Mutagenetix > Incidental Mutation

Incidental Mutation 'R1754:Pmp2'

193814

Institutional Source

Beutler Lab

Gene Symbol

Pmp2

Ensembl Gene

ENSMUSG00000052468

Gene Name

peripheral myelin protein 2

Synonyms

MMRRC Submission

039786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10179851-10183929 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 10182224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029034 (fasta)

Gene Model

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

AlphaFold

P24526

Predicted Effect

probably null
Transcript: ENSMUST00000029034

SMART Domains

Protein: ENSMUSP00000029034
Gene: ENSMUSG00000052468

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,321,031 (GRCm38)	V123A	probably damaging	Het
Abca2	T	A	2: 25,434,333 (GRCm38)	L234M	probably benign	Het
Abca3	G	A	17: 24,377,779 (GRCm38)	S402N	probably benign	Het
Acad12	A	T	5: 121,607,481 (GRCm38)	V249D	probably benign	Het
Acp4	T	C	7: 44,255,004 (GRCm38)	I212V	probably benign	Het
Actl6a	T	A	3: 32,718,574 (GRCm38)	V233D	probably damaging	Het
Aire	T	A	10: 78,030,290 (GRCm38)	Q533L	probably damaging	Het
Aldh3b3	T	C	19: 3,968,517 (GRCm38)	S411P	probably benign	Het
Amer2	A	G	14: 60,379,757 (GRCm38)	K467R	probably damaging	Het
Apol9b	A	T	15: 77,735,762 (GRCm38)	I253F	probably benign	Het
Arid1b	A	G	17: 5,279,201 (GRCm38)		probably null	Het
Atp6v0a4	T	C	6: 38,067,829 (GRCm38)	T494A	probably benign	Het
Atp6v1b2	A	G	8: 69,101,961 (GRCm38)	D106G	probably benign	Het
Avpr1b	T	C	1: 131,600,101 (GRCm38)	S121P	probably damaging	Het
Bcl11a	A	C	11: 24,164,724 (GRCm38)	E689A	probably damaging	Het
Brpf3	T	G	17: 28,821,323 (GRCm38)	L906R	probably benign	Het
Btn1a1	T	C	13: 23,460,468 (GRCm38)	K287E	probably benign	Het
Cacna1i	A	G	15: 80,371,529 (GRCm38)	H871R	probably damaging	Het
Cd14	A	T	18: 36,725,514 (GRCm38)	L296Q	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm38)		probably benign	Het
Colgalt1	G	T	8: 71,623,179 (GRCm38)	W490L	probably damaging	Het
Ctnna2	A	G	6: 77,636,749 (GRCm38)	I273T	possibly damaging	Het
Dnah7a	A	T	1: 53,504,185 (GRCm38)	D2275E	probably benign	Het
Dnah7a	A	C	1: 53,561,900 (GRCm38)		probably null	Het
Egfem1	T	C	3: 29,668,333 (GRCm38)	Y404H	possibly damaging	Het
Esm1	A	T	13: 113,216,696 (GRCm38)	N171Y	probably damaging	Het
Exoc1	T	G	5: 76,560,322 (GRCm38)		probably null	Het
Fcho1	A	G	8: 71,711,246 (GRCm38)	I580T	probably benign	Het
Fgfr1	A	G	8: 25,570,210 (GRCm38)	H552R	probably damaging	Het
Fsbp	A	G	4: 11,583,906 (GRCm38)	R202G	probably damaging	Het
Gabra6	A	G	11: 42,316,561 (GRCm38)	V231A	probably damaging	Het
Gm8765	A	T	13: 50,701,087 (GRCm38)	T254S	probably damaging	Het
Gmeb1	A	G	4: 132,232,027 (GRCm38)	S239P	probably benign	Het
Gnpat	T	A	8: 124,877,006 (GRCm38)	Y208N	probably damaging	Het
Il21	T	C	3: 37,225,525 (GRCm38)	K114R	possibly damaging	Het
Inhbc	T	C	10: 127,370,293 (GRCm38)	D35G	possibly damaging	Het
Inpp4b	A	T	8: 81,770,811 (GRCm38)	T87S	probably damaging	Het
Kcns2	T	C	15: 34,839,517 (GRCm38)	I342T	possibly damaging	Het
Ky	A	T	9: 102,541,927 (GRCm38)	T378S	possibly damaging	Het
Lcat	CAT	C	8: 105,941,814 (GRCm38)		probably null	Het
Lrrc8d	T	C	5: 105,812,657 (GRCm38)	V311A	probably benign	Het
Mief1	A	G	15: 80,249,602 (GRCm38)	I287V	probably damaging	Het
Mrpl47	A	G	3: 32,730,084 (GRCm38)	V179A	probably benign	Het
Mtcl1	T	C	17: 66,380,183 (GRCm38)	K576R	probably damaging	Het
Myh10	C	A	11: 68,813,058 (GRCm38)	A1902E	probably damaging	Het
Nlrp3	A	G	11: 59,558,402 (GRCm38)	T837A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,394 (GRCm38)	Y132H	probably damaging	Het
Oit3	T	C	10: 59,427,940 (GRCm38)		probably null	Het
Olfr1186	A	T	2: 88,525,815 (GRCm38)	R77S	probably damaging	Het
Olfr1467	T	C	19: 13,365,353 (GRCm38)	S242P	probably damaging	Het
Olfr193	T	A	16: 59,110,581 (GRCm38)	I10F	probably benign	Het
Olfr30	A	T	11: 58,455,262 (GRCm38)	M229K	probably damaging	Het
Olfr427	A	G	1: 174,100,033 (GRCm38)	T192A	probably benign	Het
Olfr533	A	T	7: 140,466,860 (GRCm38)	I220F	probably damaging	Het
Olfr8	T	A	10: 78,955,697 (GRCm38)	V164E	probably damaging	Het
Olfr825	G	A	10: 130,163,164 (GRCm38)	T54I	probably benign	Het
Pdlim4	T	C	11: 54,055,873 (GRCm38)	E196G	possibly damaging	Het
Pigs	A	G	11: 78,337,847 (GRCm38)	Y293C	probably damaging	Het
Pkd1l2	A	T	8: 117,030,719 (GRCm38)	S1527T	possibly damaging	Het
Pkd2l1	A	T	19: 44,155,601 (GRCm38)	Y344*	probably null	Het
Polr3e	T	C	7: 120,939,298 (GRCm38)		probably null	Het
Ppp3ca	C	G	3: 136,881,448 (GRCm38)	I230M	probably benign	Het
Ppp5c	T	C	7: 17,005,310 (GRCm38)	H463R	probably benign	Het
Ptger1	A	G	8: 83,669,297 (GRCm38)	N328D	probably benign	Het
Rhno1	A	T	6: 128,357,859 (GRCm38)	I167N	probably benign	Het
Rictor	C	A	15: 6,735,368 (GRCm38)	P34H	probably damaging	Het
Rnf10	A	C	5: 115,245,865 (GRCm38)	S630R	probably damaging	Het
Rnf168	A	G	16: 32,299,124 (GRCm38)	Q501R	probably benign	Het
Rngtt	T	G	4: 33,329,634 (GRCm38)		probably null	Het
Samd9l	G	T	6: 3,373,126 (GRCm38)	F1378L	probably damaging	Het
Slc9c1	T	A	16: 45,589,509 (GRCm38)	M864K	probably benign	Het
Slitrk5	T	C	14: 111,680,519 (GRCm38)	F525S	probably damaging	Het
Sox6	T	C	7: 115,477,055 (GRCm38)	M784V	probably benign	Het
Spint2	C	T	7: 29,260,366 (GRCm38)		probably null	Het
Ssh1	A	T	5: 113,955,845 (GRCm38)	I276N	probably damaging	Het
Trank1	T	A	9: 111,392,871 (GRCm38)	V2892D	probably benign	Het
Ttn	C	A	2: 76,751,040 (GRCm38)	E21424*	probably null	Het
Usp17lc	T	C	7: 103,418,848 (GRCm38)	I450T	probably benign	Het
Vcan	A	G	13: 89,704,735 (GRCm38)	V702A	probably benign	Het
Vmn1r36	TA	TAA	6: 66,716,533 (GRCm38)		probably null	Het
Vmn2r51	G	T	7: 10,099,946 (GRCm38)	D388E	probably benign	Het
Zfp106	A	C	2: 120,533,764 (GRCm38)	S721A	probably damaging	Het
Zfp106	G	A	2: 120,533,763 (GRCm38)	S721L	probably damaging	Het
Zfp189	T	A	4: 49,529,342 (GRCm38)	H148Q	possibly damaging	Het
Zfp352	A	T	4: 90,223,809 (GRCm38)	Y62F	probably benign	Het
Zfp839	T	C	12: 110,855,457 (GRCm38)	V235A	probably damaging	Het
Zfp871	T	C	17: 32,775,334 (GRCm38)	Y289C	probably damaging	Het

Other mutations in Pmp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Pmp2	APN	3	10,182,481 (GRCm38)	nonsense	probably null
IGL02367:Pmp2	APN	3	10,182,500 (GRCm38)	missense	probably damaging	1.00
IGL02479:Pmp2	APN	3	10,182,202 (GRCm38)	missense	probably benign	0.00
R0419:Pmp2	UTSW	3	10,180,763 (GRCm38)	missense	probably damaging	1.00
R1943:Pmp2	UTSW	3	10,182,510 (GRCm38)	missense	probably benign	0.01
R5141:Pmp2	UTSW	3	10,182,414 (GRCm38)	missense	probably benign	0.02
R5647:Pmp2	UTSW	3	10,183,785 (GRCm38)	missense	probably benign
R6749:Pmp2	UTSW	3	10,182,482 (GRCm38)	missense	probably benign	0.32
R8789:Pmp2	UTSW	3	10,182,504 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGGCACGCCAGGGTTATATTTTAC -3'
(R):5'- GCCAGGAGTTTGATGAAACCACAGC -3'

Sequencing Primer
(F):5'- TTGACCTAGCACACGTAGGAC -3'
(R):5'- GCTGACAACAGAAAAGCCAAG -3'

Posted On

2014-05-23