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: 0.110)
|
| Stock # |
IGL01323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99055174-99058978 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99058636 bp (GRCm38)
|
| 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: 166,871,495 (GRCm38) |
D1272G |
probably damaging |
Het |
| Ascl2 |
A |
G |
7: 142,968,388 (GRCm38) |
S108P |
probably benign |
Het |
| B3gat1 |
T |
C |
9: 26,755,910 (GRCm38) |
V146A |
possibly damaging |
Het |
| Barhl1 |
C |
T |
2: 28,915,546 (GRCm38) |
S45N |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,622,925 (GRCm38) |
A2370V |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,609,260 (GRCm38) |
D67G |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,785,125 (GRCm38) |
T171A |
probably benign |
Het |
| Ccdc77 |
T |
C |
6: 120,334,796 (GRCm38) |
Q247R |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,647,642 (GRCm38) |
V100D |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,591,765 (GRCm38) |
T3A |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,884,815 (GRCm38) |
|
probably benign |
Het |
| Fga |
T |
C |
3: 83,030,211 (GRCm38) |
S132P |
probably damaging |
Het |
| Gm4070 |
A |
G |
7: 105,896,802 (GRCm38) |
S2348P |
possibly damaging |
Het |
| Gpr6 |
T |
A |
10: 41,071,559 (GRCm38) |
N9I |
possibly damaging |
Het |
| Hacd3 |
A |
G |
9: 64,998,305 (GRCm38) |
F184L |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,398,938 (GRCm38) |
I132T |
possibly damaging |
Het |
| Igfbp7 |
A |
G |
5: 77,352,037 (GRCm38) |
|
probably benign |
Het |
| Ighv8-6 |
T |
C |
12: 115,165,857 (GRCm38) |
D93G |
possibly damaging |
Het |
| Izumo3 |
A |
G |
4: 92,146,390 (GRCm38) |
|
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,825,338 (GRCm38) |
T347A |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,298,442 (GRCm38) |
T419A |
probably benign |
Het |
| Krt34 |
A |
G |
11: 100,038,780 (GRCm38) |
S267P |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,920,281 (GRCm38) |
K383Q |
probably damaging |
Het |
| Lgals7 |
G |
T |
7: 28,865,564 (GRCm38) |
E42D |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,137,319 (GRCm38) |
V493A |
possibly damaging |
Het |
| Mtif2 |
T |
A |
11: 29,541,447 (GRCm38) |
S557R |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,669,556 (GRCm38) |
F83I |
probably benign |
Het |
| Olfr107 |
G |
T |
17: 37,406,140 (GRCm38) |
M197I |
probably benign |
Het |
| Oosp2 |
A |
G |
19: 11,647,461 (GRCm38) |
L155S |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,966,799 (GRCm38) |
T1180S |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,042,724 (GRCm38) |
F79I |
possibly damaging |
Het |
| Purg |
A |
T |
8: 33,386,603 (GRCm38) |
I90L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 29,987,137 (GRCm38) |
Q305K |
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,216,543 (GRCm38) |
S816N |
probably benign |
Het |
| Src |
G |
A |
2: 157,469,503 (GRCm38) |
G461R |
probably damaging |
Het |
| Tmem201 |
G |
A |
4: 149,719,588 (GRCm38) |
|
probably benign |
Het |
| Tnfrsf22 |
G |
A |
7: 143,643,374 (GRCm38) |
P76L |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,138,563 (GRCm38) |
|
probably null |
Het |
| Upp1 |
A |
G |
11: 9,136,100 (GRCm38) |
*312W |
probably null |
Het |
| Wdfy3 |
G |
T |
5: 101,895,064 (GRCm38) |
S1940R |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,492,353 (GRCm38) |
Y804C |
probably damaging |
Het |
| Xrn2 |
C |
T |
2: 147,034,847 (GRCm38) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,524,464 (GRCm38) |
D1275E |
possibly damaging |
Het |
|
| Other mutations in Prph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Prph
|
APN |
15 |
99,058,593 (GRCm38) |
splice site |
probably benign |
|
|
IGL01868:Prph
|
APN |
15 |
99,056,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02714:Prph
|
APN |
15 |
99,056,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02816:Prph
|
APN |
15 |
99,057,420 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0242:Prph
|
UTSW |
15 |
99,055,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0396:Prph
|
UTSW |
15 |
99,056,991 (GRCm38) |
missense |
probably benign |
|
|
R0441:Prph
|
UTSW |
15 |
99,057,438 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2065:Prph
|
UTSW |
15 |
99,056,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2326:Prph
|
UTSW |
15 |
99,055,282 (GRCm38) |
unclassified |
probably benign |
|
|
R3115:Prph
|
UTSW |
15 |
99,055,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4441:Prph
|
UTSW |
15 |
99,057,124 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4794:Prph
|
UTSW |
15 |
99,057,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5058:Prph
|
UTSW |
15 |
99,055,232 (GRCm38) |
unclassified |
probably benign |
|
|
R5463:Prph
|
UTSW |
15 |
99,055,400 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6199:Prph
|
UTSW |
15 |
99,056,832 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6242:Prph
|
UTSW |
15 |
99,057,123 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6502:Prph
|
UTSW |
15 |
99,056,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7356:Prph
|
UTSW |
15 |
99,056,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7818:Prph
|
UTSW |
15 |
99,057,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8353:Prph
|
UTSW |
15 |
99,056,776 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8453:Prph
|
UTSW |
15 |
99,056,776 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9338:Prph
|
UTSW |
15 |
99,057,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Prph
|
UTSW |
15 |
99,056,380 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-10-07 |
Incidental Mutation