Incidental Mutation 'R1395:Rdh12'
ID 162823
Institutional Source Beutler Lab
Gene Symbol Rdh12
Ensembl Gene ENSMUSG00000021123
Gene Name retinol dehydrogenase 12
Synonyms A930033N07Rik
MMRRC Submission 039457-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1395 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 79255687-79269438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79255839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 9 (T9A)
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: T9A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021548
Gene: ENSMUSG00000021123
AA Change: T9A

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: T9A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112543
Gene: ENSMUSG00000021123
AA Change: T9A

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 0.0652 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (70/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A G 5: 113,249,362 (GRCm39) Y122H probably damaging Het
A330070K13Rik A G 5: 130,407,982 (GRCm39) probably benign Het
Abcc2 A G 19: 43,822,379 (GRCm39) R1406G probably benign Het
Adgrv1 G T 13: 81,534,907 (GRCm39) T5786K probably benign Het
Ankrd27 T C 7: 35,315,294 (GRCm39) F481S possibly damaging Het
Arhgap11a C T 2: 113,663,467 (GRCm39) V939I probably benign Het
Arhgap12 T C 18: 6,037,058 (GRCm39) N561S probably benign Het
Arhgef12 T C 9: 42,917,166 (GRCm39) H391R probably damaging Het
Asb3 T C 11: 31,051,032 (GRCm39) probably benign Het
C2cd5 T C 6: 143,007,464 (GRCm39) probably benign Het
Ccdc85a T C 11: 28,533,412 (GRCm39) K44R possibly damaging Het
Cep128 C T 12: 91,233,754 (GRCm39) R438Q probably benign Het
Cep192 A G 18: 67,991,992 (GRCm39) T1957A probably damaging Het
Col20a1 T A 2: 180,640,400 (GRCm39) V519E probably damaging Het
Cylc2 A G 4: 51,228,366 (GRCm39) K146E possibly damaging Het
Drgx C T 14: 32,330,326 (GRCm39) P148S probably benign Het
Dst T C 1: 34,204,236 (GRCm39) probably null Het
Eef1a1 C T 9: 78,386,300 (GRCm39) V402I probably benign Het
Esyt3 T C 9: 99,198,835 (GRCm39) probably benign Het
Extl3 A G 14: 65,314,945 (GRCm39) V79A possibly damaging Het
Fat3 C T 9: 16,158,212 (GRCm39) V1133I probably benign Het
Fcgbp A G 7: 27,792,804 (GRCm39) H936R probably damaging Het
Fdxacb1 TAGAC T 9: 50,683,796 (GRCm39) probably null Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gm44511 G A 6: 128,797,293 (GRCm39) S32L possibly damaging Het
Gm8374 G T 14: 18,537,058 (GRCm39) N55K probably benign Het
Gria1 T A 11: 57,174,392 (GRCm39) I558N probably damaging Het
Gse1 G T 8: 121,301,738 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hectd4 T C 5: 121,466,576 (GRCm39) probably null Het
Herc1 T C 9: 66,346,463 (GRCm39) I1943T probably benign Het
Ift172 T C 5: 31,442,582 (GRCm39) probably benign Het
Ift81 G T 5: 122,706,986 (GRCm39) D485E probably benign Het
Lactb T C 9: 66,878,661 (GRCm39) probably benign Het
Map1a C T 2: 121,134,406 (GRCm39) H1741Y probably benign Het
Map1lc3b T C 8: 122,323,459 (GRCm39) Y110H probably benign Het
Mlh1 T C 9: 111,076,445 (GRCm39) D304G probably damaging Het
Myo1f A G 17: 33,802,714 (GRCm39) D386G probably damaging Het
Ncoa4 T A 14: 31,894,798 (GRCm39) probably null Het
Neto1 T C 18: 86,416,144 (GRCm39) probably benign Het
Nf1 T C 11: 79,426,809 (GRCm39) V1741A possibly damaging Het
Nkain2 C A 10: 32,766,185 (GRCm39) probably benign Het
Obsl1 T C 1: 75,469,309 (GRCm39) S109G probably damaging Het
Or51ah3 T C 7: 103,210,326 (GRCm39) L214P possibly damaging Het
Or51f23 G A 7: 102,453,414 (GRCm39) C243Y possibly damaging Het
Or6z6 T A 7: 6,491,361 (GRCm39) T171S probably damaging Het
Or9s13 T A 1: 92,548,267 (GRCm39) I213N probably benign Het
Phlpp1 T C 1: 106,278,348 (GRCm39) V920A possibly damaging Het
Psen1 G A 12: 83,771,346 (GRCm39) G209R probably damaging Het
Ralgapa2 T G 2: 146,230,420 (GRCm39) K963N probably damaging Het
Rgma G T 7: 73,067,542 (GRCm39) A360S probably benign Het
Sag G A 1: 87,756,163 (GRCm39) V257I probably benign Het
Scaf1 T C 7: 44,657,721 (GRCm39) E386G probably damaging Het
Slc4a10 A G 2: 62,143,630 (GRCm39) E1055G probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31e5 T C 1: 28,815,890 (GRCm39) E714G possibly damaging Het
Spata46 A G 1: 170,139,573 (GRCm39) T191A probably benign Het
Tgm2 T A 2: 157,966,172 (GRCm39) H494L probably benign Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ugt3a1 T G 15: 9,306,378 (GRCm39) L176V possibly damaging Het
Vmn2r15 T A 5: 109,442,014 (GRCm39) I140L probably benign Het
Wdr44 T G X: 23,662,298 (GRCm39) C645G probably damaging Het
Wdr87-ps T A 7: 29,230,812 (GRCm39) noncoding transcript Het
Zfp322a C T 13: 23,540,945 (GRCm39) V266I probably benign Het
Zfp663 T C 2: 165,194,492 (GRCm39) R576G 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
R1070:Rdh12 UTSW 12 79,260,522 (GRCm39) missense probably damaging 1.00
R1394: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'- AGTTGCTGAGTGTCCCAGAGTGAG -3'
(R):5'- AGGAGTCCCTTAACGATGAAGTCCC -3'

Sequencing Primer
(F):5'- TGTCCCAGAGTGAGAGGAACC -3'
(R):5'- TGACACTCACCTCATCTAGGG -3'
Posted On 2014-03-17