Incidental Mutation 'IGL01474:Rdh9'
ID 88367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh9
Ensembl Gene ENSMUSG00000056148
Gene Name retinol dehydrogenase 9
Synonyms Crad3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01474
Quality Score
Chromosome 10
Chromosomal Location 127776386-127792697 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127790945 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 289 (L289P)
Ref Sequence ENSEMBL: ENSMUSP00000116574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052652] [ENSMUST00000128247]
AlphaFold Q8K5C8
Predicted Effect possibly damaging
Transcript: ENSMUST00000052652
AA Change: L289P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057732
Gene: ENSMUSG00000056148
AA Change: L289P

signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 220 3.1e-41 PFAM
Pfam:DUF1776 43 303 5.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128133
Predicted Effect probably damaging
Transcript: ENSMUST00000128247
AA Change: L289P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: L289P

signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 195 1.7e-23 PFAM
Pfam:DUF1776 43 303 3.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy, with no apparent alterations in tissue retinoid and serum dihydrotestosterone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A T 13: 91,772,783 K336I possibly damaging Het
Acsbg2 A G 17: 56,861,621 I166T possibly damaging Het
Bpifc T A 10: 86,000,639 M1L probably damaging Het
Ccnb2 T A 9: 70,419,023 N44I probably benign Het
Cdc73 C T 1: 143,671,332 V276M probably benign Het
Cnot7 A G 8: 40,507,449 probably null Het
Col11a1 T A 3: 114,217,134 probably benign Het
Coro1c T C 5: 113,882,155 probably benign Het
Crocc A G 4: 141,035,392 probably benign Het
Dync2h1 A T 9: 7,102,493 Y396N probably benign Het
Gm2888 T A 14: 3,032,041 D116E probably damaging Het
Gm29326 A T 7: 29,562,589 noncoding transcript Het
Gm9774 G T 3: 92,428,343 Q351K probably damaging Het
Greb1 A G 12: 16,684,501 V1496A probably benign Het
Hdac7 A G 15: 97,797,939 probably null Het
Hectd4 A G 5: 121,336,649 T2778A possibly damaging Het
Hist2h2bb A G 3: 96,269,809 probably benign Het
Hivep2 A T 10: 14,143,662 H2059L probably damaging Het
Ift88 A T 14: 57,478,074 I525F probably benign Het
Itga5 G A 15: 103,354,270 Q324* probably null Het
Klhl14 T G 18: 21,557,854 H513P probably damaging Het
Lama5 A T 2: 180,196,570 D837E probably damaging Het
Mrvi1 A T 7: 110,871,433 S898T possibly damaging Het
Muc6 C A 7: 141,651,307 C215F probably damaging Het
Myh15 A G 16: 49,132,098 K844E probably damaging Het
Neb A G 2: 52,328,905 V31A unknown Het
Nipbl A G 15: 8,311,209 I2009T possibly damaging Het
Olfr700 A G 7: 106,805,940 I174T probably benign Het
Piwil2 T C 14: 70,398,218 R536G probably benign Het
Pld3 A G 7: 27,532,619 V412A probably damaging Het
Prkaa2 A C 4: 105,049,332 probably null Het
Rusc2 C T 4: 43,416,434 S580L probably damaging Het
Sidt2 A G 9: 45,946,982 probably null Het
Slc18b1 A T 10: 23,803,850 K92N probably benign Het
Slc20a2 G A 8: 22,535,557 V92M possibly damaging Het
Slc4a11 A T 2: 130,685,544 F644I probably damaging Het
Spata31d1d A T 13: 59,730,215 probably benign Het
Spef2 T C 15: 9,663,158 M846V probably benign Het
Syncrip T C 9: 88,480,747 T3A probably benign Het
Other mutations in Rdh9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Rdh9 APN 10 127790984 missense probably benign 0.00
IGL01348:Rdh9 APN 10 127776792 missense probably benign 0.07
R0659:Rdh9 UTSW 10 127776575 missense possibly damaging 0.52
R4729:Rdh9 UTSW 10 127776752 missense probably benign 0.02
R6139:Rdh9 UTSW 10 127776737 missense possibly damaging 0.94
R6279:Rdh9 UTSW 10 127776758 missense probably benign
R7870:Rdh9 UTSW 10 127776697 missense probably benign
Posted On 2013-11-18