Incidental Mutation 'IGL02350:Pmp22'
ID |
289741 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pmp22
|
Ensembl Gene |
ENSMUSG00000018217 |
Gene Name |
peripheral myelin protein 22 |
Synonyms |
TRE002, Gas-3 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
IGL02350
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
63019808-63050373 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 63049134 bp (GRCm39)
|
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]
|
AlphaFold |
no structure available at present |
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 |
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 |
Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
Adamts16 |
T |
A |
13: 70,886,704 (GRCm39) |
T1029S |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,418,974 (GRCm39) |
C6007F |
probably benign |
Het |
Ak8 |
A |
T |
2: 28,590,225 (GRCm39) |
H8L |
probably benign |
Het |
Apol7b |
A |
G |
15: 77,307,832 (GRCm39) |
V221A |
probably benign |
Het |
BC005624 |
G |
A |
2: 30,863,779 (GRCm39) |
P235S |
probably benign |
Het |
Cd96 |
A |
G |
16: 45,890,139 (GRCm39) |
|
probably benign |
Het |
Celf1 |
A |
T |
2: 90,828,933 (GRCm39) |
K27I |
probably damaging |
Het |
Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
Cyp3a59 |
T |
C |
5: 146,016,152 (GRCm39) |
L3P |
probably damaging |
Het |
Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
Dph3b-ps |
A |
G |
13: 106,683,453 (GRCm39) |
|
noncoding transcript |
Het |
Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,237,067 (GRCm39) |
N645K |
possibly damaging |
Het |
Fes |
T |
C |
7: 80,033,578 (GRCm39) |
|
probably null |
Het |
Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
Gm5145 |
A |
T |
17: 20,790,702 (GRCm39) |
I27F |
probably damaging |
Het |
Hecw1 |
A |
G |
13: 14,422,923 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
G |
4: 119,980,222 (GRCm39) |
C1753W |
probably damaging |
Het |
Hook2 |
C |
T |
8: 85,721,614 (GRCm39) |
Q291* |
probably null |
Het |
Jakmip2 |
T |
C |
18: 43,680,192 (GRCm39) |
T722A |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
Ngdn |
T |
A |
14: 55,259,393 (GRCm39) |
V179E |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
Or10am5 |
T |
A |
7: 6,518,225 (GRCm39) |
M68L |
probably damaging |
Het |
Or2b7 |
A |
G |
13: 21,739,772 (GRCm39) |
L140P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
Plcb3 |
A |
C |
19: 6,935,546 (GRCm39) |
L789R |
probably damaging |
Het |
Plek |
C |
T |
11: 16,931,846 (GRCm39) |
R335H |
probably damaging |
Het |
Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
Rusc2 |
T |
G |
4: 43,425,351 (GRCm39) |
V1152G |
possibly damaging |
Het |
Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
Slc22a22 |
A |
G |
15: 57,110,844 (GRCm39) |
V461A |
probably benign |
Het |
Slc35e4 |
C |
T |
11: 3,862,640 (GRCm39) |
R183Q |
probably benign |
Het |
Spen |
T |
C |
4: 141,204,890 (GRCm39) |
T1246A |
unknown |
Het |
Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,539,963 (GRCm39) |
V34341A |
probably benign |
Het |
Vxn |
T |
C |
1: 9,683,544 (GRCm39) |
I44T |
possibly damaging |
Het |
Wwox |
T |
C |
8: 115,438,882 (GRCm39) |
V316A |
possibly damaging |
Het |
|
Other mutations in Pmp22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01780:Pmp22
|
APN |
11 |
63,049,134 (GRCm39) |
missense |
probably benign |
|
IGL02357:Pmp22
|
APN |
11 |
63,049,134 (GRCm39) |
missense |
probably benign |
|
IGL02423:Pmp22
|
APN |
11 |
63,049,118 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03107:Pmp22
|
APN |
11 |
63,049,135 (GRCm39) |
missense |
probably benign |
|
PIT4431001:Pmp22
|
UTSW |
11 |
63,042,067 (GRCm39) |
missense |
probably benign |
0.00 |
R0025:Pmp22
|
UTSW |
11 |
63,049,076 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0025:Pmp22
|
UTSW |
11 |
63,049,076 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0453:Pmp22
|
UTSW |
11 |
63,041,929 (GRCm39) |
intron |
probably benign |
|
R0561:Pmp22
|
UTSW |
11 |
63,025,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R3858:Pmp22
|
UTSW |
11 |
63,025,301 (GRCm39) |
missense |
probably benign |
0.00 |
R5107:Pmp22
|
UTSW |
11 |
63,049,237 (GRCm39) |
missense |
probably damaging |
0.99 |
R6573:Pmp22
|
UTSW |
11 |
63,049,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R6574:Pmp22
|
UTSW |
11 |
63,049,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R6575:Pmp22
|
UTSW |
11 |
63,049,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Pmp22
|
UTSW |
11 |
63,025,339 (GRCm39) |
splice site |
probably null |
|
R7599:Pmp22
|
UTSW |
11 |
63,049,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R8008:Pmp22
|
UTSW |
11 |
63,049,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R8424:Pmp22
|
UTSW |
11 |
63,023,902 (GRCm39) |
intron |
probably benign |
|
R8506:Pmp22
|
UTSW |
11 |
63,049,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R8812:Pmp22
|
UTSW |
11 |
63,049,239 (GRCm39) |
makesense |
probably null |
|
R9187:Pmp22
|
UTSW |
11 |
63,025,317 (GRCm39) |
missense |
probably benign |
0.02 |
R9187:Pmp22
|
UTSW |
11 |
63,025,268 (GRCm39) |
missense |
probably benign |
0.01 |
R9610:Pmp22
|
UTSW |
11 |
63,024,065 (GRCm39) |
missense |
probably benign |
0.13 |
R9611:Pmp22
|
UTSW |
11 |
63,024,065 (GRCm39) |
missense |
probably benign |
0.13 |
R9612:Pmp22
|
UTSW |
11 |
63,024,065 (GRCm39) |
missense |
probably benign |
0.13 |
|
Posted On |
2015-04-16 |