Mutagenetix > Incidental Mutation

Incidental Mutation 'R6868:Pxmp2'

536015

Institutional Source

Beutler Lab

Gene Symbol

Pxmp2

Ensembl Gene

ENSMUSG00000029499

Gene Name

peroxisomal membrane protein 2

Synonyms

22kDa, PMP22

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R6868 (G1)

Quality Score

132.008

Status

Not validated

Chromosome

Chromosomal Location

110422152-110434036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110433846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 9 (R9Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007296] [ENSMUST00000031472] [ENSMUST00000112482] [ENSMUST00000155266]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000007296

SMART Domains

Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080

Domain	Start	End	E-Value	Type
POLBc	267	870	9.42e-97	SMART
Blast:POLBc	903	970	1e-28	BLAST
Blast:POLBc	1014	1073	2e-22	BLAST
Blast:POLBc	1195	1266	7e-21	BLAST
low complexity region	1275	1294	N/A	INTRINSIC
Blast:DUF1744	1401	1430	2e-7	BLAST
DUF1744	1524	1924	1.9e-236	SMART
coiled coil region	1936	1963	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000031472
AA Change: R9Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031472
Gene: ENSMUSG00000029499
AA Change: R9Q

Domain	Start	End	E-Value	Type
low complexity region	17	35	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	113	125	N/A	INTRINSIC
Pfam:Mpv17_PMP22	128	192	2.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112482

SMART Domains

Protein: ENSMUSP00000108101
Gene: ENSMUSG00000007080

Domain	Start	End	E-Value	Type
Pfam:DNA_pol_B_exo1	86	190	1.5e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155266
AA Change: R9Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117729
Gene: ENSMUSG00000029499
AA Change: R9Q

Domain	Start	End	E-Value	Type
low complexity region	17	35	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display impaired lactation, increased serum urate levels, elevated urinary clearence of urate, and abnormal liver peroxisomal membrane permeability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,559 (GRCm39)	N204I	probably damaging	Het
Aasdh	C	T	5: 77,039,527 (GRCm39)	V261M	probably damaging	Het
Adgrg7	A	G	16: 56,593,839 (GRCm39)	F126L	probably benign	Het
Agxt2	T	C	15: 10,373,855 (GRCm39)	L87P	probably damaging	Het
Alcam	G	A	16: 52,088,748 (GRCm39)	S554F	probably damaging	Het
Ambra1	T	C	2: 91,747,878 (GRCm39)	S1205P	possibly damaging	Het
Bst2	A	C	8: 71,987,404 (GRCm39)	V150G	unknown	Het
C3	T	C	17: 57,511,029 (GRCm39)	Y1659C	possibly damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cdk4	T	C	10: 126,900,870 (GRCm39)	V174A	probably benign	Het
Ces2h	T	A	8: 105,745,055 (GRCm39)	N396K	probably benign	Het
Cfap144	C	T	11: 58,683,732 (GRCm39)	D113N	probably damaging	Het
Chd7	T	C	4: 8,811,501 (GRCm39)		probably null	Het
Cnih4	A	G	1: 180,993,762 (GRCm39)	I76V	probably null	Het
Csmd2	G	A	4: 128,336,633 (GRCm39)	V1404I	probably benign	Het
Ctrb1	T	C	8: 112,416,035 (GRCm39)	D53G	probably benign	Het
Cul9	C	A	17: 46,833,109 (GRCm39)	R1323L	possibly damaging	Het
Dchs1	A	G	7: 105,412,710 (GRCm39)	V1230A	possibly damaging	Het
Dgat2	T	C	7: 98,807,513 (GRCm39)	D219G	probably benign	Het
Dgkh	T	C	14: 78,862,293 (GRCm39)	T225A	probably damaging	Het
Dock9	G	T	14: 121,823,676 (GRCm39)	A1412E	probably benign	Het
Dscam	C	T	16: 96,631,140 (GRCm39)	V292M	probably damaging	Het
Fras1	T	A	5: 96,830,237 (GRCm39)	V1509E	probably benign	Het
Fryl	T	C	5: 73,226,146 (GRCm39)	Q1839R	probably damaging	Het
Gcat	A	G	15: 78,919,566 (GRCm39)	D177G	probably damaging	Het
Gss	T	C	2: 155,409,732 (GRCm39)	T235A	possibly damaging	Het
Ints10	T	A	8: 69,250,450 (GRCm39)	M114K	probably damaging	Het
Ints5	T	G	19: 8,874,750 (GRCm39)	L903R	probably damaging	Het
Lipo2	G	T	19: 33,725,862 (GRCm39)	P130Q	possibly damaging	Het
Megf11	G	A	9: 64,587,591 (GRCm39)	C494Y	probably damaging	Het
Milr1	T	C	11: 106,654,747 (GRCm39)	Y162H	probably damaging	Het
Mrc2	T	A	11: 105,219,244 (GRCm39)	I278N	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Myh15	G	A	16: 48,889,766 (GRCm39)	C119Y	probably damaging	Het
Nap1l1	G	A	10: 111,330,669 (GRCm39)	G358D	probably damaging	Het
Nav3	T	C	10: 109,529,027 (GRCm39)	I2178V	possibly damaging	Het
Nkx2-5	T	C	17: 27,060,268 (GRCm39)	E21G	probably damaging	Het
Nos2	C	T	11: 78,848,332 (GRCm39)	R967C	probably benign	Het
Or6c215	T	C	10: 129,638,037 (GRCm39)	D119G	probably damaging	Het
Parp10	T	C	15: 76,127,306 (GRCm39)	R44G	probably damaging	Het
Pced1b	A	G	15: 97,282,222 (GRCm39)	H87R	probably damaging	Het
Ppfia3	T	A	7: 45,003,036 (GRCm39)	L524F	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,176 (GRCm39)	T376A	probably benign	Het
Ppp4r4	T	C	12: 103,557,111 (GRCm39)	L449P	probably damaging	Het
Prkd1	T	C	12: 50,472,320 (GRCm39)	R198G	probably damaging	Het
Pth2r	C	A	1: 65,427,638 (GRCm39)	A437E	probably benign	Het
Ptprh	A	T	7: 4,604,864 (GRCm39)	I60N	probably benign	Het
Scarb2	T	C	5: 92,633,168 (GRCm39)	K55E	probably benign	Het
Slc18b1	T	C	10: 23,680,132 (GRCm39)	V109A	possibly damaging	Het
Slx4ip	T	A	2: 136,842,130 (GRCm39)	D18E	probably damaging	Het
Stk40	A	G	4: 126,017,607 (GRCm39)	R45G	probably damaging	Het
Tbxas1	A	T	6: 39,061,240 (GRCm39)	Q513L	probably damaging	Het
Tcf4	A	T	18: 69,790,721 (GRCm39)		probably null	Het
Tmc6	T	A	11: 117,665,143 (GRCm39)	I377F	probably benign	Het
Tmem131l	T	C	3: 83,868,938 (GRCm39)	I146V	probably damaging	Het
Trac	T	A	14: 54,458,049 (GRCm39)		probably benign	Het
Trpm7	T	C	2: 126,679,334 (GRCm39)	D409G	probably damaging	Het
Usp39	A	T	6: 72,314,734 (GRCm39)	V224E	possibly damaging	Het
Vmn1r184	A	C	7: 25,966,727 (GRCm39)	M158L	probably benign	Het
Vmn2r120	T	A	17: 57,852,218 (GRCm39)	I33L	probably benign	Het

Other mutations in Pxmp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Pxmp2	APN	5	110,431,582 (GRCm39)	missense	probably benign	0.01
IGL02902:Pxmp2	APN	5	110,429,160 (GRCm39)	missense	probably benign
R1564:Pxmp2	UTSW	5	110,429,062 (GRCm39)	critical splice donor site	probably null
R4451:Pxmp2	UTSW	5	110,425,531 (GRCm39)	missense	probably damaging	0.99
R4908:Pxmp2	UTSW	5	110,431,518 (GRCm39)	missense	probably benign	0.19
R5580:Pxmp2	UTSW	5	110,431,542 (GRCm39)	missense	possibly damaging	0.46
R6615:Pxmp2	UTSW	5	110,425,573 (GRCm39)	missense	possibly damaging	0.67
R6788:Pxmp2	UTSW	5	110,429,185 (GRCm39)	missense	probably benign	0.00
R7217:Pxmp2	UTSW	5	110,433,771 (GRCm39)	missense	probably damaging	0.99
R8247:Pxmp2	UTSW	5	110,422,445 (GRCm39)	missense	probably damaging	1.00
R9295:Pxmp2	UTSW	5	110,433,944 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AATATCTGAGCTGCTTGGTCTGC -3'
(R):5'- AAAAGAGTGCACTAGCTGGC -3'

Sequencing Primer
(F):5'- TGCTTGGTCTGCAGACGC -3'
(R):5'- CAGAAAATGTCAGGCCGT -3'

Posted On

2018-10-18