Incidental Mutation 'R4204:Rpe65'
| ID |
318821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpe65
|
| Ensembl Gene |
ENSMUSG00000028174 |
| Gene Name |
retinal pigment epithelium 65 |
| Synonyms |
rd12, Mord1, A930029L06Rik |
| MMRRC Submission |
041033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R4204 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 159310047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 107
(A107T)
|
| 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: A107T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: A107T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196999
AA Change: A107T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: A107T
| 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 |
|
| Meta Mutation Damage Score |
0.2255 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (46/47) |
| 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 |
|---|
| Abca1 |
T |
C |
4: 53,090,369 (GRCm39) |
K360R |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| B130006D01Rik |
A |
G |
11: 95,617,250 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
A |
T |
3: 95,797,057 (GRCm39) |
Y37* |
probably null |
Het |
| Ccdc171 |
A |
T |
4: 83,599,392 (GRCm39) |
M736L |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,413,399 (GRCm39) |
K646E |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,410,335 (GRCm39) |
T192A |
probably benign |
Het |
| Hgs |
C |
A |
11: 120,368,013 (GRCm39) |
P241T |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,109,505 (GRCm39) |
Y235H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,706,923 (GRCm39) |
Y32H |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,732,046 (GRCm39) |
S335A |
probably damaging |
Het |
| Lgals9 |
C |
T |
11: 78,860,642 (GRCm39) |
|
probably benign |
Het |
| Mfrp |
G |
A |
9: 44,016,525 (GRCm39) |
G407S |
possibly damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,820,670 (GRCm39) |
G160R |
probably damaging |
Het |
| Mrtfb |
A |
T |
16: 13,221,119 (GRCm39) |
Q776L |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,745,256 (GRCm39) |
Y35C |
probably damaging |
Het |
| Nhej1 |
A |
T |
1: 75,085,782 (GRCm39) |
I6N |
probably damaging |
Het |
| Npy5r |
G |
T |
8: 67,134,693 (GRCm39) |
Y33* |
probably null |
Het |
| Or4c120 |
A |
G |
2: 89,001,124 (GRCm39) |
V144A |
probably benign |
Het |
| Pcdha8 |
G |
C |
18: 37,127,737 (GRCm39) |
V740L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,359,053 (GRCm39) |
C90F |
probably benign |
Het |
| Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,871,115 (GRCm39) |
H62L |
probably benign |
Het |
| Prodh |
A |
G |
16: 17,890,182 (GRCm39) |
V553A |
probably damaging |
Het |
| Rasgef1c |
G |
A |
11: 49,849,535 (GRCm39) |
V137M |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,231,042 (GRCm39) |
R1363* |
probably null |
Het |
| Rgl2 |
G |
T |
17: 34,155,906 (GRCm39) |
V694L |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,048 (GRCm39) |
N294D |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,410,892 (GRCm39) |
R56G |
possibly damaging |
Het |
| Serp2 |
A |
G |
14: 76,793,902 (GRCm39) |
I18T |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,868,415 (GRCm39) |
I92V |
probably benign |
Het |
| Tcaim |
A |
G |
9: 122,662,683 (GRCm39) |
K417R |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,640,829 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,964,928 (GRCm39) |
D1474E |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,944,593 (GRCm39) |
E43G |
probably damaging |
Het |
| Utp14b |
G |
A |
1: 78,642,539 (GRCm39) |
E146K |
probably benign |
Het |
| Zfp800 |
C |
T |
6: 28,243,180 (GRCm39) |
S595N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGGGGAGATTCATGATTCC -3'
(R):5'- TGGTCTCTGTGCATGCATAG -3'
Sequencing Primer
(F):5'- GGGAGATTCATGATTCCAATTTGATG -3'
(R):5'- CTCCCACTGGGTAGATATTTACAAGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation