Mutagenetix > Incidental Mutation

Incidental Mutation 'R6481:Lonp2'

517112

Institutional Source

Beutler Lab

Gene Symbol

Lonp2

Ensembl Gene

ENSMUSG00000047866

Gene Name

lon peptidase 2, peroxisomal

Synonyms

1300002A08Rik

MMRRC Submission

044613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R6481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87350672-87443264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87361536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 238 (D238Y)

Ref Sequence

ENSEMBL: ENSMUSP00000118737 (fasta)

Gene Model

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

AlphaFold

Q9DBN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034141
AA Change: D238Y

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: D238Y

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

noncoding transcript
Transcript: ENSMUST00000124911

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155433
AA Change: D238Y

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: D238Y

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

noncoding transcript
Transcript: ENSMUST00000155501

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (82/82)

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
4931428L18Rik	T	C	1: 31,261,588 (GRCm39)		probably benign	Het
Aadacl2fm3	T	C	3: 59,768,478 (GRCm39)	Y3H	probably benign	Het
Abca9	G	A	11: 110,056,788 (GRCm39)	Q11*	probably null	Het
Abcc9	A	T	6: 142,550,621 (GRCm39)	M1273K	probably damaging	Het
Abi2	A	G	1: 60,478,098 (GRCm39)		probably null	Het
Acsm5	A	G	7: 119,134,104 (GRCm39)	E295G	probably benign	Het
Anapc5	T	C	5: 122,938,607 (GRCm39)	D389G	probably benign	Het
Ano3	A	T	2: 110,625,372 (GRCm39)	D159E	probably benign	Het
Arhgap26	T	A	18: 39,283,110 (GRCm39)	M349K	probably damaging	Het
Arhgef39	A	G	4: 43,498,580 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,440,032 (GRCm39)	S867P	probably benign	Het
Atad3a	A	T	4: 155,838,098 (GRCm39)		probably null	Het
Cadm1	A	T	9: 47,699,407 (GRCm39)	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,790,839 (GRCm39)	I933T	possibly damaging	Het
Cdcp3	A	T	7: 130,858,530 (GRCm39)	D1066V	probably benign	Het
Celsr3	C	G	9: 108,714,283 (GRCm39)	N1937K	possibly damaging	Het
Cic	A	C	7: 24,987,706 (GRCm39)	T558P	possibly damaging	Het
Cntln	A	G	4: 84,985,747 (GRCm39)	M933V	probably benign	Het
Coch	T	C	12: 51,644,956 (GRCm39)	F170S	probably damaging	Het
Col1a2	A	G	6: 4,538,680 (GRCm39)	Y1200C	unknown	Het
Col26a1	T	C	5: 136,773,032 (GRCm39)	M383V	probably benign	Het
Col4a4	A	T	1: 82,431,499 (GRCm39)	M1595K	unknown	Het
Crh	T	C	3: 19,748,501 (GRCm39)	E47G	probably benign	Het
D930020B18Rik	T	C	10: 121,497,053 (GRCm39)		probably null	Het
Def6	G	A	17: 28,445,137 (GRCm39)	R482H	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpagt1	T	C	9: 44,242,487 (GRCm39)	L241P	probably damaging	Het
E2f7	A	G	10: 110,610,542 (GRCm39)	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,715,174 (GRCm39)	I53V	probably benign	Het
Fbxo4	A	G	15: 3,995,216 (GRCm39)	L376P	probably damaging	Het
Fgfr2	A	G	7: 129,787,008 (GRCm39)	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,864,388 (GRCm39)	P52Q	possibly damaging	Het
Fry	G	A	5: 150,309,479 (GRCm39)	R641H	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,651,546 (GRCm39)	K52R	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,053 (GRCm39)	D379G	probably benign	Het
