Incidental Mutation 'IGL02714:Prph'
| ID |
304688 |
| 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 # |
IGL02714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98953055-98956859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98954747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 271
(D271G)
|
| 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 |
probably damaging
Transcript: ENSMUST00000024249
AA Change: D271G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: D271G
| 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 damaging
Transcript: ENSMUST00000047104
AA Change: D271G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: D271G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament_head
|
19 |
99 |
3.2e-18 |
PFAM |
|
Filament
|
100 |
442 |
1.87e-135 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229268
AA Change: D46G
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230021
AA Change: D271G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
T |
A |
7: 19,492,732 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,290 (GRCm39) |
D59G |
possibly damaging |
Het |
| Ckmt2 |
A |
G |
13: 92,006,427 (GRCm39) |
M306T |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,220,542 (GRCm39) |
E744G |
probably damaging |
Het |
| Gpr139 |
T |
A |
7: 118,744,342 (GRCm39) |
D81V |
possibly damaging |
Het |
| Lsg1 |
T |
C |
16: 30,404,368 (GRCm39) |
|
probably null |
Het |
| Ly9 |
A |
G |
1: 171,432,686 (GRCm39) |
V109A |
possibly damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,346,867 (GRCm39) |
S1806T |
probably benign |
Het |
| Met |
T |
A |
6: 17,491,851 (GRCm39) |
Y204* |
probably null |
Het |
| Or8b35 |
T |
A |
9: 37,904,382 (GRCm39) |
I198N |
possibly damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,568 (GRCm39) |
S798P |
possibly damaging |
Het |
| Ppp2r5b |
C |
T |
19: 6,284,737 (GRCm39) |
R42H |
probably damaging |
Het |
| Prg2 |
T |
A |
2: 84,813,849 (GRCm39) |
I220N |
probably damaging |
Het |
| Rassf9 |
T |
A |
10: 102,348,424 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,594,458 (GRCm39) |
Y157H |
possibly damaging |
Het |
| Tacstd2 |
A |
T |
6: 67,512,053 (GRCm39) |
I213N |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,511,506 (GRCm39) |
L248P |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,260 (GRCm39) |
I1268N |
probably damaging |
Het |
| Zp1 |
C |
T |
19: 10,895,976 (GRCm39) |
G220D |
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 |
|
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 |
2015-04-16 |
Incidental Mutation