Incidental Mutation 'R5884:Lonp2'
| ID |
454576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
044087-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R5884 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87368254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 356
(Y356C)
|
| 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: Y356C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: Y356C
| 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 |
unknown
Transcript: ENSMUST00000122188
AA Change: Y214C
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: Y214C
| 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 damaging
Transcript: ENSMUST00000155433
AA Change: Y356C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: Y356C
| 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 |
0.8332 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.6%
- 20x: 82.8%
|
| Validation Efficiency |
96% (66/69) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp5 |
T |
C |
9: 75,805,836 (GRCm39) |
M446T |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,328,693 (GRCm39) |
A1052T |
probably damaging |
Het |
| Cand1 |
C |
T |
10: 119,049,670 (GRCm39) |
A359T |
possibly damaging |
Het |
| Ccne2 |
A |
T |
4: 11,199,411 (GRCm39) |
T271S |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,461,142 (GRCm39) |
T546A |
probably damaging |
Het |
| Ces1g |
A |
G |
8: 94,033,558 (GRCm39) |
S455P |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,141,269 (GRCm39) |
C496S |
probably benign |
Het |
| Dtx3l |
C |
G |
16: 35,752,603 (GRCm39) |
E668Q |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,163,063 (GRCm39) |
F1579I |
probably damaging |
Het |
| Emx2 |
T |
G |
19: 59,452,461 (GRCm39) |
D248E |
probably damaging |
Het |
| Eri2 |
A |
C |
7: 119,371,552 (GRCm39) |
*275E |
probably null |
Het |
| F5 |
G |
A |
1: 164,023,215 (GRCm39) |
R1591H |
probably benign |
Het |
| Fabp3 |
A |
G |
4: 130,206,131 (GRCm39) |
T41A |
probably benign |
Het |
| Fam89a |
C |
T |
8: 125,478,508 (GRCm39) |
R14H |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,763 (GRCm39) |
|
probably null |
Het |
| Golga3 |
A |
G |
5: 110,364,761 (GRCm39) |
E1211G |
probably damaging |
Het |
| Gpa33 |
T |
C |
1: 165,980,329 (GRCm39) |
S131P |
probably damaging |
Het |
| Hyal6 |
T |
C |
6: 24,743,368 (GRCm39) |
Y355H |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,249,552 (GRCm39) |
|
probably null |
Het |
| Ighv5-21 |
A |
T |
12: 114,283,806 (GRCm39) |
|
probably benign |
Het |
| Iglc1 |
A |
T |
16: 18,880,741 (GRCm39) |
|
probably benign |
Het |
| Impa1 |
A |
T |
3: 10,381,284 (GRCm39) |
N199K |
probably damaging |
Het |
| Irx5 |
A |
C |
8: 93,087,258 (GRCm39) |
T397P |
possibly damaging |
Het |
| Matn4 |
A |
T |
2: 164,246,528 (GRCm39) |
|
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Nav2 |
T |
A |
7: 49,246,917 (GRCm39) |
Y2147* |
probably null |
Het |
| Nek5 |
C |
T |
8: 22,578,817 (GRCm39) |
|
probably null |
Het |
| Omt2b |
A |
G |
9: 78,235,839 (GRCm39) |
M55V |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,924,140 (GRCm39) |
Y47H |
probably damaging |
Het |
| Or6z1 |
C |
A |
7: 6,504,842 (GRCm39) |
V128L |
probably benign |
Het |
| Or9g8 |
T |
A |
2: 85,607,399 (GRCm39) |
I157K |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,852,207 (GRCm39) |
H796Q |
probably damaging |
Het |
| Pex2 |
T |
C |
3: 5,626,359 (GRCm39) |
E150G |
probably benign |
Het |
| Poglut2 |
T |
C |
1: 44,156,260 (GRCm39) |
N109S |
probably benign |
Het |
| Psmb2 |
T |
A |
4: 126,578,014 (GRCm39) |
V64E |
possibly damaging |
Het |
| Psmd6 |
C |
T |
14: 14,116,526 (GRCm38) |
R63H |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,900,927 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,763,967 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
GAAAAGGAAACTATTTAAAA |
GAAAA |
12: 11,507,534 (GRCm39) |
|
probably benign |
Het |
| Reg1 |
C |
T |
6: 78,405,200 (GRCm39) |
S141L |
possibly damaging |
Het |
| Rock1 |
A |
T |
18: 10,099,361 (GRCm39) |
I680K |
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,569,328 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,226,722 (GRCm39) |
Q615L |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,334,245 (GRCm39) |
K424E |
probably benign |
Het |
| Tctn2 |
A |
T |
5: 124,741,895 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem87a |
T |
A |
2: 120,234,605 (GRCm39) |
|
probably benign |
Het |
| Trappc4 |
A |
G |
9: 44,315,385 (GRCm39) |
F198L |
probably damaging |
Het |
| Usp33 |
C |
T |
3: 152,073,967 (GRCm39) |
T271I |
probably benign |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,993 (GRCm39) |
I287K |
probably damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,578 (GRCm39) |
I305R |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,015,106 (GRCm39) |
|
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,156,295 (GRCm39) |
S684P |
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 |
|
|
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'- CATTGCAAGTGATGTGATTTGAGAATG -3'
(R):5'- TCGAATGTCAGACTGGTCAC -3'
Sequencing Primer
(F):5'- AAGCATCATCTCAGTTGAGGGTTCC -3'
(R):5'- TGTCAGACTGGTCACACACAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation