Incidental Mutation 'IGL02645:Rpe65'
ID 301918
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpe65
Ensembl Gene ENSMUSG00000028174
Gene Name retinal pigment epithelium 65
Synonyms rd12, Mord1, A930029L06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # IGL02645
Quality Score
Chromosome 3
Chromosomal Location 159304812-159330958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 159312128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 209 (I209N)
Ref Sequence ENSEMBL: ENSMUSP00000143654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029824] [ENSMUST00000196999] [ENSMUST00000197771]
AlphaFold Q91ZQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000029824
AA Change: I209N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: I209N

Pfam:RPE65 15 532 1.4e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196999
AA Change: I209N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: I209N

Pfam:RPE65 15 532 1.4e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197771
SMART Domains Protein: ENSMUSP00000143390
Gene: ENSMUSG00000028174

Pfam:RPE65 13 109 5.8e-19 PFAM
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,804 (GRCm39) Y48C probably damaging Het
Aox1 T A 1: 58,373,883 (GRCm39) M848K probably damaging Het
Apol7c A T 15: 77,413,083 (GRCm39) S56T probably benign Het
Asic4 G A 1: 75,449,998 (GRCm39) probably benign Het
Asxl1 A G 2: 153,234,777 (GRCm39) K162R possibly damaging Het
Car12 T A 9: 66,654,961 (GRCm39) H130Q probably benign Het
Cars1 T C 7: 143,111,646 (GRCm39) E737G probably damaging Het
Ccdc141 G A 2: 76,905,211 (GRCm39) R412* probably null Het
Cd36 T C 5: 17,990,878 (GRCm39) T421A probably benign Het
Clasp2 T G 9: 113,719,129 (GRCm39) M758R probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Ebf4 A G 2: 130,203,761 (GRCm39) K471E probably damaging Het
Fat2 T A 11: 55,173,654 (GRCm39) D2353V probably damaging Het
Gm10136 A G 19: 28,981,140 (GRCm39) probably benign Het
Intu A G 3: 40,655,702 (GRCm39) I930V probably benign Het
Ndrg2 T A 14: 52,143,979 (GRCm39) M300L possibly damaging Het
Nhs A G X: 160,942,054 (GRCm39) S111P probably benign Het
Nme8 T A 13: 19,844,755 (GRCm39) L111F probably damaging Het
Nol8 T A 13: 49,818,947 (GRCm39) probably null Het
Or10g1b T A 14: 52,627,958 (GRCm39) T91S possibly damaging Het
Or12e13 C T 2: 87,663,959 (GRCm39) T192M probably benign Het
Or4a76 T C 2: 89,460,679 (GRCm39) T188A probably benign Het
Or4c116 T C 2: 88,941,963 (GRCm39) R298G probably benign Het
Pcdhac2 G A 18: 37,278,292 (GRCm39) G424D probably damaging Het
Pex3 T G 10: 13,422,173 (GRCm39) E42D possibly damaging Het
Plxnb1 C T 9: 108,943,311 (GRCm39) probably benign Het
Rsl1 T A 13: 67,330,273 (GRCm39) F240L probably benign Het
Rttn A T 18: 89,128,810 (GRCm39) I1921F probably benign Het
Scn3a A T 2: 65,344,871 (GRCm39) F539Y probably benign Het
Secisbp2 T A 13: 51,836,496 (GRCm39) M767K probably damaging Het
Sipa1l3 C T 7: 29,028,405 (GRCm39) probably null Het
Slfn8 T C 11: 82,894,380 (GRCm39) N753S possibly damaging Het
Spmip6 A G 4: 41,517,080 (GRCm39) V28A probably damaging Het
Sympk T G 7: 18,786,349 (GRCm39) V984G probably damaging Het
Tacr3 A T 3: 134,566,943 (GRCm39) D272V possibly damaging Het
Timd6 A G 11: 46,477,047 (GRCm39) R167G probably benign Het
Tnpo3 G T 6: 29,562,899 (GRCm39) S606* probably null Het
Zfp804a T C 2: 81,884,220 (GRCm39) L29P possibly damaging Het
Zfp94 C T 7: 24,003,179 (GRCm39) G88R 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
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
R9483:Rpe65 UTSW 3 159,328,318 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16