Incidental Mutation 'R7679:Rpe65'
| ID |
592623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpe65
|
| Ensembl Gene |
ENSMUSG00000028174 |
| Gene Name |
retinal pigment epithelium 65 |
| Synonyms |
rd12, Mord1, A930029L06Rik |
| MMRRC Submission |
045707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R7679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
159304812-159330958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 159310030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 101
(T101I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029824]
[ENSMUST00000196999]
[ENSMUST00000197771]
|
| AlphaFold |
Q91ZQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029824
AA Change: T101I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: T101I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
15 |
532 |
1.4e-111 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196999
AA Change: T101I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: T101I
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
C |
14: 78,752,256 (GRCm39) |
Y206D |
|
Het |
| Atm |
A |
T |
9: 53,353,797 (GRCm39) |
I2906N |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,647,678 (GRCm39) |
V422A |
probably benign |
Het |
| Bod1l |
TTCAGGGATC |
TTC |
5: 41,977,986 (GRCm39) |
|
probably null |
Het |
| Ccar2 |
G |
A |
14: 70,376,684 (GRCm39) |
Q887* |
probably null |
Het |
| Cdh13 |
A |
G |
8: 119,963,658 (GRCm39) |
I413V |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,803,374 (GRCm39) |
V1556A |
probably benign |
Het |
| Chchd7 |
A |
T |
4: 3,941,297 (GRCm39) |
N14Y |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,105,110 (GRCm39) |
T824N |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,739,473 (GRCm39) |
Y859N |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,136,392 (GRCm39) |
P131S |
unknown |
Het |
| Erh |
T |
C |
12: 80,684,345 (GRCm39) |
N44S |
probably benign |
Het |
| Esm1 |
T |
A |
13: 113,346,646 (GRCm39) |
D90E |
probably damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,238,089 (GRCm39) |
F213L |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,456,789 (GRCm39) |
T2262A |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,495,058 (GRCm39) |
Q281R |
probably benign |
Het |
| Gdpgp1 |
G |
T |
7: 79,888,324 (GRCm39) |
E118D |
probably benign |
Het |
| Gnas |
A |
T |
2: 174,126,624 (GRCm39) |
Q53L |
probably damaging |
Het |
| Gpr142 |
G |
A |
11: 114,697,533 (GRCm39) |
V360M |
possibly damaging |
Het |
| Grn |
A |
G |
11: 102,323,895 (GRCm39) |
D46G |
probably benign |
Het |
| H2-T10 |
A |
G |
17: 36,430,216 (GRCm39) |
F242L |
not run |
Het |
| Hgsnat |
T |
C |
8: 26,444,665 (GRCm39) |
T428A |
probably damaging |
Het |
| Hoxa9 |
A |
G |
6: 52,201,288 (GRCm39) |
I251T |
probably damaging |
Het |
| Inpp5f |
C |
T |
7: 128,296,247 (GRCm39) |
T866I |
possibly damaging |
Het |
| Itgb1 |
T |
A |
8: 129,446,929 (GRCm39) |
N481K |
probably damaging |
Het |
| Leng9 |
C |
A |
7: 4,152,659 (GRCm39) |
D6Y |
probably benign |
Het |
| Lox |
A |
C |
18: 52,658,178 (GRCm39) |
F332V |
possibly damaging |
Het |
| Lrp1 |
G |
T |
10: 127,424,297 (GRCm39) |
Y796* |
probably null |
Het |
| Lrrc32 |
G |
A |
7: 98,148,894 (GRCm39) |
G558D |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,610,389 (GRCm39) |
E707G |
possibly damaging |
Het |
| Matn4 |
A |
G |
2: 164,231,578 (GRCm39) |
*625R |
probably null |
Het |
| Mcur1 |
T |
A |
13: 43,697,959 (GRCm39) |
K314* |
probably null |
Het |
| Med1 |
G |
C |
11: 98,046,887 (GRCm39) |
P1303R |
unknown |
Het |
| Mgam |
T |
C |
6: 40,619,980 (GRCm39) |
L23P |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,651,205 (GRCm39) |
I936V |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,064,142 (GRCm39) |
S557G |
probably benign |
Het |
| Palb2 |
A |
G |
7: 121,727,237 (GRCm39) |
I211T |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,098,327 (GRCm39) |
V456A |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,376 (GRCm39) |
V40M |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,970,660 (GRCm39) |
K344E |
probably benign |
Het |
| Pik3r3 |
T |
A |
4: 116,113,392 (GRCm39) |
M45K |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,633 (GRCm39) |
V196A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,649,183 (GRCm39) |
I3719N |
probably damaging |
Het |
| Psg16 |
G |
A |
7: 16,827,685 (GRCm39) |
G123S |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,828,425 (GRCm39) |
D1815G |
probably damaging |
Het |
| Rpp25l |
A |
C |
4: 41,712,326 (GRCm39) |
C150G |
unknown |
Het |
| Saxo4 |
T |
C |
19: 10,459,618 (GRCm39) |
T30A |
probably damaging |
Het |
| Serpina1b |
A |
T |
12: 103,696,774 (GRCm39) |
W212R |
probably damaging |
Het |
| Slc9a3 |
G |
A |
13: 74,308,395 (GRCm39) |
R466H |
possibly damaging |
Het |
| Sned1 |
T |
C |
1: 93,163,760 (GRCm39) |
L17P |
unknown |
Het |
| Speg |
C |
T |
1: 75,382,959 (GRCm39) |
T1056I |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,219,540 (GRCm39) |
F281L |
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,494,534 (GRCm39) |
V1032I |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,852,088 (GRCm39) |
S270T |
probably benign |
Het |
| Txndc15 |
G |
T |
13: 55,873,621 (GRCm39) |
R327L |
probably damaging |
Het |
| Zfp169 |
G |
C |
13: 48,651,859 (GRCm39) |
L66V |
probably damaging |
Het |
| Zfp442 |
G |
T |
2: 150,252,917 (GRCm39) |
Y45* |
probably null |
Het |
| Zzef1 |
A |
G |
11: 72,784,104 (GRCm39) |
D2003G |
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 |
|
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'- CATCTTTCGGAGCCTCAGTC -3'
(R):5'- ACTGGGTAGATATTTACAAGGGC -3'
Sequencing Primer
(F):5'- CTCTCTATCACCGGCTTGGGG -3'
(R):5'- AGGGCATTGTCAGTAACCTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation