Incidental Mutation 'IGL00429:Rdh12'
ID 5977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh12
Ensembl Gene ENSMUSG00000021123
Gene Name retinol dehydrogenase 12
Synonyms A930033N07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00429
Quality Score
Status
Chromosome 12
Chromosomal Location 79255687-79269438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79258176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 68 (I68V)
Ref Sequence ENSEMBL: ENSMUSP00000112543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021548] [ENSMUST00000122227] [ENSMUST00000140823]
AlphaFold Q8BYK4
Predicted Effect probably benign
Transcript: ENSMUST00000021548
AA Change: I68V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021548
Gene: ENSMUSG00000021123
AA Change: I68V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:KR 40 209 7.4e-13 PFAM
Pfam:adh_short 40 243 1.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122227
AA Change: I68V

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112543
Gene: ENSMUSG00000021123
AA Change: I68V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:KR 40 202 7.4e-9 PFAM
Pfam:adh_short 40 207 8.3e-16 PFAM
Pfam:Epimerase 42 227 2.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140823
AA Change: I56V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000118851
Gene: ENSMUSG00000021123
AA Change: I56V

DomainStartEndE-ValueType
Pfam:KR 28 130 3e-11 PFAM
Pfam:adh_short 28 137 2.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151980
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in the human gene are associated with Leber congenital amaurosis type 13, and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
PHENOTYPE: Deletion of this gene in mice results in slowed kinetics of all-trans-retinal reduction leading to delayed dark adaptation and increased susceptibility to light-induced photoreceptor apoptosis from accelerated 11-cis-retinal production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009J07Rik G A 10: 77,729,673 (GRCm39) probably benign Het
4933411K16Rik T C 19: 42,040,983 (GRCm39) L38P probably damaging Het
Abca1 A G 4: 53,059,255 (GRCm39) probably null Het
Abca15 T A 7: 119,996,277 (GRCm39) I1401N probably damaging Het
Adam3 A C 8: 25,184,294 (GRCm39) Y569D probably damaging Het
Ap2a1 T C 7: 44,555,192 (GRCm39) S458G probably damaging Het
Asxl3 C T 18: 22,658,280 (GRCm39) P2097S probably benign Het
AW551984 T C 9: 39,504,145 (GRCm39) D607G probably benign Het
Ccdc158 C A 5: 92,805,740 (GRCm39) M338I probably benign Het
Cdh23 A G 10: 60,256,920 (GRCm39) S735P probably damaging Het
Cdh9 T C 15: 16,828,448 (GRCm39) V180A probably damaging Het
Cyp4a31 A T 4: 115,432,171 (GRCm39) probably benign Het
Dus4l A G 12: 31,691,668 (GRCm39) V180A probably benign Het
Dysf A T 6: 84,166,826 (GRCm39) T1672S probably damaging Het
F830016B08Rik T A 18: 60,433,340 (GRCm39) L141Q probably damaging Het
Fhod3 A G 18: 25,127,597 (GRCm39) E313G probably damaging Het
Gm4884 A G 7: 40,693,809 (GRCm39) T593A probably benign Het
H2bc14 T C 13: 21,906,310 (GRCm39) S15P possibly damaging Het
Il18r1 G A 1: 40,537,812 (GRCm39) E526K possibly damaging Het
Lama4 A T 10: 38,887,022 (GRCm39) H109L possibly damaging Het
Mab21l1 A C 3: 55,690,557 (GRCm39) Q48P probably damaging Het
Magi3 T A 3: 103,922,294 (GRCm39) K1474N probably damaging Het
Mre11a T C 9: 14,714,109 (GRCm39) F237L probably damaging Het
Mst1r A T 9: 107,790,449 (GRCm39) probably benign Het
Mtcl2 A C 2: 156,872,784 (GRCm39) F909C probably damaging Het
Myh2 C T 11: 67,071,616 (GRCm39) Q478* probably null Het
Mylip C A 13: 45,562,043 (GRCm39) P282T probably benign Het
Mymk T C 2: 26,952,799 (GRCm39) Y103C probably damaging Het
Necab1 A T 4: 15,052,656 (GRCm39) N107K probably damaging Het
Pclo T C 5: 14,730,753 (GRCm39) probably benign Het
Phgdh T C 3: 98,235,631 (GRCm39) K129E probably damaging Het
Plxna4 T C 6: 32,139,026 (GRCm39) Y1714C probably damaging Het
Pm20d2 A G 4: 33,187,205 (GRCm39) probably benign Het
Ppfibp2 A G 7: 107,296,801 (GRCm39) T172A probably benign Het
Prkca T C 11: 108,234,334 (GRCm39) T54A probably benign Het
Prlr A G 15: 10,328,410 (GRCm39) D295G probably benign Het
Slc14a2 A G 18: 78,193,653 (GRCm39) F850L possibly damaging Het
Smad2 A T 18: 76,431,566 (GRCm39) S185C possibly damaging Het
Trav13n-4 T A 14: 53,601,288 (GRCm39) L19Q probably benign Het
Ush2a T A 1: 188,132,311 (GRCm39) C844* probably null Het
Vwce T A 19: 10,641,875 (GRCm39) probably null Het
Wdr95 T C 5: 149,518,709 (GRCm39) probably benign Het
Zfp143 T C 7: 109,690,979 (GRCm39) I510T probably damaging Het
Zfp930 G T 8: 69,680,634 (GRCm39) K90N probably damaging Het
Other mutations in Rdh12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02651:Rdh12 APN 12 79,268,826 (GRCm39) missense probably damaging 1.00
IGL02828:Rdh12 APN 12 79,265,459 (GRCm39) missense probably damaging 1.00
R1070:Rdh12 UTSW 12 79,260,522 (GRCm39) missense probably damaging 1.00
R1394:Rdh12 UTSW 12 79,255,839 (GRCm39) missense probably benign
R1395:Rdh12 UTSW 12 79,255,839 (GRCm39) missense probably benign
R1467:Rdh12 UTSW 12 79,260,522 (GRCm39) missense probably damaging 1.00
R1467:Rdh12 UTSW 12 79,260,522 (GRCm39) missense probably damaging 1.00
R1591:Rdh12 UTSW 12 79,258,278 (GRCm39) missense probably damaging 1.00
R1633:Rdh12 UTSW 12 79,265,498 (GRCm39) missense probably damaging 0.97
R3753:Rdh12 UTSW 12 79,260,446 (GRCm39) nonsense probably null
R4117:Rdh12 UTSW 12 79,260,419 (GRCm39) missense probably damaging 0.99
R5001:Rdh12 UTSW 12 79,259,516 (GRCm39) missense probably damaging 1.00
R5509:Rdh12 UTSW 12 79,257,558 (GRCm39) splice site probably null
R8366:Rdh12 UTSW 12 79,258,288 (GRCm39) missense probably damaging 1.00
R8899:Rdh12 UTSW 12 79,268,802 (GRCm39) missense probably benign 0.05
Posted On 2012-04-20