Incidental Mutation 'IGL03280:Rpe65'
| ID |
415552 |
| 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 # |
IGL03280
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 159309978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 84
(I84F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029824]
[ENSMUST00000196999]
[ENSMUST00000197771]
|
| AlphaFold |
Q91ZQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029824
AA Change: I84F
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: I84F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196999
AA Change: I84F
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: I84F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
silent
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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb4 |
T |
C |
6: 5,423,416 (GRCm39) |
S188P |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,497,315 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
G |
T |
8: 120,040,873 (GRCm39) |
G693W |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 110,036,498 (GRCm39) |
Y559* |
probably null |
Het |
| Cemip |
G |
A |
7: 83,636,538 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,273,415 (GRCm39) |
|
probably benign |
Het |
| Crygf |
A |
G |
1: 65,967,329 (GRCm39) |
Y151C |
probably damaging |
Het |
| Dcp1b |
T |
C |
6: 119,157,019 (GRCm39) |
|
probably benign |
Het |
| Fanca |
A |
G |
8: 124,043,198 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
A |
C |
4: 62,221,504 (GRCm39) |
|
probably benign |
Het |
| Gabrp |
C |
T |
11: 33,502,616 (GRCm39) |
R416Q |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,282,099 (GRCm39) |
S530G |
possibly damaging |
Het |
| Impg2 |
T |
A |
16: 56,088,631 (GRCm39) |
Y1052* |
probably null |
Het |
| Isg15 |
T |
C |
4: 156,284,319 (GRCm39) |
M70V |
probably benign |
Het |
| Krit1 |
T |
A |
5: 3,861,248 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,504,146 (GRCm39) |
D57G |
probably damaging |
Het |
| Macrod1 |
A |
G |
19: 7,174,937 (GRCm39) |
E309G |
possibly damaging |
Het |
| Notch1 |
A |
T |
2: 26,367,886 (GRCm39) |
|
probably benign |
Het |
| Nptx1 |
T |
C |
11: 119,435,555 (GRCm39) |
T254A |
probably damaging |
Het |
| Or12e9 |
A |
T |
2: 87,202,467 (GRCm39) |
D197V |
probably damaging |
Het |
| Pigm |
A |
G |
1: 172,204,420 (GRCm39) |
Y52C |
probably damaging |
Het |
| Pramel27 |
A |
T |
4: 143,578,489 (GRCm39) |
T250S |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,002,611 (GRCm39) |
T2022A |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,022,076 (GRCm39) |
L646Q |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,319,744 (GRCm39) |
|
probably benign |
Het |
| Selenop |
T |
C |
15: 3,310,104 (GRCm39) |
|
probably benign |
Het |
| Siglecf |
T |
G |
7: 43,005,354 (GRCm39) |
V438G |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,581,499 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,096,862 (GRCm39) |
F43S |
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,980,851 (GRCm39) |
Y216C |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,331,154 (GRCm39) |
V10E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,728,811 (GRCm39) |
C1234* |
probably null |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Usp24 |
T |
G |
4: 106,237,627 (GRCm39) |
I1095R |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,304,897 (GRCm39) |
H377Y |
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 |
|
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 |
2016-08-02 |
Incidental Mutation