Incidental Mutation 'R2085:Rdh11'
ID 230281
Institutional Source Beutler Lab
Gene Symbol Rdh11
Ensembl Gene ENSMUSG00000066441
Gene Name retinol dehydrogenase 11
Synonyms Psdr1, Mdt1, Arsdr1, 2610319N22Rik, M42C60
MMRRC Submission 040090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R2085 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 79221007-79238629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79229556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 239 (Y239C)
Ref Sequence ENSEMBL: ENSMUSP00000124066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085254] [ENSMUST00000159500] [ENSMUST00000161204]
AlphaFold Q9QYF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000085254
AA Change: Y223C

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082352
Gene: ENSMUSG00000066441
AA Change: Y223C

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 possibly damaging
Transcript: ENSMUST00000161204
AA Change: Y239C

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124066
Gene: ENSMUSG00000066441
AA Change: Y239C

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik G T 11: 69,791,198 (GRCm39) T127K possibly damaging Het
A2m T G 6: 121,653,918 (GRCm39) I1417S probably damaging Het
Acad10 A G 5: 121,787,523 (GRCm39) I142T possibly damaging Het
Adprm T A 11: 66,932,678 (GRCm39) D77V probably damaging Het
Apob C T 12: 8,062,240 (GRCm39) T3574I probably damaging Het
Bahcc1 A G 11: 120,178,908 (GRCm39) K2489R probably damaging Het
Bub1b A G 2: 118,452,676 (GRCm39) E443G possibly damaging Het
Cd9 A T 6: 125,440,734 (GRCm39) probably null Het
Cgnl1 G A 9: 71,538,160 (GRCm39) T1194M probably damaging Het
Clec9a T C 6: 129,387,274 (GRCm39) V43A probably benign Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Dpep3 A G 8: 106,701,346 (GRCm39) V401A probably damaging Het
Duox2 G T 2: 122,111,448 (GRCm39) H1417N probably damaging Het
Efhb C T 17: 53,733,937 (GRCm39) probably null Het
F2r T C 13: 95,741,418 (GRCm39) N39S probably benign Het
Fcamr T C 1: 130,739,335 (GRCm39) F212L probably damaging Het
Galt G A 4: 41,758,162 (GRCm39) R309Q probably damaging Het
Gas2l2 C A 11: 83,318,209 (GRCm39) A167S probably benign Het
Hecw1 A T 13: 14,438,672 (GRCm39) F904I possibly damaging Het
Herc2 C A 7: 55,862,713 (GRCm39) H4127Q possibly damaging Het
Hipk1 T C 3: 103,657,670 (GRCm39) T805A probably benign Het
Hivep1 A G 13: 42,337,226 (GRCm39) E2435G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep2 C A 10: 14,015,273 (GRCm39) C1813* probably null Het
Hyal4 C T 6: 24,755,749 (GRCm39) probably benign Het
Inpp4b A G 8: 82,678,903 (GRCm39) Y311C probably damaging Het
Itih4 A G 14: 30,614,280 (GRCm39) Y410C possibly damaging Het
Lama2 A T 10: 27,080,837 (GRCm39) C995* probably null Het
Lingo4 C A 3: 94,309,552 (GRCm39) D163E probably damaging Het
Malt1 A G 18: 65,606,218 (GRCm39) D642G probably damaging Het
Mbd4 T A 6: 115,825,918 (GRCm39) M358L probably benign Het
Mbd5 T A 2: 49,169,323 (GRCm39) F1498Y possibly damaging Het
Me1 T C 9: 86,495,607 (GRCm39) Q280R probably damaging Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or13p10 T C 4: 118,523,301 (GRCm39) S196P probably damaging Het
Or1e1 T C 11: 73,245,247 (GRCm39) S223P possibly damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5h18 C T 16: 58,848,232 (GRCm39) V13I probably benign Het
Or8b1c A G 9: 38,384,223 (GRCm39) Y60C probably damaging Het
Polr2j T C 5: 136,145,625 (GRCm39) F7L probably damaging Het
Ppp1r16a T A 15: 76,577,796 (GRCm39) D303E probably damaging Het
Prickle2 T C 6: 92,353,345 (GRCm39) E763G probably damaging Het
Sdhaf3 A G 6: 6,956,048 (GRCm39) R8G probably benign Het
Sgk2 T C 2: 162,854,890 (GRCm39) S305P probably damaging Het
Sptbn2 A G 19: 4,788,587 (GRCm39) S1189G probably benign Het
Stab2 A G 10: 86,790,023 (GRCm39) L581P probably damaging Het
Tifab T C 13: 56,324,110 (GRCm39) Q111R probably damaging Het
Ubr3 C T 2: 69,784,108 (GRCm39) R775C probably damaging Het
Usp17lb T A 7: 104,489,622 (GRCm39) Q434L possibly damaging Het
Wdr46 G T 17: 34,160,425 (GRCm39) E135* probably null Het
Zfp318 T A 17: 46,720,590 (GRCm39) probably null Het
Zfp874a T A 13: 67,590,967 (GRCm39) H239L probably damaging Het
Zscan29 A T 2: 121,000,427 (GRCm39) L60* probably null 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
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
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'- CCAAGTTATTTCCCCAAAGCAG -3'
(R):5'- TTAGGAGCCTGCTTCCTGAG -3'

Sequencing Primer
(F):5'- GTTATTTCCCCAAAGCAGTAACAAC -3'
(R):5'- TGTGACATAGATGCTCACCAG -3'
Posted On 2014-09-18