Incidental Mutation 'IGL01815:Rpe65'
ID |
154388 |
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 # |
IGL01815
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 159310167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143654
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029824]
[ENSMUST00000029824]
[ENSMUST00000196999]
[ENSMUST00000197771]
|
AlphaFold |
Q91ZQ5 |
Predicted Effect |
probably null
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 null
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 null
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
A |
G |
4: 155,986,644 (GRCm39) |
E324G |
probably damaging |
Het |
Arhgap20 |
T |
A |
9: 51,757,468 (GRCm39) |
Y487N |
probably damaging |
Het |
Babam2 |
C |
T |
5: 31,859,442 (GRCm39) |
A3V |
possibly damaging |
Het |
Fat4 |
T |
C |
3: 38,942,922 (GRCm39) |
L605P |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,284,239 (GRCm39) |
H1020R |
probably benign |
Het |
Ighv1-53 |
T |
A |
12: 115,122,217 (GRCm39) |
M53L |
probably benign |
Het |
Lepr |
A |
T |
4: 101,671,987 (GRCm39) |
I1004F |
possibly damaging |
Het |
Limd1 |
T |
C |
9: 123,308,801 (GRCm39) |
S167P |
probably benign |
Het |
Lrrc10b |
T |
C |
19: 10,434,117 (GRCm39) |
D188G |
probably damaging |
Het |
Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
Or56b1 |
T |
A |
7: 104,285,552 (GRCm39) |
Y224N |
probably damaging |
Het |
Or5b104 |
A |
T |
19: 13,073,020 (GRCm39) |
|
probably null |
Het |
Or7e165 |
A |
G |
9: 19,695,311 (GRCm39) |
N294S |
probably damaging |
Het |
Or7g21 |
G |
T |
9: 19,032,622 (GRCm39) |
D121Y |
probably damaging |
Het |
P2ry13 |
T |
C |
3: 59,117,121 (GRCm39) |
N219S |
probably benign |
Het |
Pcnx1 |
A |
G |
12: 82,037,325 (GRCm39) |
D1861G |
probably damaging |
Het |
Phlpp2 |
A |
G |
8: 110,666,491 (GRCm39) |
I1007V |
probably benign |
Het |
Ppp2r1a |
A |
G |
17: 21,177,094 (GRCm39) |
N211D |
probably benign |
Het |
Psmd5 |
A |
T |
2: 34,742,783 (GRCm39) |
F440L |
probably benign |
Het |
Utrn |
T |
C |
10: 12,528,460 (GRCm39) |
T2172A |
probably benign |
Het |
Vwa8 |
C |
T |
14: 79,435,717 (GRCm39) |
T1809M |
possibly damaging |
Het |
Wdr70 |
C |
T |
15: 7,916,805 (GRCm39) |
|
probably null |
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 |
|
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 |
2014-02-04 |