Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Pex2'

310322

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

040802-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5625248-5641299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5626008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 267 (C267Y)

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 damaging
Transcript: ENSMUST00000059021
AA Change: C267Y

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

SMART Domains

Protein: ENSMUSP00000059415
Gene: ENSMUSG00000040374
AA Change: C267Y

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 damaging
Transcript: ENSMUST00000071280
AA Change: C267Y

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

SMART Domains

Protein: ENSMUSP00000071255
Gene: ENSMUSG00000040374
AA Change: C267Y

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 damaging
Transcript: ENSMUST00000164828
AA Change: C267Y

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

SMART Domains

Protein: ENSMUSP00000129311
Gene: ENSMUSG00000040374
AA Change: C267Y

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 damaging
Transcript: ENSMUST00000165309
AA Change: C267Y

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

SMART Domains

Protein: ENSMUSP00000126445
Gene: ENSMUSG00000040374
AA Change: C267Y

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 damaging
Transcript: ENSMUST00000191916
AA Change: C267Y

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

SMART Domains

Protein: ENSMUSP00000141945
Gene: ENSMUSG00000040374
AA Change: C267Y

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 damaging
Transcript: ENSMUST00000195855
AA Change: C267Y

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

SMART Domains

Protein: ENSMUSP00000141927
Gene: ENSMUSG00000040374
AA Change: C267Y

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

Meta Mutation Damage Score

0.9690

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,604,700 (GRCm39)	Y201C	probably damaging	Het
Adam10	A	G	9: 70,676,136 (GRCm39)	T624A	probably benign	Het
Atf2	T	C	2: 73,693,557 (GRCm39)	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,564,043 (GRCm39)	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,359,299 (GRCm39)	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,060,492 (GRCm39)	C1342G	probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,779,310 (GRCm39)	S598P	probably damaging	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Ect2	T	C	3: 27,192,689 (GRCm39)	D387G	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,621,624 (GRCm39)	I529N	probably benign	Het
Frs3	A	G	17: 48,014,360 (GRCm39)	D351G	probably damaging	Het
Gcat	T	A	15: 78,921,376 (GRCm39)	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,736,026 (GRCm39)	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,394,822 (GRCm39)	I571T	probably benign	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mettl1	T	C	10: 126,880,998 (GRCm39)		probably null	Het
Mettl15	A	G	2: 109,021,924 (GRCm39)	I127T	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Mobp	G	A	9: 119,997,022 (GRCm39)	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myrip	A	G	9: 120,251,324 (GRCm39)	E210G	probably damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2aj5	A	G	16: 19,425,205 (GRCm39)	I71T	probably damaging	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pdgfra	A	G	5: 75,328,588 (GRCm39)	N240S	probably null	Het
Pdxdc1	T	C	16: 13,654,312 (GRCm39)	T759A	probably benign	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Prdm15	T	C	16: 97,600,771 (GRCm39)	H829R	probably damaging	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,465,804 (GRCm39)	H382Q	possibly damaging	Het
Rprd2	A	T	3: 95,672,536 (GRCm39)	F956I	probably damaging	Het
Samd1	G	A	8: 84,724,361 (GRCm39)		probably benign	Het
Slc4a11	A	T	2: 130,527,705 (GRCm39)	S592T	probably damaging	Het
Slc5a4b	A	G	10: 75,898,094 (GRCm39)	V540A	probably benign	Het
Slfn8	G	A	11: 82,895,270 (GRCm39)	T512I	possibly damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Sorl1	G	A	9: 41,915,401 (GRCm39)	T1276M	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Speer4f1	T	C	5: 17,684,500 (GRCm39)	I176T	probably damaging	Het
Spint1	T	C	2: 119,079,283 (GRCm39)	I455T	probably benign	Het
Srp54a	A	G	12: 55,135,978 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,414,875 (GRCm39)	N222K	probably damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tanc2	A	T	11: 105,689,504 (GRCm39)	D222V	probably damaging	Het
Tasor2	T	C	13: 3,646,785 (GRCm39)	E80G	probably damaging	Het
Thsd7a	G	A	6: 12,418,336 (GRCm39)	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,507,144 (GRCm39)	H723Y	probably benign	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	probably damaging	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
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
R5208:Pex2	UTSW	3	5,626,428 (GRCm39)	missense	probably benign
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'- GGATGACTAATTCCAAGGAACTGG -3'
(R):5'- AGGGAACTTCTCTGGCATGG -3'

Sequencing Primer
(F):5'- GGATACAATACACTTTTCTCAGAGG -3'
(R):5'- GAACTTCTCTGGCATGGCTTTGC -3'

Posted On

2015-04-17