Incidental Mutation 'R3120:Prph2'
| ID |
263198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prph2
|
| Ensembl Gene |
ENSMUSG00000023978 |
| Gene Name |
peripherin 2 |
| Synonyms |
Tspan22, Rd2, Nmf193, rds |
| MMRRC Submission |
040593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3120 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
47221404-47235859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 47234298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 289
(A289V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024773]
[ENSMUST00000113337]
|
| AlphaFold |
P15499 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024773
AA Change: A289V
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000024773
Gene: ENSMUSG00000023978
AA Change: A289V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
16 |
288 |
2.2e-28 |
PFAM |
|
low complexity region
|
333 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113337
|
| SMART Domains |
Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_UBR1
|
97 |
167 |
3.14e-32 |
SMART |
|
Pfam:ClpS
|
222 |
301 |
6.2e-26 |
PFAM |
|
low complexity region
|
635 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
886 |
N/A |
INTRINSIC |
|
coiled coil region
|
1019 |
1046 |
N/A |
INTRINSIC |
|
RING
|
1108 |
1213 |
7.66e-1 |
SMART |
|
low complexity region
|
1221 |
1235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162469
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsx |
A |
G |
9: 40,788,908 (GRCm39) |
K155R |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,891,987 (GRCm39) |
K162E |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,988,779 (GRCm39) |
R3351* |
probably null |
Het |
| Eml1 |
A |
G |
12: 108,479,312 (GRCm39) |
R362G |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,044,742 (GRCm39) |
L101P |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,430,400 (GRCm39) |
E276G |
probably damaging |
Het |
| Gatad1 |
G |
T |
5: 3,691,456 (GRCm39) |
Y33* |
probably null |
Het |
| Gclc |
A |
C |
9: 77,688,552 (GRCm39) |
E219A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,319,117 (GRCm39) |
V207A |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,215 (GRCm39) |
S170R |
probably benign |
Het |
| Hbq1a |
T |
C |
11: 32,250,472 (GRCm39) |
L87P |
probably damaging |
Het |
| Magea6 |
A |
T |
X: 153,707,291 (GRCm39) |
I255N |
probably benign |
Het |
| Mfsd12 |
T |
G |
10: 81,197,049 (GRCm39) |
V206G |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,203,762 (GRCm39) |
|
probably null |
Het |
| Nf1 |
C |
A |
11: 79,455,725 (GRCm39) |
T550K |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,342,530 (GRCm39) |
T372A |
probably benign |
Het |
| Or5p70 |
T |
C |
7: 107,994,930 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,466 (GRCm39) |
Y215H |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,537,367 (GRCm39) |
T253A |
probably benign |
Het |
| Polr2f |
T |
A |
15: 79,028,788 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
C |
T |
7: 140,732,132 (GRCm39) |
H140Y |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,006,680 (GRCm39) |
I877L |
probably benign |
Het |
| Scgb2b2 |
T |
C |
7: 31,003,001 (GRCm39) |
L32S |
possibly damaging |
Het |
| Sfpq |
T |
A |
4: 126,915,926 (GRCm39) |
H239Q |
unknown |
Het |
| St6gal2 |
A |
T |
17: 55,789,111 (GRCm39) |
R48S |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,536,355 (GRCm39) |
D657G |
possibly damaging |
Het |
| Syt15 |
A |
G |
14: 33,944,950 (GRCm39) |
I166V |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,478 (GRCm39) |
T24K |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,499,474 (GRCm39) |
S1093P |
probably damaging |
Het |
| Tfap2c |
G |
A |
2: 172,399,015 (GRCm39) |
V396M |
possibly damaging |
Het |
| Tnxb |
C |
T |
17: 34,911,329 (GRCm39) |
T1544I |
possibly damaging |
Het |
| Trim28 |
A |
G |
7: 12,762,341 (GRCm39) |
T322A |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,707,626 (GRCm39) |
A121V |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,372,431 (GRCm39) |
W20R |
probably null |
Het |
| Zfp551 |
A |
G |
7: 12,149,943 (GRCm39) |
F489L |
possibly damaging |
Het |
|
| Other mutations in Prph2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Prph2
|
APN |
17 |
47,230,704 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01087:Prph2
|
APN |
17 |
47,222,085 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4480001:Prph2
|
UTSW |
17 |
47,222,039 (GRCm39) |
frame shift |
probably null |
|
|
R0025:Prph2
|
UTSW |
17 |
47,230,697 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2235:Prph2
|
UTSW |
17 |
47,222,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3954:Prph2
|
UTSW |
17 |
47,221,644 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4864:Prph2
|
UTSW |
17 |
47,221,848 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4972:Prph2
|
UTSW |
17 |
47,221,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5645:Prph2
|
UTSW |
17 |
47,221,593 (GRCm39) |
start gained |
probably benign |
|
|
R5687:Prph2
|
UTSW |
17 |
47,234,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6494:Prph2
|
UTSW |
17 |
47,222,007 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6658:Prph2
|
UTSW |
17 |
47,230,790 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7775:Prph2
|
UTSW |
17 |
47,221,732 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7778:Prph2
|
UTSW |
17 |
47,221,732 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7824:Prph2
|
UTSW |
17 |
47,221,732 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8098:Prph2
|
UTSW |
17 |
47,230,892 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9221:Prph2
|
UTSW |
17 |
47,230,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9703:Prph2
|
UTSW |
17 |
47,234,447 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATGGGTCGCAATGTGAC -3'
(R):5'- CTTTCAGCTGGACAAAGGGG -3'
Sequencing Primer
(F):5'- GTCGCAATGTGACCATCTGC -3'
(R):5'- CCCTGGAGTCCACTAAGTGTTGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation