Incidental Mutation 'R2326:Prph'
| ID |
323526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prph
|
| Ensembl Gene |
ENSMUSG00000023484 |
| Gene Name |
peripherin |
| Synonyms |
Prph1 |
| MMRRC Submission |
040317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R2326 (G1)
|
| Quality Score |
55 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
98953055-98956859 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to G
at 98953163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024249]
[ENSMUST00000047104]
[ENSMUST00000229268]
[ENSMUST00000230021]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000024249
AA Change: R26G
|
| SMART Domains |
Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: R26G
| 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 |
unknown
Transcript: ENSMUST00000047104
AA Change: R26G
|
| SMART Domains |
Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: R26G
| 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 |
unknown
Transcript: ENSMUST00000230021
AA Change: R26G
|
| Meta Mutation Damage Score |
0.4348 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (31/31) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,350,537 (GRCm39) |
V198A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
| Dazap1 |
T |
A |
10: 80,120,067 (GRCm39) |
M234K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,643,800 (GRCm39) |
Y38H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
| Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
| Flrt3 |
C |
A |
2: 140,503,311 (GRCm39) |
V106F |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
| Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
| Haspin |
A |
G |
11: 73,026,911 (GRCm39) |
I726T |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
G |
7: 46,342,235 (GRCm39) |
F403L |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,939 (GRCm39) |
T97N |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATCTCAGCCAGCAACAAG -3'
(R):5'- TCGGCCATGGAGAAATCGAG -3'
Sequencing Primer
(F):5'- GCTGAAGTCAGGCCAGTG -3'
(R):5'- TGGAGAAATCGAGGCGCTCC -3'
|
| Posted On |
2015-06-22 |
Incidental Mutation