Mutagenetix > Incidental Mutation

Incidental Mutation 'R2483:Pex12'

250693

Institutional Source

Beutler Lab

Gene Symbol

Pex12

Ensembl Gene

ENSMUSG00000018733

Gene Name

peroxisomal biogenesis factor 12

Synonyms

MMRRC Submission

040407-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83182757-83189849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83188455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 180 (R180H)

Ref Sequence

ENSEMBL: ENSMUSP00000135632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000018877] [ENSMUST00000108146] [ENSMUST00000136369] [ENSMUST00000175741] [ENSMUST00000176518] [ENSMUST00000176374] [ENSMUST00000176944]

AlphaFold

Q8VC48

Predicted Effect

probably benign
Transcript: ENSMUST00000018875

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	2.6e-173	PFAM
Pfam:HEAT_2	88	157	3.7e-8	PFAM
Pfam:Cnd1	99	268	2.1e-40	PFAM
Pfam:HEAT_2	124	219	1.4e-9	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	654	675	N/A	INTRINSIC
Alpha_adaptinC2	721	831	2.94e-18	SMART
B2-adapt-app_C	840	950	9.93e-56	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018877
AA Change: R180H

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018877
Gene: ENSMUSG00000018733
AA Change: R180H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	267	3.1e-50	PFAM
RING	304	342	3.14e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083781

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108146
AA Change: R180H

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103781
Gene: ENSMUSG00000018733
AA Change: R180H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	268	6.4e-52	PFAM
RING	304	342	3.14e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153487

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175741
AA Change: R180H

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135145
Gene: ENSMUSG00000018733
AA Change: R180H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	268	6.4e-52	PFAM
RING	304	342	3.14e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176518
AA Change: R180H

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135632
Gene: ENSMUSG00000018733
AA Change: R180H

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	268	6.4e-52	PFAM
RING	304	342	3.14e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176545

