Incidental Mutation 'R5790:Lonp2'
ID |
448278 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lonp2
|
Ensembl Gene |
ENSMUSG00000047866 |
Gene Name |
lon peptidase 2, peroxisomal |
Synonyms |
1300002A08Rik |
MMRRC Submission |
043384-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
R5790 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87358118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 113
(V113A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000122188]
[ENSMUST00000155433]
|
AlphaFold |
Q9DBN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034141
AA Change: V113A
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034141 Gene: ENSMUSG00000047866 AA Change: V113A
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
AA Change: V113A
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113834 Gene: ENSMUSG00000047866 AA Change: V113A
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 benign
Transcript: ENSMUST00000155433
AA Change: V113A
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118737 Gene: ENSMUSG00000047866 AA Change: V113A
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
|
Meta Mutation Damage Score |
0.0970 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
99% (73/74) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
A |
T |
5: 31,051,702 (GRCm39) |
R633* |
probably null |
Het |
Ahnak |
T |
C |
19: 8,992,612 (GRCm39) |
V4632A |
probably damaging |
Het |
Asap1 |
T |
A |
15: 63,966,114 (GRCm39) |
D997V |
probably damaging |
Het |
Atad2 |
T |
C |
15: 57,989,990 (GRCm39) |
Y162C |
probably damaging |
Het |
Atp2b2 |
G |
T |
6: 113,736,270 (GRCm39) |
S936R |
probably damaging |
Het |
Bcl11a |
T |
A |
11: 24,113,650 (GRCm39) |
L331Q |
probably damaging |
Het |
C6 |
T |
A |
15: 4,792,968 (GRCm39) |
F358I |
probably damaging |
Het |
Capn15 |
C |
T |
17: 26,183,521 (GRCm39) |
S386N |
probably benign |
Het |
Ccdc66 |
G |
A |
14: 27,222,404 (GRCm39) |
T113I |
possibly damaging |
Het |
Cd200 |
G |
T |
16: 45,217,621 (GRCm39) |
H23Q |
possibly damaging |
Het |
Cdh17 |
A |
G |
4: 11,814,945 (GRCm39) |
|
probably null |
Het |
Ces2b |
C |
T |
8: 105,560,568 (GRCm39) |
P128S |
probably damaging |
Het |
Ces3b |
A |
T |
8: 105,819,270 (GRCm39) |
Q442L |
probably damaging |
Het |
Chil4 |
T |
C |
3: 106,109,894 (GRCm39) |
H373R |
probably benign |
Het |
Ciapin1 |
C |
A |
8: 95,551,811 (GRCm39) |
|
probably benign |
Het |
Cnot10 |
A |
C |
9: 114,454,985 (GRCm39) |
|
probably null |
Het |
Cpq |
A |
G |
15: 33,250,143 (GRCm39) |
K167E |
probably damaging |
Het |
Dennd4b |
T |
A |
3: 90,184,757 (GRCm39) |
D1118E |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 31,093,978 (GRCm39) |
C4691S |
probably damaging |
Het |
Dnajc1 |
A |
G |
2: 18,311,898 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,304,981 (GRCm39) |
R341H |
probably damaging |
Het |
Dock10 |
G |
T |
1: 80,482,887 (GRCm39) |
T2145K |
probably benign |
Het |
Eif3b |
T |
C |
5: 140,427,886 (GRCm39) |
V736A |
probably benign |
Het |
Eno1 |
G |
T |
4: 150,329,710 (GRCm39) |
V195L |
probably benign |
Het |
Ewsr1 |
C |
T |
11: 5,032,263 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,209,768 (GRCm39) |
T1038A |
probably benign |
Het |
Gabrb1 |
T |
C |
5: 72,293,827 (GRCm39) |
I367T |
possibly damaging |
Het |
Gigyf1 |
C |
T |
5: 137,522,517 (GRCm39) |
|
probably benign |
