Incidental Mutation 'IGL01446:Rpe65'
| ID |
84441 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01446
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 159306042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029824]
[ENSMUST00000196999]
[ENSMUST00000197771]
|
| AlphaFold |
Q91ZQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029824
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196999
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197771
|
| SMART Domains |
Protein: ENSMUSP00000143390
Gene: ENSMUSG00000028174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
13 |
109 |
5.8e-19 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Acaca |
A |
G |
11: 84,151,457 (GRCm39) |
K785R |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,377,677 (GRCm39) |
V401M |
probably damaging |
Het |
| Aff4 |
G |
T |
11: 53,306,296 (GRCm39) |
R1146L |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,673,683 (GRCm39) |
P3562T |
probably damaging |
Het |
| Arsj |
A |
G |
3: 126,232,463 (GRCm39) |
E403G |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,212,723 (GRCm39) |
V431I |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,735,560 (GRCm39) |
M904K |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,943,300 (GRCm39) |
T775S |
probably benign |
Het |
| Dennd1b |
G |
A |
1: 138,950,848 (GRCm39) |
E30K |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,815 (GRCm39) |
D2008G |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,392,672 (GRCm39) |
V460A |
probably damaging |
Het |
| Ell2 |
G |
T |
13: 75,910,110 (GRCm39) |
L285F |
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,314,529 (GRCm39) |
F218L |
probably benign |
Het |
| Fzd9 |
T |
C |
5: 135,279,420 (GRCm39) |
E155G |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,362,837 (GRCm39) |
W212R |
probably damaging |
Het |
| Gulp1 |
A |
G |
1: 44,783,708 (GRCm39) |
|
probably benign |
Het |
| Hdgfl2 |
C |
T |
17: 56,404,281 (GRCm39) |
R332C |
possibly damaging |
Het |
| Lratd1 |
A |
T |
12: 14,199,929 (GRCm39) |
I266N |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,018,530 (GRCm39) |
|
probably benign |
Het |
| Or4c12 |
A |
G |
2: 89,774,282 (GRCm39) |
F59S |
probably damaging |
Het |
| Or5a3 |
T |
C |
19: 12,400,165 (GRCm39) |
I164T |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,616 (GRCm39) |
T237I |
probably benign |
Het |
| Phf11b |
A |
C |
14: 59,578,740 (GRCm39) |
S9A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,295,407 (GRCm39) |
S854P |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,315 (GRCm39) |
D1963N |
probably damaging |
Het |
| Sdccag8 |
T |
C |
1: 176,672,811 (GRCm39) |
S235P |
probably damaging |
Het |
| Sgip1 |
G |
T |
4: 102,786,110 (GRCm39) |
|
probably null |
Het |
| Skint5 |
G |
A |
4: 113,800,019 (GRCm39) |
P36L |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,502,490 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,174,479 (GRCm39) |
C669* |
probably null |
Het |
| Svil |
A |
T |
18: 5,062,385 (GRCm39) |
T902S |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,088,149 (GRCm39) |
S4989P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,640,283 (GRCm39) |
T13775M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,165,351 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
C |
T |
7: 45,858,380 (GRCm39) |
R636H |
possibly damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,651 (GRCm39) |
R315S |
probably benign |
Het |
| Vmn1r236 |
T |
A |
17: 21,506,918 (GRCm39) |
V12D |
probably benign |
Het |
| Wsb2 |
T |
G |
5: 117,509,229 (GRCm39) |
I170S |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly 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 |
|
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 |
|
I1329:Rpe65
|
UTSW |
3 |
159,330,360 (GRCm39) |
missense |
probably benign |
0.35 |
|
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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation