Mutagenetix > Incidental Mutation

Incidental Mutation 'R5141:Pmp2'

396445

Institutional Source

Beutler Lab

Gene Symbol

Pmp2

Ensembl Gene

ENSMUSG00000052468

Gene Name

peripheral myelin protein 2

Synonyms

MMRRC Submission

042727-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10244911-10248945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10247474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 72 (D72N)

Ref Sequence

ENSEMBL: ENSMUSP00000029034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029034] [ENSMUST00000194885]

AlphaFold

P24526

Predicted Effect

probably benign
Transcript: ENSMUST00000029034
AA Change: D72N

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029034
Gene: ENSMUSG00000052468
AA Change: D72N

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	6	132	2.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194885

SMART Domains

Protein: ENSMUSP00000141340
Gene: ENSMUSG00000103124

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	16	94	8.7e-14	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (76/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,810,577 (GRCm39)	V193A	probably benign	Het
Adamts18	T	A	8: 114,501,902 (GRCm39)	T320S	probably damaging	Het
Adamtsl1	G	T	4: 86,075,087 (GRCm39)	M151I	possibly damaging	Het
Adgrv1	A	T	13: 81,419,037 (GRCm39)	V5986E	probably damaging	Het
Aifm3	A	G	16: 17,317,586 (GRCm39)	E69G	probably damaging	Het
Akap13	C	A	7: 75,259,362 (GRCm39)	T662K	probably benign	Het
Alms1	A	G	6: 85,598,414 (GRCm39)	D1080G	probably benign	Het
Als2	T	C	1: 59,209,611 (GRCm39)	E1457G	possibly damaging	Het
Apobec4	A	G	1: 152,631,964 (GRCm39)		probably benign	Het
Apoo-ps	C	T	13: 107,550,895 (GRCm39)		noncoding transcript	Het
Aspscr1	G	A	11: 120,580,003 (GRCm39)	V181I	probably benign	Het
Atrn	T	C	2: 130,841,050 (GRCm39)		probably benign	Het
C3	T	A	17: 57,526,570 (GRCm39)	I804F	probably damaging	Het
Cbfa2t3	C	T	8: 123,361,760 (GRCm39)	G421R	probably benign	Het
Chmp4c	A	G	3: 10,432,213 (GRCm39)	E41G	probably damaging	Het
Clk4	T	A	11: 51,166,598 (GRCm39)	F96L	possibly damaging	Het
Ctsg	G	A	14: 56,339,184 (GRCm39)	R25*	probably null	Het
Cul1	A	G	6: 47,497,773 (GRCm39)	D618G	probably benign	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dip2a	G	A	10: 76,106,287 (GRCm39)	T1326I	probably damaging	Het
Etnk2	A	G	1: 133,296,600 (GRCm39)	I210V	probably benign	Het
Gm5773	T	A	3: 93,681,034 (GRCm39)	D235E	probably benign	Het
Gm7353	T	C	7: 3,161,001 (GRCm39)		noncoding transcript	Het
Gpi1	G	A	7: 33,926,521 (GRCm39)		probably benign	Het
Ing4	T	C	6: 125,016,837 (GRCm39)	M5T	probably benign	Het
Inpp4a	A	G	1: 37,419,168 (GRCm39)	I583V	probably benign	Het
Isyna1	T	C	8: 71,047,543 (GRCm39)	V64A	probably damaging	Het
Katnal2	T	A	18: 77,085,337 (GRCm39)	D310V	probably damaging	Het
Kbtbd8	A	G	6: 95,098,820 (GRCm39)	T126A	probably damaging	Het
Kif13a	T	C	13: 46,906,197 (GRCm39)	D582G	probably benign	Het
Lmf2	G	A	15: 89,235,810 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,382,693 (GRCm39)		probably null	Het
Lrp4	T	C	2: 91,309,023 (GRCm39)		probably benign	Het
Lyzl1	A	C	18: 4,169,209 (GRCm39)	D71A	possibly damaging	Het
Mak	C	T	13: 41,186,039 (GRCm39)	C543Y	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,110 (GRCm39)	D404G	probably damaging	Het
Mdga1	C	T	17: 30,071,467 (GRCm39)	E385K	probably benign	Het
Mst1r	T	A	9: 107,789,440 (GRCm39)	I573N	probably damaging	Het
Muc5ac	T	A	7: 141,368,479 (GRCm39)	N2365K	possibly damaging	Het
Ncan	T	C	8: 70,565,487 (GRCm39)	E179G	probably damaging	Het
Nlgn2	C	T	11: 69,716,216 (GRCm39)	R775H	probably damaging	Het
Or10d5	T	G	9: 39,861,170 (GRCm39)	K299T	probably benign	Het
Or4c122	A	C	2: 89,079,473 (GRCm39)	Y176*	probably null	Het
Or8g20	A	G	9: 39,395,827 (GRCm39)	F238L	probably damaging	Het
Pcolce	G	T	5: 137,604,012 (GRCm39)	Q352K	probably benign	Het
Peg3	G	T	7: 6,712,381 (GRCm39)	T947N	probably benign	Het
Pld3	C	T	7: 27,233,220 (GRCm39)	D344N	probably damaging	Het
Plec	A	C	15: 76,074,733 (GRCm39)	D411E	probably damaging	Het
Ptpn9	T	C	9: 56,943,960 (GRCm39)	V278A	possibly damaging	Het
Rbm33	A	G	5: 28,557,687 (GRCm39)	H300R	probably damaging	Het
Rpgrip1l	T	C	8: 91,987,546 (GRCm39)	Q837R	probably benign	Het
Rwdd4a	T	C	8: 48,003,709 (GRCm39)		probably benign	Het
Sema6a	T	C	18: 47,381,455 (GRCm39)	T1048A	probably damaging	Het
Senp1	G	A	15: 97,974,488 (GRCm39)	A108V	probably benign	Het
Serpine2	G	T	1: 79,780,580 (GRCm39)	Q290K	possibly damaging	Het
Sesn1	A	G	10: 41,687,097 (GRCm39)	N27S	probably benign	Het
Shroom1	T	A	11: 53,354,809 (GRCm39)	L243*	probably null	Het
Slc17a5	A	G	9: 78,448,270 (GRCm39)	Y395H	probably damaging	Het
Slc5a8	T	C	10: 88,755,422 (GRCm39)		probably null	Het
Sptbn5	G	A	2: 119,892,212 (GRCm39)	S1083F	probably benign	Het
Stx4a	T	A	7: 127,445,787 (GRCm39)	V231E	probably damaging	Het
Swt1	A	T	1: 151,287,145 (GRCm39)	S116T	probably benign	Het
Syt9	C	T	7: 107,103,426 (GRCm39)	T408I	probably damaging	Het
Tgm7	T	C	2: 120,931,480 (GRCm39)	T228A	probably benign	Het
Tmem115	A	G	9: 107,415,141 (GRCm39)	D310G	probably benign	Het
Trcg1	G	A	9: 57,148,587 (GRCm39)	G53D	probably damaging	Het
Tsfm	T	C	10: 126,865,482 (GRCm39)	K100E	probably damaging	Het
Usp1	A	G	4: 98,822,446 (GRCm39)	T587A	probably damaging	Het
Vcpip1	G	T	1: 9,818,302 (GRCm39)	A27E	unknown	Het
Vmn2r49	T	C	7: 9,720,300 (GRCm39)	N397S	probably benign	Het
Vmn2r8	A	G	5: 108,956,572 (GRCm39)	S17P	probably damaging	Het
Vwa3b	A	G	1: 37,226,102 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,998,114 (GRCm39)	S1094T	probably benign	Het
Zbtb22	C	G	17: 34,137,610 (GRCm39)	S585C	possibly damaging	Het
Zhx2	A	G	15: 57,685,182 (GRCm39)	T184A	probably benign	Het

Other mutations in Pmp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Pmp2	APN	3	10,247,541 (GRCm39)	nonsense	probably null
IGL02367:Pmp2	APN	3	10,247,560 (GRCm39)	missense	probably damaging	1.00
IGL02479:Pmp2	APN	3	10,247,262 (GRCm39)	missense	probably benign	0.00
R0419:Pmp2	UTSW	3	10,245,823 (GRCm39)	missense	probably damaging	1.00
R1754:Pmp2	UTSW	3	10,247,284 (GRCm39)	critical splice acceptor site	probably null
R1943:Pmp2	UTSW	3	10,247,570 (GRCm39)	missense	probably benign	0.01
R5647:Pmp2	UTSW	3	10,248,845 (GRCm39)	missense	probably benign
R6749:Pmp2	UTSW	3	10,247,542 (GRCm39)	missense	probably benign	0.32
R8789:Pmp2	UTSW	3	10,247,564 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGACACGTTCACATGCTTGG -3'
(R):5'- GGCATCTGTCTCTTAGATATGCC -3'

Sequencing Primer
(F):5'- GCTTATCTCAGTTTCCATGACAGATG -3'
(R):5'- TTAGATATGCCTCCTTAACCAACC -3'

Posted On

2016-06-21