Incidental Mutation 'R5463:Prph'
ID |
433126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prph
|
Ensembl Gene |
ENSMUSG00000023484 |
Gene Name |
peripherin |
Synonyms |
Prph1 |
MMRRC Submission |
043025-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R5463 (G1)
|
Quality Score |
184 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
98953055-98956859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 98953281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 65
(G65D)
|
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 |
unknown
Transcript: ENSMUST00000024249
AA Change: G65D
|
SMART Domains |
Protein: ENSMUSP00000024249 Gene: ENSMUSG00000023484 AA Change: G65D
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: G65D
|
SMART Domains |
Protein: ENSMUSP00000049303 Gene: ENSMUSG00000023484 AA Change: G65D
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: G65D
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930009A15Rik |
A |
C |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
Arhgap29 |
T |
A |
3: 121,782,200 (GRCm39) |
S71T |
possibly damaging |
Het |
BC048507 |
T |
C |
13: 68,011,817 (GRCm39) |
Y65H |
probably damaging |
Het |
C3 |
T |
C |
17: 57,518,720 (GRCm39) |
E1221G |
probably benign |
Het |
Calb1 |
G |
T |
4: 15,885,656 (GRCm39) |
V76L |
probably benign |
Het |
Crybg1 |
T |
A |
10: 43,879,689 (GRCm39) |
K500* |
probably null |
Het |
Csmd1 |
G |
A |
8: 16,034,860 (GRCm39) |
T2437I |
probably benign |
Het |
Cyp27b1 |
G |
A |
10: 126,887,966 (GRCm39) |
V493I |
possibly damaging |
Het |
Cyp3a44 |
T |
A |
5: 145,740,554 (GRCm39) |
T29S |
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,298,328 (GRCm39) |
V624A |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,069,140 (GRCm39) |
I2464V |
probably benign |
Het |
Dock6 |
A |
T |
9: 21,721,254 (GRCm39) |
|
probably null |
Het |
Erap1 |
C |
T |
13: 74,794,533 (GRCm39) |
T64I |
probably damaging |
Het |
Erbb3 |
A |
T |
10: 128,405,948 (GRCm39) |
Y1156* |
probably null |
Het |
Fam168a |
G |
A |
7: 100,484,602 (GRCm39) |
A231T |
probably benign |
Het |
Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
Fbxo30 |
T |
C |
10: 11,166,813 (GRCm39) |
Y512H |
probably damaging |
Het |
Gcnt2 |
A |
T |
13: 41,071,650 (GRCm39) |
I98F |
possibly damaging |
Het |
Got1 |
G |
A |
19: 43,493,036 (GRCm39) |
T295I |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,844,010 (GRCm39) |
E3538G |
probably damaging |
Het |
Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Letmd1 |
C |
T |
15: 100,367,009 (GRCm39) |
A2V |
probably damaging |
Het |
Lynx1 |
G |
T |
15: 74,623,462 (GRCm39) |
Y28* |
probably null |
Het |
Mast1 |
T |
C |
8: 85,652,136 (GRCm39) |
E304G |
probably damaging |
Het |
Nipa1 |
G |
A |
7: 55,629,205 (GRCm39) |
Q303* |
probably null |
Het |
Nomo1 |
G |
A |
7: 45,712,426 (GRCm39) |
R657H |
possibly damaging |
Het |
Or51b4 |
C |
T |
7: 103,530,541 (GRCm39) |
R303H |
probably benign |
Het |
Pcdha7 |
T |
A |
18: 37,108,628 (GRCm39) |
L551Q |
probably damaging |
Het |
Pik3r4 |
T |
C |
9: 105,525,930 (GRCm39) |
Y267H |
probably damaging |
Het |
Pnliprp1 |
A |
G |
19: 58,723,168 (GRCm39) |
D223G |
probably damaging |
Het |
Pskh1 |
T |
C |
8: 106,639,464 (GRCm39) |
L48P |
probably benign |
Het |
Ptdss1 |
C |
A |
13: 67,093,365 (GRCm39) |
N68K |
probably damaging |
Het |
Rexo5 |
G |
A |
7: 119,433,526 (GRCm39) |
G495R |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,723,448 (GRCm39) |
A4204S |
possibly damaging |
Het |
Serpinb9 |
G |
A |
13: 33,199,659 (GRCm39) |
S318N |
probably damaging |
Het |
Slc22a8 |
G |
A |
19: 8,586,638 (GRCm39) |
R383H |
probably benign |
Het |
Trim26 |
A |
G |
17: 37,162,016 (GRCm39) |
H145R |
probably damaging |
Het |
Trps1 |
A |
T |
15: 50,695,286 (GRCm39) |
Y286* |
probably null |
Het |
Vmn1r181 |
A |
G |
7: 23,683,787 (GRCm39) |
N84S |
probably benign |
Het |
Wdfy4 |
G |
T |
14: 32,873,689 (GRCm39) |
Q207K |
probably benign |
Het |
Whrn |
G |
A |
4: 63,351,053 (GRCm39) |
T427I |
probably benign |
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 |
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 |
|
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'- ATTCTAGGCTCCAGCGTTG -3'
(R):5'- CGTTCTGCTGCTCCAAGAAG -3'
Sequencing Primer
(F):5'- ATGCATGCTCTAAGGTAGACC -3'
(R):5'- AAGCGCACCTTCTCGATG -3'
|
Posted On |
2016-10-06 |