Incidental Mutation 'IGL02645:Rpe65'
| ID |
301918 |
| 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: 0.184)
|
| Stock # |
IGL02645
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 159312128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 209
(I209N)
|
| 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: I209N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: I209N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196999
AA Change: I209N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: I209N
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang4 |
T |
C |
14: 52,001,804 (GRCm39) |
Y48C |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,373,883 (GRCm39) |
M848K |
probably damaging |
Het |
| Apol7c |
A |
T |
15: 77,413,083 (GRCm39) |
S56T |
probably benign |
Het |
| Asic4 |
G |
A |
1: 75,449,998 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
G |
2: 153,234,777 (GRCm39) |
K162R |
possibly damaging |
Het |
| Car12 |
T |
A |
9: 66,654,961 (GRCm39) |
H130Q |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,111,646 (GRCm39) |
E737G |
probably damaging |
Het |
| Ccdc141 |
G |
A |
2: 76,905,211 (GRCm39) |
R412* |
probably null |
Het |
| Cd36 |
T |
C |
5: 17,990,878 (GRCm39) |
T421A |
probably benign |
Het |
| Clasp2 |
T |
G |
9: 113,719,129 (GRCm39) |
M758R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Ebf4 |
A |
G |
2: 130,203,761 (GRCm39) |
K471E |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,173,654 (GRCm39) |
D2353V |
probably damaging |
Het |
| Gm10136 |
A |
G |
19: 28,981,140 (GRCm39) |
|
probably benign |
Het |
| Intu |
A |
G |
3: 40,655,702 (GRCm39) |
I930V |
probably benign |
Het |
| Ndrg2 |
T |
A |
14: 52,143,979 (GRCm39) |
M300L |
possibly damaging |
Het |
| Nhs |
A |
G |
X: 160,942,054 (GRCm39) |
S111P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,844,755 (GRCm39) |
L111F |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,818,947 (GRCm39) |
|
probably null |
Het |
| Or10g1b |
T |
A |
14: 52,627,958 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or12e13 |
C |
T |
2: 87,663,959 (GRCm39) |
T192M |
probably benign |
Het |
| Or4a76 |
T |
C |
2: 89,460,679 (GRCm39) |
T188A |
probably benign |
Het |
| Or4c116 |
T |
C |
2: 88,941,963 (GRCm39) |
R298G |
probably benign |
Het |
| Pcdhac2 |
G |
A |
18: 37,278,292 (GRCm39) |
G424D |
probably damaging |
Het |
| Pex3 |
T |
G |
10: 13,422,173 (GRCm39) |
E42D |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,943,311 (GRCm39) |
|
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,330,273 (GRCm39) |
F240L |
probably benign |
Het |
| Rttn |
A |
T |
18: 89,128,810 (GRCm39) |
I1921F |
probably benign |
Het |
| Scn3a |
A |
T |
2: 65,344,871 (GRCm39) |
F539Y |
probably benign |
Het |
| Secisbp2 |
T |
A |
13: 51,836,496 (GRCm39) |
M767K |
probably damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,028,405 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,894,380 (GRCm39) |
N753S |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,080 (GRCm39) |
V28A |
probably damaging |
Het |
| Sympk |
T |
G |
7: 18,786,349 (GRCm39) |
V984G |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,943 (GRCm39) |
D272V |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,477,047 (GRCm39) |
R167G |
probably benign |
Het |
| Tnpo3 |
G |
T |
6: 29,562,899 (GRCm39) |
S606* |
probably null |
Het |
| Zfp804a |
T |
C |
2: 81,884,220 (GRCm39) |
L29P |
possibly damaging |
Het |
| Zfp94 |
C |
T |
7: 24,003,179 (GRCm39) |
G88R |
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 |
|
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 |
2015-04-16 |
Incidental Mutation