Incidental Mutation 'R9049:Lonp2'
ID |
720339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lonp2
|
Ensembl Gene |
ENSMUSG00000047866 |
Gene Name |
lon peptidase 2, peroxisomal |
Synonyms |
1300002A08Rik |
MMRRC Submission |
068875-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
R9049 (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 87435735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 657
(V657A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000121673]
[ENSMUST00000122188]
[ENSMUST00000155433]
[ENSMUST00000163987]
|
AlphaFold |
Q9DBN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034141
|
SMART Domains |
Protein: ENSMUSP00000034141 Gene: ENSMUSG00000047866
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
|
SMART Domains |
Protein: ENSMUSP00000113381 Gene: ENSMUSG00000047866
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 |
probably benign
Transcript: ENSMUST00000122188
|
SMART Domains |
Protein: ENSMUSP00000113834 Gene: ENSMUSG00000047866
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: V657A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118737 Gene: ENSMUSG00000047866 AA Change: V657A
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
|
SMART Domains |
Protein: ENSMUSP00000127938 Gene: ENSMUSG00000047866
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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (64/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
A |
G |
1: 120,115,900 (GRCm39) |
I118V |
probably null |
Het |
Abcc9 |
A |
G |
6: 142,628,658 (GRCm39) |
L362P |
probably damaging |
Het |
Adam7 |
C |
A |
14: 68,762,674 (GRCm39) |
V184F |
probably benign |
Het |
Adgre4 |
T |
C |
17: 56,092,094 (GRCm39) |
I118T |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,114,597 (GRCm39) |
L3292P |
|
Het |
Akr1b10 |
A |
G |
6: 34,373,561 (GRCm39) |
E308G |
possibly damaging |
Het |
Aopep |
A |
G |
13: 63,208,852 (GRCm39) |
Y323C |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,914,671 (GRCm39) |
V1767A |
probably benign |
Het |
Bpifb3 |
C |
A |
2: 153,767,810 (GRCm39) |
N294K |
probably benign |
Het |
Bpifb5 |
A |
G |
2: 154,070,096 (GRCm39) |
N182S |
probably benign |
Het |
C9orf72 |
A |
G |
4: 35,192,964 (GRCm39) |
I455T |
unknown |
Het |
Camkmt |
A |
G |
17: 85,709,912 (GRCm39) |
I205M |
possibly damaging |
Het |
Ccdc88b |
C |
T |
19: 6,826,442 (GRCm39) |
R1091Q |
probably benign |
Het |
Cfap58 |
A |
T |
19: 48,015,157 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
T |
A |
3: 144,733,143 (GRCm39) |
I122L |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,707,066 (GRCm39) |
S2623C |
unknown |
Het |
Cpne5 |
A |
G |
17: 29,379,332 (GRCm39) |
S484P |
probably damaging |
Het |
Cyp4f39 |
T |
A |
17: 32,705,965 (GRCm39) |
L352Q |
probably damaging |
Het |
Dcun1d1 |
T |
C |
3: 35,951,998 (GRCm39) |
N183D |
probably benign |
Het |
Dgkg |
A |
G |
16: 22,419,338 (GRCm39) |
V54A |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,443,275 (GRCm39) |
D561E |
probably benign |
Het |
Dnah6 |
A |
C |
6: 73,119,275 (GRCm39) |
L1536R |
probably damaging |
Het |
Gm21834 |
G |
A |
17: 58,048,826 (GRCm39) |
T130I |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,451,955 (GRCm39) |
V434E |
