Mutagenetix > Incidental Mutation

Incidental Mutation 'R2068:Lonp2'

226846

Institutional Source

Beutler Lab

Gene Symbol

Lonp2

Ensembl Gene

ENSMUSG00000047866

Gene Name

lon peptidase 2, peroxisomal

Synonyms

1300002A08Rik

MMRRC Submission

040073-MU

Accession Numbers

Essential gene?

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

Stock #

R2068 (G1)

Quality Score

225

Status

Not validated

Chromosome

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: 97.4%
20x: 95.5%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
Abcb5	A	T	12: 118,904,303 (GRCm39)	C162*	probably null	Het
Akr1c19	A	T	13: 4,288,391 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bsn	T	G	9: 107,987,883 (GRCm39)		probably benign	Het
Bsn	T	A	9: 108,003,749 (GRCm39)	M219L	possibly damaging	Het
Btnl9	T	C	11: 49,060,390 (GRCm39)	T453A	probably damaging	Het
C6	G	T	15: 4,820,552 (GRCm39)	C521F	probably damaging	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cdh20	A	T	1: 110,065,666 (GRCm39)	R647*	probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cmya5	T	A	13: 93,227,032 (GRCm39)	K2685N	possibly damaging	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cntn1	T	C	15: 92,215,943 (GRCm39)	V992A	possibly damaging	Het
Dapk1	G	A	13: 60,899,022 (GRCm39)	D831N	probably damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah6	A	G	6: 72,998,165 (GRCm39)	Y4034H	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Eps8	A	T	6: 137,499,172 (GRCm39)	W239R	probably benign	Het
Fance	T	C	17: 28,539,799 (GRCm39)	F83S	possibly damaging	Het
Fn1	A	G	1: 71,639,598 (GRCm39)	V1731A	probably damaging	Het
Gak	G	T	5: 108,718,091 (GRCm39)	T1244K	probably benign	Het
Gas8	T	A	8: 124,253,276 (GRCm39)	I208N	probably damaging	Het
Gm9830	A	T	9: 44,375,579 (GRCm39)		noncoding transcript	Het
Gm9837	T	A	11: 53,361,092 (GRCm39)		probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hdac3	C	A	18: 38,076,569 (GRCm39)	G257V	probably damaging	Het
Heg1	A	G	16: 33,547,960 (GRCm39)	T916A	probably benign	Het
Herc2	G	T	7: 55,782,245 (GRCm39)	G1311C	probably damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Itm2b	T	C	14: 73,600,575 (GRCm39)	K242E	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Klrg2	G	A	6: 38,613,928 (GRCm39)	T25I	probably benign	Het
Lcn5	G	A	2: 25,548,053 (GRCm39)	V21M	probably damaging	Het
Liat1	T	C	11: 75,891,077 (GRCm39)	S64P	possibly damaging	Het
Lrrn3	A	T	12: 41,502,995 (GRCm39)	S441T	probably damaging	Het
Mpdz	G	A	4: 81,254,067 (GRCm39)	R1W	probably null	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mpzl2	G	A	9: 44,955,169 (GRCm39)		probably null	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Notch3	A	G	17: 32,354,482 (GRCm39)	C1748R	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oasl2	A	C	5: 115,049,298 (GRCm39)	D466A	probably benign	Het
Opa3	T	C	7: 18,978,739 (GRCm39)	I68T	possibly 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
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or8g37	T	C	9: 39,731,846 (GRCm39)	F304L	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pdzrn3	T	C	6: 101,127,660 (GRCm39)	E1002G	probably damaging	Het
Pik3c2a	A	T	7: 115,972,126 (GRCm39)	L768*	probably null	Het
Plxna4	A	G	6: 32,494,551 (GRCm39)	S22P	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Pramel11	T	C	4: 143,623,482 (GRCm39)	M231V	probably damaging	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Pum1	A	G	4: 130,501,745 (GRCm39)	T845A	probably benign	Het
Rad21l	T	C	2: 151,509,927 (GRCm39)	H58R	probably damaging	Het
Rgma	A	C	7: 73,059,379 (GRCm39)	D161A	probably damaging	Het
Scai	T	C	2: 39,013,025 (GRCm39)	Y135C	probably damaging	Het
Scn2a	T	A	2: 65,582,417 (GRCm39)	H1588Q	probably benign	Het
Sdha	A	T	13: 74,472,087 (GRCm39)		probably null	Het
Slc12a3	A	G	8: 95,072,456 (GRCm39)	D658G	probably damaging	Het
Slc5a3	A	G	16: 91,874,128 (GRCm39)	S62G	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,910,627 (GRCm39)	I649V	probably damaging	Het
Thbs1	C	T	2: 117,954,018 (GRCm39)	Q1090*	probably null	Het
Tjp2	C	A	19: 24,099,687 (GRCm39)	R400L	probably benign	Het
Tle4	A	T	19: 14,427,113 (GRCm39)	Y769*	probably null	Het
Trmt5	A	T	12: 73,331,444 (GRCm39)		probably null	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubac2	T	A	14: 122,145,691 (GRCm39)	Y116*	probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Usp36	T	C	11: 118,165,844 (GRCm39)	T160A	possibly damaging	Het
Usp54	G	T	14: 20,627,273 (GRCm39)	P462T	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vps11	A	G	9: 44,269,613 (GRCm39)	S213P	probably damaging	Het
Zfp668	C	T	7: 127,465,837 (GRCm39)	G449D	probably benign	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
R2065: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
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'- ACGCTGACTCTACAGAAAAGATG -3'

Sequencing Primer
(F):5'- TTGACAATAGAATGTGTGGCATG -3'
(R):5'- CTACAGAAAAGATGGTTTATACCCC -3'

Posted On

2014-09-17