Incidental Mutation 'I1329:Rpe65'
| ID |
26489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpe65
|
| Ensembl Gene |
ENSMUSG00000028174 |
| Gene Name |
retinal pigment epithelium 65 |
| Synonyms |
rd12, Mord1, A930029L06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
I1329 (G1)
of strain
toku
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 159330360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 509
(D509G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029824]
[ENSMUST00000196999]
|
| AlphaFold |
Q91ZQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029824
AA Change: D509G
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: D509G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196999
AA Change: D509G
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: D509G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.2%
|
| Validation Efficiency |
89% (42/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit disorganized outer segment discs, reduced rod function, lack of rhodopsin and lipofuscin flurophores, and over-accumulation of all-trans-retinyl esters in the retinal pigment epithelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,863,631 (GRCm39) |
I28T |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 110,335,652 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
G |
C |
11: 120,592,066 (GRCm39) |
V268L |
probably damaging |
Het |
| Btbd10 |
A |
G |
7: 112,932,082 (GRCm39) |
S115P |
probably benign |
Het |
| Cercam |
T |
A |
2: 29,761,097 (GRCm39) |
V132E |
probably damaging |
Het |
| Decr1 |
G |
A |
4: 15,930,976 (GRCm39) |
R119* |
probably null |
Het |
| Dlst |
T |
C |
12: 85,170,615 (GRCm39) |
M248T |
probably damaging |
Het |
| Erbb3 |
T |
C |
10: 128,419,323 (GRCm39) |
N215S |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,451,414 (GRCm39) |
V1543M |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,944,619 (GRCm39) |
S542P |
probably benign |
Het |
| Gk5 |
GCC |
GC |
9: 96,022,682 (GRCm39) |
|
probably null |
Het |
| Glrb |
T |
A |
3: 80,769,381 (GRCm39) |
R115S |
probably damaging |
Het |
| Gm5592 |
T |
A |
7: 40,935,778 (GRCm39) |
Y93* |
probably null |
Het |
| Gpr20 |
C |
T |
15: 73,567,612 (GRCm39) |
R259H |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,511,600 (GRCm39) |
T215A |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,217,277 (GRCm39) |
C275R |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,588,566 (GRCm39) |
N1061S |
probably benign |
Het |
| Nkain3 |
A |
G |
4: 20,158,329 (GRCm39) |
|
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,224 (GRCm39) |
|
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,051,585 (GRCm39) |
Q142R |
probably benign |
Het |
| Otog |
G |
A |
7: 45,895,927 (GRCm39) |
V131I |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,064,505 (GRCm39) |
M627K |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,123,645 (GRCm39) |
S842P |
probably benign |
Het |
| Phc2 |
G |
C |
4: 128,604,906 (GRCm39) |
G214A |
probably damaging |
Het |
| Prpf40a |
C |
A |
2: 53,066,407 (GRCm39) |
V92L |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
| Scin |
T |
A |
12: 40,123,329 (GRCm39) |
N518I |
probably damaging |
Het |
| Sfswap |
G |
T |
5: 129,584,201 (GRCm39) |
|
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,274,460 (GRCm39) |
N182K |
possibly damaging |
Het |
| Tph1 |
A |
G |
7: 46,299,437 (GRCm39) |
L368P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,571,916 (GRCm39) |
T26326A |
possibly damaging |
Het |
| Ubr1 |
G |
A |
2: 120,764,775 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
G |
T |
16: 44,040,893 (GRCm39) |
C1791F |
probably damaging |
Het |
| Vmn1r16 |
T |
G |
6: 57,300,519 (GRCm39) |
R34S |
probably damaging |
Het |
| Ylpm1 |
C |
A |
12: 85,087,654 (GRCm39) |
P1604Q |
probably damaging |
Het |
| Zc3h12a |
A |
G |
4: 125,013,157 (GRCm39) |
V569A |
possibly damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,670,145 (GRCm39) |
F488S |
probably damaging |
Het |
|
| Other mutations in Rpe65 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Rpe65
|
APN |
3 |
159,320,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01446:Rpe65
|
APN |
3 |
159,306,042 (GRCm39) |
splice site |
probably benign |
|
|
IGL01815:Rpe65
|
APN |
3 |
159,310,167 (GRCm39) |
splice site |
probably null |
|
|
IGL02085:Rpe65
|
APN |
3 |
159,321,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02232:Rpe65
|
APN |
3 |
159,309,988 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02248:Rpe65
|
APN |
3 |
159,330,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Rpe65
|
APN |
3 |
159,312,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02711:Rpe65
|
APN |
3 |
159,328,514 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02982:Rpe65
|
APN |
3 |
159,305,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03280:Rpe65
|
APN |
3 |
159,309,978 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03350:Rpe65
|
APN |
3 |
159,320,154 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03356:Rpe65
|
APN |
3 |
159,321,214 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0571:Rpe65
|
UTSW |
3 |
159,305,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0905:Rpe65
|
UTSW |
3 |
159,307,220 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1024:Rpe65
|
UTSW |
3 |
159,312,122 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1597:Rpe65
|
UTSW |
3 |
159,320,421 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1657:Rpe65
|
UTSW |
3 |
159,320,085 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1778:Rpe65
|
UTSW |
3 |
159,328,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Rpe65
|
UTSW |
3 |
159,321,307 (GRCm39) |
missense |
probably benign |
|
|
R2259:Rpe65
|
UTSW |
3 |
159,321,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3012:Rpe65
|
UTSW |
3 |
159,310,200 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3923:Rpe65
|
UTSW |
3 |
159,310,037 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3975:Rpe65
|
UTSW |
3 |
159,310,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4204:Rpe65
|
UTSW |
3 |
159,310,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4825:Rpe65
|
UTSW |
3 |
159,330,318 (GRCm39) |
missense |
probably benign |
|
|
R4924:Rpe65
|
UTSW |
3 |
159,328,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5269:Rpe65
|
UTSW |
3 |
159,309,984 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5324:Rpe65
|
UTSW |
3 |
159,310,041 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5441:Rpe65
|
UTSW |
3 |
159,310,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Rpe65
|
UTSW |
3 |
159,321,313 (GRCm39) |
missense |
probably benign |
|
|
R5907:Rpe65
|
UTSW |
3 |
159,321,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6149:Rpe65
|
UTSW |
3 |
159,319,780 (GRCm39) |
missense |
probably benign |
|
|
R6660:Rpe65
|
UTSW |
3 |
159,320,345 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6830:Rpe65
|
UTSW |
3 |
159,319,805 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7025:Rpe65
|
UTSW |
3 |
159,328,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Rpe65
|
UTSW |
3 |
159,321,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Rpe65
|
UTSW |
3 |
159,328,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7366:Rpe65
|
UTSW |
3 |
159,330,366 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7537:Rpe65
|
UTSW |
3 |
159,310,246 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7679:Rpe65
|
UTSW |
3 |
159,310,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8044:Rpe65
|
UTSW |
3 |
159,320,342 (GRCm39) |
missense |
probably benign |
|
|
R8179:Rpe65
|
UTSW |
3 |
159,330,336 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8409:Rpe65
|
UTSW |
3 |
159,319,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8558:Rpe65
|
UTSW |
3 |
159,320,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Rpe65
|
UTSW |
3 |
159,321,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Rpe65
|
UTSW |
3 |
159,328,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTAGTCCAGGAAGAAAGGGTTTA -3'
(R):5'- GGTTTTGCCATTAGAAACATGTCTTGCT -3'
Sequencing Primer
(F):5'- ttggaggcagaggcagg -3'
(R):5'- gcaatgtgtgtgtagagatgaaag -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation