Incidental Mutation 'R3703:Rdh8'
ID 258614
Institutional Source Beutler Lab
Gene Symbol Rdh8
Ensembl Gene ENSMUSG00000053773
Gene Name retinol dehydrogenase 8
Synonyms prRDH, LOC235033
MMRRC Submission 040696-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3703 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 20729799-20737413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20734629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 99 (P99S)
Ref Sequence ENSEMBL: ENSMUSP00000067662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066387]
AlphaFold D3Z6W3
Predicted Effect probably damaging
Transcript: ENSMUST00000066387
AA Change: P99S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067662
Gene: ENSMUSG00000053773
AA Change: P99S

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 0.2019 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 100% (50/50)
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
Arhgap10 C T 8: 77,985,685 (GRCm39) probably null Het
Asap3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGAGGAGGA 4: 135,968,552 (GRCm39) probably benign Het
Bcap29 T C 12: 31,667,151 (GRCm39) H170R probably benign Het
Bltp1 T A 3: 37,041,730 (GRCm39) C2703S probably damaging Het
Brf1 T C 12: 112,932,991 (GRCm39) probably null Het
Btnl7-ps T A 17: 34,752,941 (GRCm39) noncoding transcript Het
Cdh12 C A 15: 21,583,912 (GRCm39) T584K probably damaging Het
Col13a1 A G 10: 61,703,608 (GRCm39) probably null Het
Col25a1 A G 3: 130,343,682 (GRCm39) probably null Het
Csrp2 G A 10: 110,773,735 (GRCm39) probably benign Het
Ctla2a T A 13: 61,083,821 (GRCm39) D37V probably damaging Het
Cubn T A 2: 13,355,754 (GRCm39) H1826L probably damaging Het
Dnajc19 A G 3: 34,134,378 (GRCm39) probably null Het
Dxo T C 17: 35,057,745 (GRCm39) probably benign Het
Edil3 A T 13: 89,325,417 (GRCm39) M269L probably benign Het
Fbxl7 C A 15: 26,543,841 (GRCm39) G269C probably damaging Het
Gpnmb T A 6: 49,028,799 (GRCm39) I439N possibly damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Gtpbp3 T G 8: 71,944,779 (GRCm39) S345A probably benign Het
Hnrnpul2 A G 19: 8,801,773 (GRCm39) E327G probably damaging Het
Ifi207 A T 1: 173,555,029 (GRCm39) Y884* probably null Het
Ifi47 T C 11: 48,986,352 (GRCm39) S40P probably benign Het
Kcnq3 A G 15: 65,893,588 (GRCm39) probably null Het
Kifc3 G A 8: 95,830,656 (GRCm39) probably benign Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Mug1 C T 6: 121,865,515 (GRCm39) probably benign Het
Myh2 A G 11: 67,080,427 (GRCm39) I1214V probably benign Het
Naa30 A G 14: 49,425,059 (GRCm39) N337S probably benign Het
Nap1l3 A T X: 121,305,221 (GRCm39) I499N possibly damaging Het
Nfat5 T A 8: 108,078,053 (GRCm39) probably benign Het
Nisch A G 14: 30,898,702 (GRCm39) probably benign Het
Nt5c3 A G 6: 56,860,652 (GRCm39) probably benign Het
Pklr C T 3: 89,050,008 (GRCm39) R328C probably damaging Het
Prrc2c G A 1: 162,538,260 (GRCm39) R457C probably damaging Het
Rab1a T G 11: 20,174,506 (GRCm39) probably benign Het
Rasa3 A T 8: 13,638,972 (GRCm39) D278E probably benign Het
Snx9 T A 17: 5,978,475 (GRCm39) probably null Het
Spns3 C T 11: 72,390,356 (GRCm39) probably benign Het
Sympk A G 7: 18,774,486 (GRCm39) Y421C probably damaging Het
Tas1r2 G A 4: 139,394,729 (GRCm39) C495Y probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Tmprss15 T C 16: 78,851,030 (GRCm39) probably null Het
Tox3 G T 8: 90,975,533 (GRCm39) T366K possibly damaging Het
Trdmt1 T A 2: 13,526,108 (GRCm39) Q170L probably benign Het
Ttn A T 2: 76,565,752 (GRCm39) V28200D probably damaging Het
Zfp616 G A 11: 73,974,145 (GRCm39) W138* probably null Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign Het
Other mutations in Rdh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02756:Rdh8 APN 9 20,736,637 (GRCm39) missense possibly damaging 0.52
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
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'- GGGAATTGCTCACACATGTATG -3'
(R):5'- CTTCTAACCCTGGATGCAGG -3'

Sequencing Primer
(F):5'- GACAAAGATTCGTTTTCCAGTAGCTC -3'
(R):5'- ATGCAGGGAGGGTGTCC -3'
Posted On 2015-01-23