Incidental Mutation 'R7330:Lonp2'
| ID |
569181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
045423-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R7330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87358022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 81
(T81K)
|
| 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: T81K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: T81K
| 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: T81K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: T81K
| 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: T81K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: T81K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 |
|---|
| Acaa1b |
T |
C |
9: 118,977,450 (GRCm39) |
T411A |
possibly damaging |
Het |
| Ace |
A |
G |
11: 105,876,887 (GRCm39) |
H1123R |
probably damaging |
Het |
| Acot12 |
T |
A |
13: 91,889,651 (GRCm39) |
M1K |
probably null |
Het |
| Actr2 |
A |
T |
11: 20,022,544 (GRCm39) |
M309K |
probably damaging |
Het |
| Ahsa2 |
G |
T |
11: 23,440,558 (GRCm39) |
T279K |
probably benign |
Het |
| Ak8 |
A |
G |
2: 28,702,947 (GRCm39) |
Y437C |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,700,577 (GRCm39) |
K5* |
probably null |
Het |
| Bbs2 |
T |
A |
8: 94,814,033 (GRCm39) |
E195V |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,949,446 (GRCm39) |
Y1505F |
probably damaging |
Het |
| Camkk1 |
C |
G |
11: 72,917,873 (GRCm39) |
N147K |
probably damaging |
Het |
| Cdh18 |
G |
A |
15: 23,227,036 (GRCm39) |
V166I |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,754,592 (GRCm39) |
C356* |
probably null |
Het |
| Cilp |
A |
T |
9: 65,187,527 (GRCm39) |
R1207S |
probably benign |
Het |
| Clcnkb |
A |
G |
4: 141,137,923 (GRCm39) |
I291T |
possibly damaging |
Het |
| Clrn3 |
G |
T |
7: 135,130,198 (GRCm39) |
S12Y |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,343,422 (GRCm39) |
A675D |
probably benign |
Het |
| Cpvl |
A |
G |
6: 53,951,744 (GRCm39) |
I13T |
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,634 (GRCm39) |
I452T |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,792,291 (GRCm39) |
V239A |
probably damaging |
Het |
| Edar |
T |
G |
10: 58,446,376 (GRCm39) |
H183P |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,035,764 (GRCm39) |
S67T |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,139,900 (GRCm39) |
L168P |
probably benign |
Het |
| Grm4 |
C |
T |
17: 27,653,798 (GRCm39) |
W717* |
probably null |
Het |
| Gtf3c1 |
T |
C |
7: 125,303,055 (GRCm39) |
I127V |
probably benign |
Het |
| Igkv4-72 |
C |
T |
6: 69,204,087 (GRCm39) |
A35T |
probably damaging |
Het |
| Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,922,452 (GRCm39) |
D168G |
possibly damaging |
Het |
| Itpr1 |
G |
A |
6: 108,415,292 (GRCm39) |
R1742H |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,635,641 (GRCm39) |
T58S |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,296,311 (GRCm39) |
K566E |
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,723,685 (GRCm39) |
N2540K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,901,553 (GRCm39) |
D769E |
unknown |
Het |
| Neb |
C |
T |
2: 52,079,715 (GRCm39) |
V5780M |
possibly damaging |
Het |
| Or1j18 |
T |
A |
2: 36,625,057 (GRCm39) |
C241* |
probably null |
Het |
| Or5d35 |
C |
A |
2: 87,855,265 (GRCm39) |
H66Q |
possibly damaging |
Het |
| Or6c8b |
C |
T |
10: 128,882,333 (GRCm39) |
V200M |
probably damaging |
Het |
| Or7g25 |
T |
A |
9: 19,160,567 (GRCm39) |
I43F |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,901,439 (GRCm39) |
V757A |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,642,854 (GRCm39) |
T448A |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,668,244 (GRCm39) |
M694K |
possibly damaging |
Het |
| Ropn1l |
T |
C |
15: 31,451,349 (GRCm39) |
Y45C |
|
Het |
| Selenbp1 |
T |
A |
3: 94,847,021 (GRCm39) |
D182E |
probably benign |
Het |
| Son |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
16: 91,453,486 (GRCm39) |
|
probably benign |
Het |
| Spef1 |
G |
A |
2: 131,014,653 (GRCm39) |
R90W |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,452,396 (GRCm39) |
S2787G |
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,645,271 (GRCm39) |
S730P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,078,434 (GRCm39) |
N997S |
probably benign |
Het |
| Tipin |
A |
G |
9: 64,195,508 (GRCm39) |
D38G |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,032,956 (GRCm39) |
K484M |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
A |
AAGTAC |
6: 113,376,125 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,747,355 (GRCm39) |
V4565I |
probably benign |
Het |
| Ubr7 |
A |
G |
12: 102,741,971 (GRCm39) |
I402V |
probably damaging |
Het |
| Ucn3 |
A |
T |
13: 3,991,216 (GRCm39) |
N145K |
possibly damaging |
Het |
| Utp18 |
A |
T |
11: 93,772,899 (GRCm39) |
|
probably null |
Het |
| Utp20 |
GAA |
GA |
10: 88,623,424 (GRCm39) |
|
probably null |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,711 (GRCm39) |
I42T |
possibly damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,326,429 (GRCm39) |
M238T |
probably damaging |
Het |
| Washc5 |
G |
T |
15: 59,205,516 (GRCm39) |
A1125D |
probably benign |
Het |
| Wsb2 |
A |
G |
5: 117,508,827 (GRCm39) |
E87G |
probably damaging |
Het |
| Zfat |
G |
A |
15: 68,084,600 (GRCm39) |
P97L |
probably benign |
Het |
| Zfp87 |
T |
G |
13: 74,523,153 (GRCm39) |
T22P |
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 |
|
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 |
|
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'- GCTCGGTCCATCTAGCTTTG -3'
(R):5'- TGCACTGCGTATCTGTAGAATTG -3'
Sequencing Primer
(F):5'- AGCTTTGCTGCATCTAACCAAG -3'
(R):5'- CGTATCTGTAGAATTGCTCTGACAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation