Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02357:Pmp22'

290588

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pmp22

Ensembl Gene

ENSMUSG00000018217

Gene Name

peripheral myelin protein 22

Synonyms

Gas-3

Accession Numbers

Ncbi RefSeq: NM_008885.2; MGI:97631

Is this an essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

63128982-63159547 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63158308 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 126 (V126F)

Ref Sequence

ENSEMBL: ENSMUSP00000104342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018361] [ENSMUST00000108700] [ENSMUST00000108701] [ENSMUST00000108702]

Predicted Effect

probably benign
Transcript: ENSMUST00000018361
AA Change: V126F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018361
Gene: ENSMUSG00000018217
AA Change: V126F

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	153	5.8e-50	PFAM
Pfam:Claudin_2	13	155	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108700
AA Change: V126F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104340
Gene: ENSMUSG00000018217
AA Change: V126F

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	153	5.8e-50	PFAM
Pfam:Claudin_2	13	155	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108701
AA Change: V126F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104341
Gene: ENSMUSG00000018217
AA Change: V126F

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	153	5.7e-50	PFAM
Pfam:Claudin_2	55	155	1.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108702
AA Change: V126F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104342
Gene: ENSMUSG00000018217
AA Change: V126F

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	153	5.8e-50	PFAM
Pfam:Claudin_2	13	155	1.1e-12	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 2447704; 3614822
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice with one or two copies of several mutations exhibit tremors, a tendency toward seizures, and partial paralysis associated with demyelination and loss of peripheral axons. Mutants have high juvenile mortality and males are often sterile. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted(4) Spontaneous(3) Chemically induced(4)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Ak8	A	T	2: 28,700,213	H8L	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Casp9	C	A	4: 141,805,472	D226E	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Plek	C	T	11: 16,981,846	R335H	probably damaging	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Slc22a22	A	G	15: 57,247,448	V461A	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,675,759	D245G	probably benign	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	possibly damaging	Het

Other mutations in Pmp22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01780:Pmp22	APN	11	63158308	missense	probably benign
IGL02350:Pmp22	APN	11	63158308	missense	probably benign
IGL02423:Pmp22	APN	11	63158292	missense	possibly damaging	0.94
IGL03107:Pmp22	APN	11	63158309	missense	probably benign
PIT4431001:Pmp22	UTSW	11	63151241	missense	probably benign	0.00
R0025:Pmp22	UTSW	11	63158250	critical splice acceptor site	probably null
R0025:Pmp22	UTSW	11	63158250	critical splice acceptor site	probably null
R0453:Pmp22	UTSW	11	63151103	intron	probably benign
R0561:Pmp22	UTSW	11	63134424	missense	probably damaging	1.00
R3858:Pmp22	UTSW	11	63134475	missense	probably benign	0.00
R5107:Pmp22	UTSW	11	63158411	missense	probably damaging	0.99
R6573:Pmp22	UTSW	11	63158273	missense	probably damaging	1.00
R6574:Pmp22	UTSW	11	63158273	missense	probably damaging	1.00
R6575:Pmp22	UTSW	11	63158273	missense	probably damaging	1.00
R7599:Pmp22	UTSW	11	63158348	missense	probably damaging	1.00

Posted On

2015-04-16