Mutagenetix > Incidental Mutation

Incidental Mutation 'R9483:Rpe65'

716349

Institutional Source

Beutler Lab

Gene Symbol

Rpe65

Ensembl Gene

ENSMUSG00000028174

Gene Name

retinal pigment epithelium 65

Synonyms

rd12, Mord1, A930029L06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R9483 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

159304812-159330958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 159328318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 405 (P405S)

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: P405S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: P405S

Domain	Start	End	E-Value	Type
Pfam:RPE65	15	532	1.4e-111	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196999
AA Change: P405S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: P405S

Domain	Start	End	E-Value	Type
Pfam:RPE65	15	532	1.4e-111	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,339,010 (GRCm39)	M334K	probably benign	Het
Abca1	A	T	4: 53,060,351 (GRCm39)	I1525N	probably benign	Het
Abca4	A	T	3: 121,879,275 (GRCm39)	I398F		Het
Acbd3	A	G	1: 180,572,721 (GRCm39)	D327G	probably benign	Het
Acsm3	A	G	7: 119,383,166 (GRCm39)	T544A	probably damaging	Het
Atp11a	C	T	8: 12,901,087 (GRCm39)	T972M	probably damaging	Het
Cbfb	C	T	8: 105,929,123 (GRCm39)	R147*	probably null	Het
Ccdc17	G	T	4: 116,454,144 (GRCm39)	R54L	probably benign	Het
Cracdl	T	G	1: 37,670,496 (GRCm39)	E148A	probably damaging	Het
Cuedc2	G	T	19: 46,319,399 (GRCm39)	A223E	probably benign	Het
Cul5	T	C	9: 53,532,474 (GRCm39)	I787V	probably benign	Het
D430041D05Rik	T	A	2: 104,087,563 (GRCm39)	H471L	probably benign	Het
Ddx39a	T	C	8: 84,448,916 (GRCm39)	Y264H	probably benign	Het
Dlgap3	C	A	4: 127,127,665 (GRCm39)	R778S	probably damaging	Het
Esrrg	T	C	1: 187,930,848 (GRCm39)	V313A	probably damaging	Het
Fam124a	T	C	14: 62,844,100 (GRCm39)	I536T	probably damaging	Het
Fbxo21	T	C	5: 118,127,272 (GRCm39)	F275L	possibly damaging	Het
Gabrg1	C	A	5: 70,999,558 (GRCm39)	G2V	possibly damaging	Het
Gcc1	G	T	6: 28,418,089 (GRCm39)	A748D	probably damaging	Het
Gjb6	T	C	14: 57,361,511 (GRCm39)	D250G	probably benign	Het
Gm44501	A	T	17: 40,889,872 (GRCm39)	K129*	probably null	Het
Hmcn2	T	G	2: 31,320,375 (GRCm39)	L3952R		Het
Hpd	A	G	5: 123,312,535 (GRCm39)	I278T	probably damaging	Het
Igsf3	T	A	3: 101,346,904 (GRCm39)	F613Y	probably damaging	Het
Igsf3	T	C	3: 101,346,817 (GRCm39)	F584S	probably damaging	Het
Ik	A	G	18: 36,886,635 (GRCm39)	D369G	probably benign	Het
Ikbke	A	G	1: 131,198,719 (GRCm39)	L365P	probably damaging	Het
Il22ra2	A	T	10: 19,508,542 (GRCm39)	Q190L	possibly damaging	Het
Itga6	T	C	2: 71,679,834 (GRCm39)	V1033A	probably benign	Het
Kif18a	T	C	2: 109,120,032 (GRCm39)	Y112H	probably damaging	Het
Krt75	T	C	15: 101,482,238 (GRCm39)	H10R	probably benign	Het
L3mbtl1	T	A	2: 162,790,734 (GRCm39)	L93H	probably benign	Het
