Incidental Mutation 'R1394:Rdh12'
ID 162756
Institutional Source Beutler Lab
Gene Symbol Rdh12
Ensembl Gene ENSMUSG00000021123
Gene Name retinol dehydrogenase 12
Synonyms A930033N07Rik
MMRRC Submission 039456-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1394 (G1)
Quality Score 225
Status Not 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: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.4%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A G 5: 113,249,362 (GRCm39) Y122H probably damaging Het
Ankrd27 T C 7: 35,315,294 (GRCm39) F481S possibly damaging Het
Casd1 T G 6: 4,624,117 (GRCm39) C303W probably 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
Cep290 T C 10: 100,373,391 (GRCm39) S1224P possibly damaging Het
Col5a2 A G 1: 45,442,579 (GRCm39) probably null Het
Cwc22 G A 2: 77,759,823 (GRCm39) R75C possibly damaging Het
Cyp4a30b A T 4: 115,328,089 (GRCm39) probably null Het
Dnah11 T C 12: 117,936,099 (GRCm39) D3298G possibly damaging Het
Drc3 T C 11: 60,284,545 (GRCm39) I450T possibly damaging Het
Dst T C 1: 34,204,236 (GRCm39) probably null Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Emilin2 G T 17: 71,560,066 (GRCm39) D970E possibly damaging Het
Fcgbp A G 7: 27,792,804 (GRCm39) H936R probably damaging Het
Fkbp15 T A 4: 62,246,109 (GRCm39) M440L probably benign 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
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Ift81 G T 5: 122,706,986 (GRCm39) D485E probably benign Het
Ipp T A 4: 116,395,109 (GRCm39) L548* probably null Het
Itm2a C T X: 106,441,807 (GRCm39) V200I possibly damaging Het
Kank1 A G 19: 25,405,528 (GRCm39) N1182S probably damaging Het
Mkks C T 2: 136,722,882 (GRCm39) G92S probably damaging Het
Mybbp1a C T 11: 72,334,474 (GRCm39) P243L probably damaging Het
Myo1f A G 17: 33,802,714 (GRCm39) D386G probably damaging Het
Obsl1 T C 1: 75,469,309 (GRCm39) S109G probably 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
Pcdh12 A G 18: 38,414,242 (GRCm39) probably null Het
Phlpp1 T C 1: 106,278,348 (GRCm39) V920A possibly damaging Het
Phlpp2 T A 8: 110,603,662 (GRCm39) C109* probably null Het
Prickle2 T A 6: 92,353,363 (GRCm39) H701L possibly damaging Het
Psen1 G A 12: 83,771,346 (GRCm39) G209R probably damaging Het
Psg19 T C 7: 18,530,983 (GRCm39) N57S probably damaging Het
Rgma G T 7: 73,067,542 (GRCm39) A360S probably benign Het
Scyl2 T A 10: 89,476,827 (GRCm39) K766M possibly damaging 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
Spin1 T C 13: 51,298,517 (GRCm39) Y179H probably damaging Het
Tecpr1 T C 5: 144,143,357 (GRCm39) T673A possibly damaging Het
Tenm3 T A 8: 48,729,435 (GRCm39) M1508L probably benign Het
Vasn C T 16: 4,467,576 (GRCm39) R508* probably null 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
Zfand1 G T 3: 10,411,269 (GRCm39) T62K probably benign Het
Zfy1 C T Y: 725,957 (GRCm39) V603I possibly 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
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'- AGTTGCTGAGTGTCCCAGAGTGAG -3'
(R):5'- AGGAGTCCCTTAACGATGAAGTCCC -3'

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