Predicted Effect

probably benign
Transcript: ENSMUST00000176374

Predicted Effect

probably benign
Transcript: ENSMUST00000176944

SMART Domains

Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	199	3.4e-67	PFAM
Pfam:DNA_alkylation	18	196	4.6e-8	PFAM
Pfam:HEAT_2	88	185	3.1e-13	PFAM
Pfam:Cnd1	99	198	4.2e-27	PFAM
Pfam:HEAT	122	151	1.4e-5	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the peroxin-12 family. 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Ano6	A	T	15: 95,863,855 (GRCm39)	T792S	probably benign	Het
Atm	A	T	9: 53,421,566 (GRCm39)	V715D	probably damaging	Het
Avl9	A	G	6: 56,713,828 (GRCm39)	D362G	probably benign	Het
Bin1	T	A	18: 32,547,280 (GRCm39)	S152R	probably damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Btrc	A	G	19: 45,504,497 (GRCm39)	D397G	probably damaging	Het
Cables2	A	T	2: 179,902,222 (GRCm39)	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,389,221 (GRCm39)	L228P	probably damaging	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cdh26	A	T	2: 178,108,382 (GRCm39)	S327C	probably damaging	Het
Cep78	T	C	19: 15,938,344 (GRCm39)	K535E	probably damaging	Het
Ces1a	A	G	8: 93,753,969 (GRCm39)	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,741,347 (GRCm39)	R2524I	probably damaging	Het
Cracd	A	T	5: 77,004,256 (GRCm39)	I206F	probably damaging	Het
Dctn1	G	A	6: 83,171,169 (GRCm39)	R661H	probably damaging	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Emx1	T	C	6: 85,165,237 (GRCm39)	S105P	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Fam193a	A	T	5: 34,623,102 (GRCm39)	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,347,028 (GRCm39)	Q207R	probably benign	Het
Gm5460	G	A	14: 33,767,775 (GRCm39)	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,783,660 (GRCm39)	I249T	probably benign	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igfn1	T	C	1: 135,897,275 (GRCm39)	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,161,245 (GRCm39)	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,076,710 (GRCm39)	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,357,758 (GRCm39)	C94G	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Myh1	A	T	11: 67,102,052 (GRCm39)	M811L	probably benign	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,755,565 (GRCm39)	T979A	probably benign	Het
Myo18b	A	T	5: 113,006,274 (GRCm39)	C879S	probably damaging	Het
Myom1	A	G	17: 71,384,807 (GRCm39)	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,215,542 (GRCm39)	C74R	possibly damaging	Het
Obscn	A	G	11: 58,970,972 (GRCm39)	F2514L	probably damaging	Het
Or4a69	G	A	2: 89,313,471 (GRCm39)	Q3*	probably null	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
Or5p81	CAAATA	CA	7: 108,266,869 (GRCm39)		probably null	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcdha5	G	T	18: 37,094,542 (GRCm39)	M350I	probably benign	Het
Pcdha5	G	A	18: 37,094,834 (GRCm39)	V448M	probably damaging	Het
Pip4p1	C	G	14: 51,167,749 (GRCm39)	V59L	probably damaging	Het
Pkd1l1	A	T	11: 8,912,701 (GRCm39)	V168E	probably damaging	Het
Prokr2	T	A	2: 132,223,095 (GRCm39)	D149V	probably damaging	Het
Rnf123	A	G	9: 107,940,720 (GRCm39)	V707A	probably benign	Het
Ryr2	T	C	13: 11,774,589 (GRCm39)	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,406,117 (GRCm39)	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,309,260 (GRCm39)		probably null	Het
Shfl	A	T	9: 20,784,473 (GRCm39)	I186F	possibly damaging	Het
Skic3	A	G	13: 76,330,986 (GRCm39)	E1472G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Snapc1	A	G	12: 74,011,417 (GRCm39)	T28A	probably benign	Het
Soat1	T	C	1: 156,258,669 (GRCm39)	Y528C	probably damaging	Het
Spem1	G	A	11: 69,712,344 (GRCm39)	R107C	possibly damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,016,388 (GRCm39)	N691K	probably damaging	Het
Syne2	A	T	12: 76,142,311 (GRCm39)	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tenm3	G	A	8: 48,693,305 (GRCm39)	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,030,809 (GRCm39)	V1048D	probably damaging	Het
Vav3	T	C	3: 109,248,482 (GRCm39)	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Wwp2	A	G	8: 108,275,167 (GRCm39)	D388G	probably damaging	Het
Xirp2	A	T	2: 67,355,336 (GRCm39)	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,360,701 (GRCm39)		probably benign	Het

Other mutations in Pex12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02992:Pex12	APN	11	83,188,753 (GRCm39)	missense	probably damaging	1.00
BB006:Pex12	UTSW	11	83,188,809 (GRCm39)	missense	probably damaging	1.00
BB016:Pex12	UTSW	11	83,188,809 (GRCm39)	missense	probably damaging	1.00
R0725:Pex12	UTSW	11	83,188,860 (GRCm39)	missense	probably damaging	0.99
R1839:Pex12	UTSW	11	83,188,648 (GRCm39)	missense	probably damaging	0.99
R2932:Pex12	UTSW	11	83,187,049 (GRCm39)	missense	probably benign
R5430:Pex12	UTSW	11	83,188,572 (GRCm39)	missense	probably damaging	0.96
R5526:Pex12	UTSW	11	83,187,090 (GRCm39)	missense	possibly damaging	0.62
R7135:Pex12	UTSW	11	83,188,468 (GRCm39)	missense	probably benign
R7929:Pex12	UTSW	11	83,188,809 (GRCm39)	missense	probably damaging	1.00
R9688:Pex12	UTSW	11	83,189,257 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TAGCTAGGGTAGACCGGATG -3'
(R):5'- GGAAATCTGCCATGTTCCTTG -3'

Sequencing Primer
(F):5'- CTAGGGTAGACCGGATGATTGGTAC -3'
(R):5'- GTCCTTCTTCCCTATCTGAAAGTG -3'

Posted On

2014-12-04