possibly damaging |
Het |
Htr3a |
C |
A |
9: 48,811,087 (GRCm39) |
V459L |
probably damaging |
Het |
Mdfi |
C |
A |
17: 48,135,479 (GRCm39) |
V84L |
probably damaging |
Het |
Mdm1 |
C |
T |
10: 117,982,605 (GRCm39) |
T80M |
probably benign |
Het |
Muc5ac |
A |
C |
7: 141,362,712 (GRCm39) |
I2008L |
unknown |
Het |
Nomo1 |
A |
G |
7: 45,715,597 (GRCm39) |
D681G |
probably benign |
Het |
Or10g9 |
G |
T |
9: 39,911,919 (GRCm39) |
N201K |
possibly damaging |
Het |
Or14j6 |
G |
A |
17: 38,214,764 (GRCm39) |
W109* |
probably null |
Het |
Or1af1 |
C |
G |
2: 37,109,959 (GRCm39) |
H153D |
probably damaging |
Het |
Or1p1c |
A |
G |
11: 74,161,115 (GRCm39) |
K300R |
possibly damaging |
Het |
Or5h25 |
T |
G |
16: 58,930,763 (GRCm39) |
D70A |
probably damaging |
Het |
Or5m5 |
A |
G |
2: 85,814,235 (GRCm39) |
E17G |
possibly damaging |
Het |
Or7e169 |
T |
C |
9: 19,757,045 (GRCm39) |
Y290C |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
Pipox |
A |
G |
11: 77,772,380 (GRCm39) |
I330T |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,819,890 (GRCm39) |
T676S |
unknown |
Het |
Pld3 |
C |
T |
7: 27,235,293 (GRCm39) |
V312M |
possibly damaging |
Het |
Pnisr |
T |
A |
4: 21,854,391 (GRCm39) |
W12R |
unknown |
Het |
Polr3e |
A |
G |
7: 120,538,462 (GRCm39) |
K410R |
probably benign |
Het |
Ppif |
G |
T |
14: 25,694,836 (GRCm39) |
V61L |
possibly damaging |
Het |
Pramel5 |
T |
C |
4: 144,000,486 (GRCm39) |
N30S |
probably benign |
Het |
Prex2 |
T |
G |
1: 11,256,130 (GRCm39) |
L1167R |
probably damaging |
Het |
Prkacb |
A |
T |
3: 146,461,518 (GRCm39) |
|
probably benign |
Het |
Prl3a1 |
T |
A |
13: 27,460,167 (GRCm39) |
L217H |
probably damaging |
Het |
Prop1 |
G |
C |
11: 50,842,948 (GRCm39) |
Q80E |
probably damaging |
Het |
Psma1 |
T |
C |
7: 113,865,764 (GRCm39) |
I214V |
probably benign |
Het |
Ptgfr |
T |
A |
3: 151,541,404 (GRCm39) |
I35F |
probably benign |
Het |
Rcvrn |
A |
T |
11: 67,586,568 (GRCm39) |
Y109F |
probably benign |
Het |
Repin1 |
A |
G |
6: 48,574,646 (GRCm39) |
D525G |
possibly damaging |
Het |
Slc12a2 |
A |
T |
18: 58,054,863 (GRCm39) |
R835* |
probably null |
Het |
Sqle |
T |
C |
15: 59,189,711 (GRCm39) |
F118L |
probably benign |
Het |
Stard9 |
A |
T |
2: 120,510,418 (GRCm39) |
Y333F |
probably benign |
Het |
Tbc1d16 |
G |
A |
11: 119,100,090 (GRCm39) |
R95C |
probably damaging |
Het |
Tln1 |
C |
A |
4: 43,549,786 (GRCm39) |
E542* |
probably null |
Het |
Tmem161b |
G |
T |
13: 84,442,754 (GRCm39) |
A407S |
probably benign |
Het |
Tnc |
G |
T |
4: 63,918,247 (GRCm39) |
D1221E |
possibly damaging |
Het |
Tnks |
T |
C |
8: 35,308,932 (GRCm39) |
K1109R |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 43,992,502 (GRCm39) |
V194A |
possibly damaging |
Het |
Ust |
G |
A |
10: 8,183,218 (GRCm39) |
Q162* |
probably null |
Het |
Utp15 |
T |
C |
13: 98,395,778 (GRCm39) |
Y68C |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,826,224 (GRCm39) |
H3193Q |
probably damaging |
Het |
Vmn2r55 |
T |
C |
7: 12,418,908 (GRCm39) |
Y4C |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAACCAACAGCTCTCTTGG -3'
(R):5'- CTCATGAAGTGGAGGGATGACTC -3'
Sequencing Primer
(F):5'- CTCTTAGGTTGCAAAGAACATGTGC -3'
(R):5'- ACTCAGGGTCAAGCCAGCATG -3'
|
Posted On |
2022-07-20 |