Incidental Mutation 'R8057:Lonp2'
| ID |
619454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
067494-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R8057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87440717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 778
(L778P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000121673]
[ENSMUST00000122188]
[ENSMUST00000155433]
[ENSMUST00000163987]
|
| AlphaFold |
Q9DBN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034141
AA Change: L778P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: L778P
| 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: L358P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: L358P
| 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: L636P
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: L636P
| 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: L358P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: L358P
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (81/81) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,826 (GRCm39) |
L32P |
probably damaging |
Het |
| 4930563M21Rik |
T |
C |
9: 55,916,564 (GRCm39) |
T38A |
unknown |
Het |
| Abcb6 |
T |
C |
1: 75,151,002 (GRCm39) |
N563D |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,317,850 (GRCm39) |
F140S |
probably damaging |
Het |
| Arhgap27 |
T |
A |
11: 103,229,519 (GRCm39) |
R296S |
probably damaging |
Het |
| Atxn7l1 |
A |
C |
12: 33,376,001 (GRCm39) |
K98N |
probably damaging |
Het |
| Bex6 |
G |
T |
16: 32,005,224 (GRCm39) |
D11Y |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,228,489 (GRCm39) |
D781G |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,092,936 (GRCm39) |
D800G |
probably benign |
Het |
| Carmil2 |
G |
A |
8: 106,419,008 (GRCm39) |
V716I |
probably benign |
Het |
| Cdk5 |
C |
A |
5: 24,625,782 (GRCm39) |
D144Y |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,880,925 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,450,829 (GRCm39) |
L651Q |
probably damaging |
Het |
| Cimap1d |
T |
A |
10: 79,475,835 (GRCm39) |
H243L |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,368,233 (GRCm39) |
Q261* |
probably null |
Het |
| Cntnap2 |
T |
A |
6: 46,324,079 (GRCm39) |
F576Y |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,925,263 (GRCm39) |
G815D |
unknown |
Het |
| Col4a4 |
T |
A |
1: 82,501,591 (GRCm39) |
R387S |
unknown |
Het |
| Cse1l |
T |
A |
2: 166,781,845 (GRCm39) |
V663D |
probably damaging |
Het |
| Csf2rb2 |
G |
T |
15: 78,169,206 (GRCm39) |
Q650K |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,847,497 (GRCm39) |
D696G |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,728,112 (GRCm39) |
C2937S |
possibly damaging |
Het |
| Epha10 |
A |
T |
4: 124,796,476 (GRCm39) |
Q395L |
|
Het |
| Fam167a |
T |
A |
14: 63,689,769 (GRCm39) |
V22E |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gabra4 |
A |
G |
5: 71,781,295 (GRCm39) |
I372T |
probably benign |
Het |
| Gpt |
A |
G |
15: 76,580,972 (GRCm39) |
|
probably benign |
Het |
| H2-K2 |
C |
T |
17: 34,215,833 (GRCm39) |
G336D |
possibly damaging |
Het |
| Hapstr1 |
C |
T |
16: 8,648,232 (GRCm39) |
|
probably benign |
Het |
| Hoxd8 |
T |
C |
2: 74,535,070 (GRCm39) |
|
probably null |
Het |
| Ilrun |
C |
T |
17: 27,986,863 (GRCm39) |
A288T |
unknown |
Het |
| Kdm5d |
T |
G |
Y: 927,355 (GRCm39) |
D658E |
possibly damaging |
Het |
| Krt25 |
G |
A |
11: 99,208,169 (GRCm39) |
T353M |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,764,875 (GRCm39) |
Q723* |
probably null |
Het |
| Mak |
T |
A |
13: 41,202,813 (GRCm39) |
I212F |
probably damaging |
Het |
| Mastl |
T |
A |
2: 23,023,566 (GRCm39) |
