 (GRCm39) |
S173L |
probably benign |
Het |
| Akap9 |
A |
T |
5: 4,082,801 (GRCm39) |
Q1975L |
probably damaging |
Het |
| Ap3d1 |
T |
A |
10: 80,546,298 (GRCm39) |
M965L |
probably benign |
Het |
| Brca2 |
CATA |
CA |
5: 150,465,040 (GRCm39) |
|
probably null |
Het |
| Chd6 |
T |
C |
2: 160,807,502 (GRCm39) |
N1904S |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,408,623 (GRCm39) |
S896R |
possibly damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,824 (GRCm39) |
D155V |
probably damaging |
Het |
| Dct |
T |
C |
14: 118,273,876 (GRCm39) |
T344A |
possibly damaging |
Het |
| Dctn1 |
T |
A |
6: 83,170,673 (GRCm39) |
|
probably null |
Het |
| Dgkz |
T |
C |
2: 91,776,255 (GRCm39) |
T3A |
possibly damaging |
Het |
| Duoxa2 |
T |
C |
2: 122,132,332 (GRCm39) |
S249P |
possibly damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,189,156 (GRCm39) |
V82E |
probably damaging |
Het |
| Fcho1 |
A |
T |
8: 72,165,217 (GRCm39) |
|
probably null |
Het |
| Garin5b |
T |
A |
7: 4,761,143 (GRCm39) |
D523V |
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,422,800 (GRCm39) |
N22Y |
probably damaging |
Het |
| Kcnq1 |
T |
A |
7: 142,660,170 (GRCm39) |
|
probably benign |
Het |
| Kif7 |
T |
A |
7: 79,354,388 (GRCm39) |
Q799L |
probably benign |
Het |
| Lmnb1 |
T |
A |
18: 56,862,456 (GRCm39) |
L206* |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,206,306 (GRCm39) |
Y121C |
probably damaging |
Het |
| Mboat1 |
C |
A |
13: 30,408,509 (GRCm39) |
T224K |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,492,073 (GRCm39) |
E416G |
possibly damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,093 (GRCm39) |
I322N |
probably damaging |
Het |
| Nanog |
G |
A |
6: 122,690,350 (GRCm39) |
G227R |
possibly damaging |
Het |
| Nbn |
T |
C |
4: 15,981,347 (GRCm39) |
S480P |
probably damaging |
Het |
| Nek10 |
C |
A |
14: 14,865,633 (GRCm38) |
L638M |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,268,611 (GRCm39) |
V538A |
probably damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,745 (GRCm39) |
S69T |
probably benign |
Het |
| Or2b4 |
T |
G |
17: 38,116,312 (GRCm39) |
I92S |
probably damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,416 (GRCm39) |
I63V |
probably benign |
Het |
| Or5b97 |
T |
A |
19: 12,879,034 (GRCm39) |
T37S |
probably benign |
Het |
| Phf24 |
G |
A |
4: 42,938,780 (GRCm39) |
|
probably null |
Het |
| Pigz |
T |
C |
16: 31,764,528 (GRCm39) |
S529P |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,144 (GRCm39) |
E321G |
probably damaging |
Het |
| Plcb3 |
G |
A |
19: 6,933,547 (GRCm39) |
T926I |
probably benign |
Het |
| Pm20d2 |
G |
A |
4: 33,181,833 (GRCm39) |
P257S |
probably damaging |
Het |
| Pon2 |
A |
G |
6: 5,289,057 (GRCm39) |
V34A |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,110,855 (GRCm39) |
F76S |
possibly damaging |
Het |
| Prpf31 |
G |
A |
7: 3,642,668 (GRCm39) |
E414K |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,902,455 (GRCm39) |
L404Q |
probably damaging |
Het |
| Slc26a11 |
C |
T |
11: 119,265,654 (GRCm39) |
A389V |
probably damaging |
Het |
| Slc2a1 |
A |
T |
4: 118,993,539 (GRCm39) |
T459S |
possibly damaging |
Het |
| Spi1 |
T |
C |
2: 90,944,685 (GRCm39) |
L135P |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,463,720 (GRCm39) |
L3844P |
possibly damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,675,772 (GRCm39) |
T616S |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,712,896 (GRCm39) |
|
probably null |
Het |
| Synm |
G |
T |
7: 67,384,686 (GRCm39) |
A550D |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,787,373 (GRCm39) |
V891A |
possibly damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tlx1 |
A |
T |
19: 45,144,413 (GRCm39) |
Q45L |
probably damaging |
Het |
| Tmem104 |
C |
A |
11: 115,096,349 (GRCm39) |
Y191* |
probably null |
Het |
| Tmem17 |
A |
C |
11: 22,468,659 (GRCm39) |
*199C |
probably null |
Het |
| Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,027,256 (GRCm39) |
V538A |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,734,727 (GRCm39) |
D3250G |
possibly damaging |
Het |
| Usp4 |
A |
G |
9: 108,237,322 (GRCm39) |
H130R |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,302,665 (GRCm39) |
Q1773R |
probably benign |
Het |
| Zfp790 |
A |
G |
7: 29,528,970 (GRCm39) |
K552E |
possibly damaging |
Het |
| Zswim5 |
G |
A |
4: 116,808,106 (GRCm39) |
R230Q |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTGTCAGAAGTTAGTGCTTAAG -3'
(R):5'- ATGGTGTCATCCTTGTCTCAGAG -3'
Sequencing Primer
(F):5'- GTGCTTAAGTTTGCAGTCTTACAAG -3'
(R):5'- CTCAGAGTTAGTTAGATACTCCCTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation