Incidental Mutation 'IGL02816:Prph'
ID |
360801 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prph
|
Ensembl Gene |
ENSMUSG00000023484 |
Gene Name |
peripherin |
Synonyms |
Prph1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL02816
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
98953055-98956859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98955301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 423
(M423V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155294
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024249]
[ENSMUST00000047104]
[ENSMUST00000229268]
[ENSMUST00000230021]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024249
AA Change: M391V
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000024249 Gene: ENSMUSG00000023484 AA Change: M391V
Domain | Start | End | E-Value | Type |
Pfam:Filament_head
|
19 |
99 |
2.7e-18 |
PFAM |
Pfam:Filament
|
100 |
410 |
4.5e-112 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047104
AA Change: M423V
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049303 Gene: ENSMUSG00000023484 AA Change: M423V
Domain | Start | End | E-Value | Type |
Pfam:Filament_head
|
19 |
99 |
3.2e-18 |
PFAM |
Filament
|
100 |
442 |
1.87e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229268
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230021
AA Change: M423V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
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 a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice showed no overt phenotype up to 14 months of age. While overall structure, number, and caliber of large myelinated axons was normal, mice had reduced numbers of a small subset of unmelinated sensory axons. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Caskin1 |
C |
A |
17: 24,721,144 (GRCm39) |
P495T |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,298,087 (GRCm39) |
C41R |
probably damaging |
Het |
Etfdh |
G |
A |
3: 79,530,112 (GRCm39) |
T52M |
probably damaging |
Het |
Fam227a |
T |
C |
15: 79,510,497 (GRCm39) |
T386A |
possibly damaging |
Het |
Gabrr3 |
T |
C |
16: 59,260,830 (GRCm39) |
|
probably benign |
Het |
Krt25 |
G |
T |
11: 99,208,977 (GRCm39) |
D284E |
probably benign |
Het |
Map1b |
T |
C |
13: 99,578,263 (GRCm39) |
D130G |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,446,608 (GRCm39) |
F785I |
probably benign |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Numa1 |
T |
A |
7: 101,645,307 (GRCm39) |
I311N |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,813,489 (GRCm39) |
C4010R |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,333,052 (GRCm39) |
|
probably benign |
Het |
Ribc2 |
T |
G |
15: 85,017,106 (GRCm39) |
V48G |
probably damaging |
Het |
Scyl1 |
A |
T |
19: 5,820,410 (GRCm39) |
N141K |
probably damaging |
Het |
Sec23a |
T |
A |
12: 59,025,331 (GRCm39) |
M497L |
probably benign |
Het |
Strada |
C |
T |
11: 106,055,251 (GRCm39) |
|
probably benign |
Het |
Tas2r144 |
A |
T |
6: 42,192,539 (GRCm39) |
Y93F |
probably benign |
Het |
Tmem94 |
T |
A |
11: 115,679,530 (GRCm39) |
|
probably null |
Het |
Trpc3 |
A |
G |
3: 36,705,851 (GRCm39) |
F448S |
probably damaging |
Het |
Ttc13 |
A |
G |
8: 125,439,415 (GRCm39) |
I113T |
possibly damaging |
Het |
Ttc27 |
T |
A |
17: 75,054,769 (GRCm39) |
|
probably benign |
Het |
Ttll13 |
G |
T |
7: 79,902,842 (GRCm39) |
C170F |
possibly damaging |
Het |
Yes1 |
C |
T |
5: 32,802,451 (GRCm39) |
T122M |
probably damaging |
Het |
|
Other mutations in Prph |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01323:Prph
|
APN |
15 |
98,956,517 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01472:Prph
|
APN |
15 |
98,956,474 (GRCm39) |
splice site |
probably benign |
|
IGL01868:Prph
|
APN |
15 |
98,954,224 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02714:Prph
|
APN |
15 |
98,954,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Prph
|
UTSW |
15 |
98,953,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R0396:Prph
|
UTSW |
15 |
98,954,872 (GRCm39) |
missense |
probably benign |
|
R0441:Prph
|
UTSW |
15 |
98,955,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R2065:Prph
|
UTSW |
15 |
98,954,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R2326:Prph
|
UTSW |
15 |
98,953,163 (GRCm39) |
unclassified |
probably benign |
|
R3115:Prph
|
UTSW |
15 |
98,953,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R4441:Prph
|
UTSW |
15 |
98,955,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R4794:Prph
|
UTSW |
15 |
98,955,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R5058:Prph
|
UTSW |
15 |
98,953,113 (GRCm39) |
unclassified |
probably benign |
|
R5463:Prph
|
UTSW |
15 |
98,953,281 (GRCm39) |
missense |
probably benign |
0.43 |
R6199:Prph
|
UTSW |
15 |
98,954,713 (GRCm39) |
missense |
probably benign |
0.33 |
R6242:Prph
|
UTSW |
15 |
98,955,004 (GRCm39) |
missense |
probably damaging |
0.99 |
R6502:Prph
|
UTSW |
15 |
98,954,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R7356:Prph
|
UTSW |
15 |
98,954,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R7818:Prph
|
UTSW |
15 |
98,955,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Prph
|
UTSW |
15 |
98,954,657 (GRCm39) |
missense |
probably benign |
0.02 |
R8453:Prph
|
UTSW |
15 |
98,954,657 (GRCm39) |
missense |
probably benign |
0.02 |
R9338:Prph
|
UTSW |
15 |
98,955,359 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Prph
|
UTSW |
15 |
98,954,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2015-12-18 |