Mutagenetix > Incidental Mutation

Incidental Mutation 'R1597:Rpe65'

175855

Institutional Source

Beutler Lab

Gene Symbol

Rpe65

Ensembl Gene

ENSMUSG00000028174

Gene Name

retinal pigment epithelium 65

Synonyms

rd12, Mord1, A930029L06Rik

MMRRC Submission

039634-MU

Accession Numbers

Essential gene?

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

Stock #

R1597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

159304812-159330958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 159320421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 326 (V326E)

Ref Sequence

ENSEMBL: ENSMUSP00000143654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029824] [ENSMUST00000196999]

AlphaFold

Q91ZQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029824
AA Change: V326E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: V326E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196999
AA Change: V326E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: V326E

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

Meta Mutation Damage Score

0.6702

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

100% (77/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	A	T	19: 34,229,983 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,902,881 (GRCm39)	N748S	probably benign	Het
Aox1	T	A	1: 58,086,326 (GRCm39)	I77N	probably damaging	Het
Ap1s1	A	T	5: 137,072,095 (GRCm39)	M20K	probably damaging	Het
Atad3a	A	T	4: 155,835,892 (GRCm39)		probably null	Het
Atp1b1	G	T	1: 164,265,889 (GRCm39)	R291S	probably damaging	Het
Birc7	T	C	2: 180,570,974 (GRCm39)	V12A	possibly damaging	Het
Btnl2	T	C	17: 34,582,211 (GRCm39)	V259A	probably damaging	Het
Cdh11	A	T	8: 103,377,343 (GRCm39)	N434K	probably benign	Het
Cel	G	T	2: 28,450,479 (GRCm39)		probably benign	Het
Col10a1	A	G	10: 34,271,074 (GRCm39)	K349E	probably damaging	Het
Ddhd2	A	G	8: 26,239,768 (GRCm39)	V315A	probably benign	Het
Dnah17	C	A	11: 117,994,324 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,595,474 (GRCm39)	T441A	probably benign	Het
Ermap	A	T	4: 119,041,152 (GRCm39)	I286N	probably damaging	Het
Fbxl17	T	C	17: 63,794,813 (GRCm39)	K423R	probably damaging	Het
Frem2	T	C	3: 53,561,940 (GRCm39)	T856A	probably benign	Het
Gas6	T	C	8: 13,543,901 (GRCm39)	E64G	probably damaging	Het
Gzma	T	A	13: 113,232,331 (GRCm39)	N190I	probably damaging	Het
Ifngr1	C	T	10: 19,485,090 (GRCm39)	T363M	probably damaging	Het
Itga7	A	G	10: 128,782,732 (GRCm39)	T690A	probably benign	Het
Kif15	A	G	9: 122,823,074 (GRCm39)	E485G	probably benign	Het
Kif18a	A	G	2: 109,123,336 (GRCm39)	I203M	probably damaging	Het
Klhl1	A	T	14: 96,438,647 (GRCm39)		probably null	Het
Lrch3	C	T	16: 32,770,781 (GRCm39)	Q128*	probably null	Het
Lrriq4	C	G	3: 30,705,037 (GRCm39)	P355R	probably damaging	Het
Mcm10	A	T	2: 5,003,563 (GRCm39)	H551Q	probably damaging	Het
Mcm3ap	T	C	10: 76,319,060 (GRCm39)	F763L	probably damaging	Het
Mdc1	T	A	17: 36,156,758 (GRCm39)	V55E	probably damaging	Het
Me2	A	T	18: 73,931,016 (GRCm39)	N92K	probably damaging	Het
Mtss1	A	G	15: 58,815,560 (GRCm39)	S667P	probably damaging	Het
Mup5	A	T	4: 61,753,317 (GRCm39)	Y15N	possibly damaging	Het
Mx1	T	A	16: 97,256,329 (GRCm39)	M197L	probably damaging	Het
N4bp2	C	T	5: 65,964,483 (GRCm39)	T844I	probably benign	Het
Nlrc3	T	A	16: 3,781,859 (GRCm39)	R517W	probably damaging	Het
Nos3	A	T	5: 24,573,995 (GRCm39)	I227F	probably damaging	Het
Or52a5	A	G	7: 103,427,267 (GRCm39)	F95S	probably benign	Het
Pabpc2	A	G	18: 39,906,953 (GRCm39)	N73D	probably damaging	Het
Pcdhb18	A	G	18: 37,624,820 (GRCm39)	R717G	probably benign	Het
Pcsk5	T	A	19: 17,413,964 (GRCm39)	M1702L	probably benign	Het
Plxna2	A	C	1: 194,431,614 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,630,755 (GRCm39)	M1221T	possibly damaging	Het
Polr2b	A	G	5: 77,473,948 (GRCm39)	D384G	probably damaging	Het
Ppl	T	A	16: 4,925,438 (GRCm39)	H67L	probably benign	Het
Psmd5	A	G	2: 34,757,035 (GRCm39)	L63S	probably damaging	Het
Psme1	A	G	14: 55,818,222 (GRCm39)	T150A	probably damaging	Het
Rapgef5	C	T	12: 117,621,940 (GRCm39)	R33C	probably damaging	Het
Rela	G	A	19: 5,695,359 (GRCm39)	R295H	probably damaging	Het
Scn5a	C	A	9: 119,391,563 (GRCm39)	R43L	probably damaging	Het
Skida1	T	C	2: 18,051,143 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,283,587 (GRCm39)	A469T	probably benign	Het
Spaca7	G	T	8: 12,630,991 (GRCm39)	E48*	probably null	Het
Syn3	G	T	10: 85,970,908 (GRCm39)	T238K	probably benign	Het
Taok1	A	G	11: 77,470,626 (GRCm39)	S60P	probably benign	Het
Tecpr1	A	G	5: 144,151,128 (GRCm39)	I256T	probably benign	Het
Tenm4	T	A	7: 96,552,196 (GRCm39)		probably null	Het
Tex15	A	G	8: 34,061,511 (GRCm39)	T588A	probably damaging	Het
Tgfbi	T	A	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem62	G	A	2: 120,814,843 (GRCm39)	A169T	probably benign	Het
Tnc	A	G	4: 63,924,621 (GRCm39)	S1026P	probably benign	Het
Tnik	T	C	3: 28,658,418 (GRCm39)	S568P	probably damaging	Het
Trpm6	A	T	19: 18,804,888 (GRCm39)	I947F	probably damaging	Het
Ttc27	T	A	17: 75,170,402 (GRCm39)	L832Q	possibly damaging	Het
U2surp	C	T	9: 95,363,793 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,841,064 (GRCm39)	D1009E	possibly damaging	Het
Unc13d	T	C	11: 115,965,262 (GRCm39)	E192G	probably benign	Het
Vmn2r71	T	C	7: 85,273,352 (GRCm39)	V722A	possibly damaging	Het
Zfp386	T	C	12: 116,023,709 (GRCm39)	S476P	probably damaging	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zfyve16	T	A	13: 92,644,755 (GRCm39)	N1149I	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
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
R9483:Rpe65	UTSW	3	159,328,318 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGCCAACTACATGGACTGTTTCG -3'
(R):5'- GTTCCTTAGGTCACAACCCAGACTG -3'

Sequencing Primer
(F):5'- GACTGTTTCGAGTCCAATGAAAGC -3'
(R):5'- GGTCACAACCCAGACTGTTATTG -3'

Posted On

2014-04-24