Mutagenetix > Incidental Mutation

Incidental Mutation 'R5208:Pex2'

402137

Institutional Source

Beutler Lab

Gene Symbol

Pex2

Ensembl Gene

ENSMUSG00000040374

Gene Name

peroxisomal biogenesis factor 2

Synonyms

Zellweger syndrome homolog, D3Ertd138e, Pxmp3, PMP35

MMRRC Submission

042783-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5625248-5641299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5626428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 127 (R127H)

Ref Sequence

ENSEMBL: ENSMUSP00000141927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059021] [ENSMUST00000071280] [ENSMUST00000164828] [ENSMUST00000165309] [ENSMUST00000191916] [ENSMUST00000195855]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059021
AA Change: R127H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059415
Gene: ENSMUSG00000040374
AA Change: R127H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	226	1.9e-40	PFAM
RING	244	283	7.45e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000071280
AA Change: R127H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071255
Gene: ENSMUSG00000040374
AA Change: R127H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	226	1.9e-40	PFAM
RING	244	283	7.45e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164828
AA Change: R127H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129311
Gene: ENSMUSG00000040374
AA Change: R127H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	226	1.9e-40	PFAM
RING	244	283	7.45e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165309
AA Change: R127H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126445
Gene: ENSMUSG00000040374
AA Change: R127H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	225	3.7e-39	PFAM
RING	244	283	7.45e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191916
AA Change: R127H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141945
Gene: ENSMUSG00000040374
AA Change: R127H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	226	1.9e-40	PFAM
RING	244	283	7.45e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195855
AA Change: R127H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141927
Gene: ENSMUSG00000040374
AA Change: R127H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	226	1.9e-40	PFAM
RING	244	283	7.45e-4	SMART

