Incidental Mutation 'R2177:Rdh13'
ID 236935
Institutional Source Beutler Lab
Gene Symbol Rdh13
Ensembl Gene ENSMUSG00000008435
Gene Name retinol dehydrogenase 13 (all-trans and 9-cis)
Synonyms 8430425D21Rik
MMRRC Submission 040179-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R2177 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4427769-4448648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4430666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 264 (E264G)
Ref Sequence ENSEMBL: ENSMUSP00000113433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008579] [ENSMUST00000119485]
AlphaFold Q8CEE7
Predicted Effect possibly damaging
Transcript: ENSMUST00000008579
AA Change: E299G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000008579
Gene: ENSMUSG00000008435
AA Change: E299G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:KR 39 204 1.3e-7 PFAM
Pfam:adh_short 39 245 1.4e-37 PFAM
Pfam:Epimerase 41 231 1.4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119485
AA Change: E264G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113433
Gene: ENSMUSG00000008435
AA Change: E264G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:adh_short 39 115 7.8e-10 PFAM
low complexity region 117 126 N/A INTRINSIC
Meta Mutation Damage Score 0.1004 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disintegration of the outer-plus-inner-segment and outer nuclear layers, reduced amplitudes of a- and b-waves under scotopic conditions and swollen mitochondria in the inner segment following exposure to intense light. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,312 (GRCm39) N356K probably damaging Het
Acap2 C T 16: 30,952,346 (GRCm39) probably null Het
Adamts19 T C 18: 59,087,626 (GRCm39) L552P possibly damaging Het
Adamts2 T A 11: 50,668,055 (GRCm39) M539K probably damaging Het
Aplp1 A T 7: 30,141,946 (GRCm39) C210* probably null Het
Apoa1 A T 9: 46,141,371 (GRCm39) K156* probably null Het
AW551984 G A 9: 39,511,111 (GRCm39) R159C probably benign Het
Bok C T 1: 93,622,787 (GRCm39) Q112* probably null Het
Cemip2 T C 19: 21,789,149 (GRCm39) S528P possibly damaging Het
Cfap57 T G 4: 118,463,885 (GRCm39) I323L probably benign Het
Cfap69 T A 5: 5,675,803 (GRCm39) E270D probably damaging Het
Ch25h G T 19: 34,452,097 (GRCm39) L144M probably damaging Het
Clcn6 T A 4: 148,099,057 (GRCm39) I429F possibly damaging Het
Cpb1 T A 3: 20,320,611 (GRCm39) T115S probably benign Het
Csf1r T A 18: 61,248,015 (GRCm39) probably benign Het
Ddx6 A G 9: 44,539,028 (GRCm39) T279A probably damaging Het
Dnah8 A G 17: 30,872,367 (GRCm39) H452R probably benign Het
Dscam T A 16: 96,411,524 (GRCm39) D1784V probably damaging Het
Exo1 T A 1: 175,710,456 (GRCm39) probably null Het
Fcho1 A G 8: 72,164,905 (GRCm39) S459P probably damaging Het
Fxyd4 C T 6: 117,911,393 (GRCm39) A56T probably damaging Het
Gbf1 T C 19: 46,254,109 (GRCm39) S599P probably benign Het
Iqce T C 5: 140,677,348 (GRCm39) probably benign Het
Kat2a A G 11: 100,601,648 (GRCm39) F256L probably damaging Het
Klk1b1 G T 7: 43,618,695 (GRCm39) R24L possibly damaging Het
Krtap16-1 A G 11: 99,877,275 (GRCm39) V43A probably damaging Het
Maea C G 5: 33,529,034 (GRCm39) Q326E probably benign Het
Man1a2 A T 3: 100,539,847 (GRCm39) I308N probably damaging Het
Marf1 G T 16: 13,970,471 (GRCm39) R83S probably benign Het
Me3 A C 7: 89,282,278 (GRCm39) T54P probably benign Het
Mme A T 3: 63,208,426 (GRCm39) I63L probably benign Het
Mmel1 A G 4: 154,978,560 (GRCm39) N664S probably damaging Het
Mrgprb2 A G 7: 48,202,128 (GRCm39) V199A probably benign Het
Mrpl36 T A 13: 73,479,588 (GRCm39) F33I probably benign Het
Nlrp4e A T 7: 23,054,686 (GRCm39) T947S probably benign Het
Or14c45 G A 7: 86,176,870 (GRCm39) V302I probably benign Het
Or4b1d T A 2: 89,968,808 (GRCm39) H225L possibly damaging Het
Or8b55 A T 9: 38,727,482 (GRCm39) I228F possibly damaging Het
Parp4 A T 14: 56,896,746 (GRCm39) R1923S unknown Het
Pcm1 T C 8: 41,729,002 (GRCm39) V658A probably benign Het
Pkhd1l1 A G 15: 44,322,791 (GRCm39) S26G probably benign Het
Prom1 A T 5: 44,184,081 (GRCm39) H433Q possibly damaging Het
Rab7 T C 6: 87,982,063 (GRCm39) D104G probably damaging Het
Rabgap1l A G 1: 160,551,632 (GRCm39) V282A possibly damaging Het
Rock1 C G 18: 10,070,263 (GRCm39) R1270T probably benign Het
Sdhaf4 C T 1: 24,035,370 (GRCm39) G93R probably damaging Het
Sec24a T C 11: 51,595,228 (GRCm39) T910A probably benign Het
Sesn1 A G 10: 41,779,778 (GRCm39) H345R possibly damaging Het
Snx4 T A 16: 33,106,428 (GRCm39) probably null Het
Tchh A G 3: 93,351,439 (GRCm39) E293G unknown Het
Ulk2 T A 11: 61,682,335 (GRCm39) T727S probably benign Het
Usp53 T C 3: 122,729,706 (GRCm39) E756G probably damaging Het
Vmn2r68 G A 7: 84,871,123 (GRCm39) A720V probably benign Het
Vmn2r79 A G 7: 86,645,839 (GRCm39) N56S possibly damaging Het
Washc5 A T 15: 59,235,118 (GRCm39) Y263* probably null Het
Zfp119b A T 17: 56,245,639 (GRCm39) C516S probably damaging Het
Other mutations in Rdh13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Rdh13 APN 7 4,445,694 (GRCm39) missense probably benign 0.00
IGL01339:Rdh13 APN 7 4,430,623 (GRCm39) missense probably damaging 1.00
IGL01778:Rdh13 APN 7 4,433,388 (GRCm39) splice site probably null
IGL02269:Rdh13 APN 7 4,448,497 (GRCm39) missense possibly damaging 0.95
IGL02749:Rdh13 APN 7 4,430,703 (GRCm39) missense probably damaging 1.00
IGL02820:Rdh13 APN 7 4,438,059 (GRCm39) missense probably damaging 1.00
R0524:Rdh13 UTSW 7 4,447,296 (GRCm39) missense probably damaging 1.00
R1698:Rdh13 UTSW 7 4,430,790 (GRCm39) missense probably damaging 0.97
R2111:Rdh13 UTSW 7 4,448,482 (GRCm39) missense probably benign
R4811:Rdh13 UTSW 7 4,445,652 (GRCm39) missense probably benign 0.11
R7359:Rdh13 UTSW 7 4,430,696 (GRCm39) missense probably benign 0.37
R8887:Rdh13 UTSW 7 4,434,522 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGATGAGAGCATGGCCAGC -3'
(R):5'- TAGGTTCCCTGGGACTTCAG -3'

Sequencing Primer
(F):5'- CCAGCAGCAGTCTTGGTAAC -3'
(R):5'- ACTTCAGGGCAGCTTCCAG -3'
Posted On 2014-10-02