Incidental Mutation 'R1778:Rpe65'
ID 197210
Institutional Source Beutler Lab
Gene Symbol Rpe65
Ensembl Gene ENSMUSG00000028174
Gene Name retinal pigment epithelium 65
Synonyms rd12, Mord1, A930029L06Rik
MMRRC Submission 039809-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R1778 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 159304812-159330958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 159328485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 431 (Y431C)
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: Y431C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: Y431C

DomainStartEndE-ValueType
Pfam:RPE65 15 532 1.4e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196999
AA Change: Y431C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: Y431C

DomainStartEndE-ValueType
Pfam:RPE65 15 532 1.4e-111 PFAM
Meta Mutation Damage Score 0.9606 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency 98% (107/109)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T C 7: 29,260,131 (GRCm39) noncoding transcript Het
4930568D16Rik A G 2: 35,244,995 (GRCm39) M119T probably damaging Het
Aadacl2 A G 3: 59,924,871 (GRCm39) probably null Het
Abca9 C T 11: 110,021,542 (GRCm39) W1056* probably null Het
Adam20 A C 8: 41,249,698 (GRCm39) T603P possibly damaging Het
Adgrl1 T C 8: 84,656,666 (GRCm39) L323P probably damaging Het
Afap1l2 C T 19: 56,904,638 (GRCm39) E628K possibly damaging Het
Ahctf1 A T 1: 179,580,580 (GRCm39) L1874Q possibly damaging Het
Ak8 A G 2: 28,602,333 (GRCm39) E89G probably benign Het
Aldh16a1 G A 7: 44,796,732 (GRCm39) R256C probably damaging Het
Anxa5 G A 3: 36,519,480 (GRCm39) T3M probably damaging Het
Arhgef16 T C 4: 154,372,443 (GRCm39) K210E probably benign Het
Baz2b T C 2: 59,836,480 (GRCm39) T18A unknown Het
Bub1 A C 2: 127,645,042 (GRCm39) I960M possibly damaging Het
Cbln2 G T 18: 86,731,272 (GRCm39) D27Y probably benign Het
Ces2h C A 8: 105,741,239 (GRCm39) P77Q possibly damaging Het
Cfap410 G T 10: 77,818,778 (GRCm39) A150S probably benign Het
Chga T A 12: 102,527,959 (GRCm39) M150K probably benign Het
Chmp3 A G 6: 71,554,791 (GRCm39) E162G probably benign Het
Clip3 A G 7: 29,996,861 (GRCm39) N161S probably damaging Het
Col12a1 T A 9: 79,511,867 (GRCm39) probably benign Het
Cuedc2 C T 19: 46,320,079 (GRCm39) G105D probably benign Het
Cyp2j7 A C 4: 96,087,627 (GRCm39) F428V probably damaging Het
Ddx60 A G 8: 62,427,210 (GRCm39) I762V possibly damaging Het
Def6 G A 17: 28,439,160 (GRCm39) R257Q probably benign Het
Dkkl1 A T 7: 44,860,819 (GRCm39) probably null Het
Dnah3 A G 7: 119,677,625 (GRCm39) L433P probably damaging Het
Eif2s3y C T Y: 1,011,287 (GRCm39) R33C probably benign Het
Elavl2 T A 4: 91,141,715 (GRCm39) Y269F probably damaging Het
Esco2 A G 14: 66,068,711 (GRCm39) S200P possibly damaging Het
Fcrl1 T A 3: 87,292,626 (GRCm39) probably benign Het
Fhod1 C A 8: 106,056,309 (GRCm39) D1135Y probably damaging Het
Fnbp1l T C 3: 122,383,796 (GRCm39) N41D possibly damaging Het
Folh1 A T 7: 86,410,907 (GRCm39) probably null Het
Fpr-rs7 T C 17: 20,334,277 (GRCm39) D71G probably damaging Het
Gm10271 A G 10: 116,797,844 (GRCm39) probably benign Het
Gm4841 A T 18: 60,404,020 (GRCm39) Y24* probably null Het
Greb1 G A 12: 16,740,895 (GRCm39) R1396C probably benign Het
Hectd1 C T 12: 51,800,590 (GRCm39) C2076Y probably damaging Het
Hnrnpu A G 1: 178,152,806 (GRCm39) probably benign Het
Ice2 T C 9: 69,322,930 (GRCm39) I475T probably benign Het
Ifit1bl1 T A 19: 34,571,593 (GRCm39) Q288L probably damaging Het
Ift56 T A 6: 38,386,411 (GRCm39) D377E possibly damaging Het
Ik T C 18: 36,889,871 (GRCm39) probably benign Het
Kidins220 C T 12: 25,063,445 (GRCm39) probably benign Het
Kmt2c T C 5: 25,577,972 (GRCm39) D768G probably benign Het
Kmt2e A G 5: 23,697,362 (GRCm39) T87A probably damaging Het
Lama5 G A 2: 179,837,274 (GRCm39) probably benign Het
Lmbr1l A G 15: 98,810,357 (GRCm39) S85P probably damaging Het
Lrig2 A G 3: 104,374,682 (GRCm39) probably benign Het
Lrig3 A G 10: 125,845,944 (GRCm39) D791G probably damaging Het
Lrrc2 G A 9: 110,809,908 (GRCm39) V315M probably benign Het
Lrrc4b A G 7: 44,111,823 (GRCm39) D565G probably benign Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Msrb2 T A 2: 19,388,114 (GRCm39) D87E probably benign Het
Muc20 T C 16: 32,614,511 (GRCm39) T289A possibly damaging Het
Myo15a C A 11: 60,369,238 (GRCm39) P666Q possibly damaging Het
Nfat5 C T 8: 108,088,421 (GRCm39) P579L probably damaging Het
Nipbl A C 15: 8,348,972 (GRCm39) M1920R probably damaging Het
Nuak1 T C 10: 84,210,738 (GRCm39) probably null Het
Nup210l A G 3: 90,096,793 (GRCm39) E1334G probably damaging Het
Odad2 A T 18: 7,127,388 (GRCm39) C942S probably damaging Het
Or52e8b A T 7: 104,673,370 (GRCm39) N272K probably benign Het
Or5an1c T A 19: 12,218,819 (GRCm39) I69F probably benign Het
Or6c6c T C 10: 129,541,574 (GRCm39) Y276H probably benign Het
Or9s13 G A 1: 92,548,342 (GRCm39) G238E possibly damaging Het
Or9s14 A T 1: 92,535,831 (GRCm39) N91Y possibly damaging Het
P4ha3 A T 7: 99,949,898 (GRCm39) probably null Het
Pbld2 C T 10: 62,890,150 (GRCm39) A186V probably benign Het
Pcdh18 A T 3: 49,710,083 (GRCm39) Y411N probably benign Het
Pgf A G 12: 85,218,541 (GRCm39) S70P probably benign Het
Phrf1 T A 7: 140,812,369 (GRCm39) D44E probably benign Het
Pla2g4a A G 1: 149,778,196 (GRCm39) probably benign Het
Plce1 A G 19: 38,769,234 (GRCm39) probably benign Het
Plxna2 A G 1: 194,493,278 (GRCm39) N1851S probably benign Het
Prl7a2 G A 13: 27,843,254 (GRCm39) T183I probably damaging Het
Prxl2b A T 4: 154,981,814 (GRCm39) V151D probably damaging Het
Ptger4 A T 15: 5,264,576 (GRCm39) L335H probably damaging Het
Ptgr1 A G 4: 58,984,865 (GRCm39) probably benign Het
Rdh7 A G 10: 127,720,590 (GRCm39) S261P probably benign Het
Reg3a A G 6: 78,360,269 (GRCm39) T150A probably benign Het
Rnf111 A G 9: 70,383,394 (GRCm39) S180P probably benign Het
Rnf17 A G 14: 56,759,856 (GRCm39) M1554V probably damaging Het
Rnf215 T A 11: 4,085,873 (GRCm39) Y117* probably null Het
Rnps1-ps A T 6: 7,983,124 (GRCm39) noncoding transcript Het
Rogdi T C 16: 4,828,369 (GRCm39) T165A probably benign Het
Scube1 A G 15: 83,494,405 (GRCm39) F844S probably damaging Het
Sdr16c6 T A 4: 4,058,814 (GRCm39) E257D probably benign Het
Sim1 C A 10: 50,857,649 (GRCm39) C466* probably null Het
Spi1 T A 2: 90,929,867 (GRCm39) H46Q probably damaging Het
Sumf2 C A 5: 129,873,909 (GRCm39) probably benign Het
Tbcb A G 7: 29,931,037 (GRCm39) Y28H probably benign Het
Tecta C T 9: 42,254,927 (GRCm39) C1752Y probably damaging Het
Tep1 T C 14: 51,067,079 (GRCm39) probably benign Het
Tmem245 A T 4: 56,903,968 (GRCm39) W591R probably damaging Het
Tnxb A G 17: 34,902,548 (GRCm39) I1134V probably benign Het
Trappc14 T C 5: 138,260,739 (GRCm39) probably null Het
Trim13 G T 14: 61,843,068 (GRCm39) A362S probably benign Het
Trim47 T A 11: 116,000,646 (GRCm39) D134V probably damaging Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vnn1 G T 10: 23,775,415 (GRCm39) A222S possibly damaging Het
Wdr17 A G 8: 55,143,249 (GRCm39) W110R probably damaging Het
Wwp1 G T 4: 19,627,892 (GRCm39) Y700* probably null Het
Zbtb21 T C 16: 97,751,785 (GRCm39) S661G probably benign Het
Zfp955b A G 17: 33,521,788 (GRCm39) K419R probably benign Het
Other mutations in Rpe65
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGCAGAAATTTAGTCACACTGCCCC -3'
(R):5'- AAGAATCTGGCTCTTGCCACATCC -3'

Sequencing Primer
(F):5'- TGCCACAGCCACTCTGC -3'
(R):5'- CATCCAGATTTCTTTAGTTTTGACG -3'
Posted On 2014-05-23