Incidental Mutation 'R8193:Lonp2'
| ID |
635296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
067616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R8193 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87358091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 104
(G104V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000122188]
[ENSMUST00000155433]
|
| AlphaFold |
Q9DBN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034141
AA Change: G104V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: G104V
| 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: G104V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: G104V
| 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: G104V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: G104V
| 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 |
0.8287 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,213,517 (GRCm39) |
V48E |
possibly damaging |
Het |
| 4930522H14Rik |
A |
G |
4: 109,381,529 (GRCm39) |
L83S |
probably benign |
Het |
| Abhd18 |
C |
A |
3: 40,884,660 (GRCm39) |
T233K |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,022,273 (GRCm39) |
C406S |
probably damaging |
Het |
| Anp32e |
G |
A |
3: 95,836,710 (GRCm39) |
|
probably benign |
Het |
| Cd33 |
C |
T |
7: 43,181,696 (GRCm39) |
A155T |
possibly damaging |
Het |
| Cdc25c |
A |
T |
18: 34,882,675 (GRCm39) |
|
probably null |
Het |
| Cep350 |
A |
G |
1: 155,737,825 (GRCm39) |
S2673P |
probably benign |
Het |
| Chodl |
T |
C |
16: 78,738,412 (GRCm39) |
S127P |
probably damaging |
Het |
| Clstn2 |
A |
G |
9: 97,465,683 (GRCm39) |
S103P |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,117,888 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
A |
G |
2: 170,327,622 (GRCm39) |
L507P |
probably damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,284,373 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
T |
C |
1: 181,515,770 (GRCm39) |
Y1991H |
probably damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Edrf1 |
C |
T |
7: 133,263,606 (GRCm39) |
T971I |
possibly damaging |
Het |
| Ermap |
A |
G |
4: 119,041,140 (GRCm39) |
I290T |
possibly damaging |
Het |
| Eva1a |
A |
T |
6: 82,068,921 (GRCm39) |
S83C |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,804,276 (GRCm39) |
N1795Y |
probably damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,377 (GRCm39) |
H370R |
possibly damaging |
Het |
| Gabra1 |
A |
G |
11: 42,037,968 (GRCm39) |
Y217H |
probably damaging |
Het |
| Gm3086 |
A |
G |
12: 70,016,264 (GRCm39) |
N62S |
noncoding transcript |
Het |
| Hmcn1 |
A |
T |
1: 150,453,228 (GRCm39) |
Y5362* |
probably null |
Het |
| Igkv5-37 |
C |
A |
6: 69,940,796 (GRCm39) |
|
probably benign |
Het |
| Ints3 |
A |
G |
3: 90,307,929 (GRCm39) |
V647A |
possibly damaging |
Het |
| Itga1 |
A |
G |
13: 115,104,991 (GRCm39) |
|
probably null |
Het |
| Limk2 |
T |
C |
11: 3,297,691 (GRCm39) |
K481E |
possibly damaging |
Het |
| Lpar5 |
T |
C |
6: 125,058,302 (GRCm39) |
S8P |
probably benign |
Het |
| Map2k7 |
T |
C |
8: 4,294,059 (GRCm39) |
F202L |
probably benign |
Het |
| Mark1 |
T |
G |
1: 184,660,249 (GRCm39) |
M136L |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,775,973 (GRCm39) |
S590P |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,483,010 (GRCm39) |
V1429A |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,292,640 (GRCm39) |
Y1097* |
probably null |
Het |
| Ncf4 |
T |
C |
15: 78,146,466 (GRCm39) |
S299P |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,642,214 (GRCm39) |
D68G |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,692,037 (GRCm39) |
S154P |
possibly damaging |
Het |
| Nrp1 |
G |
T |
8: 129,187,187 (GRCm39) |
W411L |
probably damaging |
Het |
| Or10d1b |
T |
C |
9: 39,613,498 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or4c105 |
T |
A |
2: 88,647,803 (GRCm39) |
M96K |
probably damaging |
Het |
| Or5t18 |
T |
G |
2: 86,637,209 (GRCm39) |
I45L |
noncoding transcript |
Het |
| Or8g2b |
T |
C |
9: 39,750,757 (GRCm39) |
I9T |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,616,305 (GRCm39) |
V150A |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,563,415 (GRCm39) |
V574A |
possibly damaging |
Het |
| Prex1 |
C |
A |
2: 166,435,780 (GRCm39) |
R589L |
possibly damaging |
Het |
| Prl7d1 |
A |
G |
13: 27,893,230 (GRCm39) |
V227A |
|
Het |
| Prpf40b |
T |
A |
15: 99,201,949 (GRCm39) |
F16I |
unknown |
Het |
| Rasa2 |
G |
A |
9: 96,484,791 (GRCm39) |
P141L |
probably damaging |
Het |
| Rtl1 |
A |
G |
12: 109,558,650 (GRCm39) |
V1063A |
probably benign |
Het |
| Sema4d |
A |
T |
13: 51,859,192 (GRCm39) |
C512* |
probably null |
Het |
| Slc19a2 |
A |
G |
1: 164,084,794 (GRCm39) |
N228S |
probably benign |
Het |
| Tcf4 |
A |
T |
18: 69,633,994 (GRCm39) |
|
probably benign |
Het |
| Tnks2 |
T |
C |
19: 36,832,353 (GRCm39) |
V264A |
possibly damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,741,012 (GRCm39) |
E746G |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,766,903 (GRCm39) |
D268G |
probably damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,752 (GRCm39) |
Y212* |
probably null |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,102 (GRCm39) |
C10* |
probably null |
Het |
| Vmn2r113 |
G |
T |
17: 23,164,501 (GRCm39) |
V135F |
probably benign |
Het |
| Vps54 |
T |
C |
11: 21,242,045 (GRCm39) |
F387L |
probably benign |
Het |
| Xab2 |
A |
C |
8: 3,663,389 (GRCm39) |
D450E |
probably benign |
Het |
| Zfp408 |
G |
T |
2: 91,475,361 (GRCm39) |
R598S |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,298,038 (GRCm39) |
C225S |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,861 (GRCm39) |
K129* |
probably null |
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 |
|
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 |
|
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'- TTCTGTATGCAGCCACCACAC -3'
(R):5'- GTCATCTGACCTCAAGACAGC -3'
Sequencing Primer
(F):5'- ACCTGGCCAAATCAGCACTTTTTG -3'
(R):5'- TTTTAAGGGGAAGTAGAACCACCCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation