Incidental Mutation 'R2065:Lonp2'
| ID |
229092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp2
|
| Ensembl Gene |
ENSMUSG00000047866 |
| Gene Name |
lon peptidase 2, peroxisomal |
| Synonyms |
1300002A08Rik |
| MMRRC Submission |
040070-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R2065 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
87350672-87443264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87392403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 490
(T490A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034141]
[ENSMUST00000121673]
[ENSMUST00000122188]
[ENSMUST00000155433]
[ENSMUST00000163987]
|
| AlphaFold |
Q9DBN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034141
AA Change: T490A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: T490A
| 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 |
possibly damaging
Transcript: ENSMUST00000121673
AA Change: T70A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: T70A
| 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: T348A
|
| SMART Domains |
Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: T348A
| 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 |
noncoding transcript
Transcript: ENSMUST00000124911
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155433
AA Change: T490A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: T490A
| 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 |
possibly damaging
Transcript: ENSMUST00000163987
AA Change: T70A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: T70A
| 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 |
0.5537 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
A |
X: 66,964,308 (GRCm39) |
I184L |
probably benign |
Het |
| 9530002B09Rik |
T |
A |
4: 122,583,115 (GRCm39) |
|
probably benign |
Het |
| Adh6a |
T |
A |
3: 138,030,998 (GRCm39) |
D162E |
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,872,193 (GRCm39) |
|
probably null |
Het |
| AI182371 |
A |
G |
2: 34,976,441 (GRCm39) |
|
probably null |
Het |
| Amy2a1 |
T |
C |
3: 113,324,217 (GRCm39) |
I108V |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,098,351 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
A |
G |
7: 81,113,522 (GRCm39) |
S896P |
unknown |
Het |
| Ascc2 |
A |
T |
11: 4,631,496 (GRCm39) |
M646L |
probably benign |
Het |
| Atp11b |
T |
A |
3: 35,893,223 (GRCm39) |
Y859N |
probably damaging |
Het |
| Bag3 |
T |
A |
7: 128,147,498 (GRCm39) |
V371D |
probably damaging |
Het |
| Bhmt |
T |
C |
13: 93,754,120 (GRCm39) |
Y363C |
probably benign |
Het |
| Btbd6 |
T |
C |
12: 112,941,755 (GRCm39) |
Y356H |
probably damaging |
Het |
| C2cd2l |
C |
T |
9: 44,227,632 (GRCm39) |
R172Q |
probably benign |
Het |
| Ccnt1 |
A |
T |
15: 98,449,823 (GRCm39) |
H156Q |
probably benign |
Het |
| Clptm1l |
C |
T |
13: 73,755,842 (GRCm39) |
Q153* |
probably null |
Het |
| Cnep1r1 |
G |
T |
8: 88,845,445 (GRCm39) |
|
probably benign |
Het |
| Cnksr2 |
A |
C |
X: 156,728,302 (GRCm39) |
S224R |
possibly damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,553,537 (GRCm39) |
M206V |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
| Ece1 |
A |
T |
4: 137,685,393 (GRCm39) |
M628L |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
| Epha1 |
G |
T |
6: 42,342,987 (GRCm39) |
H187Q |
probably benign |
Het |
| Erich6b |
T |
C |
14: 75,896,351 (GRCm39) |
I79T |
probably benign |
Het |
| F7 |
T |
A |
8: 13,085,183 (GRCm39) |
V403D |
probably damaging |
Het |
| Fbln7 |
G |
T |
2: 128,719,386 (GRCm39) |
R61L |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,455,453 (GRCm39) |
W577* |
probably null |
Het |
| Fbxw28 |
T |
C |
9: 109,157,292 (GRCm39) |
K319E |
probably benign |
Het |
| Fgb |
C |
A |
3: 82,956,996 (GRCm39) |
D25Y |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,109,538 (GRCm39) |
E522G |
unknown |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,657,963 (GRCm39) |
T69A |
probably benign |
Het |
| Gm7361 |
A |
T |
5: 26,467,149 (GRCm39) |
D256V |
probably damaging |
Het |
| Hpse |
A |
G |
5: 100,846,797 (GRCm39) |
S211P |
probably damaging |
Het |
| Ifnb1 |
T |
A |
4: 88,440,996 (GRCm39) |
I6F |
possibly damaging |
Het |
| Il2rg |
A |
G |
X: 100,311,416 (GRCm39) |
L57P |
possibly damaging |
Het |
| Invs |
T |
A |
4: 48,396,287 (GRCm39) |
L320Q |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 90,057,953 (GRCm39) |
S249G |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,317,050 (GRCm39) |
M768I |
probably benign |
Het |
| Khdc1a |
T |
A |
1: 21,421,196 (GRCm39) |
M127K |
probably benign |
Het |
| Klhl42 |
T |
A |
6: 147,003,161 (GRCm39) |
W312R |
probably damaging |
Het |
| L3mbtl4 |
C |
A |
17: 68,732,687 (GRCm39) |
Q56K |
probably benign |
Het |
| Lce1k |
G |
A |
3: 92,714,164 (GRCm39) |
Q7* |
probably null |
Het |
| Mbd1 |
C |
A |
18: 74,409,955 (GRCm39) |
T373K |
probably damaging |
Het |
| Mpp4 |
G |
A |
1: 59,182,941 (GRCm39) |
P322L |
possibly damaging |
Het |
| Mrto4 |
T |
C |
4: 139,076,334 (GRCm39) |
K86E |
probably benign |
Het |
| Naf1 |
A |
G |
8: 67,340,432 (GRCm39) |
D414G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,616,158 (GRCm39) |
L2232Q |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,341,206 (GRCm39) |
F29L |
probably benign |
Het |
| Nup133 |
C |
A |
8: 124,641,314 (GRCm39) |
D869Y |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,396 (GRCm39) |
N58S |
probably damaging |
Het |
| Or2ag1 |
T |
A |
7: 106,313,373 (GRCm39) |
R172W |
probably benign |
Het |
| Or2d3c |
T |
G |
7: 106,526,162 (GRCm39) |
Y168S |
probably damaging |
Het |
| Or4k45 |
A |
G |
2: 111,395,057 (GRCm39) |
I244T |
probably damaging |
Het |
| Or5p63 |
T |
C |
7: 107,811,547 (GRCm39) |
Y63C |
probably damaging |
Het |
| Or5p73 |
T |
A |
7: 108,064,875 (GRCm39) |
C115S |
possibly damaging |
Het |
| Orc2 |
A |
G |
1: 58,508,854 (GRCm39) |
V431A |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,640,929 (GRCm39) |
F672S |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,778,617 (GRCm39) |
G767D |
probably benign |
Het |
| Plxnb3 |
T |
A |
X: 72,815,357 (GRCm39) |
Y1845* |
probably null |
Het |
| Prl7a2 |
T |
A |
13: 27,844,870 (GRCm39) |
Y172F |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,695 (GRCm39) |
E50G |
probably damaging |
Het |
| Prph |
A |
T |
15: 98,954,014 (GRCm39) |
D196V |
probably damaging |
Het |
| Rapgef5 |
C |
A |
12: 117,547,739 (GRCm39) |
C234* |
probably null |
Het |
| Sin3a |
T |
A |
9: 57,018,084 (GRCm39) |
D834E |
possibly damaging |
Het |
| Skint1 |
T |
A |
4: 111,882,730 (GRCm39) |
V258D |
probably benign |
Het |
| Slc22a16 |
A |
G |
10: 40,461,016 (GRCm39) |
I273V |
possibly damaging |
Het |
| Snx13 |
T |
C |
12: 35,188,065 (GRCm39) |
M781T |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 99,920,524 (GRCm39) |
I420V |
probably benign |
Het |
| Synj1 |
T |
C |
16: 90,788,537 (GRCm39) |
|
probably null |
Het |
| Tatdn2 |
A |
G |
6: 113,681,103 (GRCm39) |
K379E |
probably benign |
Het |
| Tcaf2 |
T |
A |
6: 42,604,981 (GRCm39) |
N601I |
probably benign |
Het |
| Thrap3 |
T |
C |
4: 126,069,189 (GRCm39) |
Y654C |
possibly damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
T |
C |
5: 127,861,505 (GRCm39) |
D872G |
probably benign |
Het |
| Troap |
T |
C |
15: 98,980,344 (GRCm39) |
L508P |
probably benign |
Het |
| Trpd52l3 |
T |
C |
19: 29,981,362 (GRCm39) |
V39A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,544,717 (GRCm39) |
N32795S |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,041,086 (GRCm39) |
D266G |
probably damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,240,100 (GRCm39) |
E95G |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,553 (GRCm39) |
H412L |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,406,999 (GRCm39) |
C1589R |
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 |
|
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 |
|
R9049:Lonp2
|
UTSW |
8 |
87,435,735 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTGCAGAGTTCATGTCTG -3'
(R):5'- CGCTGACTCTACAGAAAAGATGG -3'
Sequencing Primer
(F):5'- TTGACAATAGAATGTGTGGCATG -3'
(R):5'- CTACAGAAAAGATGGTTTATACCCC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation