Incidental Mutation 'R5458:Rdh11'
ID 432894
Institutional Source Beutler Lab
Gene Symbol Rdh11
Ensembl Gene ENSMUSG00000066441
Gene Name retinol dehydrogenase 11
Synonyms Psdr1, Mdt1, Arsdr1, 2610319N22Rik, M42C60
MMRRC Submission 043021-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R5458 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 79221007-79238629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79235279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 106 (A106T)
Ref Sequence ENSEMBL: ENSMUSP00000124066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085254] [ENSMUST00000159500] [ENSMUST00000161204]
AlphaFold Q9QYF1
Predicted Effect probably benign
Transcript: ENSMUST00000085254
AA Change: A90T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000082352
Gene: ENSMUSG00000066441
AA Change: A90T

DomainStartEndE-ValueType
Pfam:adh_short 23 201 1.3e-23 PFAM
Pfam:KR 24 190 1.6e-10 PFAM
Pfam:Epimerase 25 227 1.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159500
Predicted Effect probably benign
Transcript: ENSMUST00000161204
AA Change: A106T

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124066
Gene: ENSMUSG00000066441
AA Change: A106T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:adh_short 39 244 1.7e-36 PFAM
Pfam:KR 40 199 2.2e-10 PFAM
Meta Mutation Damage Score 0.1032 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit delayed dark adaptation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp A G 6: 125,027,013 (GRCm39) probably benign Het
Acsl5 A G 19: 55,282,662 (GRCm39) D589G probably damaging Het
Akap13 T A 7: 75,236,049 (GRCm39) L208Q probably damaging Het
Ankfn1 C T 11: 89,325,636 (GRCm39) R512K probably benign Het
Ankhd1 T C 18: 36,781,538 (GRCm39) S2197P probably benign Het
Ankrd27 A G 7: 35,291,236 (GRCm39) N11D probably damaging Het
Aspg T C 12: 112,086,436 (GRCm39) V230A probably damaging Het
Atp2c1 A T 9: 105,291,924 (GRCm39) Y709* probably null Het
Atp8b2 T C 3: 89,853,329 (GRCm39) N748D probably benign Het
B4galnt3 A G 6: 120,187,346 (GRCm39) V684A probably damaging Het
Bco2 T C 9: 50,456,644 (GRCm39) probably null Het
Bcr T C 10: 74,990,792 (GRCm39) V766A probably benign Het
Brca1 T C 11: 101,408,111 (GRCm39) N1404S possibly damaging Het
Cfap251 A G 5: 123,392,508 (GRCm39) probably benign Het
Chd1 A G 17: 15,958,811 (GRCm39) D621G probably damaging Het
Chek1 A G 9: 36,625,725 (GRCm39) S307P probably benign Het
Dhx29 T C 13: 113,103,155 (GRCm39) M1345T probably benign Het
Dnah6 T A 6: 73,063,168 (GRCm39) T2697S probably damaging Het
Ephb4 T C 5: 137,368,114 (GRCm39) V753A probably damaging Het
Fat1 T C 8: 45,466,090 (GRCm39) Y1427H probably damaging Het
Fggy A G 4: 95,814,980 (GRCm39) Q445R probably benign Het
Fv1 A G 4: 147,954,726 (GRCm39) S431G probably benign Het
Gm5965 A T 16: 88,575,395 (GRCm39) R189S probably benign Het
Gnas A G 2: 174,140,124 (GRCm39) I98V probably benign Het
Ino80 T C 2: 119,242,910 (GRCm39) N1086D possibly damaging Het
Lclat1 T C 17: 73,546,914 (GRCm39) L277P probably damaging Het
Lipc T C 9: 70,759,864 (GRCm39) probably benign Het
Myo3a T C 2: 22,250,361 (GRCm39) I76T probably damaging Het
Nkpd1 C A 7: 19,258,201 (GRCm39) A510E probably damaging Het
Nlgn2 G T 11: 69,718,726 (GRCm39) Q285K possibly damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pax5 T C 4: 44,679,526 (GRCm39) D172G probably damaging Het
Pcdh15 T A 10: 74,340,611 (GRCm39) V1115D probably damaging Het
Pdzd7 T C 19: 45,016,230 (GRCm39) S964G probably benign Het
Phip G T 9: 82,808,553 (GRCm39) P474Q probably benign Het
Pop5 C T 5: 115,378,496 (GRCm39) probably benign Het
Ppfibp1 A T 6: 146,913,933 (GRCm39) probably benign Het
Rin3 A G 12: 102,339,975 (GRCm39) T642A probably damaging Het
Scmh1 C T 4: 120,362,478 (GRCm39) probably benign Het
Skint2 A G 4: 112,481,377 (GRCm39) H80R possibly damaging Het
Spata16 A T 3: 26,831,686 (GRCm39) N265I probably damaging Het
Srpk1 T C 17: 28,818,446 (GRCm39) probably null Het
Tcaf1 T C 6: 42,663,476 (GRCm39) T135A probably benign Het
Trappc12 A G 12: 28,796,389 (GRCm39) V381A probably damaging Het
Trim33 T A 3: 103,237,496 (GRCm39) I184K possibly damaging Het
Unc13a C T 8: 72,116,889 (GRCm39) V62M probably damaging Het
Vrk2 A G 11: 26,448,919 (GRCm39) V225A probably damaging Het
Wdr95 C T 5: 149,487,879 (GRCm39) P171L probably damaging Het
Wsb1 T C 11: 79,139,262 (GRCm39) T75A probably damaging Het
Other mutations in Rdh11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Rdh11 APN 12 79,233,187 (GRCm39) critical splice donor site probably null
IGL02642:Rdh11 APN 12 79,232,110 (GRCm39) splice site probably benign
IGL02867:Rdh11 APN 12 79,235,828 (GRCm39) missense possibly damaging 0.64
R2085:Rdh11 UTSW 12 79,229,556 (GRCm39) missense possibly damaging 0.87
R2115:Rdh11 UTSW 12 79,222,996 (GRCm39) missense probably benign
R4963:Rdh11 UTSW 12 79,235,380 (GRCm39) missense probably benign 0.31
R6090:Rdh11 UTSW 12 79,235,838 (GRCm39) missense probably benign 0.05
R6519:Rdh11 UTSW 12 79,229,589 (GRCm39) missense probably damaging 1.00
R7586:Rdh11 UTSW 12 79,231,957 (GRCm39) missense probably damaging 1.00
R8219:Rdh11 UTSW 12 79,235,880 (GRCm39) missense probably benign 0.05
R8719:Rdh11 UTSW 12 79,229,574 (GRCm39) missense probably benign
R9059:Rdh11 UTSW 12 79,238,713 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CTGCTACAGTTTCAGCTTTAGC -3'
(R):5'- ACTTGAAACCAGAGCTGACTG -3'

Sequencing Primer
(F):5'- TCATGGTTGCAGATCCAGAC -3'
(R):5'- AGCCCGTGTGTATTTAGC -3'
Posted On 2016-10-06