Incidental Mutation 'R7641:Lonp2'
ID |
590250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lonp2
|
Ensembl Gene |
ENSMUSG00000047866 |
Gene Name |
lon peptidase 2, peroxisomal |
Synonyms |
1300002A08Rik |
MMRRC Submission |
045699-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R7641 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87392386 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 484
(Q484L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034141
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000121673]
[ENSMUST00000122188]
[ENSMUST00000155433]
[ENSMUST00000163987]
|
AlphaFold |
Q9DBN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034141
AA Change: Q484L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000034141 Gene: ENSMUSG00000047866 AA Change: Q484L
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: ENSMUST00000121673
AA Change: Q64L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000113381 Gene: ENSMUSG00000047866 AA Change: Q64L
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: Q342L
|
SMART Domains |
Protein: ENSMUSP00000113834 Gene: ENSMUSG00000047866 AA Change: Q342L
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
AA Change: Q484L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000118737 Gene: ENSMUSG00000047866 AA Change: Q484L
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 benign
Transcript: ENSMUST00000163987
AA Change: Q64L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000127938 Gene: ENSMUSG00000047866 AA Change: Q64L
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 |
|
Meta Mutation Damage Score |
0.4365 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (52/52) |
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 |
Adam1a |
T |
A |
5: 121,657,370 (GRCm39) |
Q641L |
probably benign |
Het |
Aknad1 |
A |
T |
3: 108,679,291 (GRCm39) |
H474L |
probably benign |
Het |
Alkal1 |
A |
T |
1: 6,459,712 (GRCm39) |
Y96F |
probably damaging |
Het |
Cars1 |
A |
G |
7: 143,140,840 (GRCm39) |
|
probably null |
Het |
Chtf18 |
A |
T |
17: 25,941,249 (GRCm39) |
|
probably null |
Het |
Cog2 |
C |
A |
8: 125,264,621 (GRCm39) |
N333K |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,758,625 (GRCm39) |
R2194* |
probably null |
Het |
Dnah14 |
A |
T |
1: 181,535,098 (GRCm39) |
I2355L |
probably benign |
Het |
Dock8 |
G |
A |
19: 25,151,697 (GRCm39) |
|
probably null |
Het |
Dpy19l3 |
A |
C |
7: 35,394,734 (GRCm39) |
D601E |
probably damaging |
Het |
Elf1 |
G |
A |
14: 79,808,163 (GRCm39) |
G205E |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,817,256 (GRCm39) |
K4330* |
probably null |
Het |
Gm6525 |
A |
T |
3: 84,082,150 (GRCm39) |
T24S |
probably benign |
Het |
Golga4 |
G |
T |
9: 118,386,643 (GRCm39) |
R1255L |
probably benign |
Het |
Gpn2 |
A |
T |
4: 133,315,970 (GRCm39) |
Q243L |
probably null |
Het |
Grb10 |
T |
C |
11: 11,883,492 (GRCm39) |
K588E |
possibly damaging |
Het |
Gys1 |
T |
C |
7: 45,104,495 (GRCm39) |
S641P |
probably damaging |
Het |
H2-M5 |
T |
A |
17: 37,298,323 (GRCm39) |
M331L |
probably benign |
Het |
Ighv6-6 |
T |
A |
12: 114,398,837 (GRCm39) |
I10L |
probably benign |
Het |
Jmy |
C |
T |
13: 93,579,107 (GRCm39) |
R675Q |
probably damaging |
Het |
Map3k20 |
T |
A |
2: 72,228,705 (GRCm39) |
L308H |
probably damaging |
Het |
Mep1b |
T |
C |
18: 21,228,034 (GRCm39) |
F546L |
possibly damaging |
Het |
Mier1 |
A |
G |
4: 102,996,637 (GRCm39) |
E133G |
possibly damaging |
Het |
Msh3 |
C |
A |
13: 92,349,011 (GRCm39) |
V1074L |
probably benign |
Het |
Muc6 |
A |
T |
7: 141,224,247 (GRCm39) |
L1645Q |
unknown |
Het |
Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
Pdyn |
A |
T |
2: 129,531,748 (GRCm39) |
V14E |
possibly damaging |
Het |
Prdm16 |
T |
A |
4: 154,429,901 (GRCm39) |
H356L |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,634,961 (GRCm39) |
C453R |
probably benign |
Het |
Rasgrf2 |
C |
T |
13: 92,267,914 (GRCm39) |
S30N |
possibly damaging |
Het |
Rlf |
A |
G |
4: 121,016,393 (GRCm39) |
S315P |
probably damaging |
Het |
Rusc2 |
C |
T |
4: 43,425,335 (GRCm39) |
R1147W |
possibly damaging |
Het |
Sacs |
T |
A |
14: 61,440,320 (GRCm39) |
Y789N |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,786,676 (GRCm39) |
L289P |
probably damaging |
Het |
Septin3 |
A |
G |
15: 82,174,983 (GRCm39) |
Y308C |
probably damaging |
Het |
Slc2a12 |
A |
G |
10: 22,569,893 (GRCm39) |
D528G |
probably damaging |
Het |
Slc2a13 |
A |
G |
15: 91,156,359 (GRCm39) |
*638Q |
probably null |
Het |
Smchd1 |
T |
A |
17: 71,697,474 (GRCm39) |
E1155D |
probably benign |
Het |
Sorcs2 |
G |
A |
5: 36,555,296 (GRCm39) |
R32C |
probably damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Tonsl |
C |
T |
15: 76,517,852 (GRCm39) |
D650N |
probably damaging |
Het |
Tti1 |
A |
T |
2: 157,850,949 (GRCm39) |
F97I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,572,554 (GRCm39) |
Q26113R |
possibly damaging |
Het |
Unc5d |
A |
T |
8: 29,210,003 (GRCm39) |
N444K |
probably damaging |
Het |
Usp17la |
A |
T |
7: 104,510,654 (GRCm39) |
K420* |
probably null |
Het |
Vmn2r114 |
T |
C |
17: 23,527,177 (GRCm39) |
N452D |
possibly damaging |
Het |
Vps16 |
T |
C |
2: 130,282,448 (GRCm39) |
V427A |
probably benign |
Het |
Wdr5b |
T |
A |
16: 35,862,712 (GRCm39) |
V277D |
probably damaging |
Het |
Zan |
T |
A |
5: 137,465,370 (GRCm39) |
M462L |
possibly damaging |
Het |
Zfp40 |
A |
G |
17: 23,397,257 (GRCm39) |
V80A |
possibly damaging |
Het |
Zfp930 |
A |
T |
8: 69,681,337 (GRCm39) |
H344L |
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 |
R7330:Lonp2
|
UTSW |
8 |
87,358,022 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGACAATAGAATGTGTGGCATG -3'
(R):5'- ATTAACTTCCGGACAACTGAAAGTC -3'
Sequencing Primer
(F):5'- AGGATTTAGAATATGAGGTGGTCAG -3'
(R):5'- CCATAGCATGACTGACTTTAAAGGG -3'
|
Posted On |
2019-10-24 |