Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Pex5'

388537

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

042659-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124373775-124392026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124390555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 97 (S97P)

Ref Sequence

ENSEMBL: ENSMUSP00000108151 (fasta)

Gene Model

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

AlphaFold

O09012

Predicted Effect

probably benign
Transcript: ENSMUST00000035861
AA Change: S97P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: S97P

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: S97P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: S97P

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: S97P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: S97P

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: S97P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: S97P

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: S97P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: S97P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	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
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'- TCTCAGACAAGGCCAAATCTGC -3'
(R):5'- TTCTCTGTCCAACATCAGTGGG -3'

Sequencing Primer
(F):5'- AATCTGCCACACCAGGGG -3'
(R):5'- TCCAACATCAGTGGGCCCTG -3'

Posted On

2016-06-06