Incidental Mutation 'R3858:Pmp22'
ID |
276257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pmp22
|
Ensembl Gene |
ENSMUSG00000018217 |
Gene Name |
peripheral myelin protein 22 |
Synonyms |
TRE002, Gas-3 |
MMRRC Submission |
040786-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R3858 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
63019808-63050373 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63025301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 45
(S45P)
|
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: S45P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000018361 Gene: ENSMUSG00000018217 AA Change: S45P
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: S45P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104340 Gene: ENSMUSG00000018217 AA Change: S45P
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: S45P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104341 Gene: ENSMUSG00000018217 AA Change: S45P
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: S45P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104342 Gene: ENSMUSG00000018217 AA Change: S45P
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 |
noncoding transcript
Transcript: ENSMUST00000140648
|
Meta Mutation Damage Score |
0.0634 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
97% (36/37) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,863,581 (GRCm39) |
S179T |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
Ccdc82 |
G |
A |
9: 13,251,704 (GRCm39) |
|
probably benign |
Het |
Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
Cd2ap |
G |
A |
17: 43,127,463 (GRCm39) |
Q377* |
probably null |
Het |
Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
Efhb |
A |
G |
17: 53,769,808 (GRCm39) |
L167S |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
Irs4 |
T |
C |
X: 140,507,059 (GRCm39) |
E379G |
probably damaging |
Het |
Kcnmb2 |
T |
C |
3: 32,252,450 (GRCm39) |
V217A |
probably damaging |
Het |
Megf10 |
T |
C |
18: 57,408,907 (GRCm39) |
|
probably benign |
Het |
Mib1 |
T |
A |
18: 10,798,409 (GRCm39) |
C757S |
possibly damaging |
Het |
Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
Or12d13 |
A |
T |
17: 37,648,117 (GRCm39) |
L2* |
probably null |
Het |
Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
Pirb |
T |
C |
7: 3,720,662 (GRCm39) |
K279E |
possibly damaging |
Het |
Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
Reck |
A |
G |
4: 43,930,261 (GRCm39) |
T612A |
probably benign |
Het |
Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
Sis |
A |
G |
3: 72,835,985 (GRCm39) |
I868T |
probably damaging |
Het |
Slc23a3 |
A |
G |
1: 75,106,040 (GRCm39) |
|
probably null |
Het |
Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
Tor3a |
T |
A |
1: 156,497,124 (GRCm39) |
L140F |
probably damaging |
Het |
Vcf2 |
T |
C |
X: 149,203,357 (GRCm39) |
Q39R |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,291,594 (GRCm39) |
M57T |
probably benign |
Het |
Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTTGCTGATCTCACTGG -3'
(R):5'- ACTCCCTCATGAGACAGCTG -3'
Sequencing Primer
(F):5'- TGATCTCACTGGGCAGGAG -3'
(R):5'- GGATATCTGACTCTGTGACACAGTC -3'
|
Posted On |
2015-04-06 |