Incidental Mutation 'IGL02651:Rdh12'
ID302154
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh12
Ensembl Gene ENSMUSG00000021123
Gene Nameretinol dehydrogenase 12
SynonymsA930033N07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02651
Quality Score
Status
Chromosome12
Chromosomal Location79208914-79222665 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 79222052 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 301 (I301N)
Ref Sequence ENSEMBL: ENSMUSP00000112543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021548] [ENSMUST00000122227]
Predicted Effect probably damaging
Transcript: ENSMUST00000021548
AA Change: I313N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021548
Gene: ENSMUSG00000021123
AA Change: I313N

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: I301N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112543
Gene: ENSMUSG00000021123
AA Change: I301N

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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,932,506 G233S probably benign Het
Abcc1 T A 16: 14,466,126 C1202S probably benign Het
Acaca C T 11: 84,245,204 probably benign Het
Ap3b1 T A 13: 94,477,021 F676Y probably damaging Het
Arhgef11 C A 3: 87,698,864 Q309K probably damaging Het
Asgr1 T C 11: 70,057,130 Y80H possibly damaging Het
Atp13a5 A T 16: 29,334,091 probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp8b2 A C 3: 89,954,589 probably null Het
Btnl2 A G 17: 34,356,222 M1V probably null Het
Cpsf3 T A 12: 21,293,297 M121K probably damaging Het
Creb3l3 A G 10: 81,084,834 I454T probably benign Het
Cyp2d12 A G 15: 82,556,740 E153G probably damaging Het
Dnah5 A G 15: 28,350,622 I2597V probably benign Het
Ercc5 C A 1: 44,156,944 S32R probably damaging Het
Fchsd2 T A 7: 101,277,600 N656K possibly damaging Het
Fga G A 3: 83,028,534 E23K probably benign Het
Fn1 T C 1: 71,597,676 T1925A possibly damaging Het
Fstl5 A T 3: 76,593,534 E423D probably damaging Het
Glg1 C T 8: 111,160,727 M465I possibly damaging Het
H2-M10.4 C A 17: 36,460,656 R210L probably benign Het
Hbb-y T G 7: 103,852,750 K105Q probably benign Het
Hspg2 A T 4: 137,557,445 probably benign Het
Ipo11 T C 13: 106,875,606 Y556C probably damaging Het
Itpr3 A G 17: 27,106,398 M1322V probably damaging Het
Jhy A G 9: 40,917,335 L425P probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Ms4a6c A T 19: 11,478,305 E159D possibly damaging Het
Msh6 A T 17: 87,989,515 L1213F probably damaging Het
Npy1r A C 8: 66,705,023 R328S possibly damaging Het
Olfr1247 A T 2: 89,609,498 N201K possibly damaging Het
Olfr988 A C 2: 85,353,050 L292R probably damaging Het
Pcdhb18 T G 18: 37,491,181 Y521* probably null Het
Pkhd1l1 A T 15: 44,483,814 Y192F probably damaging Het
Rptor T C 11: 119,892,612 V1144A possibly damaging Het
Sap25 T C 5: 137,642,370 F171L possibly damaging Het
Senp5 A G 16: 31,990,079 L92P probably benign Het
Sfmbt1 T C 14: 30,815,537 S736P probably damaging Het
Tacr1 T C 6: 82,492,641 S169P probably damaging Het
Tbc1d21 A T 9: 58,363,101 Y130* probably null Het
Tle2 G A 10: 81,586,889 G428D probably damaging Het
Tmem117 T A 15: 95,094,561 N367K probably damaging Het
Tmem210 A G 2: 25,289,089 T130A possibly damaging Het
Ttn T G 2: 76,850,024 probably benign Het
Ttyh1 T C 7: 4,124,679 L122P probably damaging Het
Vmn2r60 T C 7: 42,195,586 F791S probably damaging Het
Vps13d A T 4: 145,164,559 N575K probably benign Het
Vps8 T C 16: 21,517,336 V746A probably damaging Het
Wdfy3 A T 5: 101,896,475 M1888K probably benign Het
Zfp595 T C 13: 67,320,953 D3G probably benign Het
Other mutations in Rdh12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Rdh12 APN 12 79211402 missense probably benign 0.25
IGL02828:Rdh12 APN 12 79218685 missense probably damaging 1.00
R1070:Rdh12 UTSW 12 79213748 missense probably damaging 1.00
R1394:Rdh12 UTSW 12 79209065 missense probably benign
R1395:Rdh12 UTSW 12 79209065 missense probably benign
R1467:Rdh12 UTSW 12 79213748 missense probably damaging 1.00
R1467:Rdh12 UTSW 12 79213748 missense probably damaging 1.00
R1591:Rdh12 UTSW 12 79211504 missense probably damaging 1.00
R1633:Rdh12 UTSW 12 79218724 missense probably damaging 0.97
R3753:Rdh12 UTSW 12 79213672 nonsense probably null
R4117:Rdh12 UTSW 12 79213645 missense probably damaging 0.99
R5001:Rdh12 UTSW 12 79212742 missense probably damaging 1.00
R5509:Rdh12 UTSW 12 79210784 intron probably null
Posted On2015-04-16