Incidental Mutation 'R4441:Prph'
| ID |
329784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prph
|
| Ensembl Gene |
ENSMUSG00000023484 |
| Gene Name |
peripherin |
| Synonyms |
Prph1 |
| MMRRC Submission |
041706-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R4441 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99055174-99058978 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99057124 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 325
(S325N)
|
| 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 |
probably damaging
Transcript: ENSMUST00000024249
AA Change: S325N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: S325N
| 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: S357N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: S357N
| 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: S357N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.1020 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (53/55) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,527,801 (GRCm38) |
R1238S |
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,888,661 (GRCm38) |
Y244N |
possibly damaging |
Het |
| Asxl3 |
C |
T |
18: 22,524,233 (GRCm38) |
P1767S |
probably damaging |
Het |
| C1qtnf7 |
A |
T |
5: 43,609,270 (GRCm38) |
K70N |
possibly damaging |
Het |
| Cibar1 |
A |
G |
4: 12,157,733 (GRCm38) |
M261T |
probably damaging |
Het |
| Fam78b |
C |
A |
1: 167,078,922 (GRCm38) |
Q217K |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,168,750 (GRCm38) |
T127A |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,196,163 (GRCm38) |
|
probably null |
Het |
| Gm12790 |
A |
C |
4: 101,968,140 (GRCm38) |
S26A |
probably damaging |
Het |
| Gm136 |
T |
C |
4: 34,755,911 (GRCm38) |
D34G |
probably benign |
Het |
| Gmds |
A |
G |
13: 31,940,478 (GRCm38) |
|
probably null |
Het |
| Hdac9 |
G |
T |
12: 34,389,376 (GRCm38) |
H401N |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,657,459 (GRCm38) |
I3026V |
probably null |
Het |
| Igkv6-20 |
A |
T |
6: 70,336,117 (GRCm38) |
M24K |
probably damaging |
Het |
| Ilf2 |
T |
C |
3: 90,487,462 (GRCm38) |
L339P |
probably benign |
Het |
| Insr |
T |
A |
8: 3,194,902 (GRCm38) |
K501N |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,635,383 (GRCm38) |
R546H |
probably damaging |
Het |
| Mcm5 |
T |
C |
8: 75,112,544 (GRCm38) |
S142P |
probably benign |
Het |
| Mcpt9 |
A |
G |
14: 56,027,552 (GRCm38) |
V164A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 27,051,645 (GRCm38) |
D415E |
possibly damaging |
Het |
| Nfia |
T |
C |
4: 97,772,913 (GRCm38) |
|
probably null |
Het |
| Nipbl |
G |
C |
15: 8,366,658 (GRCm38) |
Q144E |
probably damaging |
Het |
| Or51g1 |
A |
T |
7: 102,984,309 (GRCm38) |
V285E |
possibly damaging |
Het |
| Or51q1c |
T |
G |
7: 104,004,072 (GRCm38) |
F266V |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,474,925 (GRCm38) |
S272P |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,763,061 (GRCm38) |
I395V |
possibly damaging |
Het |
| Plcz1 |
T |
A |
6: 139,990,687 (GRCm38) |
L605F |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,392,725 (GRCm38) |
M131T |
probably benign |
Het |
| Rab3ip |
T |
G |
10: 116,915,932 (GRCm38) |
D278A |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 91,983,678 (GRCm38) |
D620G |
possibly damaging |
Het |
| Rbm5 |
A |
G |
9: 107,749,688 (GRCm38) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,414,514 (GRCm38) |
|
probably null |
Het |
| Saxo5 |
C |
T |
8: 3,476,105 (GRCm38) |
S86L |
probably damaging |
Het |
| Tbxa2r |
T |
C |
10: 81,333,091 (GRCm38) |
S205P |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,895,815 (GRCm38) |
N2375S |
probably benign |
Het |
| Tespa1 |
C |
T |
10: 130,361,957 (GRCm38) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,581,682 (GRCm38) |
E227G |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,564,097 (GRCm38) |
I266V |
possibly damaging |
Het |
| Tnn |
T |
G |
1: 160,116,080 (GRCm38) |
E1054D |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,108,934 (GRCm38) |
R281C |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 64,201,918 (GRCm38) |
D12G |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,775,442 (GRCm38) |
T427M |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,755,210 (GRCm38) |
Y585N |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,586,137 (GRCm38) |
N223K |
possibly damaging |
Het |
|
| Other mutations in Prph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Prph
|
APN |
15 |
99,058,636 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATCGCGGCAAAGAATCTG -3'
(R):5'- TGTCGAAGCTCTTCCTCCAG -3'
Sequencing Primer
(F):5'- GTGGTATAAGTCGAAAGTGCG -3'
(R):5'- GGCGAACTGCTCTTCCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation