Incidental Mutation 'R9042:Rpe65'
| ID |
687770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpe65
|
| Ensembl Gene |
ENSMUSG00000028174 |
| Gene Name |
retinal pigment epithelium 65 |
| Synonyms |
rd12, Mord1, A930029L06Rik |
| MMRRC Submission |
068869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R9042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 159321292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 368
(Y368F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029824]
[ENSMUST00000196999]
|
| AlphaFold |
Q91ZQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029824
AA Change: Y368F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: Y368F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196999
AA Change: Y368F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: Y368F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
G |
15: 11,152,134 (GRCm39) |
K208R |
probably benign |
Het |
| Amh |
T |
C |
10: 80,642,443 (GRCm39) |
M242T |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,488,510 (GRCm39) |
Y440C |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,538,263 (GRCm39) |
E499* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,735,065 (GRCm39) |
I967V |
probably benign |
Het |
| Cpa6 |
T |
C |
1: 10,407,515 (GRCm39) |
T341A |
probably benign |
Het |
| Cyp26b1 |
T |
A |
6: 84,553,590 (GRCm39) |
Y263F |
probably benign |
Het |
| Ecm2 |
C |
A |
13: 49,682,439 (GRCm39) |
Y489* |
probably null |
Het |
| Gpr22 |
C |
A |
12: 31,759,853 (GRCm39) |
V90L |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,836,438 (GRCm39) |
V516M |
probably benign |
Het |
| Ipo5 |
C |
T |
14: 121,160,547 (GRCm39) |
S188L |
probably benign |
Het |
| Kcnh6 |
T |
A |
11: 105,908,464 (GRCm39) |
I360N |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,392,029 (GRCm39) |
D512Y |
|
Het |
| Lrpprc |
C |
T |
17: 85,059,736 (GRCm39) |
|
probably null |
Het |
| Lta4h |
A |
G |
10: 93,318,850 (GRCm39) |
K547R |
probably benign |
Het |
| Nacad |
G |
C |
11: 6,548,948 (GRCm39) |
P1340R |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,156,301 (GRCm39) |
K495E |
probably benign |
Het |
| Ndufaf7 |
A |
T |
17: 79,245,968 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
A |
G |
11: 76,941,477 (GRCm39) |
V77A |
probably benign |
Het |
| Or1f19 |
A |
T |
16: 3,411,132 (GRCm39) |
S291C |
probably damaging |
Het |
| Or8k3b |
T |
C |
2: 86,521,139 (GRCm39) |
Y60C |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,456 (GRCm39) |
V73A |
probably damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,574,493 (GRCm39) |
T231I |
probably benign |
Het |
| Parp11 |
C |
A |
6: 127,448,615 (GRCm39) |
Y77* |
probably null |
Het |
| Phc3 |
T |
A |
3: 30,983,916 (GRCm39) |
T712S |
unknown |
Het |
| Pkm |
T |
A |
9: 59,579,220 (GRCm39) |
I335N |
probably damaging |
Het |
| Pmpca |
A |
G |
2: 26,283,581 (GRCm39) |
T417A |
probably benign |
Het |
| Pot1b |
C |
T |
17: 56,006,991 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
T |
A |
18: 57,507,764 (GRCm39) |
|
probably null |
Het |
| Psg18 |
A |
T |
7: 18,083,047 (GRCm39) |
N369K |
probably benign |
Het |
| Pum3 |
T |
A |
19: 27,399,791 (GRCm39) |
Y214F |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,253,036 (GRCm39) |
T637M |
probably damaging |
Het |
| Serpina3a |
A |
G |
12: 104,082,362 (GRCm39) |
D45G |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,199,731 (GRCm39) |
L263F |
probably damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,352,553 (GRCm39) |
V444I |
probably damaging |
Het |
| Slc40a1 |
C |
T |
1: 45,948,621 (GRCm39) |
G553D |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,037 (GRCm39) |
Q665R |
possibly damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,123,185 (GRCm39) |
I3275T |
probably benign |
Het |
| Taf7 |
C |
A |
18: 37,776,223 (GRCm39) |
D115Y |
probably damaging |
Het |
| Tanc1 |
G |
C |
2: 59,673,766 (GRCm39) |
A1624P |
probably benign |
Het |
| Tmed4 |
T |
C |
11: 6,224,405 (GRCm39) |
D85G |
probably benign |
Het |
| Tmed6 |
A |
G |
8: 107,790,385 (GRCm39) |
V138A |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,977,517 (GRCm39) |
T370A |
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,720,310 (GRCm39) |
T91A |
probably benign |
Het |
| Ube4b |
C |
G |
4: 149,444,833 (GRCm39) |
A476P |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,435 (GRCm39) |
C795R |
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 |
|
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 |
|
R9483:Rpe65
|
UTSW |
3 |
159,328,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGTGACCTAAGGAACAATCAC -3'
(R):5'- ATGGGAATCACTGGGTCTGTAG -3'
Sequencing Primer
(F):5'- AGTTCAAGGTCAGCCTATGC -3'
(R):5'- GTGGAAGTCACCCTTTCTAAATCAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation