Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Lonp2'

177731

Institutional Source

Beutler Lab

Gene Symbol

Lonp2

Ensembl Gene

ENSMUSG00000047866

Gene Name

lon peptidase 2, peroxisomal

Synonyms

1300002A08Rik

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86624043-86723873 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 86673072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127938 (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

noncoding transcript
Transcript: ENSMUST00000082690

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

SMART Domains

Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,441 (GRCm38)		probably benign	Het
Aadacl2	C	T	3: 60,010,576 (GRCm38)	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223 (GRCm38)	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563 (GRCm38)	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517 (GRCm38)	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948 (GRCm38)	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995 (GRCm38)	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575 (GRCm38)	D172G	probably benign	Het
Bax	T	C	7: 45,465,247 (GRCm38)	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859 (GRCm38)	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266 (GRCm38)		probably benign	Het
Cand1	A	G	10: 119,213,566 (GRCm38)	L425P	probably damaging	Het
Caskin1	G	A	17: 24,505,478 (GRCm38)		probably null	Het
Cd248	C	T	19: 5,069,932 (GRCm38)	P603S	probably benign	Het
Cep95	G	T	11: 106,800,104 (GRCm38)	R143L	probably benign	Het
Clptm1l	G	T	13: 73,614,673 (GRCm38)		probably null	Het
Cntnap5a	T	C	1: 116,060,200 (GRCm38)	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990 (GRCm38)	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461 (GRCm38)	S370P	probably damaging	Het
Enah	G	T	1: 181,922,293 (GRCm38)	T327K	probably damaging	Het
Farp2	A	T	1: 93,579,860 (GRCm38)	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612 (GRCm38)	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176 (GRCm38)	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328 (GRCm38)	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038 (GRCm38)	S248*	probably null	Het
Glul	A	T	1: 153,905,538 (GRCm38)		probably benign	Het
Gm28042	A	G	2: 120,041,406 (GRCm38)	T946A	probably benign	Het
Golga3	T	A	5: 110,181,783 (GRCm38)	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967 (GRCm38)	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911 (GRCm38)	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785 (GRCm38)	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332 (GRCm38)	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Itga9	T	C	9: 118,607,117 (GRCm38)		probably null	Het
Itgb1	T	A	8: 128,705,458 (GRCm38)	C16S	probably damaging	Het
Itgb1	G	T	8: 128,705,459 (GRCm38)	C16F	possibly damaging	Het
Kat14	A	G	2: 144,394,100 (GRCm38)	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541 (GRCm38)		probably null	Het
Kif12	T	A	4: 63,166,500 (GRCm38)	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474 (GRCm38)	S44P	probably damaging	Het
Lrp1	C	T	10: 127,605,606 (GRCm38)	S216N	probably benign	Het
Lrrc19	T	C	4: 94,640,950 (GRCm38)	S32G	probably benign	Het
Mdm2	G	A	10: 117,690,529 (GRCm38)	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632 (GRCm38)	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647 (GRCm38)	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524 (GRCm38)	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176 (GRCm38)	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488 (GRCm38)	A119V	probably benign	Het
Mtmr11	A	G	3: 96,168,113 (GRCm38)	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977 (GRCm38)	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075 (GRCm38)	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865 (GRCm38)	I24T	probably benign	Het
Olfr1477	C	T	19: 13,502,757 (GRCm38)	T138M	probably benign	Het
Olfr675	A	G	7: 105,024,560 (GRCm38)	V140A	probably benign	Het
Olfr703	A	G	7: 106,845,196 (GRCm38)	Y195C	possibly damaging	Het
Olfr816	A	G	10: 129,911,681 (GRCm38)	V199A	probably benign	Het
Omp	G	T	7: 98,145,359 (GRCm38)	D20E	probably benign	Het
Otog	A	G	7: 46,283,908 (GRCm38)	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292 (GRCm38)	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986 (GRCm38)	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792 (GRCm38)	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529 (GRCm38)	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807 (GRCm38)	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381 (GRCm38)	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462 (GRCm38)	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447 (GRCm38)	V8I	probably benign	Het
Soga1	A	T	2: 157,027,637 (GRCm38)	M1026K	probably benign	Het
Spen	T	C	4: 141,488,024 (GRCm38)	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015 (GRCm38)		probably null	Het
Tars	A	G	15: 11,388,175 (GRCm38)	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767 (GRCm38)	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960 (GRCm38)	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706 (GRCm38)	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526 (GRCm38)	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680 (GRCm38)	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551 (GRCm38)	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390 (GRCm38)	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872 (GRCm38)	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961 (GRCm38)	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776 (GRCm38)	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520 (GRCm38)		probably benign	Het
Vmn2r81	C	A	10: 79,293,024 (GRCm38)	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230 (GRCm38)	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972 (GRCm38)	V239L	probably benign	Het
Wdr17	C	T	8: 54,703,907 (GRCm38)		probably benign	Het
Zfhx4	A	C	3: 5,241,729 (GRCm38)	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,171,745 (GRCm38)		probably null	Het

