Incidental Mutation 'R6949:Rdh8'
ID 543246
Institutional Source Beutler Lab
Gene Symbol Rdh8
Ensembl Gene ENSMUSG00000053773
Gene Name retinol dehydrogenase 8
Synonyms prRDH, LOC235033
MMRRC Submission 045061-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6949 (G1)
Quality Score 157.009
Status Validated
Chromosome 9
Chromosomal Location 20729799-20737413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20734003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 63 (V63D)
Ref Sequence ENSEMBL: ENSMUSP00000067662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066387]
AlphaFold D3Z6W3
Predicted Effect probably benign
Transcript: ENSMUST00000066387
AA Change: V63D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000067662
Gene: ENSMUSG00000053773
AA Change: V63D

DomainStartEndE-ValueType
Pfam:KR 6 179 3.4e-13 PFAM
Pfam:adh_short 6 202 9.1e-46 PFAM
Pfam:adh_short_C2 12 206 9.5e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 95.1%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous null mice are viable and fertile but display delayed dark adaptation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 G T 3: 126,804,533 (GRCm39) D679E probably benign Het
Catsper4 A T 4: 133,953,058 (GRCm39) Y96N probably benign Het
Cnksr3 T C 10: 7,110,757 (GRCm39) I35V probably benign Het
Col16a1 A G 4: 129,953,116 (GRCm39) E424G probably damaging Het
Ctsc G T 7: 87,930,666 (GRCm39) G82W probably damaging Het
Cxcr4 T C 1: 128,517,352 (GRCm39) D101G probably benign Het
Dapk1 T A 13: 60,884,138 (GRCm39) N635K probably benign Het
Dop1a T C 9: 86,382,913 (GRCm39) M282T probably damaging Het
Dpysl4 G A 7: 138,671,915 (GRCm39) E172K probably damaging Het
Efcab3 A C 11: 104,799,896 (GRCm39) T2931P probably damaging Het
Eif2ak3 T C 6: 70,855,829 (GRCm39) I211T probably damaging Het
Fbxw22 A T 9: 109,211,144 (GRCm39) W386R probably benign Het
Garin1b T A 6: 29,323,905 (GRCm39) I210N probably damaging Het
Grm7 A G 6: 110,623,265 (GRCm39) K146R probably benign Het
Grm7 C A 6: 111,472,690 (GRCm39) P843Q probably damaging Het
Gtf2e2 A G 8: 34,248,726 (GRCm39) D171G probably damaging Het
Hyal5 T C 6: 24,876,303 (GRCm39) S59P probably benign Het
Il7r T A 15: 9,508,090 (GRCm39) T411S probably damaging Het
Kcp T A 6: 29,484,611 (GRCm39) probably null Het
Krcc1 T C 6: 71,261,135 (GRCm39) Y56H probably benign Het
Lmo2 T A 2: 103,801,018 (GRCm39) M1K probably null Het
Lrit3 G A 3: 129,582,934 (GRCm39) T351I probably damaging Het
Mcu T G 10: 59,292,566 (GRCm39) T38P possibly damaging Het
Mylk T A 16: 34,820,688 (GRCm39) I89N probably damaging Het
Ncoa2 A T 1: 13,226,725 (GRCm39) C996S possibly damaging Het
Npr2 A G 4: 43,640,597 (GRCm39) E350G probably damaging Het
Or5an1b T C 19: 12,299,792 (GRCm39) Y133C probably damaging Het
Pald1 T C 10: 61,156,996 (GRCm39) E818G probably benign Het
Phf19 G T 2: 34,794,143 (GRCm39) Q210K probably damaging Het
Pomgnt1 G A 4: 116,011,351 (GRCm39) V250M probably damaging Het
Ppm1l T A 3: 69,456,736 (GRCm39) C218S possibly damaging Het
Prkdc G A 16: 15,617,853 (GRCm39) R3228H probably benign Het
Pros1 A T 16: 62,744,938 (GRCm39) T518S probably benign Het
Rexo1 A G 10: 80,386,470 (GRCm39) V196A possibly damaging Het
Scgb2b20 A T 7: 33,065,724 (GRCm39) M1K probably null Het
Scn11a A G 9: 119,594,580 (GRCm39) V1271A probably benign Het
Serac1 C A 17: 6,102,090 (GRCm39) D395Y probably damaging Het
Syne2 A G 12: 76,012,771 (GRCm39) D2655G probably benign Het
Tm4sf19 T C 16: 32,224,676 (GRCm39) V8A probably benign Het
Usp3 A T 9: 66,427,972 (GRCm39) D334E probably benign Het
Uty C T Y: 1,240,000 (GRCm39) probably null Het
Vmn2r7 T C 3: 64,598,542 (GRCm39) N672D probably damaging Het
Vmn2r96 T A 17: 18,818,100 (GRCm39) L751H probably damaging Het
Wnk2 T C 13: 49,254,616 (GRCm39) S300G probably damaging Het
Zp3r G T 1: 130,505,632 (GRCm39) S508R probably benign Het
Other mutations in Rdh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02756:Rdh8 APN 9 20,736,637 (GRCm39) missense possibly damaging 0.52
R3703:Rdh8 UTSW 9 20,734,629 (GRCm39) missense probably damaging 1.00
R4332:Rdh8 UTSW 9 20,733,925 (GRCm39) missense probably damaging 1.00
R4588:Rdh8 UTSW 9 20,734,025 (GRCm39) missense probably benign 0.00
R5668:Rdh8 UTSW 9 20,736,475 (GRCm39) missense probably benign 0.00
R5690:Rdh8 UTSW 9 20,736,785 (GRCm39) missense probably damaging 1.00
R6464:Rdh8 UTSW 9 20,734,696 (GRCm39) missense probably damaging 1.00
R7113:Rdh8 UTSW 9 20,736,623 (GRCm39) missense probably benign
R8383:Rdh8 UTSW 9 20,734,081 (GRCm39) critical splice donor site probably null
R8852:Rdh8 UTSW 9 20,734,021 (GRCm39) missense probably benign 0.00
R8860:Rdh8 UTSW 9 20,734,021 (GRCm39) missense probably benign 0.00
R9169:Rdh8 UTSW 9 20,736,935 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CGATGCATGCAAATACTCACAG -3'
(R):5'- GCCAACTGGTCTACCTCTAC -3'

Sequencing Primer
(F):5'- GAGAAAACTGCCTCTTCACTTGG -3'
(R):5'- ACCTCTACCCCTTTATCCAGG -3'
Posted On 2018-11-28