Incidental Mutation 'R6574:Pmp22'
| ID |
523360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmp22
|
| Ensembl Gene |
ENSMUSG00000018217 |
| Gene Name |
peripheral myelin protein 22 |
| Synonyms |
TRE002, Gas-3 |
| MMRRC Submission |
044698-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R6574 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 95.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
C |
3: 146,356,613 (GRCm39) |
D98E |
probably benign |
Het |
| Ackr3 |
T |
C |
1: 90,141,790 (GRCm39) |
I83T |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,994,411 (GRCm39) |
M5232L |
probably benign |
Het |
| Ano1 |
A |
C |
7: 144,161,653 (GRCm39) |
|
probably null |
Het |
| Arap1 |
T |
A |
7: 101,053,208 (GRCm39) |
I532N |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,991,153 (GRCm39) |
V1533A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,875,885 (GRCm39) |
S329G |
possibly damaging |
Het |
| Ccno |
T |
A |
13: 113,124,719 (GRCm39) |
D96E |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Degs1 |
T |
C |
1: 182,106,638 (GRCm39) |
Y207C |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,495,693 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,059,107 (GRCm39) |
A63T |
probably benign |
Het |
| Eif4e1b |
T |
C |
13: 54,932,711 (GRCm39) |
F100S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,460,596 (GRCm39) |
Y722* |
probably null |
Het |
| Etfa |
A |
T |
9: 55,402,910 (GRCm39) |
I96N |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,516,199 (GRCm39) |
T101A |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,781,268 (GRCm39) |
I381T |
probably benign |
Het |
| Gria2 |
A |
G |
3: 80,596,603 (GRCm39) |
V821A |
probably damaging |
Het |
| Gss |
G |
T |
2: 155,423,931 (GRCm39) |
T51K |
probably damaging |
Het |
| Igkv13-84 |
C |
A |
6: 68,916,977 (GRCm39) |
Y91* |
probably null |
Het |
| Iqcb1 |
A |
T |
16: 36,691,863 (GRCm39) |
Q487H |
probably damaging |
Het |
| Itga8 |
G |
A |
2: 12,234,972 (GRCm39) |
H429Y |
probably benign |
Het |
| Myo1c |
T |
G |
11: 75,547,124 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,129,394 (GRCm39) |
|
probably null |
Het |
| Pcdhga5 |
T |
C |
18: 37,828,434 (GRCm39) |
L294P |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,558,134 (GRCm39) |
L271P |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,549,654 (GRCm39) |
D290G |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,533 (GRCm39) |
D425G |
probably benign |
Het |
| Ppp2r3d |
G |
A |
9: 101,071,584 (GRCm39) |
P678L |
probably benign |
Het |
| Ptbp2 |
T |
G |
3: 119,541,596 (GRCm39) |
Q147P |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,724,692 (GRCm39) |
S15P |
possibly damaging |
Het |
| Slc25a10 |
T |
C |
11: 120,387,903 (GRCm39) |
F199L |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,705,197 (GRCm39) |
N801S |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,994,020 (GRCm39) |
Y183H |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,063,086 (GRCm39) |
D520G |
possibly damaging |
Het |
| Trgc3 |
G |
T |
13: 19,445,293 (GRCm39) |
R80S |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,752,360 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,473,331 (GRCm39) |
P803L |
probably benign |
Het |
| Ubash3a |
A |
T |
17: 31,451,370 (GRCm39) |
Q423L |
probably damaging |
Het |
| Ucp1 |
G |
A |
8: 84,020,718 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
T |
17: 18,476,421 (GRCm39) |
N425K |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,181,452 (GRCm39) |
M418V |
probably null |
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 |
|
R6573: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'- TGTGCTGGACCCTCAGAGAG -3'
(R):5'- TATGCGCGCTCAGAGCCTA -3'
Sequencing Primer
(F):5'- CTCAGAGAGGGGCGTTGG -3'
(R):5'- TCAGAGCCTAGACGGACG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation