Mutagenetix > Incidental Mutation

Incidental Mutation 'R7286:Pex5'

565994

Institutional Source

Beutler Lab

Gene Symbol

Pex5

Ensembl Gene

ENSMUSG00000005069

Gene Name

peroxisomal biogenesis factor 5

Synonyms

ESTM1, Pxr1, peroxisome biogenesis factor 5, PTS1R

MMRRC Submission

045394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124373775-124392026 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 124375022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 609 (L609*)

Ref Sequence

ENSEMBL: ENSMUSP00000049132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035861] [ENSMUST00000080557] [ENSMUST00000112530] [ENSMUST00000112531] [ENSMUST00000112532]

AlphaFold

O09012

Predicted Effect

probably null
Transcript: ENSMUST00000035861
AA Change: L609*

SMART Domains

Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: L609*

Domain	Start	End	E-Value	Type
low complexity region	231	247	N/A	INTRINSIC
TPR	371	404	2.66e0	SMART
low complexity region	443	454	N/A	INTRINSIC
TPR	488	521	1.76e-5	SMART
TPR	522	555	1.49e-3	SMART
TPR	556	589	3.87e-2	SMART
low complexity region	622	633	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000080557
AA Change: L572*

SMART Domains

Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: L572*

Domain	Start	End	E-Value	Type
TPR	334	367	2.66e0	SMART
low complexity region	406	417	N/A	INTRINSIC
TPR	451	484	1.76e-5	SMART
TPR	485	518	1.49e-3	SMART
TPR	519	552	3.87e-2	SMART
low complexity region	585	596	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112530
AA Change: L602*

SMART Domains

Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: L602*

Domain	Start	End	E-Value	Type
low complexity region	224	240	N/A	INTRINSIC
TPR	364	397	2.66e0	SMART
low complexity region	436	447	N/A	INTRINSIC
TPR	481	514	1.76e-5	SMART
TPR	515	548	1.49e-3	SMART
TPR	549	582	3.87e-2	SMART
low complexity region	615	626	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112531
AA Change: L572*

SMART Domains

Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: L572*

Domain	Start	End	E-Value	Type
TPR	334	367	2.66e0	SMART
low complexity region	406	417	N/A	INTRINSIC
TPR	451	484	1.76e-5	SMART
TPR	485	518	1.49e-3	SMART
TPR	519	552	3.87e-2	SMART
low complexity region	585	596	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112532
AA Change: L609*

