Incidental Mutation 'R4332:Rdh8'
ID 323636
Institutional Source Beutler Lab
Gene Symbol Rdh8
Ensembl Gene ENSMUSG00000053773
Gene Name retinol dehydrogenase 8
Synonyms prRDH, LOC235033
MMRRC Submission 041099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4332 (G1)
Quality Score 212
Status Validated
Chromosome 9
Chromosomal Location 20729799-20737413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20733925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 37 (A37V)
Ref Sequence ENSEMBL: ENSMUSP00000067662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066387]
AlphaFold D3Z6W3
Predicted Effect probably damaging
Transcript: ENSMUST00000066387
AA Change: A37V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067662
Gene: ENSMUSG00000053773
AA Change: A37V

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
Meta Mutation Damage Score 0.2339 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (56/57)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T C 8: 106,436,356 (GRCm39) I175T possibly damaging Het
A2m A G 6: 121,634,406 (GRCm39) D646G probably benign Het
Acat2 T C 17: 13,181,782 (GRCm39) probably benign Het
Armc10 T A 5: 21,866,579 (GRCm39) V281E probably damaging Het
Best3 T A 10: 116,838,429 (GRCm39) F162L probably benign Het
Ces1g T C 8: 94,046,446 (GRCm39) M360V probably benign Het
Chd7 G T 4: 8,854,143 (GRCm39) R1905L probably damaging Het
Dhx36 C T 3: 62,392,412 (GRCm39) R538Q probably damaging Het
Efna2 G A 10: 80,024,315 (GRCm39) R161Q probably damaging Het
Farsb T C 1: 78,445,903 (GRCm39) T159A possibly damaging Het
Fry C T 5: 150,305,128 (GRCm39) A611V probably damaging Het
Fsip2 A G 2: 82,808,201 (GRCm39) T1507A probably benign Het
Gm5592 G T 7: 40,865,542 (GRCm39) probably benign Het
Gm7367 T C 7: 59,805,364 (GRCm39) noncoding transcript Het
Gm9312 A T 12: 24,302,095 (GRCm39) noncoding transcript Het
Gmfg A T 7: 28,136,997 (GRCm39) M1L probably benign Het
Gpr149 C A 3: 62,511,794 (GRCm39) L68F possibly damaging Het
Hmga2 T C 10: 120,200,117 (GRCm39) probably benign Het
Il12a C A 3: 68,602,594 (GRCm39) probably benign Het
Itprid1 G A 6: 55,945,220 (GRCm39) G647D possibly damaging Het
Itsn2 T A 12: 4,762,611 (GRCm39) M1597K possibly damaging Het
Kyat3 A G 3: 142,431,187 (GRCm39) I154M probably damaging Het
Npas3 A C 12: 54,108,852 (GRCm39) I419L probably damaging Het
Ogfrl1 T A 1: 23,414,910 (GRCm39) Y199F probably damaging Het
Or14a259 A C 7: 86,013,080 (GRCm39) V155G probably benign Het
Or5aq7 A G 2: 86,938,089 (GRCm39) V214A possibly damaging Het
Or6b6 T C 7: 106,571,354 (GRCm39) M66V probably benign Het
P2rx3 G A 2: 84,855,205 (GRCm39) P84S probably benign Het
P3h3 A G 6: 124,819,099 (GRCm39) V657A probably damaging Het
Pabpc2 A G 18: 39,908,393 (GRCm39) M553V probably benign Het
Pcdhb1 T C 18: 37,398,583 (GRCm39) F178S probably damaging Het
Plppr4 A T 3: 117,116,474 (GRCm39) M403K probably benign Het
Ralgapa2 G A 2: 146,102,288 (GRCm39) T1956M probably benign Het
Rbm12b1 G T 4: 12,145,655 (GRCm39) K542N probably benign Het
Rnf213 A G 11: 119,327,502 (GRCm39) T1830A probably damaging Het
Sardh G T 2: 27,105,126 (GRCm39) Q666K possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 T G 11: 87,458,730 (GRCm39) L368R possibly damaging Het
Serpinb11 G A 1: 107,297,294 (GRCm39) probably null Het
Slc6a6 G A 6: 91,700,452 (GRCm39) G60D probably damaging Het
Tfr2 A G 5: 137,569,996 (GRCm39) D134G probably damaging Het
Tmprss15 T C 16: 78,831,222 (GRCm39) T378A probably benign Het
Tmprss7 T G 16: 45,506,690 (GRCm39) K124T probably benign Het
Urb1 A G 16: 90,571,425 (GRCm39) L1128P probably damaging Het
Usp32 C T 11: 84,994,804 (GRCm39) C36Y possibly damaging Het
Vmn2r50 T A 7: 9,786,922 (GRCm39) T62S probably benign Het
Zfp110 T A 7: 12,578,498 (GRCm39) Y136* probably null 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
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
R6949:Rdh8 UTSW 9 20,734,003 (GRCm39) missense probably benign 0.05
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'- GGCTAGAATCTTGCCGATGG -3'

Sequencing Primer
(F):5'- TCACAGGGTAAGAGCCTTTGC -3'
(R):5'- GCTAGAATCTTGCCGATGGTATATAC -3'
Posted On 2015-06-24