Incidental Mutation 'IGL01323:Prph'
ID |
74114 |
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 # |
IGL01323
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
98953055-98956859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 98956517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 465
(S465N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024249
(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: S465N
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000024249 Gene: ENSMUSG00000023484 AA Change: S465N
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 |
probably benign
Transcript: ENSMUST00000047104
AA Change: S497N
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000049303 Gene: ENSMUSG00000023484 AA Change: S497N
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 benign
Transcript: ENSMUST00000230021
AA Change: S496N
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
Ascl2 |
A |
G |
7: 142,522,125 (GRCm39) |
S108P |
probably benign |
Het |
B3gat1 |
T |
C |
9: 26,667,206 (GRCm39) |
V146A |
possibly damaging |
Het |
Barhl1 |
C |
T |
2: 28,805,558 (GRCm39) |
S45N |
probably benign |
Het |
Birc6 |
C |
T |
17: 74,929,920 (GRCm39) |
A2370V |
probably damaging |
Het |
C1qtnf7 |
A |
G |
5: 43,766,602 (GRCm39) |
D67G |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,762,086 (GRCm39) |
T171A |
probably benign |
Het |
Ccdc77 |
T |
C |
6: 120,311,757 (GRCm39) |
Q247R |
probably benign |
Het |
Cenpp |
A |
T |
13: 49,801,118 (GRCm39) |
V100D |
probably damaging |
Het |
Cep135 |
A |
G |
5: 76,739,612 (GRCm39) |
T3A |
probably benign |
Het |
Eef2k |
T |
C |
7: 120,484,038 (GRCm39) |
|
probably benign |
Het |
Fga |
T |
C |
3: 82,937,518 (GRCm39) |
S132P |
probably damaging |
Het |
Gpr6 |
T |
A |
10: 40,947,555 (GRCm39) |
N9I |
possibly damaging |
Het |
Gvin2 |
A |
G |
7: 105,546,009 (GRCm39) |
S2348P |
possibly damaging |
Het |
Hacd3 |
A |
G |
9: 64,905,587 (GRCm39) |
F184L |
probably damaging |
Het |
Heatr1 |
T |
C |
13: 12,413,819 (GRCm39) |
I132T |
possibly damaging |
Het |
Igfbp7 |
A |
G |
5: 77,499,884 (GRCm39) |
|
probably benign |
Het |
Ighv8-6 |
T |
C |
12: 115,129,477 (GRCm39) |
D93G |
possibly damaging |
Het |
Izumo3 |
A |
G |
4: 92,034,627 (GRCm39) |
|
probably benign |
Het |
Jade2 |
T |
C |
11: 51,716,165 (GRCm39) |
T347A |
possibly damaging |
Het |
Kif18a |
A |
G |
2: 109,128,787 (GRCm39) |
T419A |
probably benign |
Het |
Krt34 |
A |
G |
11: 99,929,606 (GRCm39) |
S267P |
possibly damaging |
Het |
Krt4 |
T |
G |
15: 101,828,716 (GRCm39) |
K383Q |
probably damaging |
Het |
Lgals7 |
G |
T |
7: 28,564,989 (GRCm39) |
E42D |
probably benign |
Het |
Morc2b |
A |
G |
17: 33,356,293 (GRCm39) |
V493A |
possibly damaging |
Het |
Mtif2 |
T |
A |
11: 29,491,447 (GRCm39) |
S557R |
probably damaging |
Het |
Nup43 |
T |
A |
10: 7,545,320 (GRCm39) |
F83I |
probably benign |
Het |
Oosp2 |
A |
G |
19: 11,624,825 (GRCm39) |
L155S |
probably damaging |
Het |
Or1o1 |
G |
T |
17: 37,717,031 (GRCm39) |
M197I |
probably benign |
Het |
Plxnd1 |
T |
A |
6: 115,943,760 (GRCm39) |
T1180S |
possibly damaging |
Het |
Prpf39 |
T |
A |
12: 65,089,498 (GRCm39) |
F79I |
possibly damaging |
Het |
Purg |
A |
T |
8: 33,876,631 (GRCm39) |
I90L |
probably damaging |
Het |
Pxdn |
C |
A |
12: 30,037,136 (GRCm39) |
Q305K |
probably benign |
Het |
R3hdm1 |
G |
A |
1: 128,144,280 (GRCm39) |
S816N |
probably benign |
Het |
Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
Tmem201 |
G |
A |
4: 149,804,045 (GRCm39) |
|
probably benign |
Het |
Tnfrsf22 |
G |
A |
7: 143,197,111 (GRCm39) |
P76L |
probably damaging |
Het |
Triml1 |
T |
C |
8: 43,591,600 (GRCm39) |
|
probably null |
Het |
Upp1 |
A |
G |
11: 9,086,100 (GRCm39) |
*312W |
probably null |
Het |
Wdfy3 |
G |
T |
5: 102,042,930 (GRCm39) |
S1940R |
probably damaging |
Het |
Xpc |
T |
C |
6: 91,469,335 (GRCm39) |
Y804C |
probably damaging |
Het |
Xrn2 |
C |
T |
2: 146,876,767 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
A |
T |
2: 120,354,945 (GRCm39) |
D1275E |
possibly damaging |
Het |
|
Other mutations in Prph |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02816:Prph
|
APN |
15 |
98,955,301 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2013-10-07 |