Gys1	A	T	7: 45,092,393 (GRCm39)	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,193,594 (GRCm39)		probably benign	Het
Ifitm1	G	A	7: 140,549,519 (GRCm39)	V101I	probably benign	Het
Kalrn	T	A	16: 34,181,354 (GRCm39)	T95S	probably damaging	Het
Leng8	A	G	7: 4,148,412 (GRCm39)	Y728C	probably damaging	Het
Ltn1	A	C	16: 87,175,868 (GRCm39)	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,013,819 (GRCm39)	S411T	probably damaging	Het
Mrps33	C	A	6: 39,782,304 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,461,973 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,362,808 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Or10al6	T	G	17: 38,083,194 (GRCm39)	F217V	probably damaging	Het
Or13p8	A	G	4: 118,583,930 (GRCm39)	Y162C	probably damaging	Het
Or1j21	T	A	2: 36,683,789 (GRCm39)	D180E	possibly damaging	Het
Or4c106	A	T	2: 88,682,863 (GRCm39)	T190S	probably damaging	Het
Or55b10	A	T	7: 102,143,346 (GRCm39)	V212D	probably damaging	Het
Or5w17	T	C	2: 87,583,812 (GRCm39)	N175S	probably damaging	Het
Pag1	T	A	3: 9,764,396 (GRCm39)	E252D	possibly damaging	Het
Plcd3	T	C	11: 102,968,593 (GRCm39)	Y366C	probably damaging	Het
Psg17	A	C	7: 18,548,375 (GRCm39)	S465R	probably damaging	Het
Ptpn9	G	T	9: 56,930,324 (GRCm39)	V50L	probably damaging	Het
Rab17	T	G	1: 90,886,683 (GRCm39)	S190R	probably benign	Het
Samd11	A	G	4: 156,333,535 (GRCm39)		probably null	Het
Slc17a5	A	G	9: 78,445,553 (GRCm39)	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,790,899 (GRCm39)	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,696,347 (GRCm39)	Q896K	probably benign	Het
Slc9a5	A	T	8: 106,085,025 (GRCm39)	K509*	probably null	Het
Slf2	A	C	19: 44,961,603 (GRCm39)	M1041L	probably benign	Het
Smn1	A	G	13: 100,265,008 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,972,484 (GRCm39)		probably null	Het
Soat2	T	A	15: 102,070,490 (GRCm39)	L431Q	probably damaging	Het
Spam1	T	A	6: 24,796,929 (GRCm39)	N293K	probably benign	Het
Tatdn1	T	C	15: 58,795,760 (GRCm39)	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,640,015 (GRCm39)	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,100 (GRCm39)	N431K	possibly damaging	Het
Trim39	T	C	17: 36,579,554 (GRCm39)	T31A	probably benign	Het
Trmt9b	T	C	8: 36,965,637 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,451,764 (GRCm39)		probably null	Het
Ttll11	G	A	2: 35,792,766 (GRCm39)	T359M	probably damaging	Het
Ttn	T	G	2: 76,571,843 (GRCm39)	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,159,062 (GRCm39)	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,639,878 (GRCm39)	P265S	probably benign	Het
Wdr90	C	T	17: 26,064,885 (GRCm39)	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,502,481 (GRCm39)	Y351C	probably damaging	Het
Xpo6	A	C	7: 125,712,057 (GRCm39)	N3K	probably damaging	Het
Zfp445	A	G	9: 122,686,631 (GRCm39)	S165P	probably benign	Het
Zfp953	A	T	13: 67,496,001 (GRCm39)	Y13*	probably null	Het
Zftraf1	T	C	15: 76,542,908 (GRCm39)		probably null	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
R2068: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
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'- TGCTTCTAGTTAGAGCATGTCC -3'
(R):5'- TCAAAAGCATGTGAGATCGTCTC -3'

Sequencing Primer
(F):5'- TAGAGCATGTCCTTCTGGAAAG -3'
(R):5'- TCCTACACTCAAGGGATTAGCTTAC -3'

Posted On

2018-05-21