Incidental Mutation 'R7586:Rdh11'
ID 587160
Institutional Source Beutler Lab
Gene Symbol Rdh11
Ensembl Gene ENSMUSG00000066441
Gene Name retinol dehydrogenase 11
Synonyms Psdr1, Mdt1, Arsdr1, 2610319N22Rik, M42C60
MMRRC Submission 045668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R7586 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 79221007-79238629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79231957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 199 (Y199C)
Ref Sequence ENSEMBL: ENSMUSP00000124066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085254] [ENSMUST00000159500] [ENSMUST00000161204]
AlphaFold Q9QYF1
Predicted Effect probably damaging
Transcript: ENSMUST00000085254
AA Change: Y183C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082352
Gene: ENSMUSG00000066441
AA Change: Y183C

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 damaging
Transcript: ENSMUST00000161204
AA Change: Y199C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124066
Gene: ENSMUSG00000066441
AA Change: Y199C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1a C T 9: 65,409,466 (GRCm39) probably null Het
Ankrd31 A G 13: 96,968,562 (GRCm39) E733G possibly damaging Het
Cars2 C T 8: 11,580,321 (GRCm39) W239* probably null Het
Catsperz A T 19: 6,899,929 (GRCm39) L192* probably null Het
Ccdc168 G A 1: 44,099,173 (GRCm39) R642W probably benign Het
Cdh3 T C 8: 107,237,975 (GRCm39) probably null Het
Cfh C T 1: 140,075,459 (GRCm39) V260M probably damaging Het
Clcn4 T A 7: 7,296,958 (GRCm39) S227C probably benign Het
Cntn3 A T 6: 102,397,388 (GRCm39) W62R probably damaging Het
Col27a1 C A 4: 63,143,278 (GRCm39) A322D probably damaging Het
Egflam C T 15: 7,238,082 (GRCm39) G934S probably damaging Het
Eloa A G 4: 135,734,510 (GRCm39) V665A probably damaging Het
Epg5 A G 18: 78,073,275 (GRCm39) T2433A probably benign Het
Ercc5 A G 1: 44,215,011 (GRCm39) N848S possibly damaging Het
Fbrsl1 A C 5: 110,526,020 (GRCm39) F61V probably damaging Het
Fry T C 5: 150,349,683 (GRCm39) Y1595H probably damaging Het
Fstl4 A G 11: 52,963,256 (GRCm39) N213D probably benign Het
Gab2 C T 7: 96,950,645 (GRCm39) P446L probably damaging Het
Ganab A T 19: 8,888,716 (GRCm39) Y552F possibly damaging Het
Gfy C T 7: 44,826,962 (GRCm39) R378Q probably damaging Het
Gm3285 T C 10: 77,697,875 (GRCm39) V8A unknown Het
Grip1 A T 10: 119,913,043 (GRCm39) probably null Het
Gtf3c3 A G 1: 54,442,752 (GRCm39) L764P probably damaging Het
Igfbp2 A T 1: 72,888,307 (GRCm39) M150L probably benign Het
Jakmip2 C T 18: 43,673,676 (GRCm39) R796Q probably damaging Het
Jpt1 T A 11: 115,389,021 (GRCm39) R141W probably damaging Het
Junb T C 8: 85,704,802 (GRCm39) E86G probably damaging Het
Klhl41 A T 2: 69,505,068 (GRCm39) D457V probably benign Het
Lama2 T C 10: 26,977,389 (GRCm39) Y1930C probably benign Het
Med13 A T 11: 86,161,828 (GRCm39) I2167N probably damaging Het
Msh3 A G 13: 92,485,840 (GRCm39) probably benign Het
Myo1b A C 1: 51,817,483 (GRCm39) I593S probably damaging Het
Myo1c A T 11: 75,548,345 (GRCm39) T16S possibly damaging Het
Ndufaf4 C T 4: 24,901,829 (GRCm39) L126F probably damaging Het
Nlrp9a A T 7: 26,256,721 (GRCm39) N113I possibly damaging Het
Or5d43 T A 2: 88,104,794 (GRCm39) I200F probably damaging Het
Or5g23 G C 2: 85,438,528 (GRCm39) S242C probably damaging Het
Or5p6 T A 7: 107,631,128 (GRCm39) T141S probably benign Het
Pabpc6 A T 17: 9,887,611 (GRCm39) D313E probably damaging Het
Pcdhb2 G T 18: 37,428,857 (GRCm39) G277* probably null Het
Phkb T G 8: 86,756,226 (GRCm39) V840G probably damaging Het
Pip4k2c A G 10: 127,034,955 (GRCm39) F415S probably damaging Het
Ptprb A G 10: 116,179,779 (GRCm39) E1112G probably damaging Het
Pum2 A G 12: 8,797,206 (GRCm39) D847G probably damaging Het
Qrich2 C T 11: 116,346,450 (GRCm39) R1458H probably benign Het
Resf1 A T 6: 149,228,291 (GRCm39) N446Y possibly damaging Het
Scamp3 A G 3: 89,087,673 (GRCm39) Y171C probably damaging Het
Serpinb9b T C 13: 33,223,743 (GRCm39) S312P probably damaging Het
Slain2 G A 5: 73,123,165 (GRCm39) S461N probably benign Het
Slc23a1 G A 18: 35,758,891 (GRCm39) T100I probably damaging Het
Spata31d1b T A 13: 59,866,194 (GRCm39) I1114N probably damaging Het
Spinkl A G 18: 44,307,656 (GRCm39) S2P probably damaging Het
Srrt T C 5: 137,300,457 (GRCm39) N173S probably damaging Het
Stk24 C T 14: 121,539,699 (GRCm39) A166T probably damaging Het
Supt16 A T 14: 52,411,013 (GRCm39) V697E probably damaging Het
Taf6l C T 19: 8,761,210 (GRCm39) E53K probably damaging Het
Tmem81 A T 1: 132,435,511 (GRCm39) I106F probably damaging Het
Tnxb C A 17: 34,935,382 (GRCm39) L2561I probably damaging Het
Top3b G A 16: 16,709,232 (GRCm39) R640H probably benign Het
Trpm7 A T 2: 126,652,085 (GRCm39) S1463T probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Tubal3 A C 13: 3,978,198 (GRCm39) D38A possibly damaging Het
Vps13a T A 19: 16,624,962 (GRCm39) I2766F probably benign Het
Wwc1 A T 11: 35,735,022 (GRCm39) V951E possibly damaging Het
Zfp777 A T 6: 48,006,152 (GRCm39) M414K probably benign 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
R5458:Rdh11 UTSW 12 79,235,279 (GRCm39) missense probably benign 0.11
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
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'- CCACCTCCAATATTCAGTGGG -3'
(R):5'- GTGCTGAACAACCCTGATAATCC -3'

Sequencing Primer
(F):5'- CCAATATTCAGTGGGGGCTACTTAC -3'
(R):5'- AATCCTACTTTTTCTCAACAGGTCAC -3'
Posted On 2019-10-24