Lrfn1	G	A	7: 28,158,183 (GRCm39)	C34Y	probably damaging	Het
Lrrc47	A	T	4: 154,101,920 (GRCm39)	I396F	probably damaging	Het
Mgat3	T	A	15: 80,095,641 (GRCm39)	V156E	probably benign	Het
Mtus2	A	G	5: 148,232,300 (GRCm39)	D1120G	possibly damaging	Het
Muc5ac	G	T	7: 141,365,465 (GRCm39)	E2700*	probably null	Het
Nxpe5	A	T	5: 138,228,591 (GRCm39)		probably benign	Het
Or51v15-ps1	T	C	7: 103,278,931 (GRCm39)	T79A	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhga4	T	A	18: 37,819,746 (GRCm39)	S432T	possibly damaging	Het
Pdk4	T	A	6: 5,486,716 (GRCm39)	M353L	probably benign	Het
Ppp1r13b	T	A	12: 111,800,210 (GRCm39)	K645N	probably benign	Het
Ppt1	A	T	4: 122,751,367 (GRCm39)	D288V	possibly damaging	Het
Prkcb	A	G	7: 122,181,663 (GRCm39)	Y417C	probably damaging	Het
Prss22	A	G	17: 24,215,721 (GRCm39)	I67T	probably damaging	Het
Rab29	T	C	1: 131,795,508 (GRCm39)	V40A	possibly damaging	Het
Rae1	T	C	2: 172,849,941 (GRCm39)		probably null	Het
Rasa3	C	T	8: 13,630,033 (GRCm39)		probably null	Het
Rasgrp3	A	G	17: 75,807,717 (GRCm39)	D258G	probably benign	Het
Rcc1	T	A	4: 132,062,808 (GRCm39)	T208S	probably benign	Het
Rgs3	C	A	4: 62,575,354 (GRCm39)	Y580*	probably null	Het
Rsf1	GGCGGC	GGCGGCGGCAGCGGC	7: 97,229,137 (GRCm39)		probably benign	Het
Rsph4a	A	G	10: 33,790,418 (GRCm39)	E669G	probably damaging	Het
Rusc1	A	T	3: 88,994,113 (GRCm39)	V964E	probably benign	Het
Rusc2	A	G	4: 43,415,897 (GRCm39)	N401S	probably damaging	Het
Slc10a1	G	T	12: 81,002,864 (GRCm39)	T258K	probably damaging	Het
Slc5a9	A	G	4: 111,747,418 (GRCm39)	L323P	probably damaging	Het
Slc6a17	T	A	3: 107,378,772 (GRCm39)	I637F	possibly damaging	Het
Slc8a2	A	G	7: 15,886,780 (GRCm39)	E641G	possibly damaging	Het
Sptbn2	G	T	19: 4,789,974 (GRCm39)	A1321S	probably damaging	Het
Ssh2	G	T	11: 77,283,976 (GRCm39)	A77S	possibly damaging	Het
St13	G	T	15: 81,250,587 (GRCm39)	N316K	probably damaging	Het
Taf10	A	G	7: 105,393,062 (GRCm39)	M121T	probably benign	Het
Tcta	T	C	9: 108,182,942 (GRCm39)	T68A	probably damaging	Het
Timd2	A	T	11: 46,577,889 (GRCm39)	Y81N	probably damaging	Het
Tln2	T	C	9: 67,299,769 (GRCm39)	E161G	probably damaging	Het
Tmed10	T	C	12: 85,397,621 (GRCm39)	I123V	probably benign	Het
Ttf1	T	C	2: 28,969,492 (GRCm39)		probably null	Het
Tubg1	A	G	11: 101,016,886 (GRCm39)	D396G	probably damaging	Het
Uhmk1	A	G	1: 170,034,913 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,103,221 (GRCm39)	A922T	probably benign	Het
Usp24	T	A	4: 106,219,379 (GRCm39)	V525E	probably damaging	Het
Usp28	C	A	9: 48,947,037 (GRCm39)	Q823K	probably damaging	Het
Vldlr	A	T	19: 27,224,031 (GRCm39)	I764F	probably benign	Het
Vmn2r88	T	C	14: 51,648,641 (GRCm39)	Y62H		Het
Zfp423	T	A	8: 88,507,725 (GRCm39)	N873I	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTAACCAGTCTCCTTGTCTG -3'
(R):5'- TCAACCCAAGTCCGTATGC -3'

Sequencing Primer
(F):5'- CCTTAAATGGTGACCTCTGAAAAGAG -3'
(R):5'- CCGTATGCATAAGTATAAGGTTTCCC -3'

Posted On

2022-07-18