Incidental Mutation 'IGL03356:Rpe65'
ID 419954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpe65
Ensembl Gene ENSMUSG00000028174
Gene Name retinal pigment epithelium 65
Synonyms A930029L06Rik, Mord1, rd12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock # IGL03356
Quality Score
Status
Chromosome 3
Chromosomal Location 159599175-159625321 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 159615577 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 342 (Y342F)
Ref Sequence ENSEMBL: ENSMUSP00000143654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029824] [ENSMUST00000196999]
AlphaFold Q91ZQ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000029824
AA Change: Y342F

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: Y342F

DomainStartEndE-ValueType
Pfam:RPE65 15 532 1.4e-111 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196999
AA Change: Y342F

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: Y342F

DomainStartEndE-ValueType
Pfam:RPE65 15 532 1.4e-111 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930467E23Rik A G 8: 19,749,447 I304V probably benign Het
A1bg A C 15: 60,919,888 M233R probably benign Het
Aadat T C 8: 60,531,691 M256T probably damaging Het
Adamts16 T C 13: 70,753,291 N889S probably benign Het
Camkk2 A T 5: 122,743,874 I235N probably damaging Het
Card6 C T 15: 5,100,241 A558T probably benign Het
Ccdc105 A G 10: 78,747,132 C473R possibly damaging Het
Ccdc175 T G 12: 72,139,893 probably null Het
Crot A G 5: 8,988,295 probably benign Het
Cyp2c67 A G 19: 39,639,961 S180P probably damaging Het
Ddx55 A G 5: 124,554,753 N81S possibly damaging Het
Dennd3 C T 15: 73,568,633 T1171M probably benign Het
Dnah7a T C 1: 53,503,934 D2359G probably benign Het
Dpp8 T A 9: 65,045,787 N248K probably benign Het
Ganc T C 2: 120,435,288 I439T probably benign Het
Gdpgp1 T C 7: 80,238,695 I158T possibly damaging Het
Grm3 T C 5: 9,512,206 D548G possibly damaging Het
H2-DMb1 T A 17: 34,157,540 probably benign Het
Hecw2 A G 1: 53,927,058 probably benign Het
Hs3st2 A G 7: 121,393,166 E113G probably damaging Het
Hspa4 C A 11: 53,269,800 R483L probably damaging Het
Ik C A 18: 36,756,604 S490R probably damaging Het
Ldlrad1 G A 4: 107,214,838 V86M possibly damaging Het
Mfsd4b1 A C 10: 40,002,831 F357V probably damaging Het
Ndufa9 A G 6: 126,844,850 V54A possibly damaging Het
Nfe2l2 A G 2: 75,679,200 I92T probably benign Het
Oas1a A G 5: 120,905,845 S75P probably damaging Het
Oca2 T G 7: 56,535,968 M814R probably benign Het
Phlpp2 A G 8: 109,935,617 T879A probably benign Het
Satb2 T C 1: 56,891,174 K230R probably damaging Het
Slc4a4 A G 5: 89,122,483 T297A probably benign Het
Slpi T C 2: 164,356,209 T22A probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Synj1 A G 16: 90,987,392 F286S probably damaging Het
Tigd2 T A 6: 59,211,705 I519K probably benign Het
Tyr G T 7: 87,492,714 L136I possibly damaging Het
Vmn1r34 A T 6: 66,636,986 M256K probably benign Het
Zmym2 T A 14: 56,957,060 C1258* probably null Het
Other mutations in Rpe65
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Rpe65 APN 3 159614542 missense probably damaging 0.99
IGL01446:Rpe65 APN 3 159600405 splice site probably benign
IGL01815:Rpe65 APN 3 159604530 splice site probably null
IGL02085:Rpe65 APN 3 159615646 missense probably benign 0.00
IGL02232:Rpe65 APN 3 159604351 missense possibly damaging 0.93
IGL02248:Rpe65 APN 3 159624705 missense probably damaging 1.00
IGL02645:Rpe65 APN 3 159606491 missense probably damaging 0.99
IGL02711:Rpe65 APN 3 159622877 missense possibly damaging 0.84
IGL02982:Rpe65 APN 3 159600361 missense probably damaging 0.99
IGL03280:Rpe65 APN 3 159604341 missense probably damaging 0.96
IGL03350:Rpe65 APN 3 159614517 missense possibly damaging 0.75
I1329:Rpe65 UTSW 3 159624723 missense probably benign 0.35
R0571:Rpe65 UTSW 3 159600349 missense probably damaging 1.00
R0905:Rpe65 UTSW 3 159601583 missense possibly damaging 0.95
R1024:Rpe65 UTSW 3 159606485 missense probably benign 0.07
R1597:Rpe65 UTSW 3 159614784 missense probably damaging 0.97
R1657:Rpe65 UTSW 3 159614448 missense probably damaging 0.97
R1778:Rpe65 UTSW 3 159622848 missense probably damaging 1.00
R1970:Rpe65 UTSW 3 159615670 missense probably benign
R2259:Rpe65 UTSW 3 159615571 missense probably damaging 1.00
R3012:Rpe65 UTSW 3 159604563 missense possibly damaging 0.61
R3923:Rpe65 UTSW 3 159604400 missense probably benign 0.16
R3975:Rpe65 UTSW 3 159604585 missense probably damaging 1.00
R4204:Rpe65 UTSW 3 159604410 missense probably damaging 0.99
R4825:Rpe65 UTSW 3 159624681 missense probably benign
R4924:Rpe65 UTSW 3 159622631 missense probably benign 0.01
R5269:Rpe65 UTSW 3 159604347 missense probably benign 0.07
R5324:Rpe65 UTSW 3 159604404 missense possibly damaging 0.94
R5441:Rpe65 UTSW 3 159604401 missense probably damaging 1.00
R5854:Rpe65 UTSW 3 159615676 missense probably benign
R5907:Rpe65 UTSW 3 159615682 critical splice donor site probably null
R6149:Rpe65 UTSW 3 159614143 missense probably benign
R6660:Rpe65 UTSW 3 159614708 missense probably damaging 0.98
R6830:Rpe65 UTSW 3 159614168 missense probably benign 0.06
R7025:Rpe65 UTSW 3 159622685 missense probably damaging 1.00
R7092:Rpe65 UTSW 3 159615591 missense probably damaging 1.00
R7203:Rpe65 UTSW 3 159622854 missense probably damaging 0.99
R7366:Rpe65 UTSW 3 159624729 missense probably benign 0.13
R7537:Rpe65 UTSW 3 159604609 missense probably damaging 0.98
R7679:Rpe65 UTSW 3 159604393 missense probably damaging 1.00
R8044:Rpe65 UTSW 3 159614705 missense probably benign
R8179:Rpe65 UTSW 3 159624699 missense probably benign 0.06
R8409:Rpe65 UTSW 3 159614148 missense probably benign 0.01
R8558:Rpe65 UTSW 3 159614792 missense probably damaging 1.00
R9042:Rpe65 UTSW 3 159615655 missense probably damaging 1.00
R9483:Rpe65 UTSW 3 159622681 missense probably damaging 1.00
Posted On 2016-08-02