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: 0.110)
|
| Stock # |
R5463 (G1)
|
| Quality Score |
184 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99055174-99058978 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99055400 bp (GRCm38)
|
| 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: 115,570,199 |
|
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,988,551 |
S71T |
possibly damaging |
Het |
| BC048507 |
T |
C |
13: 67,863,698 |
Y65H |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,211,720 |
E1221G |
probably benign |
Het |
| Calb1 |
G |
T |
4: 15,885,656 |
V76L |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 44,003,693 |
K500* |
probably null |
Het |
| Csmd1 |
G |
A |
8: 15,984,860 |
T2437I |
probably benign |
Het |
| Cyp27b1 |
G |
A |
10: 127,052,097 |
V493I |
possibly damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,803,744 |
T29S |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,469,260 |
V624A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,092,157 |
I2464V |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,809,958 |
|
probably null |
Het |
| Erap1 |
C |
T |
13: 74,646,414 |
T64I |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,570,079 |
Y1156* |
probably null |
Het |
| Fam168a |
G |
A |
7: 100,835,395 |
A231T |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,235,077 |
P208L |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,291,069 |
Y512H |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 40,918,174 |
I98F |
possibly damaging |
Het |
| Got1 |
G |
A |
19: 43,504,597 |
T295I |
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,194,262 |
E3538G |
probably damaging |
Het |
| Kcnmb4 |
A |
T |
10: 116,473,505 |
V6E |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,852,109 |
|
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,469,128 |
A2V |
probably damaging |
Het |
| Lynx1 |
G |
T |
15: 74,751,613 |
Y28* |
probably null |
Het |
| Mast1 |
T |
C |
8: 84,925,507 |
E304G |
probably damaging |
Het |
| Nipa1 |
G |
A |
7: 55,979,457 |
Q303* |
probably null |
Het |
| Nomo1 |
G |
A |
7: 46,063,002 |
R657H |
possibly damaging |
Het |
| Olfr66 |
C |
T |
7: 103,881,334 |
R303H |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 36,975,575 |
L551Q |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,648,731 |
Y267H |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,734,736 |
D223G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 105,912,832 |
L48P |
probably benign |
Het |
| Ptdss1 |
C |
A |
13: 66,945,301 |
N68K |
probably damaging |
Het |
| Rexo5 |
G |
A |
7: 119,834,303 |
G495R |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 29,024,023 |
A4204S |
possibly damaging |
Het |
| Serpinb9 |
G |
A |
13: 33,015,676 |
S318N |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,609,274 |
R383H |
probably benign |
Het |
| Trim26 |
A |
G |
17: 36,851,124 |
H145R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,831,890 |
Y286* |
probably null |
Het |
| Vmn1r181 |
A |
G |
7: 23,984,362 |
N84S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 33,151,732 |
Q207K |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,432,816 |
T427I |
probably benign |
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 |
|
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 |
|
|
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'- ATTCTAGGCTCCAGCGTTG -3'
(R):5'- CGTTCTGCTGCTCCAAGAAG -3'
Sequencing Primer
(F):5'- ATGCATGCTCTAAGGTAGACC -3'
(R):5'- AAGCGCACCTTCTCGATG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation