Incidental Mutation 'IGL02711:Rpe65'
| ID |
304554 |
| 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 # |
IGL02711
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 159328514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 441
(H441N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029824]
[ENSMUST00000196999]
|
| AlphaFold |
Q91ZQ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029824
AA Change: H441N
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: H441N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196999
AA Change: H441N
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: H441N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
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 |
|---|
| Abcb1a |
A |
T |
5: 8,773,245 (GRCm39) |
|
probably null |
Het |
| Adamts10 |
T |
A |
17: 33,757,246 (GRCm39) |
M400K |
probably damaging |
Het |
| Adamts17 |
G |
A |
7: 66,701,788 (GRCm39) |
|
probably benign |
Het |
| Adh5 |
A |
G |
3: 138,160,434 (GRCm39) |
K323E |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,118,255 (GRCm39) |
W10R |
probably benign |
Het |
| Arhgap15 |
T |
C |
2: 44,006,674 (GRCm39) |
F264L |
possibly damaging |
Het |
| Atp6v1g3 |
T |
A |
1: 138,211,419 (GRCm39) |
L33Q |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,747,849 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,943,341 (GRCm39) |
F611S |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,405,862 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Cep76 |
A |
T |
18: 67,771,406 (GRCm39) |
S75R |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,251,676 (GRCm39) |
|
probably benign |
Het |
| Dbf4 |
G |
T |
5: 8,458,235 (GRCm39) |
A199E |
probably benign |
Het |
| Gldc |
C |
T |
19: 30,122,546 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
G |
A |
2: 3,503,557 (GRCm39) |
A117V |
probably benign |
Het |
| Igkv4-80 |
G |
A |
6: 68,993,801 (GRCm39) |
P30L |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,356,551 (GRCm39) |
W292R |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,226,401 (GRCm39) |
S982T |
probably damaging |
Het |
| Klhdc7b |
A |
T |
15: 89,272,246 (GRCm39) |
K1043* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,735,820 (GRCm39) |
|
probably benign |
Het |
| Krt86 |
T |
C |
15: 101,371,543 (GRCm39) |
Y38H |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,310,700 (GRCm39) |
I546T |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,980,515 (GRCm39) |
S222P |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,570,025 (GRCm39) |
V178A |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,531,359 (GRCm39) |
V191A |
probably benign |
Het |
| Msh3 |
T |
C |
13: 92,487,819 (GRCm39) |
T133A |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,390,673 (GRCm39) |
D12G |
probably damaging |
Het |
| Nox4 |
T |
C |
7: 87,046,076 (GRCm39) |
Y572H |
probably damaging |
Het |
| Nqo1 |
A |
T |
8: 108,119,563 (GRCm39) |
L30Q |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,261,083 (GRCm39) |
V30E |
probably damaging |
Het |
| Oxr1 |
A |
G |
15: 41,517,067 (GRCm39) |
|
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,377 (GRCm39) |
D1100G |
probably benign |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,779 (GRCm39) |
D285A |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,572,322 (GRCm39) |
N569S |
unknown |
Het |
| Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
| Ripor3 |
T |
G |
2: 167,848,200 (GRCm39) |
|
probably benign |
Het |
| St14 |
A |
G |
9: 31,001,196 (GRCm39) |
V845A |
probably benign |
Het |
| Tmem116 |
T |
A |
5: 121,625,804 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,119,532 (GRCm39) |
D147E |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,560,466 (GRCm39) |
G27566* |
probably null |
Het |
| Zscan18 |
G |
T |
7: 12,509,044 (GRCm39) |
|
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation