Incidental Mutation 'R8860:Rdh8'
ID 675610
Institutional Source Beutler Lab
Gene Symbol Rdh8
Ensembl Gene ENSMUSG00000053773
Gene Name retinol dehydrogenase 8
Synonyms prRDH, LOC235033
MMRRC Submission 068678-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8860 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 20729799-20737413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 20734021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 69 (N69T)
Ref Sequence ENSEMBL: ENSMUSP00000067662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066387]
AlphaFold D3Z6W3
Predicted Effect probably benign
Transcript: ENSMUST00000066387
AA Change: N69T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000067662
Gene: ENSMUSG00000053773
AA Change: N69T

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T G 12: 71,231,197 (GRCm39) V985G possibly damaging Het
Acr T G 15: 89,458,057 (GRCm39) M246R probably damaging Het
Ago4 A T 4: 126,387,043 (GRCm39) D853E probably benign Het
Atf6 A T 1: 170,680,535 (GRCm39) F52L probably null Het
Blm A T 7: 80,144,276 (GRCm39) C782S probably benign Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Ccdc106 A G 7: 5,062,570 (GRCm39) D192G probably benign Het
Celf2 A G 2: 6,565,468 (GRCm39) probably null Het
Chd1l A G 3: 97,477,685 (GRCm39) F690S probably benign Het
Chuk A G 19: 44,076,407 (GRCm39) S435P possibly damaging Het
Cisd3 T A 11: 97,576,703 (GRCm39) S10T probably benign Het
Cma2 G T 14: 56,210,574 (GRCm39) C143F probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cnppd1 A G 1: 75,113,063 (GRCm39) S402P probably damaging Het
Crtc1 A G 8: 70,840,805 (GRCm39) S474P probably damaging Het
Dhx38 A T 8: 110,289,361 (GRCm39) L13* probably null Het
Fat4 A T 3: 38,946,269 (GRCm39) T1721S probably benign Het
Fntb T A 12: 76,934,826 (GRCm39) V201E possibly damaging Het
Gga3 T C 11: 115,481,244 (GRCm39) D242G probably benign Het
Hif3a A T 7: 16,774,912 (GRCm39) M562K probably benign Het
Hnrnpc A G 14: 52,312,792 (GRCm39) S261P possibly damaging Het
Intu G A 3: 40,627,162 (GRCm39) M314I probably benign Het
Lims1 C T 10: 58,243,925 (GRCm39) Q126* probably null Het
Lrrc14b T A 13: 74,509,408 (GRCm39) D333V probably damaging Het
Meaf6 T A 4: 124,979,990 (GRCm39) L48Q probably damaging Het
Miip T A 4: 147,950,839 (GRCm39) probably benign Het
Myh4 T A 11: 67,132,335 (GRCm39) I155N probably damaging Het
Nnt T C 13: 119,476,407 (GRCm39) Y733C Het
Nup155 T C 15: 8,159,640 (GRCm39) V517A possibly damaging Het
Obscn C T 11: 58,898,440 (GRCm39) R6607Q unknown Het
Or2ak7 C T 11: 58,574,966 (GRCm39) T89I probably benign Het
Or51s1 A G 7: 102,558,336 (GRCm39) S237P probably benign Het
Ptprg T C 14: 12,213,685 (GRCm38) Y1018H probably damaging Het
Rgsl1 G A 1: 153,697,100 (GRCm39) Q572* probably null Het
Septin7 A T 9: 25,163,980 (GRCm39) N16Y possibly damaging Het
Sparcl1 T C 5: 104,241,218 (GRCm39) N69D probably benign Het
Ssh3 A T 19: 4,317,992 (GRCm39) V41E probably damaging Het
Tmem253 A G 14: 52,256,303 (GRCm39) R168G probably benign Het
Vmn2r60 T A 7: 41,791,654 (GRCm39) F526I probably damaging Het
Vmn2r73 A T 7: 85,522,149 (GRCm39) probably benign Het
Vps4b A G 1: 106,710,414 (GRCm39) F156L possibly damaging Het
Zfp354c T A 11: 50,706,019 (GRCm39) H352L probably damaging Het
Zic2 A T 14: 122,713,530 (GRCm39) H148L possibly 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
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
R9169:Rdh8 UTSW 9 20,736,935 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ATCCTGGAGAAACACACAGG -3'
(R):5'- TGAGTGGCTGCTTCATCATTC -3'

Sequencing Primer
(F):5'- GGCAAAGGAGTCCAGCACTTG -3'
(R):5'- CCTGTCTTTGAATGACTCACTGAAG -3'
Posted On 2021-07-15