Incidental Mutation 'IGL03350:Rpe65'
| ID |
419657 |
| 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 # |
IGL03350
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 159320154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 269
(S269C)
|
| 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: S269C
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: S269C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196999
AA Change: S269C
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: S269C
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,022,589 (GRCm39) |
Y300* |
probably null |
Het |
| Adgre1 |
T |
A |
17: 57,708,908 (GRCm39) |
V33E |
probably benign |
Het |
| AI987944 |
A |
G |
7: 41,042,661 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
T |
C |
7: 30,420,292 (GRCm39) |
L813P |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,774 (GRCm39) |
N396D |
probably damaging |
Het |
| Brat1 |
T |
C |
5: 140,691,750 (GRCm39) |
L9P |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,599,615 (GRCm39) |
I810T |
possibly damaging |
Het |
| Clec2m |
C |
A |
6: 129,307,986 (GRCm39) |
V28L |
probably benign |
Het |
| Cyp2a22 |
T |
C |
7: 26,634,279 (GRCm39) |
T292A |
possibly damaging |
Het |
| Ecm2 |
C |
T |
13: 49,674,420 (GRCm39) |
T280I |
probably benign |
Het |
| Fa2h |
C |
T |
8: 112,075,928 (GRCm39) |
V232I |
probably benign |
Het |
| Fbxw24 |
T |
C |
9: 109,436,081 (GRCm39) |
D317G |
probably damaging |
Het |
| Flt4 |
C |
A |
11: 49,525,620 (GRCm39) |
S722* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,290,649 (GRCm39) |
Q85R |
probably damaging |
Het |
| Gm3239 |
A |
G |
14: 15,882,083 (GRCm39) |
R188G |
possibly damaging |
Het |
| Hspa13 |
A |
T |
16: 75,554,717 (GRCm39) |
S456R |
probably damaging |
Het |
| Htr1b |
T |
C |
9: 81,514,175 (GRCm39) |
Y144C |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,038,856 (GRCm39) |
H198R |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,854,952 (GRCm39) |
M953K |
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,307,893 (GRCm39) |
T255K |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,268,797 (GRCm39) |
D4162V |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,345,201 (GRCm39) |
D342G |
probably damaging |
Het |
| Miip |
A |
G |
4: 147,946,979 (GRCm39) |
V258A |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,238,324 (GRCm39) |
H52R |
probably damaging |
Het |
| Nfs1 |
T |
C |
2: 155,969,660 (GRCm39) |
E329G |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,009,605 (GRCm39) |
V37A |
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,595 (GRCm39) |
Y155H |
probably damaging |
Het |
| Or1e17 |
A |
T |
11: 73,831,664 (GRCm39) |
L197F |
probably damaging |
Het |
| Or5aq1b |
A |
C |
2: 86,901,904 (GRCm39) |
D191E |
probably damaging |
Het |
| Pex16 |
T |
A |
2: 92,207,842 (GRCm39) |
M98K |
probably damaging |
Het |
| Pla2r1 |
C |
T |
2: 60,285,517 (GRCm39) |
C699Y |
probably damaging |
Het |
| Plcd4 |
A |
T |
1: 74,588,460 (GRCm39) |
D103V |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,095,966 (GRCm39) |
D129G |
probably damaging |
Het |
| Rad23a |
T |
C |
8: 85,564,108 (GRCm39) |
E265G |
possibly damaging |
Het |
| Rbm11 |
C |
T |
16: 75,397,696 (GRCm39) |
P209S |
probably benign |
Het |
| Ribc2 |
T |
A |
15: 85,019,703 (GRCm39) |
W162R |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,504,204 (GRCm39) |
E32G |
possibly damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,291,558 (GRCm39) |
Y240F |
probably benign |
Het |
| Sorbs2 |
C |
T |
8: 46,258,844 (GRCm39) |
P1047L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,580,166 (GRCm39) |
I23576V |
probably damaging |
Het |
| Usp24 |
T |
G |
4: 106,228,276 (GRCm39) |
Y780* |
probably null |
Het |
| Wee2 |
T |
C |
6: 40,426,665 (GRCm39) |
S145P |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,931,188 (GRCm39) |
T126A |
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,061,692 (GRCm39) |
|
probably benign |
Het |
| Zup1 |
G |
A |
10: 33,804,107 (GRCm39) |
R456C |
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 |
|
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 |
|
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