Incidental Mutation 'R8047:Rd3'
ID 618793
Institutional Source Beutler Lab
Gene Symbol Rd3
Ensembl Gene ENSMUSG00000049353
Gene Name retinal degeneration 3
Synonyms 3322402L07Rik, rd-3, rd3
MMRRC Submission 067484-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8047 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 191709331-191720244 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to T at 191709620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000175680] [ENSMUST00000180463] [ENSMUST00000181512]
AlphaFold Q8BRE0
Predicted Effect probably benign
Transcript: ENSMUST00000175680
SMART Domains Protein: ENSMUSP00000135650
Gene: ENSMUSG00000049353

DomainStartEndE-ValueType
Pfam:RD3 4 79 4.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180463
SMART Domains Protein: ENSMUSP00000138049
Gene: ENSMUSG00000049353

DomainStartEndE-ValueType
Pfam:RD3 4 134 2.2e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181512
SMART Domains Protein: ENSMUSP00000137756
Gene: ENSMUSG00000049353

DomainStartEndE-ValueType
Pfam:RD3 4 79 4.7e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit retinal degeneration, beginning at 3 weeks of age, characterized by complete loss of photoreceptor rod cells by 5 weeks, and cones by 8 weeks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 G A 8: 80,427,817 (GRCm39) T157I possibly damaging Het
Cd200l2 T C 16: 45,340,829 (GRCm39) I245V probably benign Het
Cdh22 G A 2: 165,012,687 (GRCm39) R133W probably damaging Het
Cep152 A T 2: 125,406,247 (GRCm39) N1428K probably benign Het
Clstn3 T A 6: 124,408,972 (GRCm39) D892V possibly damaging Het
Coch G A 12: 51,650,496 (GRCm39) probably null Het
D6Ertd527e G T 6: 87,088,454 (GRCm39) V206F unknown Het
Dnaaf9 A T 2: 130,617,019 (GRCm39) V439E probably damaging Het
Dock3 T C 9: 106,870,208 (GRCm39) I625M possibly damaging Het
Dpy19l4 A G 4: 11,317,139 (GRCm39) S20P probably benign Het
Eef1e1 T C 13: 38,830,222 (GRCm39) Q150R probably damaging Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Engase T C 11: 118,377,282 (GRCm39) S526P probably benign Het
Fbxo40 T A 16: 36,790,231 (GRCm39) D293V probably damaging Het
Gipc3 T A 10: 81,177,132 (GRCm39) N146I probably damaging Het
Gm11569 T C 11: 99,689,616 (GRCm39) T28A unknown Het
Gm43302 T C 5: 105,422,623 (GRCm39) I470V possibly damaging Het
Gpihbp1 A G 15: 75,469,627 (GRCm39) Q114R possibly damaging Het
Grhl2 T A 15: 37,336,465 (GRCm39) M454K probably benign Het
Gsap A T 5: 21,462,866 (GRCm39) probably null Het
Ighv6-5 T C 12: 114,380,191 (GRCm39) probably null Het
Kif1b C A 4: 149,299,379 (GRCm39) V1010L probably damaging Het
Krt8 A T 15: 101,912,406 (GRCm39) I90N probably damaging Het
Lrrc69 A T 4: 14,773,726 (GRCm39) I110N probably benign Het
Lta T C 17: 35,423,011 (GRCm39) Y104C probably damaging Het
Madd A G 2: 91,009,546 (GRCm39) Y13H probably damaging Het
Mccc2 C T 13: 100,091,181 (GRCm39) V439I probably benign Het
Mecom T A 3: 30,292,404 (GRCm39) D35V Het
Msra C T 14: 64,522,612 (GRCm39) A76T probably damaging Het
Myo18b G T 5: 112,871,681 (GRCm39) D2133E possibly damaging Het
Ncapd2 C T 6: 125,166,762 (GRCm39) V31M probably damaging Het
Npc1 A G 18: 12,346,374 (GRCm39) V274A probably benign Het
Or5m11b T C 2: 85,806,271 (GRCm39) I228T possibly damaging Het
Patz1 C T 11: 3,256,283 (GRCm39) P523L probably benign Het
Pbx2 T C 17: 34,814,262 (GRCm39) S350P probably benign Het
Plk4 T C 3: 40,760,187 (GRCm39) I361T probably benign Het
Ppat G T 5: 77,073,557 (GRCm39) N122K probably damaging Het
Prss23 T A 7: 89,159,136 (GRCm39) Q311L probably damaging Het
Psg26 G T 7: 18,212,474 (GRCm39) Q294K possibly damaging Het
Rab3il1 G T 19: 10,011,166 (GRCm39) R285L probably benign Het
Radil A G 5: 142,480,695 (GRCm39) C587R probably damaging Het
Reck T C 4: 43,927,221 (GRCm39) L504P probably damaging Het
Rmc1 C T 18: 12,313,586 (GRCm39) T233M possibly damaging Het
Selenov A C 7: 27,990,108 (GRCm39) L132R probably benign Het
Spag16 A T 1: 69,882,155 (GRCm39) D49V probably damaging Het
Ston2 C T 12: 91,608,617 (GRCm39) V828I probably damaging Het
Tiam1 A G 16: 89,694,672 (GRCm39) S262P probably benign Het
Tlnrd1 A T 7: 83,532,069 (GRCm39) S121T probably damaging Het
Unc13c T A 9: 73,719,636 (GRCm39) K1011* probably null Het
Vmn2r89 T A 14: 51,692,549 (GRCm39) D117E probably benign Het
Zbtb7c A C 18: 76,270,221 (GRCm39) N103T probably damaging Het
Zfp764 T C 7: 127,005,412 (GRCm39) E75G probably damaging Het
Other mutations in Rd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Rd3 APN 1 191,717,283 (GRCm39) missense possibly damaging 0.84
IGL02319:Rd3 APN 1 191,715,452 (GRCm39) missense probably null 1.00
R0098:Rd3 UTSW 1 191,717,261 (GRCm39) missense probably benign 0.05
R0098:Rd3 UTSW 1 191,717,261 (GRCm39) missense probably benign 0.05
R0458:Rd3 UTSW 1 191,709,414 (GRCm39) missense probably damaging 0.96
R0537:Rd3 UTSW 1 191,715,501 (GRCm39) missense probably damaging 1.00
R0991:Rd3 UTSW 1 191,717,199 (GRCm39) missense probably damaging 0.98
R1344:Rd3 UTSW 1 191,717,262 (GRCm39) makesense probably null
R2168:Rd3 UTSW 1 191,715,488 (GRCm39) missense probably damaging 0.97
R3898:Rd3 UTSW 1 191,717,217 (GRCm39) missense probably damaging 1.00
R3899:Rd3 UTSW 1 191,717,217 (GRCm39) missense probably damaging 1.00
R3900:Rd3 UTSW 1 191,717,217 (GRCm39) missense probably damaging 1.00
R5870:Rd3 UTSW 1 191,717,261 (GRCm39) missense probably benign 0.00
R8506:Rd3 UTSW 1 191,715,228 (GRCm39) start codon destroyed probably null 0.98
R9541:Rd3 UTSW 1 191,717,294 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TGGTGCCTCCAGTACAACTTC -3'
(R):5'- TCTGCTCATCTTTGACCAGTGAG -3'

Sequencing Primer
(F):5'- GTGCCTCCAGTACAACTTCTCAAAG -3'
(R):5'- CTCATCTTTGACCAGTGAGGATTGAG -3'
Posted On 2020-01-23