Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:Pex5'

553941

Institutional Source

Beutler Lab

Gene Symbol

Pex5

Ensembl Gene

ENSMUSG00000005069

Gene Name

peroxisomal biogenesis factor 5

Synonyms

ESTM1, peroxisome biogenesis factor 5, PTS1R, Pxr1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124396816-124415067 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 124405272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 150 (D150A)

Ref Sequence

ENSEMBL: ENSMUSP00000049132 (fasta)

Gene Model

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

AlphaFold

O09012

Predicted Effect

probably benign
Transcript: ENSMUST00000035861
AA Change: D150A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: D150A

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 benign
Transcript: ENSMUST00000080557
AA Change: D150A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: D150A

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: D150A

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: D150A

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 benign
Transcript: ENSMUST00000112531
AA Change: D150A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: D150A

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: D150A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: D150A

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: 99.7%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,388,312	Y14F	probably damaging	Het
2410131K14Rik	A	G	5: 118,255,694	N46D	probably benign	Het
4930563D23Rik	T	C	16: 92,320,987	K138E	probably benign	Het
Acly	A	G	11: 100,483,782	V805A	possibly damaging	Het
AF366264	T	A	8: 13,837,996	I32L	probably benign	Het
Apcdd1	T	C	18: 62,951,845	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,465,930	F127I	probably benign	Het
Ccdc129	T	C	6: 55,897,686	I207T	probably damaging	Het
Ccdc138	T	C	10: 58,538,280	L374P	probably damaging	Het
Ces2b	A	G	8: 104,838,296	Y504C	probably damaging	Het
Ces5a	C	T	8: 93,502,322	G427S	probably damaging	Het
Chd1l	C	T	3: 97,591,316	V256M	probably damaging	Het
Col24a1	C	T	3: 145,315,299	T477M	probably damaging	Het
Dmbt1	T	A	7: 131,066,734	C573*	probably null	Het
Emcn	A	T	3: 137,417,094	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,071,144	M1R	probably null	Het
Fam83h	C	A	15: 76,005,167	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,755,675	K664E	probably benign	Het
Fzd9	A	G	5: 135,249,690	V447A	probably benign	Het
Gm21964	G	T	8: 110,109,416	R119I	probably benign	Het
Heatr5b	T	C	17: 78,831,434	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,686,854	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,902	L258Q	probably damaging	Het
Kmo	T	A	1: 175,651,602	C235S	probably damaging	Het
Lamc2	G	A	1: 153,185,984	P2S	probably benign	Het
Lman2	G	A	13: 55,352,949	P146S	probably benign	Het
Mars2	T	C	1: 55,237,514	I92T	probably damaging	Het
Msh3	A	G	13: 92,354,822	F27L	probably benign	Het
Myom2	T	C	8: 15,084,577	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,295,107	*214R	probably null	Het
Nsd2	T	C	5: 33,885,511	F1040L	possibly damaging	Het
Olfr374	T	A	8: 72,110,157	I197N	possibly damaging	Het
Osm	T	A	11: 4,239,936	I240N	probably benign	Het
Pard3b	T	A	1: 62,440,032	D884E	probably benign	Het
Pfkfb4	T	C	9: 109,027,608	V394A	probably damaging	Het
Pjvk	A	G	2: 76,658,487	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Prpf4b	T	G	13: 34,894,472	N688K	probably benign	Het
R3hcc1	T	C	14: 69,705,552	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,719,119	G207*	probably null	Het
Rhobtb3	G	T	13: 75,910,887	T264K	probably benign	Het
Rpl27	A	G	11: 101,442,406		probably benign	Het
Rxfp3	C	T	15: 11,036,777	V170I	possibly damaging	Het
Samd4	T	A	14: 47,016,683	S201R	probably benign	Het
Sell	A	G	1: 164,065,607	I131V	possibly damaging	Het
Sirpb1c	A	T	3: 15,833,059	Y205*	probably null	Het
Smc3	A	T	19: 53,641,895	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,479,355	V185L	probably benign	Het
Spata4	A	C	8: 54,602,550	I159L	probably benign	Het
Tekt2	A	G	4: 126,322,381	I373T	probably benign	Het
Tomm20l	T	C	12: 71,117,539	V65A	probably benign	Het
Trabd2b	A	G	4: 114,409,350	D187G	probably damaging	Het
Trrap	A	G	5: 144,821,803	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,008	C440*	probably null	Het
Ube3b	A	C	5: 114,406,252	N570T	probably damaging	Het
Uevld	A	G	7: 46,950,976	I70T	probably damaging	Het
Usp10	C	T	8: 119,936,550	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,713,022	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,765,216	V601A	probably benign	Het
Wdr81	G	C	11: 75,446,002	N401K		Het
Ythdc2	G	T	18: 44,833,122	V142F	probably benign	Het
Zfp346	T	C	13: 55,105,450	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,542,239	V301M	possibly damaging	Het
Zim1	T	C	7: 6,678,221	K148E	possibly damaging	Het

Other mutations in Pex5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01980:Pex5	APN	6	124398380	missense	probably damaging	1.00
IGL02027:Pex5	APN	6	124398888	missense	probably benign	0.20
IGL02041:Pex5	APN	6	124405281	splice site	probably benign
IGL02128:Pex5	APN	6	124398460	missense	probably damaging	1.00
IGL02507:Pex5	APN	6	124413305	missense	probably benign
IGL02539:Pex5	APN	6	124403224	missense	probably benign	0.02
IGL03180:Pex5	APN	6	124413563	splice site	probably benign
G1Funyon:Pex5	UTSW	6	124405183	missense	probably benign	0.02
R0143:Pex5	UTSW	6	124398489	missense	probably damaging	1.00
R0600:Pex5	UTSW	6	124404637	missense	probably benign	0.10
R0904:Pex5	UTSW	6	124399937	splice site	probably benign
R1970:Pex5	UTSW	6	124414405	missense	probably damaging	1.00
R4628:Pex5	UTSW	6	124403120	missense	possibly damaging	0.90
R4879:Pex5	UTSW	6	124398363	missense	probably benign	0.02
R5068:Pex5	UTSW	6	124413596	missense	probably benign	0.01
R5069:Pex5	UTSW	6	124413596	missense	probably benign	0.01
R5339:Pex5	UTSW	6	124398004	missense	probably benign	0.02
R6433:Pex5	UTSW	6	124413613	missense	possibly damaging	0.81
R6825:Pex5	UTSW	6	124414381	missense	probably damaging	0.98
R6851:Pex5	UTSW	6	124403154	missense	possibly damaging	0.92
R7286:Pex5	UTSW	6	124398063	nonsense	probably null
R7673:Pex5	UTSW	6	124399383	missense	probably damaging	0.98
R7752:Pex5	UTSW	6	124403901	missense	probably damaging	0.99
R7752:Pex5	UTSW	6	124414018	missense	probably benign	0.03
R7793:Pex5	UTSW	6	124399341	missense	probably benign	0.00
R8301:Pex5	UTSW	6	124405183	missense	probably benign	0.02
R8964:Pex5	UTSW	6	124398781	missense	probably benign	0.00
Z1177:Pex5	UTSW	6	124398386	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGCAAGCTAGTGAGGAC -3'
(R):5'- AGCCTAAGTTCTTCCCTGAGCC -3'

Sequencing Primer
(F):5'- CAAGCTAGTGAGGACGCAGAG -3'
(R):5'- GTAGGGCTCCTGTTCTCAGC -3'

Posted On

2019-05-15