Coding Region Coverage

1x: 99.3%
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.] This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die sometime before weaning. Various abnormalities are seen in the central nervous system depending on the genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,344,398 (GRCm39)	N58I	probably benign	Het
Adgra3	T	C	5: 50,168,857 (GRCm39)	D163G	probably damaging	Het
Alcam	C	A	16: 52,115,411 (GRCm39)	E236*	probably null	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,619,008 (GRCm39)		probably null	Het
Arl4a	A	T	12: 40,086,744 (GRCm39)	M1K	probably null	Het
Asic4	A	G	1: 75,427,870 (GRCm39)	D132G	probably damaging	Het
Bbs12	T	C	3: 37,374,422 (GRCm39)	I290T	probably benign	Het
BC024139	A	G	15: 76,008,865 (GRCm39)	S290P	probably benign	Het
Bmp6	G	A	13: 38,653,673 (GRCm39)	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711 (GRCm38)	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,599,778 (GRCm39)		probably null	Het
Cdc42bpg	G	A	19: 6,371,750 (GRCm39)	R1343K	probably benign	Het
Cdk18	A	T	1: 132,045,218 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,403,243 (GRCm39)		probably null	Het
Cfhr1	A	T	1: 139,484,068 (GRCm39)		probably null	Het
Chn2	A	T	6: 54,272,786 (GRCm39)	I201F	probably damaging	Het
Chrdl2	A	G	7: 99,673,129 (GRCm39)	D175G	probably damaging	Het
Disp2	G	T	2: 118,622,286 (GRCm39)	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah3	C	G	7: 119,631,861 (GRCm39)	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,644,343 (GRCm39)	Y372*	probably null	Het
Eftud2	G	A	11: 102,732,011 (GRCm39)	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,691,545 (GRCm39)	S1170A	probably benign	Het
Gdpd4	A	C	7: 97,664,118 (GRCm39)	K572Q	probably benign	Het
Gm7356	T	C	17: 14,221,456 (GRCm39)	E191G	probably damaging	Het
Gm8674	A	T	13: 50,055,957 (GRCm39)		noncoding transcript	Het
Gulp1	T	G	1: 44,820,199 (GRCm39)	H235Q	probably benign	Het
Hormad1	T	C	3: 95,485,418 (GRCm39)	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,645,110 (GRCm39)	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,905,069 (GRCm39)	Y194F	possibly damaging	Het
Lars1	A	C	18: 42,350,622 (GRCm39)	S896A	probably benign	Het
Lonp1	A	G	17: 56,924,793 (GRCm39)	V538A	probably damaging	Het
Map3k14	A	T	11: 103,129,972 (GRCm39)	L315Q	probably damaging	Het
Met	T	A	6: 17,526,422 (GRCm39)	Y500*	probably null	Het
Mga	T	G	2: 119,778,462 (GRCm39)	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,313,078 (GRCm39)	I152L	probably benign	Het
Mthfsd	G	A	8: 121,835,058 (GRCm39)		probably benign	Het
Mup4	A	G	4: 59,958,119 (GRCm39)	F150L	probably damaging	Het
Mybph	T	A	1: 134,121,273 (GRCm39)	V11D	probably benign	Het
Or4f54	A	T	2: 111,122,946 (GRCm39)	E111V	probably damaging	Het
Or52n2c	A	G	7: 104,574,933 (GRCm39)	F13L	probably benign	Het
Or5ak20	T	A	2: 85,184,142 (GRCm39)	I43F	probably benign	Het
Pde4a	T	C	9: 21,114,854 (GRCm39)		probably null	Het
Pgap3	A	G	11: 98,288,874 (GRCm39)	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,202,467 (GRCm39)	V14A	probably benign	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Ptprn2	A	G	12: 116,822,548 (GRCm39)	Y209C	probably damaging	Het
Scart2	C	A	7: 139,877,949 (GRCm39)	A977D	probably benign	Het
Sema4c	T	A	1: 36,589,407 (GRCm39)	D573V	probably damaging	Het
Setx	A	T	2: 29,056,379 (GRCm39)	I2192F	possibly damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Sp4	A	G	12: 118,263,281 (GRCm39)	L255P	probably damaging	Het
Spaca7	A	G	8: 12,636,456 (GRCm39)	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,657,891 (GRCm39)	I390L	possibly damaging	Het
Tars2	A	G	3: 95,654,905 (GRCm39)	W128R	probably damaging	Het
Tll1	G	A	8: 64,504,527 (GRCm39)	T623M	probably damaging	Het
Tmem129	A	T	5: 33,812,850 (GRCm39)	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,870,051 (GRCm39)	I73F	probably benign	Het
Tnks1bp1	T	C	2: 84,900,976 (GRCm39)	M1561T	probably damaging	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp142	A	T	1: 74,610,027 (GRCm39)	V1153E	probably benign	Het
Zwilch	T	C	9: 64,060,205 (GRCm39)	I354V	probably benign	Het

Other mutations in Pex2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Pex2	APN	3	5,626,424 (GRCm39)	missense	probably benign	0.00
IGL03186:Pex2	APN	3	5,626,777 (GRCm39)	missense	probably benign	0.04
R0194:Pex2	UTSW	3	5,626,424 (GRCm39)	missense	probably benign	0.00
R0479:Pex2	UTSW	3	5,626,355 (GRCm39)	missense	probably damaging	1.00
R2145:Pex2	UTSW	3	5,626,650 (GRCm39)	missense	probably damaging	1.00
R2862:Pex2	UTSW	3	5,626,240 (GRCm39)	missense	probably damaging	1.00
R3890:Pex2	UTSW	3	5,626,008 (GRCm39)	missense	probably damaging	1.00
R3891:Pex2	UTSW	3	5,626,008 (GRCm39)	missense	probably damaging	1.00
R4627:Pex2	UTSW	3	5,626,341 (GRCm39)	missense	probably damaging	0.98
R5884:Pex2	UTSW	3	5,626,359 (GRCm39)	missense	probably benign
R6474:Pex2	UTSW	3	5,626,191 (GRCm39)	missense	probably damaging	1.00
R7158:Pex2	UTSW	3	5,626,396 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTACTCAAAGCCAACTTCGCG -3'
(R):5'- TGAAAGCATTTCTGTGGCTTTTCC -3'

Sequencing Primer
(F):5'- AAGCCAACTTCGCGCATGTTC -3'
(R):5'- ATGGAGGTTCACCATCTACTCC -3'

Posted On

2016-07-22