Incidental Mutation 'R6830:Rpe65'
| ID |
534337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpe65
|
| Ensembl Gene |
ENSMUSG00000028174 |
| Gene Name |
retinal pigment epithelium 65 |
| Synonyms |
rd12, Mord1, A930029L06Rik |
| MMRRC Submission |
044940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R6830 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 159319805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 225
(V225A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029824]
[ENSMUST00000196999]
|
| AlphaFold |
Q91ZQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029824
AA Change: V225A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: V225A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196999
AA Change: V225A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: V225A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (53/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
C |
3: 146,356,716 (GRCm39) |
D64G |
possibly damaging |
Het |
| Amtn |
T |
C |
5: 88,525,956 (GRCm39) |
L40P |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,792,342 (GRCm39) |
R90G |
probably damaging |
Het |
| Arfgef3 |
A |
C |
10: 18,540,637 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
C |
T |
18: 22,658,445 (GRCm39) |
P2152S |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,512,381 (GRCm39) |
V494E |
probably damaging |
Het |
| Bik |
T |
A |
15: 83,428,409 (GRCm39) |
Y146N |
probably benign |
Het |
| C1qtnf7 |
A |
T |
5: 43,766,436 (GRCm39) |
I12F |
possibly damaging |
Het |
| Cacna1e |
A |
G |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
A |
G |
1: 44,095,890 (GRCm39) |
V1736A |
probably benign |
Het |
| Ccnj |
A |
G |
19: 40,833,636 (GRCm39) |
E231G |
probably damaging |
Het |
| Cd101 |
T |
C |
3: 100,901,012 (GRCm39) |
K1020R |
probably benign |
Het |
| Cdh6 |
C |
A |
15: 13,044,860 (GRCm39) |
V421L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,205,668 (GRCm39) |
S135P |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,924,355 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
| Epx |
A |
G |
11: 87,759,452 (GRCm39) |
F546L |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,966 (GRCm39) |
M3206K |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,952,332 (GRCm39) |
D179G |
probably benign |
Het |
| Gbgt1 |
A |
G |
2: 28,395,220 (GRCm39) |
D286G |
probably damaging |
Het |
| Gpn1 |
T |
A |
5: 31,664,832 (GRCm39) |
S285R |
probably benign |
Het |
| Htt |
T |
A |
5: 34,991,670 (GRCm39) |
Y1212N |
possibly damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,314,745 (GRCm39) |
K159R |
probably damaging |
Het |
| Ldb2 |
T |
A |
5: 44,699,199 (GRCm39) |
I80F |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,294,602 (GRCm39) |
N89K |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,769,775 (GRCm39) |
R173C |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,903,935 (GRCm39) |
F26L |
probably benign |
Het |
| Neil3 |
G |
T |
8: 54,052,514 (GRCm39) |
N361K |
probably benign |
Het |
| Nepro |
A |
G |
16: 44,551,720 (GRCm39) |
R193G |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,447 (GRCm39) |
I198N |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,731,113 (GRCm39) |
Q3205L |
unknown |
Het |
| Plekhm1 |
A |
T |
11: 103,267,715 (GRCm39) |
I752N |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,878,614 (GRCm39) |
T273A |
possibly damaging |
Het |
| Prep |
T |
A |
10: 44,973,597 (GRCm39) |
M235K |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,999,993 (GRCm39) |
|
probably null |
Het |
| Reg2 |
A |
G |
6: 78,384,625 (GRCm39) |
H119R |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,398,373 (GRCm39) |
D79G |
probably damaging |
Het |
| Slc25a23 |
G |
A |
17: 57,360,804 (GRCm39) |
R9* |
probably null |
Het |
| Snai3 |
A |
G |
8: 123,183,212 (GRCm39) |
L111P |
probably damaging |
Het |
| Stk38 |
A |
G |
17: 29,218,981 (GRCm39) |
|
probably null |
Het |
| Stk38l |
A |
T |
6: 146,668,269 (GRCm39) |
I115F |
possibly damaging |
Het |
| Tmco6 |
T |
A |
18: 36,871,406 (GRCm39) |
|
probably null |
Het |
| Tollip |
A |
T |
7: 141,452,451 (GRCm39) |
M1K |
probably null |
Het |
| Trim40 |
T |
C |
17: 37,199,742 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,163,550 (GRCm39) |
Y719* |
probably null |
Het |
| Ubald1 |
T |
C |
16: 4,697,584 (GRCm39) |
D6G |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,171 (GRCm39) |
S476R |
probably benign |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zbtb21 |
C |
T |
16: 97,753,161 (GRCm39) |
G402D |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,475,911 (GRCm39) |
Y201C |
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,770,028 (GRCm39) |
H62L |
probably damaging |
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 |
|
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'- AACTTGGTGGGACCCTTAGG -3'
(R):5'- GTGGGTAAGCGTCTACACAAAG -3'
Sequencing Primer
(F):5'- GAGCTATGAAAAATCCACATCTGAAG -3'
(R):5'- CTCAGATTTACAGTGCTTACATGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation