Mutagenetix > Incidental Mutation

Incidental Mutation 'R2062:Lonp2'

228768

Institutional Source

Beutler Lab

Gene Symbol

Lonp2

Ensembl Gene

ENSMUSG00000047866

Gene Name

lon peptidase 2, peroxisomal

Synonyms

1300002A08Rik

MMRRC Submission

040067-MU

Accession Numbers

Essential gene?

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

Stock #

R2062 (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 86665775 bp (GRCm38)

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: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
A2ml1	A	T	6: 128,552,308	M957K	probably benign	Het
Adam7	C	A	14: 68,505,161	V668F	probably benign	Het
Adcy7	T	G	8: 88,312,274	L306R	probably damaging	Het
Akt3	A	G	1: 177,102,985	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,316,002	R620W	probably damaging	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Ano7	T	C	1: 93,390,313	V249A	probably benign	Het
Aox1	T	C	1: 58,059,192		probably null	Het
Asah2	A	T	19: 32,024,874	V290E	probably damaging	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Atxn2l	T	A	7: 126,495,866	K421N	probably damaging	Het
Cars2	T	C	8: 11,547,747	I110V	probably damaging	Het
Ccdc74a	A	G	16: 17,650,026	N249S	probably benign	Het
Cenpe	T	C	3: 135,222,321		probably benign	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,118,817		probably benign	Het
Cyp2d37-ps	C	T	15: 82,690,088		noncoding transcript	Het
Cyp3a25	A	G	5: 145,986,969		probably benign	Het
Dis3l	G	T	9: 64,339,573	Q67K	probably benign	Het
Dnah1	A	G	14: 31,271,129	V2936A	probably damaging	Het
Dnah5	C	T	15: 28,366,270	R2710C	probably damaging	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Dvl3	G	A	16: 20,526,351	S361N	probably benign	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Eif2ak3	T	C	6: 70,904,197	V1085A	probably benign	Het
Eif3b	T	C	5: 140,426,453	Y226H	probably damaging	Het
Endov	T	C	11: 119,499,582	F12S	probably damaging	Het
Ercc1	A	G	7: 19,354,370	*37W	probably null	Het
Evi2a	G	A	11: 79,527,767	Q6*	probably null	Het
Faah	C	T	4: 115,998,573	V552M	probably damaging	Het
Fat1	T	A	8: 45,024,332	N2138K	probably damaging	Het
Fat1	T	A	8: 45,026,704	V2929E	probably damaging	Het
Gm2959	A	G	14: 42,413,701		noncoding transcript	Het
Gm6327	A	T	16: 12,761,115		noncoding transcript	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Gtf2f2	A	G	14: 75,917,696	S142P	possibly damaging	Het
Hspg2	A	T	4: 137,559,367	T3666S	possibly damaging	Het
Htt	C	T	5: 34,825,982	T975I	probably benign	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Iqgap1	G	A	7: 80,723,979	Q1421*	probably null	Het
Itga3	T	A	11: 95,054,076	Q802L	possibly damaging	Het
Lztr1	T	C	16: 17,509,670	V79A	probably damaging	Het
Mast4	C	T	13: 102,759,093	E736K	probably benign	Het
Mpp4	G	A	1: 59,143,782	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Myof	A	G	19: 37,915,746	V2A	possibly damaging	Het
Naf1	A	G	8: 66,887,780	D414G	probably damaging	Het
Nav3	G	A	10: 109,720,021	T1683M	probably damaging	Het
Nbea	A	G	3: 56,086,157		probably benign	Het
Nebl	A	T	2: 17,397,121	M427K	probably benign	Het
Ngdn	T	C	14: 55,022,107	V205A	possibly damaging	Het
Nup133	C	A	8: 123,914,575	D869Y	probably damaging	Het
Oas1g	T	C	5: 120,885,883	E121G	probably damaging	Het
Olfr1034	A	G	2: 86,046,955	T158A	probably damaging	Het
Olfr1404	T	C	1: 173,215,710	F20L	probably benign	Het
Olfr322	G	T	11: 58,665,982	C141F	probably damaging	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr775	T	A	10: 129,251,132	Y199*	probably null	Het
Park7	T	C	4: 150,905,275	N76S	probably benign	Het
Pcdh8	A	T	14: 79,768,211	S912R	probably damaging	Het
Pkhd1	A	G	1: 20,201,335	I2998T	probably damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Ppard	A	G	17: 28,299,689	H388R	probably damaging	Het
Psma1	A	G	7: 114,269,766	S142P	possibly damaging	Het
Pth2r	T	C	1: 65,343,562	I158T	probably damaging	Het
Rbl2	C	A	8: 91,106,739	P714Q	probably damaging	Het
Rexo2	A	T	9: 48,474,513	S104T	possibly damaging	Het
Sema5a	T	C	15: 32,609,217		probably benign	Het
Sun2	A	G	15: 79,738,651	L109P	probably damaging	Het
Tdg	A	G	10: 82,641,534	T116A	probably benign	Het
Terb1	A	T	8: 104,468,748	M587K	possibly damaging	Het
Tex43	C	T	18: 56,588,463	Q25*	probably null	Het
Tmcc1	C	T	6: 116,043,058	V118M	probably benign	Het
Tnfsf11	T	A	14: 78,278,922	N202I	probably damaging	Het
Togaram2	T	C	17: 71,716,365	S759P	probably benign	Het
Ttc7b	G	A	12: 100,325,689	A208V	probably damaging	Het
Tti2	T	C	8: 31,154,310		probably benign	Het
Wnk1	T	C	6: 119,928,157		probably null	Het
Zfyve26	T	C	12: 79,284,032		probably null	Het
Zfyve28	T	C	5: 34,234,337	M157V	probably null	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably damaging	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
R2033:Lonp2	UTSW	8	86708942	missense	possibly damaging	0.77
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'- TGACAATAGAATGTGTGGCATG -3'
(R):5'- TTTGTTCAACGCTGACTCTACAG -3'

Sequencing Primer
(F):5'- TCAGCTAACTATTGAACAGAAATGTC -3'
(R):5'- TGTTCAACGCTGACTCTACAGAAAAG -3'

Posted On

2014-09-17