Incidental Mutation 'IGL01520:Rd3'
ID 90472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rd3
Ensembl Gene ENSMUSG00000049353
Gene Name retinal degeneration 3
Synonyms 3322402L07Rik, rd-3, rd3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01520
Quality Score
Status
Chromosome 1
Chromosomal Location 191709331-191720244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 191717283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 251 (H251L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000175680] [ENSMUST00000180463] [ENSMUST00000181512]
AlphaFold Q8BRE0
Predicted Effect possibly damaging
Transcript: ENSMUST00000053463
AA Change: H251L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050188
Gene: ENSMUSG00000049353
AA Change: H251L

DomainStartEndE-ValueType
Pfam:RD3 120 248 3.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175680
SMART Domains Protein: ENSMUSP00000135650
Gene: ENSMUSG00000049353

DomainStartEndE-ValueType
Pfam:RD3 4 79 4.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180429
Predicted Effect probably benign
Transcript: ENSMUST00000180463
AA Change: H136L

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138049
Gene: ENSMUSG00000049353
AA Change: H136L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226862
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 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,734,318 (GRCm39) H58Q probably damaging Het
Atp6v1c2 A T 12: 17,347,754 (GRCm39) L149Q probably damaging Het
Bltp1 T A 3: 37,027,409 (GRCm39) Y2265* probably null Het
Cd40lg A G X: 56,265,148 (GRCm39) N132D probably benign Het
Cemip G T 7: 83,597,830 (GRCm39) T1060K probably benign Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Ces5a A T 8: 94,246,206 (GRCm39) S328T probably benign Het
Cfap70 A G 14: 20,470,755 (GRCm39) C497R probably benign Het
Cndp2 T C 18: 84,686,732 (GRCm39) K430R probably benign Het
Cplane1 C A 15: 8,251,395 (GRCm39) T1889K probably damaging Het
Crlf3 T C 11: 79,950,972 (GRCm39) D126G probably benign Het
Cxcr1 A T 1: 74,231,434 (GRCm39) L196Q probably damaging Het
E330013P04Rik A G 19: 60,150,329 (GRCm39) noncoding transcript Het
Erbb2 C T 11: 98,324,835 (GRCm39) H810Y probably benign Het
Fmn1 C A 2: 113,274,713 (GRCm39) probably benign Het
Fpr3 A G 17: 18,191,325 (GRCm39) T199A possibly damaging Het
Gcsh A G 8: 117,710,688 (GRCm39) probably benign Het
Gm10073 T A 8: 107,299,901 (GRCm39) I28F probably benign Het
Gucy1a2 C A 9: 3,759,561 (GRCm39) Q456K probably damaging Het
Hgs C A 11: 120,369,174 (GRCm39) P317T probably damaging Het
Inmt C A 6: 55,148,213 (GRCm39) V139F probably damaging Het
Kcnma1 C A 14: 23,551,211 (GRCm39) M460I possibly damaging Het
Map9 A T 3: 82,286,272 (GRCm39) N359I probably damaging Het
Mavs T C 2: 131,087,263 (GRCm39) S254P probably benign Het
Mcts1 T A X: 37,700,636 (GRCm39) probably benign Het
Mecp2 C A X: 73,079,447 (GRCm39) R344L possibly damaging Het
Or1e32 T G 11: 73,705,612 (GRCm39) T99P probably damaging Het
Or4z4 A G 19: 12,077,000 (GRCm39) M1T probably null Het
Or5b3 G T 19: 13,388,114 (GRCm39) M60I probably damaging Het
Or8g36 T C 9: 39,422,342 (GRCm39) I225V possibly damaging Het
Or8g54 T G 9: 39,706,674 (GRCm39) M1R probably null Het
Or9g4 T C 2: 85,504,701 (GRCm39) T265A probably benign Het
Rasgrp1 T C 2: 117,119,144 (GRCm39) I498V probably damaging Het
Rbbp6 T A 7: 122,584,898 (GRCm39) S185T possibly damaging Het
Rnf180 T A 13: 105,386,864 (GRCm39) D148V probably damaging Het
Rnf43 C A 11: 87,555,542 (GRCm39) A34E probably damaging Het
Rslcan18 A G 13: 67,250,172 (GRCm39) V21A probably benign Het
Septin9 T C 11: 117,243,469 (GRCm39) V128A probably damaging Het
Slc36a1 A G 11: 55,110,482 (GRCm39) H103R probably benign Het
Spata6l A T 19: 28,873,532 (GRCm39) probably null Het
Ssh2 A G 11: 77,340,732 (GRCm39) D628G probably damaging Het
Tlcd3a T C 11: 76,098,051 (GRCm39) probably null Het
Tmem119 A G 5: 113,933,546 (GRCm39) F85S probably damaging Het
Tpp1 A T 7: 105,396,936 (GRCm39) I398N probably benign Het
Ttc3 T C 16: 94,191,066 (GRCm39) Y203H probably benign Het
Vars1 G T 17: 35,232,849 (GRCm39) V898L probably benign Het
Vmn1r85 A C 7: 12,819,081 (GRCm39) V21G probably damaging Het
Zfp521 T C 18: 14,072,045 (GRCm39) H65R possibly damaging Het
Other mutations in Rd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8047:Rd3 UTSW 1 191,709,620 (GRCm39) start gained probably benign
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
Posted On 2013-12-09