Incidental Mutation 'IGL03350:Rpe65'
ID 419657
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
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # IGL03350
Quality Score
Chromosome 3
Chromosomal Location 159599175-159625321 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 159614517 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 269 (S269C)
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: S269C

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029824
Gene: ENSMUSG00000028174
AA Change: S269C

Pfam:RPE65 15 532 1.4e-111 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196999
AA Change: S269C

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143654
Gene: ENSMUSG00000028174
AA Change: S269C

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik C A 6: 129,331,023 (GRCm38) V28L probably benign Het
Adam26a A T 8: 43,569,552 (GRCm38) Y300* probably null Het
Adgre1 T A 17: 57,401,908 (GRCm38) V33E probably benign Het
AI987944 A G 7: 41,393,237 (GRCm38) probably benign Het
Atp4a T C 7: 30,720,867 (GRCm38) L813P probably damaging Het
Blmh A G 11: 76,971,948 (GRCm38) N396D probably damaging Het
Brat1 T C 5: 140,705,995 (GRCm38) L9P probably damaging Het
Ccdc171 T C 4: 83,681,378 (GRCm38) I810T possibly damaging Het
Cyp2a22 T C 7: 26,934,854 (GRCm38) T292A possibly damaging Het
Ecm2 C T 13: 49,520,944 (GRCm38) T280I probably benign Het
Fa2h C T 8: 111,349,296 (GRCm38) V232I probably benign Het
Fbxw24 T C 9: 109,607,013 (GRCm38) D317G probably damaging Het
Flt4 C A 11: 49,634,793 (GRCm38) S722* probably null Het
Fryl T C 5: 73,133,306 (GRCm38) Q85R probably damaging Het
Gm3239 A G 14: 4,667,115 (GRCm38) R188G possibly damaging Het
Hspa13 A T 16: 75,757,829 (GRCm38) S456R probably damaging Het
Htr1b T C 9: 81,632,122 (GRCm38) Y144C probably damaging Het
Hydin A G 8: 110,312,224 (GRCm38) H198R possibly damaging Het
Krt78 A T 15: 101,946,517 (GRCm38) M953K probably benign Het
Lgr5 G T 10: 115,471,988 (GRCm38) T255K probably damaging Het
Lrp2 T A 2: 69,438,453 (GRCm38) D4162V probably damaging Het
Map3k2 A G 18: 32,212,148 (GRCm38) D342G probably damaging Het
Miip A G 4: 147,862,522 (GRCm38) V258A probably benign Het
Muc6 T C 7: 141,652,059 (GRCm38) H52R probably damaging Het
Nfs1 T C 2: 156,127,740 (GRCm38) E329G probably benign Het
Npsr1 T C 9: 24,098,309 (GRCm38) V37A probably benign Het
Olfr1107 A C 2: 87,071,560 (GRCm38) D191E probably damaging Het
Olfr23 A T 11: 73,940,838 (GRCm38) L197F probably damaging Het
Olfr356 T C 2: 36,937,583 (GRCm38) Y155H probably damaging Het
Pex16 T A 2: 92,377,497 (GRCm38) M98K probably damaging Het
Pla2r1 C T 2: 60,455,173 (GRCm38) C699Y probably damaging Het
Plcd4 A T 1: 74,549,301 (GRCm38) D103V probably damaging Het
Pnpla1 A G 17: 28,876,992 (GRCm38) D129G probably damaging Het
Rad23a T C 8: 84,837,479 (GRCm38) E265G possibly damaging Het
Rbm11 C T 16: 75,600,808 (GRCm38) P209S probably benign Het
Ribc2 T A 15: 85,135,502 (GRCm38) W162R probably damaging Het
Rnf4 A G 5: 34,346,860 (GRCm38) E32G possibly damaging Het
Slc7a14 T A 3: 31,237,409 (GRCm38) Y240F probably benign Het
Sorbs2 C T 8: 45,805,807 (GRCm38) P1047L probably damaging Het
Ttn T C 2: 76,749,822 (GRCm38) I23576V probably damaging Het
Usp24 T G 4: 106,371,079 (GRCm38) Y780* probably null Het
Wee2 T C 6: 40,449,731 (GRCm38) S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 (GRCm38) T126A probably benign Het
Zpld1 A G 16: 55,241,329 (GRCm38) probably benign Het
Zufsp G A 10: 33,928,111 (GRCm38) R456C probably benign Het
Other mutations in Rpe65
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Rpe65 APN 3 159,614,542 (GRCm38) missense probably damaging 0.99
IGL01446:Rpe65 APN 3 159,600,405 (GRCm38) splice site probably benign
IGL01815:Rpe65 APN 3 159,604,530 (GRCm38) splice site probably null
IGL02085:Rpe65 APN 3 159,615,646 (GRCm38) missense probably benign 0.00
IGL02232:Rpe65 APN 3 159,604,351 (GRCm38) missense possibly damaging 0.93
IGL02248:Rpe65 APN 3 159,624,705 (GRCm38) missense probably damaging 1.00
IGL02645:Rpe65 APN 3 159,606,491 (GRCm38) missense probably damaging 0.99
IGL02711:Rpe65 APN 3 159,622,877 (GRCm38) missense possibly damaging 0.84
IGL02982:Rpe65 APN 3 159,600,361 (GRCm38) missense probably damaging 0.99
IGL03280:Rpe65 APN 3 159,604,341 (GRCm38) missense probably damaging 0.96
IGL03356:Rpe65 APN 3 159,615,577 (GRCm38) missense possibly damaging 0.89
I1329:Rpe65 UTSW 3 159,624,723 (GRCm38) missense probably benign 0.35
R0571:Rpe65 UTSW 3 159,600,349 (GRCm38) missense probably damaging 1.00
R0905:Rpe65 UTSW 3 159,601,583 (GRCm38) missense possibly damaging 0.95
R1024:Rpe65 UTSW 3 159,606,485 (GRCm38) missense probably benign 0.07
R1597:Rpe65 UTSW 3 159,614,784 (GRCm38) missense probably damaging 0.97
R1657:Rpe65 UTSW 3 159,614,448 (GRCm38) missense probably damaging 0.97
R1778:Rpe65 UTSW 3 159,622,848 (GRCm38) missense probably damaging 1.00
R1970:Rpe65 UTSW 3 159,615,670 (GRCm38) missense probably benign
R2259:Rpe65 UTSW 3 159,615,571 (GRCm38) missense probably damaging 1.00
R3012:Rpe65 UTSW 3 159,604,563 (GRCm38) missense possibly damaging 0.61
R3923:Rpe65 UTSW 3 159,604,400 (GRCm38) missense probably benign 0.16
R3975:Rpe65 UTSW 3 159,604,585 (GRCm38) missense probably damaging 1.00
R4204:Rpe65 UTSW 3 159,604,410 (GRCm38) missense probably damaging 0.99
R4825:Rpe65 UTSW 3 159,624,681 (GRCm38) missense probably benign
R4924:Rpe65 UTSW 3 159,622,631 (GRCm38) missense probably benign 0.01
R5269:Rpe65 UTSW 3 159,604,347 (GRCm38) missense probably benign 0.07
R5324:Rpe65 UTSW 3 159,604,404 (GRCm38) missense possibly damaging 0.94
R5441:Rpe65 UTSW 3 159,604,401 (GRCm38) missense probably damaging 1.00
R5854:Rpe65 UTSW 3 159,615,676 (GRCm38) missense probably benign
R5907:Rpe65 UTSW 3 159,615,682 (GRCm38) critical splice donor site probably null
R6149:Rpe65 UTSW 3 159,614,143 (GRCm38) missense probably benign
R6660:Rpe65 UTSW 3 159,614,708 (GRCm38) missense probably damaging 0.98
R6830:Rpe65 UTSW 3 159,614,168 (GRCm38) missense probably benign 0.06
R7025:Rpe65 UTSW 3 159,622,685 (GRCm38) missense probably damaging 1.00
R7092:Rpe65 UTSW 3 159,615,591 (GRCm38) missense probably damaging 1.00
R7203:Rpe65 UTSW 3 159,622,854 (GRCm38) missense probably damaging 0.99
R7366:Rpe65 UTSW 3 159,624,729 (GRCm38) missense probably benign 0.13
R7537:Rpe65 UTSW 3 159,604,609 (GRCm38) missense probably damaging 0.98
R7679:Rpe65 UTSW 3 159,604,393 (GRCm38) missense probably damaging 1.00
R8044:Rpe65 UTSW 3 159,614,705 (GRCm38) missense probably benign
R8179:Rpe65 UTSW 3 159,624,699 (GRCm38) missense probably benign 0.06
R8409:Rpe65 UTSW 3 159,614,148 (GRCm38) missense probably benign 0.01
R8558:Rpe65 UTSW 3 159,614,792 (GRCm38) missense probably damaging 1.00
R9042:Rpe65 UTSW 3 159,615,655 (GRCm38) missense probably damaging 1.00
R9483:Rpe65 UTSW 3 159,622,681 (GRCm38) missense probably damaging 1.00
Posted On 2016-08-02