SMART Domains

Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: L609*

Domain	Start	End	E-Value	Type
low complexity region	231	247	N/A	INTRINSIC
TPR	371	404	2.66e0	SMART
low complexity region	443	454	N/A	INTRINSIC
TPR	488	521	1.76e-5	SMART
TPR	522	555	1.49e-3	SMART
TPR	556	589	3.87e-2	SMART
low complexity region	622	633	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,334,317 (GRCm39)	M187L	possibly damaging	Het
9930012K11Rik	T	C	14: 70,394,686 (GRCm39)	E156G	possibly damaging	Het
Acad9	C	T	3: 36,130,139 (GRCm39)	A194V	probably damaging	Het
Agps	T	A	2: 75,683,128 (GRCm39)	V151E	probably benign	Het
Ak9	A	T	10: 41,283,367 (GRCm39)	I1273L		Het
Akr1c19	T	A	13: 4,296,818 (GRCm39)	L288Q	probably damaging	Het
Carmil1	T	G	13: 24,197,377 (GRCm39)	D1353A	probably damaging	Het
Ccz1	T	A	5: 143,949,897 (GRCm39)	I43F	probably damaging	Het
Cep70	G	A	9: 99,157,638 (GRCm39)	C179Y	probably damaging	Het
Comt	A	T	16: 18,229,440 (GRCm39)	L196H	probably damaging	Het
Cspg5	A	T	9: 110,076,023 (GRCm39)	D253V	probably damaging	Het
Dars2	A	G	1: 160,874,378 (GRCm39)	V437A	possibly damaging	Het
Dcaf5	A	G	12: 80,395,164 (GRCm39)	I335T	probably damaging	Het
Ddn	T	C	15: 98,703,906 (GRCm39)	K462R	possibly damaging	Het
Dscaml1	T	C	9: 45,654,044 (GRCm39)		probably null	Het
Eef1ece2	T	C	16: 20,451,341 (GRCm39)	S325P	probably benign	Het
Ethe1	A	G	7: 24,307,377 (GRCm39)	Y197C	probably damaging	Het
Evc	A	T	5: 37,479,527 (GRCm39)	L269*	probably null	Het
Fam161a	T	C	11: 22,970,001 (GRCm39)	S60P	possibly damaging	Het
Fam20b	A	G	1: 156,509,012 (GRCm39)	V400A	probably benign	Het
Fam53b	T	A	7: 132,361,390 (GRCm39)	S213C	possibly damaging	Het
Flot2	A	G	11: 77,945,612 (GRCm39)	I45V	probably benign	Het
Gemin4	A	C	11: 76,103,579 (GRCm39)	L394R	probably damaging	Het
Glis2	T	G	16: 4,429,182 (GRCm39)	S128R	possibly damaging	Het
Gm3696	A	G	14: 18,435,009 (GRCm39)	Y92H	probably damaging	Het
Gpbp1l1	T	C	4: 116,447,442 (GRCm39)	V374A	probably benign	Het
Grm1	T	C	10: 10,565,440 (GRCm39)	N956S	probably benign	Het
Hbb-bh1	T	C	7: 103,492,238 (GRCm39)	E27G	probably damaging	Het
Hmcn1	A	T	1: 150,458,088 (GRCm39)	C5233S	probably damaging	Het
Hmgcr	C	T	13: 96,803,105 (GRCm39)	C30Y	probably damaging	Het
Hoxb6	A	G	11: 96,183,651 (GRCm39)		probably benign	Het
Igf2	T	C	7: 142,209,555 (GRCm39)	Q35R	possibly damaging	Het
Ighv1-4	C	T	12: 114,450,941 (GRCm39)	V56I	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lmtk2	C	T	5: 144,111,178 (GRCm39)	Q633*	probably null	Het
Mesd	T	C	7: 83,544,957 (GRCm39)	Y136H	probably damaging	Het
Mga	T	A	2: 119,795,269 (GRCm39)	S2984R	possibly damaging	Het
Mkrn3	T	C	7: 62,068,675 (GRCm39)	N372S	probably benign	Het
Mtpap	A	G	18: 4,387,068 (GRCm39)	I373V	probably benign	Het
Mycbp2	G	A	14: 103,358,027 (GRCm39)	T4589M	probably damaging	Het
Myh2	A	G	11: 67,079,195 (GRCm39)	Q921R	probably benign	Het
Myom1	A	G	17: 71,352,544 (GRCm39)	D324G	possibly damaging	Het
Nat10	T	C	2: 103,584,514 (GRCm39)	K88E	probably benign	Het
Ncapd3	A	G	9: 26,981,254 (GRCm39)	R915G	probably damaging	Het
Nek4	T	C	14: 30,679,249 (GRCm39)	Y190H	probably damaging	Het
Nfasc	A	C	1: 132,529,790 (GRCm39)	Y797D	probably damaging	Het
Ngp	A	G	9: 110,249,978 (GRCm39)	D92G	probably benign	Het
Nos2	A	C	11: 78,820,680 (GRCm39)	H95P	probably damaging	Het
Nr3c1	ACGTC	ACGTCGTC	18: 39,619,513 (GRCm39)		probably benign	Het
Or10ag59	C	T	2: 87,405,863 (GRCm39)	T145I	probably benign	Het
Or5bw2	C	A	7: 6,573,715 (GRCm39)	H242N	probably damaging	Het
Or5p73	T	C	7: 108,064,642 (GRCm39)	I37T	possibly damaging	Het
Or5t18	A	T	2: 86,636,967 (GRCm39)	H125Q	possibly damaging	Het
Otogl	T	A	10: 107,606,471 (GRCm39)	D2154V	probably benign	Het
Pdss1	T	A	2: 22,825,653 (GRCm39)		probably null	Het
Pglyrp4	C	A	3: 90,640,281 (GRCm39)	A177D	probably damaging	Het
Phactr4	A	G	4: 132,104,489 (GRCm39)		probably null	Het
Phf8-ps	T	C	17: 33,284,501 (GRCm39)	D767G	probably benign	Het
Pik3cd	G	C	4: 149,744,171 (GRCm39)	N193K	probably benign	Het
Prr36	TACCTCTTC	T	8: 4,265,163 (GRCm39)		probably benign	Het
Prss38	A	T	11: 59,266,384 (GRCm39)	W25R	probably benign	Het
Prss8	T	A	7: 127,526,056 (GRCm39)	Q189L	probably damaging	Het
Psd	T	A	19: 46,303,240 (GRCm39)	D713V	probably damaging	Het
Rad51ap2	C	T	12: 11,507,692 (GRCm39)	T538I	probably benign	Het
Rarres1	T	C	3: 67,422,517 (GRCm39)	T78A	probably benign	Het
Rbl2	G	T	8: 91,828,922 (GRCm39)	G651*	probably null	Het
Rev3l	A	T	10: 39,699,601 (GRCm39)	Q1366L	probably damaging	Het
Rundc1	T	C	11: 101,320,413 (GRCm39)	S215P	probably benign	Het
Sanbr	A	T	11: 23,572,479 (GRCm39)	C130S	probably benign	Het
Scarf2	G	A	16: 17,620,837 (GRCm39)	W168*	probably null	Het
Sh2d7	A	G	9: 54,448,186 (GRCm39)	D69G	possibly damaging	Het
Slc26a4	A	T	12: 31,579,527 (GRCm39)	Y578*	probably null	Het
Slc2a9	A	T	5: 38,610,538 (GRCm39)	L87Q	probably damaging	Het
Slc39a10	A	T	1: 46,849,230 (GRCm39)	H795Q	probably damaging	Het
Spata13	C	T	14: 60,993,871 (GRCm39)	R1108W	probably damaging	Het
Sqle	T	C	15: 59,187,901 (GRCm39)	S70P	probably benign	Het
Syncrip	A	T	9: 88,346,716 (GRCm39)	F263I	probably damaging	Het
Synj2	T	C	17: 6,088,220 (GRCm39)	S1424P	possibly damaging	Het
Tax1bp3	A	T	11: 73,071,941 (GRCm39)	T89S	possibly damaging	Het
Tcaim	G	A	9: 122,648,092 (GRCm39)		probably null	Het
Tcp10c	T	C	17: 13,582,438 (GRCm39)	I240T	possibly damaging	Het
Ttll8	G	T	15: 88,801,442 (GRCm39)	N415K	probably benign	Het
Tut7	T	C	13: 59,969,463 (GRCm39)	E144G	probably benign	Het
Ugcg	T	C	4: 59,217,111 (GRCm39)	S212P	possibly damaging	Het
Vmn2r32	T	C	7: 7,482,807 (GRCm39)	K56E	probably benign	Het
Vmn2r55	T	C	7: 12,386,000 (GRCm39)	E660G	probably damaging	Het
Vmn2r7	T	C	3: 64,598,301 (GRCm39)	N752S	probably benign	Het
Vps54	T	A	11: 21,225,005 (GRCm39)	M167K	probably benign	Het
Vwa2	A	C	19: 56,897,791 (GRCm39)	M699L	probably benign	Het
Wdr59	A	G	8: 112,192,494 (GRCm39)	V689A		Het
Whamm	T	G	7: 81,235,995 (GRCm39)	N399K	probably damaging	Het
Zfp760	A	G	17: 21,941,760 (GRCm39)	K312E	probably benign	Het
Zkscan3	C	A	13: 21,578,983 (GRCm39)	V171L	probably benign	Het