Het |
Glp2r |
T |
A |
11: 67,655,625 (GRCm39) |
Y39F |
probably damaging |
Het |
Gm10036 |
T |
A |
18: 15,966,243 (GRCm39) |
Y131* |
probably null |
Het |
Gm38706 |
T |
C |
6: 130,461,961 (GRCm39) |
|
noncoding transcript |
Het |
Gna15 |
G |
A |
10: 81,345,218 (GRCm39) |
R216C |
probably damaging |
Het |
Grin3a |
A |
G |
4: 49,792,717 (GRCm39) |
F339L |
probably damaging |
Het |
Grk3 |
T |
G |
5: 113,114,842 (GRCm39) |
K126T |
possibly damaging |
Het |
Hspa1l |
T |
C |
17: 35,196,216 (GRCm39) |
V85A |
probably benign |
Het |
Iqsec1 |
A |
T |
6: 90,666,862 (GRCm39) |
L525* |
probably null |
Het |
Irx3 |
T |
C |
8: 92,526,304 (GRCm39) |
T467A |
probably benign |
Het |
Itga2 |
G |
A |
13: 115,004,742 (GRCm39) |
T530I |
probably benign |
Het |
Msx3 |
C |
T |
7: 139,628,866 (GRCm39) |
R16H |
possibly damaging |
Het |
Nek3 |
C |
A |
8: 22,621,313 (GRCm39) |
Q405H |
probably damaging |
Het |
Nek3 |
T |
A |
8: 22,621,314 (GRCm39) |
Q403L |
probably damaging |
Het |
Or2b6 |
T |
C |
13: 21,823,046 (GRCm39) |
T216A |
probably benign |
Het |
Or6c66 |
A |
G |
10: 129,461,757 (GRCm39) |
Y58H |
probably damaging |
Het |
P4ha1 |
A |
G |
10: 59,190,184 (GRCm39) |
N367S |
probably benign |
Het |
Padi6 |
C |
A |
4: 140,459,569 (GRCm39) |
G429C |
probably damaging |
Het |
Pidd1 |
T |
C |
7: 141,021,305 (GRCm39) |
|
probably benign |
Het |
Plekhg5 |
T |
C |
4: 152,198,392 (GRCm39) |
V847A |
probably benign |
Het |
Polr3e |
A |
G |
7: 120,527,190 (GRCm39) |
D56G |
probably damaging |
Het |
Pomt2 |
T |
G |
12: 87,174,152 (GRCm39) |
N347T |
probably damaging |
Het |
Ppp1r9a |
T |
C |
6: 5,134,363 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
A |
T |
5: 28,544,296 (GRCm39) |
D184V |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,544,441 (GRCm39) |
T1431S |
probably damaging |
Het |
Saal1 |
T |
C |
7: 46,351,352 (GRCm39) |
D208G |
probably damaging |
Het |
Sis |
T |
C |
3: 72,835,507 (GRCm39) |
I952V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,640,997 (GRCm39) |
D214E |
probably benign |
Het |
Slc30a8 |
T |
C |
15: 52,197,043 (GRCm39) |
V318A |
possibly damaging |
Het |
Smarca2 |
A |
G |
19: 26,654,124 (GRCm39) |
T770A |
probably damaging |
Het |
Sptbn4 |
T |
A |
7: 27,065,853 (GRCm39) |
H2031L |
probably damaging |
Het |
Ssbp1 |
A |
G |
6: 40,457,804 (GRCm39) |
S141G |
probably benign |
Het |
Tgm4 |
A |
G |
9: 122,890,808 (GRCm39) |
E45G |
probably damaging |
Het |
Thra |
T |
A |
11: 98,653,777 (GRCm39) |
S203T |
probably benign |
Het |
Tle2 |
T |
C |
10: 81,426,149 (GRCm39) |
Y763H |
probably damaging |
Het |
Tmem141 |
T |
A |
2: 25,511,087 (GRCm39) |
I102L |
probably benign |
Het |
Tmem63c |
C |
T |
12: 87,104,410 (GRCm39) |
T77I |
probably benign |
Het |
Tspo2 |
C |
A |
17: 48,756,047 (GRCm39) |
|
probably null |
Het |
Ttc19 |
T |
A |
11: 62,172,340 (GRCm39) |
M1K |
probably null |
Het |
Ucp1 |
A |
G |
8: 84,024,520 (GRCm39) |
N282D |
possibly damaging |
Het |
Vmn1r33 |
A |
T |
6: 66,589,198 (GRCm39) |
F119I |
probably benign |
Het |
Vmn2r24 |
A |
T |
6: 123,792,499 (GRCm39) |
M609L |
probably benign |
Het |
Vwc2l |
A |
T |
1: 70,790,142 (GRCm39) |
H146L |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGGCCAAATCAGCACTTTT -3'
(R):5'- GCTTCATTACCCAACAGAGTCATC -3'
Sequencing Primer
(F):5'- GCCAAATCAGCACTTTTTGAAGGG -3'
(R):5'- GAGTCATCTGACCTCAAGACAG -3'
|
Posted On |
2016-12-15 |