Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Rpe65'

243614

Institutional Source

Beutler Lab

Gene Symbol

Rpe65

Ensembl Gene

ENSMUSG00000028174

Gene Name

retinal pigment epithelium 65

Synonyms

rd12, Mord1, A930029L06Rik

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

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

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

159304812-159330958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 159321208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 340 (Y340C)

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: Y340C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: Y340C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196999
AA Change: Y340C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: Y340C

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,189,375 (GRCm39)	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,367,168 (GRCm39)	N247T	probably damaging	Het
Atp10b	A	G	11: 43,063,572 (GRCm39)	D169G	probably damaging	Het
Atp10b	G	A	11: 43,080,440 (GRCm39)	V239M	probably damaging	Het
Cflar	C	T	1: 58,768,280 (GRCm39)	T121I	probably benign	Het
Clca3b	T	C	3: 144,552,142 (GRCm39)	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,177,192 (GRCm39)	I62N	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,008,460 (GRCm39)	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,046,631 (GRCm39)	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,174,568 (GRCm39)	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,662,841 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,922,196 (GRCm39)	I143T	probably damaging	Het
E2f7	T	G	10: 110,582,204 (GRCm39)	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,063,172 (GRCm39)	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,286,264 (GRCm39)	I1017L	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Exoc7	T	C	11: 116,197,237 (GRCm39)	S35G	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fmn2	T	A	1: 174,330,498 (GRCm39)	L296H	unknown	Het
Galnt14	C	A	17: 73,801,261 (GRCm39)	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107 (GRCm39)	C396R	probably benign	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Glb1	C	T	9: 114,272,100 (GRCm39)	Q246*	probably null	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,950,444 (GRCm39)	Y172C	probably damaging	Het
Ift52	A	G	2: 162,870,013 (GRCm39)	N159S	probably benign	Het
Insrr	A	G	3: 87,707,759 (GRCm39)	D67G	probably damaging	Het
Insyn2a	T	A	7: 134,519,396 (GRCm39)	E378V	probably damaging	Het
Irf2	A	G	8: 47,290,868 (GRCm39)	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,732,140 (GRCm39)	H187R	probably damaging	Het
Kdm2b	C	T	5: 123,020,479 (GRCm39)	G90S	probably damaging	Het
Kif7	C	T	7: 79,361,337 (GRCm39)	G118D	probably damaging	Het
Klhl38	G	C	15: 58,178,374 (GRCm39)	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,792,440 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,907,123 (GRCm39)	L2346S	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo7a	T	G	7: 97,718,706 (GRCm39)	D1388A	probably damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Ncoa1	A	C	12: 4,365,819 (GRCm39)	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,986,877 (GRCm39)	L212F	probably damaging	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Npy2r	G	T	3: 82,448,661 (GRCm39)	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,671,537 (GRCm39)	D24E	probably damaging	Het
Or14c41	T	A	7: 86,235,092 (GRCm39)	V203D	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Phf3	A	G	1: 30,843,424 (GRCm39)	V1845A	probably benign	Het
Plch1	T	A	3: 63,605,398 (GRCm39)	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,190,908 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,882,459 (GRCm39)	V1541A	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Pura	T	C	18: 36,420,803 (GRCm39)	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 184,954,056 (GRCm39)	W43R	probably damaging	Het
Repin1	A	G	6: 48,573,464 (GRCm39)	Q128R	probably benign	Het
Rnf208	G	A	2: 25,133,656 (GRCm39)	V117I	probably damaging	Het
Ryr1	C	A	7: 28,719,166 (GRCm39)	V4414L	unknown	Het
Sephs2	T	C	7: 126,872,649 (GRCm39)	E148G	possibly damaging	Het
Spns2	T	A	11: 72,348,094 (GRCm39)	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,946,915 (GRCm39)	P1090S	probably benign	Het
Tasp1	A	T	2: 139,793,426 (GRCm39)	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,568,364 (GRCm39)	I664T	possibly damaging	Het
Tg	T	C	15: 66,555,747 (GRCm39)	V813A	probably benign	Het
Tmem132c	T	C	5: 127,581,988 (GRCm39)	L401P	probably benign	Het
Tmem138	T	C	19: 10,548,967 (GRCm39)	N101S	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Tnni3	T	A	7: 4,522,405 (GRCm39)	I182F	probably benign	Het
Trim30a	T	A	7: 104,060,711 (GRCm39)	D355V	probably damaging	Het
Trim35	C	T	14: 66,546,711 (GRCm39)	R493*	probably null	Het
Trip10	G	C	17: 57,562,135 (GRCm39)	V254L	probably benign	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780 (GRCm39)	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Usp8	A	G	2: 126,600,488 (GRCm39)	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,590,119 (GRCm39)	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zfp407	G	T	18: 84,227,918 (GRCm39)	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,791,459 (GRCm39)	R2188*	probably null	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
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'- GTTGTGACCTAAGGAACAATCAC -3'
(R):5'- GATGGGAATCACTGGGTCTG -3'

Sequencing Primer
(F):5'- CCAACAGTGGTAGAGCACTTGTC -3'
(R):5'- GTGGAAGTCACCCTTTCTAAATCAC -3'

Posted On

2014-10-16