Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Pex5'

55296

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

038789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0600 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

124373775-124392026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124381596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 213 (N213S)

Ref Sequence

ENSEMBL: ENSMUSP00000108149 (fasta)

Gene Model

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

AlphaFold

O09012

Predicted Effect

probably benign
Transcript: ENSMUST00000035861
AA Change: N213S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: N213S

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: N213S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: N213S

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: N213S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: N213S

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: N213S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: N213S

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: N213S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: N213S

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

Meta Mutation Damage Score

0.0893

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,959,389 (GRCm39)	S150P	probably damaging	Het
5530400C23Rik	T	G	6: 133,270,174 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,591,033 (GRCm39)		probably null	Het
Ang5	T	C	14: 44,200,206 (GRCm39)	V90A	probably benign	Het
Ano9	C	T	7: 140,684,623 (GRCm39)	G442R	probably damaging	Het
Apaf1	G	A	10: 90,895,914 (GRCm39)	T386I	probably damaging	Het
Apob	C	A	12: 8,056,440 (GRCm39)	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,241,824 (GRCm39)	D791E	probably benign	Het
Avl9	T	C	6: 56,713,891 (GRCm39)	V383A	probably benign	Het
Btbd1	A	C	7: 81,465,754 (GRCm39)	D197E	probably damaging	Het
Camta2	T	C	11: 70,564,785 (GRCm39)	I938V	possibly damaging	Het
Ccn5	G	A	2: 163,667,233 (GRCm39)	C78Y	probably damaging	Het
Cdca7	C	A	2: 72,313,811 (GRCm39)	A200D	possibly damaging	Het
Cep104	A	T	4: 154,091,249 (GRCm39)	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,769,152 (GRCm39)	V601L	probably benign	Het
Ces2b	G	A	8: 105,562,542 (GRCm39)	G291S	probably benign	Het
Col6a6	C	T	9: 105,638,639 (GRCm39)	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,462,541 (GRCm39)	E1G	probably damaging	Het
Dand5	A	T	8: 85,542,921 (GRCm39)	L185Q	probably damaging	Het
Dck	T	C	5: 88,929,080 (GRCm39)	V253A	probably benign	Het
Ddx20	A	G	3: 105,586,396 (GRCm39)	S650P	probably damaging	Het
Dicer1	G	A	12: 104,673,123 (GRCm39)	P799S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eya2	G	A	2: 165,611,157 (GRCm39)	C477Y	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,290,217 (GRCm39)		probably null	Het
Gda	A	T	19: 21,411,667 (GRCm39)	F44I	possibly damaging	Het
Gli2	G	A	1: 118,768,119 (GRCm39)	R703C	probably damaging	Het
Golgb1	T	A	16: 36,736,633 (GRCm39)	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,219,651 (GRCm39)	D341G	probably damaging	Het
Grid2	G	T	6: 63,480,419 (GRCm39)	A78S	probably benign	Het
Hao2	A	T	3: 98,790,876 (GRCm39)		probably benign	Het
Hook3	A	G	8: 26,609,014 (GRCm39)	V10A	probably benign	Het
Kif20a	A	G	18: 34,762,262 (GRCm39)	E425G	probably damaging	Het
Lrp1	T	C	10: 127,403,252 (GRCm39)	D2107G	probably benign	Het
Lrriq3	T	C	3: 154,893,373 (GRCm39)	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,225,381 (GRCm39)	D17G	possibly damaging	Het
Mastl	G	T	2: 23,023,358 (GRCm39)	T455K	probably benign	Het
Mkln1	G	T	6: 31,409,862 (GRCm39)		probably benign	Het
Mmp1b	A	T	9: 7,387,947 (GRCm39)	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,634,517 (GRCm39)	A79V	probably benign	Het
Mrps35	T	A	6: 146,972,232 (GRCm39)	C292S	possibly damaging	Het
Myom1	T	C	17: 71,427,643 (GRCm39)	F1435L	possibly damaging	Het
Nars2	C	T	7: 96,689,130 (GRCm39)	H351Y	probably damaging	Het
Nat2	A	T	8: 67,953,919 (GRCm39)	I10F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm5	A	T	7: 103,803,076 (GRCm39)	Y462*	probably null	Het
Or13p5	C	T	4: 118,591,986 (GRCm39)	H87Y	probably damaging	Het
Or1j12	C	A	2: 36,342,660 (GRCm39)	A21E	probably benign	Het
Or2w3	C	A	11: 58,556,986 (GRCm39)	F200L	probably damaging	Het
Or4c122	C	A	2: 89,079,742 (GRCm39)	E87*	probably null	Het
Or4e1	T	C	14: 52,700,966 (GRCm39)	I167V	probably benign	Het
Or5p70	T	A	7: 107,994,438 (GRCm39)	I37N	probably damaging	Het
Or7g35	T	C	9: 19,496,600 (GRCm39)	S256P	possibly damaging	Het
Or8d2b	T	A	9: 38,789,111 (GRCm39)	I213N	probably damaging	Het
Or8g20	A	T	9: 39,396,284 (GRCm39)	F85L	probably benign	Het
Otog	A	T	7: 45,900,819 (GRCm39)		probably benign	Het
Pdcd2l	A	T	7: 33,892,232 (GRCm39)	D212E	possibly damaging	Het
Pkn3	C	T	2: 29,971,146 (GRCm39)	P238S	probably benign	Het
Pramel32	A	T	4: 88,547,536 (GRCm39)	I45K	probably damaging	Het
Prl2b1	A	T	13: 27,574,723 (GRCm39)		probably null	Het
Ptprb	A	T	10: 116,204,712 (GRCm39)	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,612,500 (GRCm39)	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,532,177 (GRCm39)	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,515,064 (GRCm39)	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,844,565 (GRCm39)	S436P	probably damaging	Het
Slc27a1	C	T	8: 72,036,808 (GRCm39)	P348L	probably damaging	Het
Slc28a2b	A	T	2: 122,344,879 (GRCm39)	I162F	probably damaging	Het
Smg1	G	A	7: 117,759,606 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,955,196 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,626,957 (GRCm39)	H112Q	probably damaging	Het
Tasor2	A	T	13: 3,626,054 (GRCm39)	F1299I	probably benign	Het
Tet2	A	G	3: 133,173,363 (GRCm39)	M1633T	probably benign	Het
Tet2	T	A	3: 133,173,486 (GRCm39)	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667 (GRCm39)	C8S	probably damaging	Het
Tnrc6a	T	A	7: 122,771,039 (GRCm39)	I943N	probably benign	Het
Trib2	A	T	12: 15,844,069 (GRCm39)	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,760,917 (GRCm39)	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,069,914 (GRCm39)	R250G	probably damaging	Het
Ubr2	T	C	17: 47,278,174 (GRCm39)	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,320,660 (GRCm39)	I63F	probably damaging	Het
Ush1c	G	A	7: 45,874,332 (GRCm39)	P171S	probably benign	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,074,253 (GRCm39)	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769 (GRCm39)	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,898,277 (GRCm39)	F431L	probably benign	Het
Wdr17	A	G	8: 55,114,530 (GRCm39)	I662T	probably damaging	Het
Wdr87-ps	T	A	7: 29,232,690 (GRCm39)		noncoding transcript	Het
Zfp160	G	A	17: 21,247,268 (GRCm39)	R606H	probably benign	Het
Zfp369	C	T	13: 65,444,248 (GRCm39)	R464C	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
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'- AGACACACATAGGCACCTTGGGAC -3'
(R):5'- TGAAGGCAGCATTATTGCCCCAC -3'

Sequencing Primer
(F):5'- GATCAAACACGAGGATTTCTGC -3'
(R):5'- TTCTTGCCACAGGTACGATG -3'

Posted On

2013-07-11