Mutagenetix > Incidental Mutation

Incidental Mutation 'R4628:Pex5'

348945

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

041893-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4628 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124373775-124392026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124380079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 286 (D286G)

Ref Sequence

ENSEMBL: ENSMUSP00000108150 (fasta)

Gene Model

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

AlphaFold

O09012

Predicted Effect

probably benign
Transcript: ENSMUST00000035861
AA Change: D323G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: D323G

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

possibly damaging
Transcript: ENSMUST00000080557
AA Change: D286G

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: D286G

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 benign
Transcript: ENSMUST00000112530
AA Change: D316G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: D316G

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

possibly damaging
Transcript: ENSMUST00000112531
AA Change: D286G

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: D286G

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 benign
Transcript: ENSMUST00000112532
AA Change: D323G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: D323G

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

noncoding transcript
Transcript: ENSMUST00000150812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156415

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,851,022 (GRCm39)		probably null	Het
Abcb4	A	G	5: 8,957,399 (GRCm39)	D176G	probably benign	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd12	T	C	17: 66,292,989 (GRCm39)	T815A	probably benign	Het
Arid3a	T	C	10: 79,766,992 (GRCm39)	S89P	possibly damaging	Het
Ass1	A	T	2: 31,371,000 (GRCm39)	D63V	probably damaging	Het
Atxn3	T	A	12: 101,889,337 (GRCm39)		probably benign	Het
Bcap29	C	T	12: 31,676,806 (GRCm39)	S88N	probably benign	Het
Bsn	G	T	9: 107,990,434 (GRCm39)	P1773T	probably damaging	Het
Ccdc141	A	G	2: 76,890,024 (GRCm39)	S423P	probably benign	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chd8	T	C	14: 52,444,372 (GRCm39)	R438G	probably benign	Het
Chd9	T	A	8: 91,710,091 (GRCm39)	M289K	probably benign	Het
Col14a1	T	A	15: 55,313,229 (GRCm39)	Y26*	probably null	Het
Colec10	A	G	15: 54,323,127 (GRCm39)	T117A	possibly damaging	Het
Colq	C	A	14: 31,265,979 (GRCm39)	G178V	probably damaging	Het
Defb3	A	T	8: 19,345,156 (GRCm39)	R37S	probably benign	Het
Duox1	A	G	2: 122,176,733 (GRCm39)	Y1418C	probably damaging	Het
Engase	C	T	11: 118,375,731 (GRCm39)	S33F	probably damaging	Het
Erich3	A	T	3: 154,469,324 (GRCm39)	T1259S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fhod3	T	A	18: 25,253,186 (GRCm39)	F1379I	possibly damaging	Het
Fndc3b	T	C	3: 27,610,277 (GRCm39)	I86V	probably benign	Het
Gm1123	A	G	9: 98,896,289 (GRCm39)	V197A	probably damaging	Het
Gm4847	A	T	1: 166,457,964 (GRCm39)	V463E	probably damaging	Het
Gm9772	T	C	17: 22,226,188 (GRCm39)	K32R	probably damaging	Het
Gm9804	T	C	12: 49,448,540 (GRCm39)	S161P	unknown	Het
Gpr162	C	T	6: 124,838,405 (GRCm39)	D82N	probably benign	Het
Grid2ip	T	C	5: 143,368,630 (GRCm39)	V650A	probably damaging	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Hsd3b6	T	G	3: 98,713,895 (GRCm39)	K135Q	possibly damaging	Het
Igfn1	T	C	1: 135,887,468 (GRCm39)	D2532G	possibly damaging	Het
Iqgap2	A	G	13: 95,899,837 (GRCm39)	Y74H	probably benign	Het
Itga2	A	G	13: 115,014,229 (GRCm39)	V233A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lcmt1	T	A	7: 123,010,035 (GRCm39)	C183*	probably null	Het
Lcn5	A	G	2: 25,548,075 (GRCm39)	E28G	possibly damaging	Het
Leo1	A	T	9: 75,352,979 (GRCm39)	D174V	probably damaging	Het
Llgl1	A	T	11: 60,600,811 (GRCm39)	T636S	probably damaging	Het
Lrrc8e	T	A	8: 4,283,981 (GRCm39)	C69S	probably damaging	Het
Maml3	A	T	3: 51,703,891 (GRCm39)		probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mrpl24	A	C	3: 87,829,436 (GRCm39)		probably null	Het
Myo18a	G	A	11: 77,714,962 (GRCm39)	V834M	probably damaging	Het
Neb	T	A	2: 52,198,362 (GRCm39)	R461*	probably null	Het
Notch4	C	A	17: 34,789,159 (GRCm39)	T486N	probably damaging	Het
Nphp3	A	G	9: 103,880,257 (GRCm39)	E93G	probably damaging	Het
Nup188	A	G	2: 30,219,358 (GRCm39)	Y858C	probably damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or13a28	C	T	7: 140,218,297 (GRCm39)	R228C	probably benign	Het
Or1j11	T	A	2: 36,311,869 (GRCm39)	L153*	probably null	Het
Otud4	T	A	8: 80,366,597 (GRCm39)	D21E	possibly damaging	Het
Ovgp1	T	A	3: 105,887,639 (GRCm39)		probably null	Het
Pdia3	A	T	2: 121,244,620 (GRCm39)	N11I	possibly damaging	Het
Pias3	T	C	3: 96,607,136 (GRCm39)	I133T	probably damaging	Het
Postn	A	G	3: 54,279,578 (GRCm39)	D352G	probably damaging	Het
Prl7c1	T	C	13: 27,962,065 (GRCm39)	R81G	probably benign	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rtraf	T	A	14: 19,867,155 (GRCm39)	N116I	probably benign	Het
Semp2l2a	T	A	8: 13,886,625 (GRCm39)	R489W	probably damaging	Het
Slc6a12	T	A	6: 121,328,951 (GRCm39)	C50*	probably null	Het
Spring1	G	C	5: 118,397,479 (GRCm39)	A154P	probably damaging	Het
Srcin1	T	A	11: 97,439,752 (GRCm39)	H126L	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Uroc1	A	T	6: 90,332,310 (GRCm39)	I556F	probably damaging	Het
Vmn1r124	T	A	7: 20,994,302 (GRCm39)	K81*	probably null	Het
Vmn1r57	T	A	7: 5,223,972 (GRCm39)	C166S	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r68	A	G	7: 84,883,673 (GRCm39)	V144A	probably benign	Het
Vmn2r85	C	T	10: 130,261,235 (GRCm39)	M367I	probably benign	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfhx4	G	A	3: 5,468,536 (GRCm39)	R2898H	probably damaging	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
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
R7286:Pex5	UTSW	6	124,375,022 (GRCm39)	nonsense	probably null
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'- CTCGTGGGCATTATGTCACTG -3'
(R):5'- CTGAAGTTTGCAGCTCATTGTTC -3'

Sequencing Primer
(F):5'- ATGTCACTGTGTGATCTGAAAAGG -3'
(R):5'- GTTCTAACAATTATATCCCTGTGGG -3'

Posted On

2015-10-08