Incidental Mutation 'IGL01780:Pmp22'
| ID |
154167 |
| 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: 0.274)
|
| Stock # |
IGL01780
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,357,939 (GRCm39) |
N648D |
probably benign |
Het |
| BC024139 |
C |
A |
15: 76,005,343 (GRCm39) |
L506F |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,474 (GRCm39) |
L1221P |
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 |
| Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,755,175 (GRCm39) |
M867V |
probably benign |
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 |
| Gmds |
A |
T |
13: 32,409,145 (GRCm39) |
Y106* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,355 (GRCm39) |
T118A |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,667,507 (GRCm39) |
T344I |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,539 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,316,528 (GRCm39) |
V2151G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
| Mrgpra6 |
T |
C |
7: 46,838,497 (GRCm39) |
T234A |
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 |
| Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
| Or8w1 |
T |
C |
2: 87,465,424 (GRCm39) |
I222M |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,952,327 (GRCm39) |
S468R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,575 (GRCm39) |
S509P |
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 |
| Rasgrp1 |
A |
G |
2: 117,115,359 (GRCm39) |
L743P |
probably benign |
Het |
| Rpusd4 |
G |
A |
9: 35,179,720 (GRCm39) |
R71Q |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,313,977 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,725 (GRCm39) |
T280A |
possibly damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
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 |
| Tenm2 |
A |
G |
11: 35,937,768 (GRCm39) |
M1635T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,255 (GRCm39) |
T242A |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,508,136 (GRCm39) |
V736A |
probably damaging |
Het |
|
| Other mutations in Pmp22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02350: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 |
2014-02-04 |
Incidental Mutation