Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Pex5'

22437

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

038428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124373775-124392026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124375448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 525 (W525R)

Ref Sequence

ENSEMBL: ENSMUSP00000108151 (fasta)

Gene Model

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

AlphaFold

O09012

Predicted Effect

probably damaging
Transcript: ENSMUST00000035861
AA Change: W525R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: W525R

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 damaging
Transcript: ENSMUST00000080557
AA Change: W488R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: W488R

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 damaging
Transcript: ENSMUST00000112530
AA Change: W518R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: W518R

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 damaging
Transcript: ENSMUST00000112531
AA Change: W488R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: W488R

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 damaging
Transcript: ENSMUST00000112532
AA Change: W525R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: W525R

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: ENSMUST00000150899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156415

Meta Mutation Damage Score

0.9675

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,988,288 (GRCm39)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,096,713 (GRCm39)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,576,268 (GRCm39)	E500G	probably damaging	Het
Arhgef12	T	C	9: 42,916,890 (GRCm39)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,523,072 (GRCm39)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
C4b	G	A	17: 34,953,193 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,324,693 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,237,857 (GRCm39)	V17A	probably benign	Het
Cog7	A	T	7: 121,550,387 (GRCm39)	L379Q	probably damaging	Het
Cul9	T	C	17: 46,837,336 (GRCm39)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,493,071 (GRCm39)	D258N	probably damaging	Het
Ddx39a	T	C	8: 84,447,179 (GRCm39)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,179,671 (GRCm39)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,413,640 (GRCm39)	T334A	probably benign	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,463,846 (GRCm39)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,847,243 (GRCm39)	R78C	probably benign	Het
Fes	A	C	7: 80,033,643 (GRCm39)	F203V	probably benign	Het
Fhad1	C	A	4: 141,656,957 (GRCm39)		probably benign	Het
Gjb2	T	C	14: 57,337,526 (GRCm39)		silent	Het
Gm5828	T	C	1: 16,838,579 (GRCm39)		noncoding transcript	Het
Gsdma	A	C	11: 98,557,080 (GRCm39)	E65A	probably damaging	Het
Hck	T	A	2: 152,976,140 (GRCm39)		probably null	Het
Henmt1	A	T	3: 108,861,118 (GRCm39)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,005,099 (GRCm39)	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,513,617 (GRCm39)		probably benign	Het
Igsf3	T	C	3: 101,342,917 (GRCm39)	I518T	probably damaging	Het
Ireb2	T	C	9: 54,793,193 (GRCm39)	F223L	probably benign	Het
Isoc2a	T	C	7: 4,894,331 (GRCm39)		probably null	Het
Krt73	T	A	15: 101,709,208 (GRCm39)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,429,811 (GRCm39)	F420L	probably damaging	Het
Mep1b	T	C	18: 21,228,164 (GRCm39)		probably benign	Het
Mex3a	G	T	3: 88,443,562 (GRCm39)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm39)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,255,991 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,053,433 (GRCm39)	D2032G	probably damaging	Het
Or10h28	T	C	17: 33,488,471 (GRCm39)	S258P	probably damaging	Het
Or5p1	A	G	7: 107,916,202 (GRCm39)	I34V	probably benign	Het
Or9i1b	A	C	19: 13,896,614 (GRCm39)	I77L	probably damaging	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Plcb4	T	A	2: 135,818,131 (GRCm39)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,012,144 (GRCm39)	L372F	probably damaging	Het
Polg2	C	A	11: 106,668,352 (GRCm39)	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,670 (GRCm39)	G594A	probably damaging	Het
Prss1	A	G	6: 41,440,522 (GRCm39)	D199G	probably damaging	Het
Rbms2	T	A	10: 127,973,823 (GRCm39)	Q207L	probably benign	Het
Retreg2	A	G	1: 75,123,074 (GRCm39)	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,253,929 (GRCm39)	C622G	probably benign	Het
Spdya	T	A	17: 71,865,635 (GRCm39)	D84E	probably damaging	Het
Stat3	A	T	11: 100,785,982 (GRCm39)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,695,088 (GRCm39)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,651 (GRCm39)		probably benign	Het
Tnrc6c	A	C	11: 117,643,811 (GRCm39)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,701,389 (GRCm39)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 155,935,294 (GRCm39)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,562,418 (GRCm39)	H303L	probably benign	Het
Traf3	T	A	12: 111,228,010 (GRCm39)	V407D	probably damaging	Het
Trim33	T	A	3: 103,259,417 (GRCm39)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,737,920 (GRCm39)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,439,914 (GRCm39)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,597,009 (GRCm39)		probably benign	Het
Zdbf2	A	T	1: 63,347,233 (GRCm39)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,314,475 (GRCm39)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm39)		probably benign	Het
Zfp81	G	A	17: 33,554,095 (GRCm39)	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,655,994 (GRCm39)	D266G	possibly 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
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
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'- TGCATGTTCAGAGCCTCCAGAAAG -3'
(R):5'- ATGTGGGAGATTGCGTTCCAGC -3'

Sequencing Primer
(F):5'- ggagggagggagggagg -3'
(R):5'- AAAGCCTTGGGAAGCCTG -3'

Posted On

2013-04-16