Incidental Mutation 'R5509:Rdh12'
ID 431094
Institutional Source Beutler Lab
Gene Symbol Rdh12
Ensembl Gene ENSMUSG00000021123
Gene Name retinol dehydrogenase 12
Synonyms A930033N07Rik
MMRRC Submission 043070-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5509 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 79255687-79269438 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 79257558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021548] [ENSMUST00000122227] [ENSMUST00000140823]
AlphaFold Q8BYK4
Predicted Effect probably null
Transcript: ENSMUST00000021548
SMART Domains Protein: ENSMUSP00000021548
Gene: ENSMUSG00000021123

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 null
Transcript: ENSMUST00000122227
SMART Domains Protein: ENSMUSP00000112543
Gene: ENSMUSG00000021123

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
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.6%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G C 17: 46,635,185 (GRCm39) Q273E probably benign Het
Acly C T 11: 100,405,805 (GRCm39) R329Q probably damaging Het
Acsm2 T C 7: 119,172,840 (GRCm39) S152P probably damaging Het
Adamtsl4 A T 3: 95,588,667 (GRCm39) I515N probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp9a T C 2: 168,481,857 (GRCm39) D879G probably damaging Het
Bmp8b G A 4: 123,008,369 (GRCm39) D112N possibly damaging Het
Camk2d T C 3: 126,633,965 (GRCm39) W496R probably damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cflar T C 1: 58,791,551 (GRCm39) F285L probably benign Het
Cox16 T C 12: 81,519,032 (GRCm39) T176A probably benign Het
Cux1 G T 5: 136,304,171 (GRCm39) A1214D probably benign Het
Cyb5d1 C A 11: 69,284,561 (GRCm39) probably null Het
Dennd6b G A 15: 89,069,225 (GRCm39) P575S probably damaging Het
Fbxl2 A T 9: 113,814,415 (GRCm39) probably null Het
Gfpt2 T C 11: 49,717,973 (GRCm39) F483L possibly damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Invs G A 4: 48,396,337 (GRCm39) V281M probably damaging Het
Kif13a G A 13: 46,905,591 (GRCm39) A784V probably benign Het
Kmt2d T C 15: 98,737,557 (GRCm39) probably benign Het
Lmod2 A G 6: 24,603,888 (GRCm39) T288A probably damaging Het
Lrrc37a T C 11: 103,391,361 (GRCm39) K1355E probably benign Het
Magi3 A T 3: 103,922,818 (GRCm39) S1300T probably benign Het
Mdm2 A C 10: 117,526,517 (GRCm39) D307E probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mroh4 T C 15: 74,478,003 (GRCm39) Y901C probably benign Het
Mtmr14 G T 6: 113,230,768 (GRCm39) probably null Het
Mug2 A T 6: 122,061,340 (GRCm39) Q1420L possibly damaging Het
Net1 T C 13: 3,934,320 (GRCm39) Q459R probably benign Het
Nle1 T C 11: 82,794,008 (GRCm39) R343G possibly damaging Het
Npat C A 9: 53,481,542 (GRCm39) N1083K probably benign Het
Nrp1 G A 8: 129,152,396 (GRCm39) G202R possibly damaging Het
Nsun4 C T 4: 115,908,974 (GRCm39) V529I possibly damaging Het
Or4b1d T A 2: 89,969,236 (GRCm39) L82F probably damaging Het
Or4z4 T A 19: 12,076,341 (GRCm39) I221F possibly damaging Het
Or5b117 A T 19: 13,431,332 (GRCm39) L183Q probably damaging Het
Or8g21 T C 9: 38,905,924 (GRCm39) D269G probably benign Het
Podxl A T 6: 31,503,548 (GRCm39) N264K probably benign Het
Ptprm C T 17: 66,996,353 (GRCm39) A1245T probably damaging Het
Ryr2 T A 13: 11,760,487 (GRCm39) Y1532F probably damaging Het
Senp2 T C 16: 21,859,272 (GRCm39) F441S probably damaging Het
Snap23 C A 2: 120,425,346 (GRCm39) P111T probably benign Het
Sox2 A G 3: 34,704,938 (GRCm39) D125G probably damaging Het
Syne2 T C 12: 75,968,018 (GRCm39) W923R probably damaging Het
Tbc1d2b T C 9: 90,101,022 (GRCm39) E656G probably damaging Het
Tbcd A G 11: 121,492,838 (GRCm39) T892A probably benign Het
Tg A G 15: 66,699,142 (GRCm39) I24V probably benign Het
Trpm3 A T 19: 22,964,622 (GRCm39) K1372N probably damaging Het
Ubc A T 5: 125,464,339 (GRCm39) N329K probably benign Het
Vmn2r106 T A 17: 20,498,684 (GRCm39) H409L probably damaging Het
Wdfy3 T A 5: 102,009,314 (GRCm39) N2751Y possibly damaging Het
Zfp518a T A 19: 40,903,845 (GRCm39) I1258K possibly damaging Het
Zfp91 T C 19: 12,756,451 (GRCm39) E131G probably damaging Het
Zfyve26 T A 12: 79,293,295 (GRCm39) R2027W 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
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
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'- AATGTCTCCATTGGCCCTGG -3'
(R):5'- CTCTTCGAGCAAGCTCTCTG -3'

Sequencing Primer
(F):5'- CTTGCTCAGGTGACTATTTTTAGC -3'
(R):5'- GCAAGCTCTCTGGCTGTC -3'
Posted On 2016-10-05