Incidental Mutation 'R4588:Rdh8'
ID 342620
Institutional Source Beutler Lab
Gene Symbol Rdh8
Ensembl Gene ENSMUSG00000053773
Gene Name retinol dehydrogenase 8
Synonyms prRDH, LOC235033
MMRRC Submission 042007-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4588 (G1)
Quality Score 143
Status Validated
Chromosome 9
Chromosomal Location 20729799-20737413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20734025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 70 (D70E)
Ref Sequence ENSEMBL: ENSMUSP00000067662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066387]
AlphaFold D3Z6W3
Predicted Effect probably benign
Transcript: ENSMUST00000066387
AA Change: D70E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000067662
Gene: ENSMUSG00000053773
AA Change: D70E

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 0.0667 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (51/52)
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
Abca7 G T 10: 79,833,701 (GRCm39) probably null Het
Abcb4 A T 5: 8,997,328 (GRCm39) I936F probably benign Het
Adnp2 G T 18: 80,171,863 (GRCm39) L849I probably benign Het
Atf7ip T C 6: 136,576,692 (GRCm39) S1032P probably benign Het
Atr A C 9: 95,747,720 (GRCm39) D334A probably benign Het
Atrip A T 9: 108,889,347 (GRCm39) D20E probably damaging Het
Atxn7 T A 14: 14,096,268 (GRCm38) C43* probably null Het
Cfap65 C A 1: 74,943,215 (GRCm39) Q1603H possibly damaging Het
Cpne5 T C 17: 29,383,687 (GRCm39) I327V probably benign Het
Ctsa T C 2: 164,676,070 (GRCm39) S41P possibly damaging Het
Cyp4x1 A T 4: 114,965,994 (GRCm39) L444Q probably damaging Het
Dchs1 C A 7: 105,405,248 (GRCm39) M2431I probably benign Het
Ddi1 T A 9: 6,266,003 (GRCm39) H122L probably benign Het
Defa21 C T 8: 21,515,664 (GRCm39) P21S probably damaging Het
Ect2 A G 3: 27,201,149 (GRCm39) V77A probably damaging Het
Ermap C A 4: 119,045,445 (GRCm39) probably benign Het
Fancm G A 12: 65,165,215 (GRCm39) probably null Het
Gcnt3 T A 9: 69,941,512 (GRCm39) D352V probably damaging Het
Gys2 A G 6: 142,395,181 (GRCm39) M428T possibly damaging Het
Igtp T A 11: 58,097,508 (GRCm39) N226K probably damaging Het
Itpr2 T A 6: 146,142,694 (GRCm39) H1675L probably benign Het
Lipo4 G A 19: 33,476,647 (GRCm39) P367L possibly damaging Het
Lzts3 T C 2: 130,476,686 (GRCm39) *587W probably null Het
Mast3 T A 8: 71,233,251 (GRCm39) K300* probably null Het
Mepce G A 5: 137,783,534 (GRCm39) T264I possibly damaging Het
Mif4gd A T 11: 115,500,372 (GRCm39) I62N probably damaging Het
Or14a260 C T 7: 85,984,852 (GRCm39) V251I probably benign Het
Or7e175 T A 9: 20,049,383 (GRCm39) *324K probably null Het
Palm3 A G 8: 84,756,015 (GRCm39) K509R probably benign Het
Pde11a T C 2: 75,859,647 (GRCm39) T821A probably damaging Het
Pik3r5 A G 11: 68,384,087 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,271,092 (GRCm39) T3154A probably benign Het
Ptprs A G 17: 56,732,534 (GRCm39) Y438H probably damaging Het
Scn2a A T 2: 65,544,111 (GRCm39) I831L possibly damaging Het
Selenoo A G 15: 88,980,921 (GRCm39) H420R probably benign Het
Slc22a16 T C 10: 40,446,677 (GRCm39) probably benign Het
Slc5a1 A G 5: 33,302,632 (GRCm39) T208A probably benign Het
Sparc T C 11: 55,296,062 (GRCm39) M121V probably benign Het
Sstr1 G T 12: 58,260,417 (GRCm39) A347S probably benign Het
Stab1 C A 14: 30,879,402 (GRCm39) V693F probably benign Het
Tnn A G 1: 159,972,681 (GRCm39) V307A probably benign Het
Trmt1 A G 8: 85,417,382 (GRCm39) probably benign Het
Ttc3 T C 16: 94,243,760 (GRCm39) S1255P probably benign Het
Ube2ql1 A C 13: 69,887,276 (GRCm39) S62A unknown Het
Vmn2r84 T A 10: 130,221,809 (GRCm39) M804L probably damaging Het
Vps13a T C 19: 16,617,403 (GRCm39) T3002A probably damaging Het
Vps50 A G 6: 3,562,306 (GRCm39) E467G probably damaging 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
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'- TCCTGGAGAAACACACAGGG -3'
(R):5'- GACTCACTGAAGTAATTTTCCCAAC -3'

Sequencing Primer
(F):5'- GCAAAGGAGTCCAGCACTTGTC -3'
(R):5'- CCCAAAGTCTGGCATCTGTAATTAAC -3'
Posted On 2015-09-24