Mutagenetix > Incidental Mutation

Incidental Mutation 'R8766:Lonp2'

667887

Institutional Source

Beutler Lab

Gene Symbol

Lonp2

Ensembl Gene

ENSMUSG00000047866

Gene Name

lon peptidase 2, peroxisomal

Synonyms

1300002A08Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86624043-86723873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86636570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 272 (M272T)

Ref Sequence

ENSEMBL: ENSMUSP00000034141 (fasta)

Gene Model

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

AlphaFold

Q9DBN5

Predicted Effect

probably benign
Transcript: ENSMUST00000034141
AA Change: M272T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: M272T

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: 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: M272T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: M272T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,774,040	N70I	probably damaging	Het
Actr10	T	G	12: 70,954,656		probably null	Het
Amz1	A	G	5: 140,748,166	N166D	probably benign	Het
Asah2	A	G	19: 32,057,880	F15S	possibly damaging	Het
Axin2	A	G	11: 108,923,831	M182V	probably damaging	Het
Cacna1s	T	C	1: 136,075,143	L326P	probably damaging	Het
Ccdc130	C	T	8: 84,261,794	R68H	probably damaging	Het
Ccdc169	T	C	3: 55,150,824		probably null	Het
Cct8	A	T	16: 87,488,868	V234D	probably damaging	Het
Cdh19	T	C	1: 110,890,114	R633G	probably benign	Het
Clca1	A	T	3: 145,009,178		probably benign	Het
Crat	G	A	2: 30,407,063	P293S	probably benign	Het
Crybg3	G	A	16: 59,555,333	R139C	probably benign	Het
Ctbs	A	G	3: 146,459,833	N301S	possibly damaging	Het
Cyp4x1	T	C	4: 115,110,065	H438R	probably damaging	Het
Dglucy	C	A	12: 100,871,447	H616Q	probably benign	Het
Dync1i1	T	A	6: 5,767,142	L74Q	possibly damaging	Het
Epn1	T	C	7: 5,092,861	S167P	possibly damaging	Het
Fbxw28	T	C	9: 109,326,681	E341G	probably benign	Het
Gk2	T	A	5: 97,456,251	M243L	probably benign	Het
Grhl3	T	A	4: 135,573,413	E4D	probably benign	Het
Hsd17b13	T	C	5: 103,977,143	K58R	probably benign	Het
Ighd5-7	G	A	12: 113,464,528	Q9*	probably null	Het
Izumo1	G	A	7: 45,627,072	S353N	probably benign	Het
Klhl31	T	C	9: 77,650,163	S54P	possibly damaging	Het
Ltbp1	T	A	17: 75,296,255	C682*	probably null	Het
Magi2	A	G	5: 20,195,125	K52E	probably benign	Het
Nab2	C	T	10: 127,666,548		probably benign	Het
Ncapg2	T	A	12: 116,426,736	V435D	probably damaging	Het
Nid2	A	G	14: 19,752,272	D87G	probably benign	Het
Olfr461	T	C	6: 40,544,551	M143V	probably benign	Het
Olfr518	A	G	7: 108,881,246	M120T	probably benign	Het
Pamr1	T	C	2: 102,550,193	M1T	probably null	Het
Pard3b	T	C	1: 62,159,478	C242R	probably benign	Het
Pcif1	T	A	2: 164,885,426	V106E	probably benign	Het
Pitx2	T	A	3: 129,218,574	F218I	probably damaging	Het
Ppip5k1	G	T	2: 121,336,438	Y877*	probably null	Het
Prkch	A	G	12: 73,702,538	N354S	probably benign	Het
Psen2	T	A	1: 180,245,636	D40V	probably benign	Het
Rfx7	T	A	9: 72,616,739	S404T	possibly damaging	Het
Ryr2	T	A	13: 11,668,969	T3070S	probably damaging	Het
Slc24a4	A	G	12: 102,230,452	D263G	probably benign	Het
Tox	T	C	4: 6,823,047	E90G	probably damaging	Het
Unc13b	C	T	4: 43,174,722	S1850L	unknown	Het
Vmn1r5	T	A	6: 56,986,115	D258E	possibly damaging	Het
Vmn2r84	C	T	10: 130,386,372	V660M	probably damaging	Het
Zfp592	A	T	7: 81,024,605	H439L	probably benign	Het
Zfp775	A	T	6: 48,620,179	H329L	probably damaging	Het
Zswim5	T	C	4: 116,958,807	L364P	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
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
R8813:Lonp2	UTSW	8	86631445	missense	probably damaging	1.00
R9049:Lonp2	UTSW	8	86709107	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTGTTTATATCGCACCCACC -3'
(R):5'- AACTCAGCCTCTAGTCTGTGAC -3'

Sequencing Primer
(F):5'- GCCTTACCTTAGCCTAATACTGC -3'
(R):5'- AGCCTCTAGTCTGTGACTCAAGG -3'

Posted On

2021-03-08