Incidental Mutation 'R6573:Pmp22'
| ID |
523318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmp22
|
| Ensembl Gene |
ENSMUSG00000018217 |
| Gene Name |
peripheral myelin protein 22 |
| Synonyms |
TRE002, Gas-3 |
| MMRRC Submission |
044697-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R6573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
63019808-63050373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63049099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 114
(A114V)
|
| 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 damaging
Transcript: ENSMUST00000018361
AA Change: A114V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018361
Gene: ENSMUSG00000018217
AA Change: A114V
| 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 damaging
Transcript: ENSMUST00000108700
AA Change: A114V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104340
Gene: ENSMUSG00000018217
AA Change: A114V
| 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 damaging
Transcript: ENSMUST00000108701
AA Change: A114V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104341
Gene: ENSMUSG00000018217
AA Change: A114V
| 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 damaging
Transcript: ENSMUST00000108702
AA Change: A114V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104342
Gene: ENSMUSG00000018217
AA Change: A114V
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam5 |
A |
G |
7: 17,447,372 (GRCm39) |
M1V |
probably null |
Het |
| Clstn1 |
A |
G |
4: 149,728,146 (GRCm39) |
T605A |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,061,180 (GRCm39) |
M239V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,838 (GRCm39) |
R1929W |
probably damaging |
Het |
| Edf1 |
G |
T |
2: 25,451,875 (GRCm39) |
R133L |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,971,461 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Fbxo34 |
A |
T |
14: 47,767,124 (GRCm39) |
L212F |
possibly damaging |
Het |
| Flacc1 |
A |
G |
1: 58,706,003 (GRCm39) |
F289L |
probably benign |
Het |
| Gas2l3 |
C |
A |
10: 89,258,072 (GRCm39) |
|
probably null |
Het |
| Gfod1 |
C |
T |
13: 43,353,841 (GRCm39) |
S378N |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,536 (GRCm39) |
S288P |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,283 (GRCm39) |
T72S |
probably benign |
Het |
| Hyal5 |
T |
C |
6: 24,891,551 (GRCm39) |
V455A |
probably damaging |
Het |
| Megf9 |
A |
T |
4: 70,406,409 (GRCm39) |
C252* |
probably null |
Het |
| Mrgprg |
T |
C |
7: 143,318,333 (GRCm39) |
K260E |
possibly damaging |
Het |
| Nmi |
T |
A |
2: 51,840,081 (GRCm39) |
K220M |
possibly damaging |
Het |
| Nutm1 |
A |
C |
2: 112,081,388 (GRCm39) |
|
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,670 (GRCm39) |
D89E |
probably benign |
Het |
| Or8k16 |
C |
T |
2: 85,520,343 (GRCm39) |
S190L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Perm1 |
C |
A |
4: 156,303,130 (GRCm39) |
A558D |
probably damaging |
Het |
| Pgpep1 |
A |
G |
8: 71,103,265 (GRCm39) |
I203T |
probably benign |
Het |
| Prune2 |
G |
T |
19: 17,098,521 (GRCm39) |
G1342C |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,522 (GRCm39) |
G1342V |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,106 (GRCm39) |
I512F |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,400,110 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,137,094 (GRCm39) |
R107G |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,205,008 (GRCm39) |
Q598* |
probably null |
Het |
| Spata6 |
T |
A |
4: 111,636,476 (GRCm39) |
F256I |
probably damaging |
Het |
| Tnnt1 |
C |
A |
7: 4,517,333 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,027,647 (GRCm39) |
E413K |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,487 (GRCm39) |
F214L |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,996 (GRCm39) |
C636Y |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,037,703 (GRCm39) |
N917S |
probably damaging |
Het |
| Zfp317 |
T |
C |
9: 19,556,550 (GRCm39) |
S53P |
probably 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGCTGGACCCTCAGAG -3'
(R):5'- TATGCGCGCTCAGAGCCTA -3'
Sequencing Primer
(F):5'- CTCAGAGAGGGGCGTTGG -3'
(R):5'- TCAGAGCCTAGACGGACG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation