Incidental Mutation 'R1070:Rdh12'
ID 86175
Institutional Source Beutler Lab
Gene Symbol Rdh12
Ensembl Gene ENSMUSG00000021123
Gene Name retinol dehydrogenase 12
Synonyms A930033N07Rik
MMRRC Submission 039156-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1070 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 79255687-79269438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79260522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 206 (L206P)
Ref Sequence ENSEMBL: ENSMUSP00000112543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021548] [ENSMUST00000122227] [ENSMUST00000140823]
AlphaFold Q8BYK4
Predicted Effect probably damaging
Transcript: ENSMUST00000021548
AA Change: L218P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021548
Gene: ENSMUSG00000021123
AA Change: L218P

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 damaging
Transcript: ENSMUST00000122227
AA Change: L206P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112543
Gene: ENSMUSG00000021123
AA Change: L206P

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
SMART Domains Protein: ENSMUSP00000118851
Gene: ENSMUSG00000021123

DomainStartEndE-ValueType
Pfam:KR 28 130 3e-11 PFAM
Pfam:adh_short 28 137 2.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151980
Meta Mutation Damage Score 0.9640 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,263 (GRCm39) D1367G probably damaging Het
Actr3b A G 5: 26,053,491 (GRCm39) probably benign Het
Agtr1b A T 3: 20,369,912 (GRCm39) N231K probably benign Het
Bach1 T C 16: 87,517,009 (GRCm39) S517P probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Bptf G T 11: 106,945,881 (GRCm39) Q2453K possibly damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Heatr4 T C 12: 84,024,841 (GRCm39) T327A possibly damaging Het
Hes1 T C 16: 29,886,101 (GRCm39) I235T probably damaging Het
Hmcn1 T A 1: 150,565,341 (GRCm39) D2262V probably damaging Het
Ifi208 C T 1: 173,510,610 (GRCm39) A255V probably damaging Het
Inhbe T C 10: 127,187,382 (GRCm39) I11M probably benign Het
Ipo9 T C 1: 135,334,281 (GRCm39) E315G possibly damaging Het
Itih1 G T 14: 30,664,413 (GRCm39) probably benign Het
Kcnk2 A G 1: 188,988,960 (GRCm39) probably benign Het
Kdm4c T A 4: 74,291,865 (GRCm39) Y827* probably null Het
Kif5a T C 10: 127,081,275 (GRCm39) T220A probably benign Het
Krt78 A G 15: 101,854,728 (GRCm39) Y1028H possibly damaging Het
Ldc1 T C 4: 130,112,949 (GRCm39) E149G probably benign Het
Mylk4 T C 13: 32,908,801 (GRCm39) D333G probably benign Het
Net1 A T 13: 3,962,930 (GRCm39) S45T probably benign Het
Npat T A 9: 53,483,892 (GRCm39) F1403I probably damaging Het
Or5h25 A G 16: 58,930,182 (GRCm39) S264P probably benign Het
Or5p57 T C 7: 107,665,858 (GRCm39) D49G probably benign Het
Or7a35 C T 10: 78,853,684 (GRCm39) P176L probably damaging Het
Pcif1 T C 2: 164,731,058 (GRCm39) Y404H probably benign Het
Pdzd2 A G 15: 12,390,052 (GRCm39) probably null Het
Rab3a A G 8: 71,209,840 (GRCm39) N40S probably damaging Het
Raf1 T C 6: 115,614,660 (GRCm39) N74D probably benign Het
Rap1gap2 A G 11: 74,327,853 (GRCm39) V139A possibly damaging Het
Rimoc1 C A 15: 4,015,848 (GRCm39) V239F probably benign Het
Sdhb T C 4: 140,698,547 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Strip1 T C 3: 107,534,724 (GRCm39) E102G possibly damaging Het
Sult2a8 T A 7: 14,147,698 (GRCm39) I198F probably damaging Het
Tars3 T C 7: 65,305,444 (GRCm39) S223P probably damaging Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Vcam1 C T 3: 115,904,552 (GRCm39) V732M possibly damaging Het
Vmn2r79 T C 7: 86,652,681 (GRCm39) Y458H probably damaging Het
Other mutations in Rdh12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Rdh12 APN 12 79,258,176 (GRCm39) missense probably benign 0.25
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
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
Predicted Primers PCR Primer
(F):5'- GTTCAGAAGTCCTGCCATTCGATCC -3'
(R):5'- TGTTCAACAGCCTGGTTCCAGAAG -3'

Sequencing Primer
(F):5'- CCTAGAGATGTTCTACCTGGAAG -3'
(R):5'- CCTATAATCTGGACCAAGGATTTCG -3'
Posted On 2013-11-18