Other mutations in Lonp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Lonp2	APN	8	86,633,972 (GRCm38)	missense	probably damaging	1.00
IGL00990:Lonp2	APN	8	86,641,533 (GRCm38)	splice site	probably benign
IGL01654:Lonp2	APN	8	86,714,086 (GRCm38)	missense	probably damaging	1.00
IGL02021:Lonp2	APN	8	86,708,971 (GRCm38)	missense	probably benign	0.00
IGL02165:Lonp2	APN	8	86,709,026 (GRCm38)	missense	probably damaging	1.00
IGL02309:Lonp2	APN	8	86,634,863 (GRCm38)	missense	probably damaging	1.00
IGL02355:Lonp2	APN	8	86,624,246 (GRCm38)	missense	probably benign	0.17
IGL02362:Lonp2	APN	8	86,624,246 (GRCm38)	missense	probably benign	0.17
IGL02365:Lonp2	APN	8	86,716,365 (GRCm38)	missense	possibly damaging	0.69
IGL02374:Lonp2	APN	8	86,709,045 (GRCm38)	missense	probably damaging	0.97
IGL02440:Lonp2	APN	8	86,624,185 (GRCm38)	start codon destroyed	probably null	0.98
Furcht	UTSW	8	86,631,502 (GRCm38)	missense	probably benign	0.09
Horror	UTSW	8	86,624,248 (GRCm38)	missense	probably damaging	1.00
Shellshock	UTSW	8	86,709,013 (GRCm38)	missense	probably damaging	1.00
R0083:Lonp2	UTSW	8	86,716,355 (GRCm38)	missense	probably benign	0.13
R0108:Lonp2	UTSW	8	86,716,355 (GRCm38)	missense	probably benign	0.13
R0108:Lonp2	UTSW	8	86,716,355 (GRCm38)	missense	probably benign	0.13
R0129:Lonp2	UTSW	8	86,634,890 (GRCm38)	missense	probably damaging	0.99
R0302:Lonp2	UTSW	8	86,637,991 (GRCm38)	missense	possibly damaging	0.94
R0433:Lonp2	UTSW	8	86,633,954 (GRCm38)	missense	probably damaging	1.00
R1148:Lonp2	UTSW	8	86,636,540 (GRCm38)	missense	probably benign	0.00
R1148:Lonp2	UTSW	8	86,636,540 (GRCm38)	missense	probably benign	0.00
R1413:Lonp2	UTSW	8	86,641,584 (GRCm38)	missense	probably damaging	1.00
R1635:Lonp2	UTSW	8	86,713,450 (GRCm38)	missense	possibly damaging	0.78
R1654:Lonp2	UTSW	8	86,631,450 (GRCm38)	missense	probably damaging	0.99
R2033:Lonp2	UTSW	8	86,708,942 (GRCm38)	missense	possibly damaging	0.77
R2062:Lonp2	UTSW	8	86,665,775 (GRCm38)	missense	probably damaging	0.99
R2065:Lonp2	UTSW	8	86,665,775 (GRCm38)	missense	probably damaging	0.99
R2066:Lonp2	UTSW	8	86,665,775 (GRCm38)	missense	probably damaging	0.99
R2068:Lonp2	UTSW	8	86,665,775 (GRCm38)	missense	probably damaging	0.99
R4321:Lonp2	UTSW	8	86,665,728 (GRCm38)	missense	probably damaging	1.00
R4713:Lonp2	UTSW	8	86,713,315 (GRCm38)	missense	probably damaging	0.98
R4750:Lonp2	UTSW	8	86,631,502 (GRCm38)	missense	probably benign	0.09
R5790:Lonp2	UTSW	8	86,631,490 (GRCm38)	missense	probably benign	0.24
R5854:Lonp2	UTSW	8	86,673,071 (GRCm38)	critical splice donor site	probably null
R5884:Lonp2	UTSW	8	86,641,626 (GRCm38)	missense	probably damaging	1.00
R6025:Lonp2	UTSW	8	86,713,373 (GRCm38)	missense	probably damaging	1.00
R6236:Lonp2	UTSW	8	86,636,587 (GRCm38)	nonsense	probably null
R6481:Lonp2	UTSW	8	86,634,908 (GRCm38)	missense	possibly damaging	0.69
R6534:Lonp2	UTSW	8	86,716,458 (GRCm38)	missense	probably benign	0.00
R6805:Lonp2	UTSW	8	86,709,096 (GRCm38)	missense	probably benign
R6983:Lonp2	UTSW	8	86,624,248 (GRCm38)	missense	probably damaging	1.00
R7330:Lonp2	UTSW	8	86,631,394 (GRCm38)	missense	probably damaging	1.00
R7641:Lonp2	UTSW	8	86,665,758 (GRCm38)	missense	probably benign	0.02
R7674:Lonp2	UTSW	8	86,665,758 (GRCm38)	missense	probably benign	0.02
R7711:Lonp2	UTSW	8	86,714,008 (GRCm38)	missense	probably damaging	0.99
R7826:Lonp2	UTSW	8	86,709,013 (GRCm38)	missense	probably damaging	1.00
R7999:Lonp2	UTSW	8	86,634,909 (GRCm38)	missense	probably benign	0.02
R8057:Lonp2	UTSW	8	86,714,089 (GRCm38)	missense	probably damaging	1.00
R8193:Lonp2	UTSW	8	86,631,463 (GRCm38)	missense	probably damaging	1.00
R8716:Lonp2	UTSW	8	86,716,305 (GRCm38)	missense	probably benign	0.20
R8766:Lonp2	UTSW	8	86,636,570 (GRCm38)	missense	probably benign	0.00
R8813:Lonp2	UTSW	8	86,631,445 (GRCm38)	missense	probably damaging	1.00
R9049:Lonp2	UTSW	8	86,709,107 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTGTCTGTATTGCACAGCCAAAG -3'
(R):5'- AGTGTACCCACTGTAGCAATCTGGAG -3'

Sequencing Primer
(F):5'- GTTGTGGCTGAAAAGACACC -3'
(R):5'- CACTGTAGCAATCTGGAGAAAATAAC -3'

Posted On

2014-04-24