Other mutations in Pex5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01980:Pex5	APN	6	124,375,339 (GRCm39)	missense	probably damaging	1.00
IGL02027:Pex5	APN	6	124,375,847 (GRCm39)	missense	probably benign	0.20
IGL02041:Pex5	APN	6	124,382,240 (GRCm39)	splice site	probably benign
IGL02128:Pex5	APN	6	124,375,419 (GRCm39)	missense	probably damaging	1.00
IGL02507:Pex5	APN	6	124,390,264 (GRCm39)	missense	probably benign
IGL02539:Pex5	APN	6	124,380,183 (GRCm39)	missense	probably benign	0.02
IGL03180:Pex5	APN	6	124,390,522 (GRCm39)	splice site	probably benign
G1Funyon:Pex5	UTSW	6	124,382,142 (GRCm39)	missense	probably benign	0.02
R0143:Pex5	UTSW	6	124,375,448 (GRCm39)	missense	probably damaging	1.00
R0600:Pex5	UTSW	6	124,381,596 (GRCm39)	missense	probably benign	0.10
R0904:Pex5	UTSW	6	124,376,896 (GRCm39)	splice site	probably benign
R1970:Pex5	UTSW	6	124,391,364 (GRCm39)	missense	probably damaging	1.00
R4628:Pex5	UTSW	6	124,380,079 (GRCm39)	missense	possibly damaging	0.90
R4879:Pex5	UTSW	6	124,375,322 (GRCm39)	missense	probably benign	0.02
R5068:Pex5	UTSW	6	124,390,555 (GRCm39)	missense	probably benign	0.01
R5069:Pex5	UTSW	6	124,390,555 (GRCm39)	missense	probably benign	0.01
R5339:Pex5	UTSW	6	124,374,963 (GRCm39)	missense	probably benign	0.02
R6433:Pex5	UTSW	6	124,390,572 (GRCm39)	missense	possibly damaging	0.81
R6825:Pex5	UTSW	6	124,391,340 (GRCm39)	missense	probably damaging	0.98
R6851:Pex5	UTSW	6	124,380,113 (GRCm39)	missense	possibly damaging	0.92
R7148:Pex5	UTSW	6	124,382,231 (GRCm39)	missense	probably benign	0.10
R7673:Pex5	UTSW	6	124,376,342 (GRCm39)	missense	probably damaging	0.98
R7752:Pex5	UTSW	6	124,390,977 (GRCm39)	missense	probably benign	0.03
R7752:Pex5	UTSW	6	124,380,860 (GRCm39)	missense	probably damaging	0.99
R7793:Pex5	UTSW	6	124,376,300 (GRCm39)	missense	probably benign	0.00
R8301:Pex5	UTSW	6	124,382,142 (GRCm39)	missense	probably benign	0.02
R8964:Pex5	UTSW	6	124,375,740 (GRCm39)	missense	probably benign	0.00
Z1177:Pex5	UTSW	6	124,375,345 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCGCTTGTGGTCATCAGC -3'
(R):5'- GGTCTCTGATGTTCTGACCC -3'

Sequencing Primer
(F):5'- CCCTTGGTAGGCCCGTTTGAG -3'
(R):5'- GATGTTCTGACCCACCCTC -3'

Posted On

2019-06-26