R386W |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,195,673 (GRCm39) |
I697T |
possibly damaging |
Het |
| Nek5 |
G |
A |
8: 22,578,922 (GRCm39) |
T415I |
probably benign |
Het |
| Neu3 |
T |
A |
7: 99,463,435 (GRCm39) |
N96I |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,290,107 (GRCm39) |
V153A |
possibly damaging |
Het |
| Or10a3 |
A |
T |
7: 108,480,571 (GRCm39) |
F81I |
probably damaging |
Het |
| Or5b102 |
G |
A |
19: 13,040,638 (GRCm39) |
|
probably benign |
Het |
| Or8b4 |
A |
G |
9: 37,830,460 (GRCm39) |
D169G |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,644,476 (GRCm39) |
T1257A |
probably benign |
Het |
| Pcdh10 |
G |
A |
3: 45,333,694 (GRCm39) |
V3M |
probably benign |
Het |
| Pitpnm1 |
G |
A |
19: 4,162,145 (GRCm39) |
R1017Q |
probably null |
Het |
| Plcb3 |
A |
C |
19: 6,932,463 (GRCm39) |
H1065Q |
probably benign |
Het |
| Plcb3 |
A |
T |
19: 6,936,267 (GRCm39) |
M752K |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,557 (GRCm39) |
E1449G |
probably benign |
Het |
| Plekha4 |
T |
A |
7: 45,198,695 (GRCm39) |
C573S |
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,575,638 (GRCm39) |
I304V |
possibly damaging |
Het |
| Pnp2 |
G |
A |
14: 51,201,838 (GRCm39) |
V275I |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,908,644 (GRCm39) |
A490T |
possibly damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,883,354 (GRCm39) |
F56S |
probably damaging |
Het |
| Ptk2 |
GA |
G |
15: 73,170,048 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
C |
A |
1: 6,315,443 (GRCm39) |
R473S |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,976,946 (GRCm39) |
V65A |
probably damaging |
Het |
| Rpl27rt |
T |
C |
18: 34,870,582 (GRCm39) |
F39L |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,055 (GRCm39) |
|
probably null |
Het |
| Samd5 |
C |
T |
10: 9,550,641 (GRCm39) |
V23M |
probably damaging |
Het |
| Scn9a |
T |
G |
2: 66,345,774 (GRCm39) |
R1117S |
probably benign |
Het |
| Scrn1 |
T |
A |
6: 54,497,758 (GRCm39) |
I278L |
probably benign |
Het |
| Sec31b |
G |
T |
19: 44,507,804 (GRCm39) |
P747T |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,269 (GRCm39) |
V823E |
probably damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,400,619 (GRCm39) |
N201S |
probably damaging |
Het |
| Slc30a3 |
C |
A |
5: 31,247,395 (GRCm39) |
|
probably benign |
Het |
| Snx31 |
C |
A |
15: 36,523,606 (GRCm39) |
V359F |
probably damaging |
Het |
| Sstr2 |
A |
G |
11: 113,515,099 (GRCm39) |
E6G |
probably benign |
Het |
| Stc2 |
C |
A |
11: 31,317,806 (GRCm39) |
E72* |
probably null |
Het |
| Tead1 |
C |
T |
7: 112,358,721 (GRCm39) |
P11L |
probably benign |
Het |
| Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,118,972 (GRCm39) |
K301* |
probably null |
Het |
| Tns3 |
G |
C |
11: 8,442,773 (GRCm39) |
A530G |
probably benign |
Het |
| Trat1 |
T |
C |
16: 48,562,600 (GRCm39) |
D70G |
probably damaging |
Het |
| Trex1 |
T |
A |
9: 108,887,397 (GRCm39) |
E198V |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,570,072 (GRCm39) |
R26940S |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,867,835 (GRCm39) |
K34R |
possibly damaging |
Het |
| Vps13d |
A |
C |
4: 144,701,753 (GRCm39) |
M4376R |
|
Het |
| Zfp157 |
C |
A |
5: 138,454,336 (GRCm39) |
T178K |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,710,692 (GRCm39) |
V805D |
possibly 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 |
|
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 |
|
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'- GATCTTCTTGACAACACAGACATCC -3'
(R):5'- GCAGGCATTCTGATGAACG -3'
Sequencing Primer
(F):5'- GACATCCATCTGCACTTCCCAG -3'
(R):5'- GGCTGATTTTTCTATAACCACACTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation