Mutagenetix > Incidental Mutation

Incidental Mutation 'R2033:Lonp2'

221496

Institutional Source

Beutler Lab

Gene Symbol

Lonp2

Ensembl Gene

ENSMUSG00000047866

Gene Name

lon peptidase 2, peroxisomal

Synonyms

1300002A08Rik

MMRRC Submission

040040-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R2033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86624043-86723873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86708942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 602 (E602G)

Ref Sequence

ENSEMBL: ENSMUSP00000118737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034141] [ENSMUST00000121673] [ENSMUST00000122188] [ENSMUST00000155433] [ENSMUST00000163987]

AlphaFold

Q9DBN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034141
AA Change: E602G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: E602G

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: E182G

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: E182G

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: E460G

SMART Domains

Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: E460G

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

possibly damaging
Transcript: ENSMUST00000155433
AA Change: E602G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: E602G

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: E182G

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: E182G

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

0.1045

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,456,383	T172A	probably benign	Het
Atp6v1c1	T	C	15: 38,673,966		probably null	Het
Bpifc	G	A	10: 86,000,632	T3I	possibly damaging	Het
Car12	A	G	9: 66,717,558		probably null	Het
Ccrl2	A	G	9: 111,055,870	F187L	possibly damaging	Het
Cep250	G	A	2: 155,970,892	R544H	probably damaging	Het
Col4a3	T	G	1: 82,718,011		probably benign	Het
Cyb5r2	T	C	7: 107,756,907		probably null	Het
Elfn2	A	G	15: 78,671,896	V817A	probably damaging	Het
Eln	C	T	5: 134,710,106		probably null	Het
Eml5	T	C	12: 98,791,386	E1896G	possibly damaging	Het
G530012D18Rik	CACAGA	CA	1: 85,577,154		probably null	Het
Galnt11	C	T	5: 25,247,538	T16I	probably damaging	Het
Gars	C	T	6: 55,077,723	H672Y	probably benign	Het
Gpr155	T	A	2: 73,348,182	H726L	probably benign	Het
Inpp1	T	A	1: 52,790,173	N229I	possibly damaging	Het
Isg20	A	C	7: 78,916,533	I77L	probably damaging	Het
Kit	G	C	5: 75,637,317	D422H	possibly damaging	Het
Mink1	T	C	11: 70,612,508	V1143A	probably damaging	Het
Myh6	A	C	14: 54,963,645	L120R	probably benign	Het
Myo18a	T	A	11: 77,843,099		probably null	Het
Nphs2	T	C	1: 156,323,738	V249A	probably damaging	Het
Npsr1	A	G	9: 24,313,352	K342E	probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nudt18	G	T	14: 70,579,616	G162V	possibly damaging	Het
Odam	A	G	5: 87,892,419	D248G	probably benign	Het
Olfr1224-ps1	A	G	2: 89,157,154	V7A	probably damaging	Het
Olfr147	G	T	9: 38,403,373	M166I	probably damaging	Het
Olfr390	T	C	11: 73,787,438	S167P	probably benign	Het
Olfr557	A	G	7: 102,699,162	E308G	probably benign	Het
Olfr572	T	C	7: 102,928,408	V260A	probably benign	Het
Pde4b	G	T	4: 102,605,295	D723Y	probably benign	Het
Pdzrn3	T	C	6: 101,150,954	E917G	probably damaging	Het
Ppip5k1	C	T	2: 121,337,627	R715H	probably damaging	Het
Prkdc	T	A	16: 15,687,352		probably benign	Het
Ptp4a3	A	G	15: 73,753,769	Y21C	probably damaging	Het
Ptprk	C	A	10: 28,592,767		probably benign	Het
Rfesd	C	A	13: 76,002,872		probably null	Het
Rtel1	A	T	2: 181,351,863	K592*	probably null	Het
Siah1a	T	A	8: 86,725,270	K195N	probably damaging	Het
Slc5a5	G	T	8: 70,888,587	D369E	probably damaging	Het
Slc6a6	A	T	6: 91,724,910	I100F	probably benign	Het
Smtn	T	C	11: 3,517,781	I913V	probably benign	Het
Stk17b	A	G	1: 53,761,076	S248P	probably damaging	Het
Sun1	C	T	5: 139,225,438	H149Y	probably damaging	Het
Taar5	T	C	10: 23,971,094	I130T	possibly damaging	Het
Tmem132b	G	T	5: 125,749,289	V448F	probably damaging	Het
Tmem94	C	A	11: 115,794,328	N888K	possibly damaging	Het
Trpc1	T	C	9: 95,706,843	N742S	probably damaging	Het
Ttbk2	T	C	2: 120,806,849	T112A	probably damaging	Het
Tubb2a	A	T	13: 34,075,456	L117Q	probably damaging	Het
Vmn1r60	T	A	7: 5,544,820	M94L	probably benign	Het
Vmn2r83	A	G	10: 79,491,819	T754A	probably benign	Het

Other mutations in Lonp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Lonp2	APN	8	86633972	missense	probably damaging	1.00
IGL00990:Lonp2	APN	8	86641533	splice site	probably benign
IGL01654:Lonp2	APN	8	86714086	missense	probably damaging	1.00
IGL02021:Lonp2	APN	8	86708971	missense	probably benign	0.00
IGL02165:Lonp2	APN	8	86709026	missense	probably damaging	1.00
IGL02309:Lonp2	APN	8	86634863	missense	probably damaging	1.00
IGL02355:Lonp2	APN	8	86624246	missense	probably benign	0.17
IGL02362:Lonp2	APN	8	86624246	missense	probably benign	0.17
IGL02365:Lonp2	APN	8	86716365	missense	possibly damaging	0.69
IGL02374:Lonp2	APN	8	86709045	missense	probably damaging	0.97
IGL02440:Lonp2	APN	8	86624185	start codon destroyed	probably null	0.98
Furcht	UTSW	8	86631502	missense	probably benign	0.09
Horror	UTSW	8	86624248	missense	probably damaging	1.00
Shellshock	UTSW	8	86709013	missense	probably damaging	1.00
R0083:Lonp2	UTSW	8	86716355	missense	probably benign	0.13
R0108:Lonp2	UTSW	8	86716355	missense	probably benign	0.13
R0108:Lonp2	UTSW	8	86716355	missense	probably benign	0.13
R0129:Lonp2	UTSW	8	86634890	missense	probably damaging	0.99
R0302:Lonp2	UTSW	8	86637991	missense	possibly damaging	0.94
R0433:Lonp2	UTSW	8	86633954	missense	probably damaging	1.00
R1148:Lonp2	UTSW	8	86636540	missense	probably benign	0.00
R1148:Lonp2	UTSW	8	86636540	missense	probably benign	0.00
R1413:Lonp2	UTSW	8	86641584	missense	probably damaging	1.00
R1589:Lonp2	UTSW	8	86673072	splice site	probably benign
R1635:Lonp2	UTSW	8	86713450	missense	possibly damaging	0.78
R1654:Lonp2	UTSW	8	86631450	missense	probably damaging	0.99
R2062:Lonp2	UTSW	8	86665775	missense	probably damaging	0.99
R2065:Lonp2	UTSW	8	86665775	missense	probably damaging	0.99
R2066:Lonp2	UTSW	8	86665775	missense	probably damaging	0.99
R2068:Lonp2	UTSW	8	86665775	missense	probably damaging	0.99
R4321:Lonp2	UTSW	8	86665728	missense	probably damaging	1.00
R4713:Lonp2	UTSW	8	86713315	missense	probably damaging	0.98
R4750:Lonp2	UTSW	8	86631502	missense	probably benign	0.09
R5790:Lonp2	UTSW	8	86631490	missense	probably benign	0.24
R5854:Lonp2	UTSW	8	86673071	critical splice donor site	probably null
R5884:Lonp2	UTSW	8	86641626	missense	probably damaging	1.00
R6025:Lonp2	UTSW	8	86713373	missense	probably damaging	1.00
R6236:Lonp2	UTSW	8	86636587	nonsense	probably null
R6481:Lonp2	UTSW	8	86634908	missense	possibly damaging	0.69
R6534:Lonp2	UTSW	8	86716458	missense	probably benign	0.00
R6805:Lonp2	UTSW	8	86709096	missense	probably benign
R6983:Lonp2	UTSW	8	86624248	missense	probably damaging	1.00
R7330:Lonp2	UTSW	8	86631394	missense	probably damaging	1.00
R7641:Lonp2	UTSW	8	86665758	missense	probably benign	0.02
R7674:Lonp2	UTSW	8	86665758	missense	probably benign	0.02
R7711:Lonp2	UTSW	8	86714008	missense	probably damaging	0.99
R7826:Lonp2	UTSW	8	86709013	missense	probably damaging	1.00
R7999:Lonp2	UTSW	8	86634909	missense	probably benign	0.02
R8057:Lonp2	UTSW	8	86714089	missense	probably damaging	1.00
R8193:Lonp2	UTSW	8	86631463	missense	probably damaging	1.00
R8716:Lonp2	UTSW	8	86716305	missense	probably benign	0.20
R8766:Lonp2	UTSW	8	86636570	missense	probably benign	0.00
R8813:Lonp2	UTSW	8	86631445	missense	probably damaging	1.00
R9049:Lonp2	UTSW	8	86709107	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGGCGGGGTCATTTACTTA -3'
(R):5'- TCAAGCAAGCACCAGTGTAA -3'

Sequencing Primer
(F):5'- GGCAAATACTCCCTAAGGGCTTTG -3'
(R):5'- CAAGCACCAGTGTAAACATAGATATG -3'

Posted On

2014-08-25