Incidental Mutation 'R0098:Rd3'
Institutional Source Beutler Lab
Gene Symbol Rd3
Ensembl Gene ENSMUSG00000049353
Gene Nameretinal degeneration 3
Synonymsrd3, rd-3
MMRRC Submission 038384-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0098 (G1)
Quality Score
Status Validated
Chromosomal Location191977370-191988283 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 191985300 bp
Amino Acid Change Methionine to Valine at position 244 (M244V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000175680] [ENSMUST00000180463] [ENSMUST00000181512]
Predicted Effect probably benign
Transcript: ENSMUST00000053463
AA Change: M244V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000050188
Gene: ENSMUSG00000049353
AA Change: M244V

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

Pfam:RD3 4 79 4.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180429
Predicted Effect probably benign
Transcript: ENSMUST00000180463
AA Change: M129V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000138049
Gene: ENSMUSG00000049353
AA Change: M129V

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

Pfam:RD3 4 79 4.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226862
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 88.1%
  • 10x: 82.9%
  • 20x: 75.6%
Validation Efficiency 93% (78/84)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A T 17: 35,896,417 probably benign Het
Acad9 T C 3: 36,073,540 I97T probably damaging Het
Adam32 T A 8: 24,914,389 Y200F possibly damaging Het
Adcy4 T C 14: 55,769,827 N976S possibly damaging Het
Adgrb2 C G 4: 130,007,831 P416R probably damaging Het
Alpk2 A G 18: 65,349,911 L342S probably damaging Het
Ambra1 T A 2: 91,767,711 H72Q possibly damaging Het
Ankrd10 T C 8: 11,612,560 H391R probably benign Het
Arfgef3 A G 10: 18,589,642 V2151A probably damaging Het
Atm T C 9: 53,518,569 D389G probably benign Het
Atp10b A T 11: 43,189,604 S236C probably benign Het
B3gat1 C T 9: 26,756,941 R276C probably damaging Het
Bcl9l C T 9: 44,505,617 P251S probably benign Het
Cdhr5 C A 7: 141,269,868 G331W probably damaging Het
Cmklr1 T C 5: 113,614,470 T157A probably benign Het
Cndp1 T A 18: 84,628,824 E246D probably damaging Het
Cntn4 A G 6: 106,618,424 probably benign Het
Crebbp A G 16: 4,091,928 L1078P probably damaging Het
Cyp20a1 G T 1: 60,387,254 E452* probably null Het
Emb T C 13: 117,267,498 V262A probably damaging Het
Ephb1 C T 9: 102,041,140 R390H probably damaging Het
Faf1 T C 4: 109,935,499 L556S probably damaging Het
Fat2 T C 11: 55,298,605 T1196A probably damaging Het
Fbf1 A T 11: 116,148,119 probably null Het
Gid8 T A 2: 180,714,735 I55N possibly damaging Het
Hexa T C 9: 59,558,100 Y213H probably damaging Het
Igf2bp1 T C 11: 95,973,163 K234E probably damaging Het
Ighv1-58 C T 12: 115,312,299 G73E probably benign Het
Kalrn A T 16: 33,975,619 I1262K possibly damaging Het
Lrp1 C T 10: 127,552,738 V3281I probably benign Het
Lrp2 T C 2: 69,475,412 D2935G probably damaging Het
Lypd6 T A 2: 50,190,780 V160E probably benign Het
Muc19 C T 15: 91,892,907 noncoding transcript Het
Nrxn3 A G 12: 89,260,201 D202G probably damaging Het
Nxn A T 11: 76,278,594 probably benign Het
Olfr1461 T A 19: 13,165,662 I216K probably benign Het
Palld C A 8: 61,525,086 G890V probably damaging Het
Pcx C A 19: 4,601,747 probably benign Het
Pik3c2g T C 6: 139,662,443 S416P unknown Het
Ppa2 C T 3: 133,370,473 probably benign Het
Ppp1r18 A G 17: 35,867,996 I254M probably benign Het
Prune2 A G 19: 17,123,903 E2257G possibly damaging Het
Rfx5 T A 3: 94,958,368 V326E probably damaging Het
Rgs3 G C 4: 62,625,906 R305P probably damaging Het
Rpp40 A G 13: 35,898,987 Y173H probably benign Het
Ryr3 T C 2: 112,901,031 N645D probably damaging Het
Sema3e T C 5: 14,252,432 V657A possibly damaging Het
Serpina3n T A 12: 104,413,518 V390E probably damaging Het
Shank1 A G 7: 44,313,285 Y141C unknown Het
Smg1 A T 7: 118,145,467 M3154K probably benign Het
Tdrd12 A G 7: 35,475,993 L996P probably damaging Het
Tfrc G T 16: 32,623,426 V490F probably damaging Het
Tie1 T C 4: 118,486,587 S53G probably benign Het
Topaz1 T C 9: 122,790,123 Y1262H possibly damaging Het
Ttc3 A T 16: 94,390,265 H222L probably benign Het
Ubxn8 T C 8: 33,635,365 probably benign Het
Unk A G 11: 116,050,169 Y252C probably damaging Het
Vwc2l A G 1: 70,729,131 Y71C probably damaging Het
Zfp386 T A 12: 116,059,214 L184* probably null Het
Other mutations in Rd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Rd3 APN 1 191985322 missense possibly damaging 0.84
IGL02319:Rd3 APN 1 191983491 missense probably null 1.00
R0098:Rd3 UTSW 1 191985300 missense probably benign 0.05
R0458:Rd3 UTSW 1 191977453 missense probably damaging 0.96
R0537:Rd3 UTSW 1 191983540 missense probably damaging 1.00
R0991:Rd3 UTSW 1 191985238 missense probably damaging 0.98
R1344:Rd3 UTSW 1 191985301 makesense probably null
R2168:Rd3 UTSW 1 191983527 missense probably damaging 0.97
R3898:Rd3 UTSW 1 191985256 missense probably damaging 1.00
R3899:Rd3 UTSW 1 191985256 missense probably damaging 1.00
R3900:Rd3 UTSW 1 191985256 missense probably damaging 1.00
R5870:Rd3 UTSW 1 191985300 missense probably benign 0.00
R8047:Rd3 UTSW 1 191977659 start gained probably benign
R8506:Rd3 UTSW 1 191983267 start codon destroyed probably null 0.98
Posted On2013-03-25