Incidental Mutation 'R2896:Rdh10'
ID 260779
Institutional Source Beutler Lab
Gene Symbol Rdh10
Ensembl Gene ENSMUSG00000025921
Gene Name retinol dehydrogenase 10 (all-trans)
Synonyms 3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e
MMRRC Submission 040484-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.888) question?
Stock # R2896 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 16176106-16202774 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 16176329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000027053] [ENSMUST00000058437]
AlphaFold Q8VCH7
Predicted Effect probably null
Transcript: ENSMUST00000027053
AA Change: K30*
SMART Domains Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: K30*

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:KR 37 231 3.1e-8 PFAM
Pfam:adh_short 90 259 1.8e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000058437
SMART Domains Protein: ENSMUSP00000071616
Gene: ENSMUSG00000043716

DomainStartEndE-ValueType
Pfam:Ribosomal_L30_N 39 109 4.5e-31 PFAM
Pfam:Ribosomal_L30 112 162 1.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141217
Predicted Effect probably null
Transcript: ENSMUST00000149566
SMART Domains Protein: ENSMUSP00000118695
Gene: ENSMUSG00000043716

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Pfam:Ribosomal_L30_N 65 135 2.1e-31 PFAM
Pfam:Ribosomal_L30 138 188 3e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151017
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (30/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]
PHENOTYPE: Embryos homozygous for null or hypomorphic alleles exhibit mid-gestational lethality, reduced Retinoic Acid signaling and abnormal limb, craniofacial, somite and cardiac morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14b C T 9: 106,327,313 (GRCm39) R32C probably benign Het
Bpifb4 T G 2: 153,796,357 (GRCm39) probably benign Het
Cachd1 T A 4: 100,828,100 (GRCm39) L616Q probably damaging Het
Cmklr2 T A 1: 63,222,321 (GRCm39) I305L probably benign Het
Crebbp A G 16: 3,956,680 (GRCm39) L381P probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Esp6 T A 17: 40,873,834 (GRCm39) M7K possibly damaging Het
Fam83d G A 2: 158,627,898 (GRCm39) R529Q probably damaging Het
Gm26526 T G 7: 39,238,437 (GRCm39) noncoding transcript Het
Gm8374 T A 14: 18,537,084 (GRCm39) R47* probably null Het
Gss A G 2: 155,406,749 (GRCm39) L342P probably damaging Het
Ighv1-67 T A 12: 115,567,595 (GRCm39) T106S probably damaging Het
Kif21b T C 1: 136,081,955 (GRCm39) Y668H possibly damaging Het
Lcmt1 A G 7: 123,020,809 (GRCm39) R245G possibly damaging Het
Lpar6 A G 14: 73,476,716 (GRCm39) K226E probably damaging Het
Or11h23 T C 14: 50,947,973 (GRCm39) F62S probably damaging Het
Pcdh19 TGTCTCCTCCACGTC TGTC X: 132,582,058 (GRCm39) probably null Het
Pdcl A T 2: 37,245,702 (GRCm39) D100E possibly damaging Het
Phkg1 C A 5: 129,893,471 (GRCm39) K326N possibly damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Prss1 G A 6: 41,440,639 (GRCm39) W238* probably null Het
Ror1 T C 4: 99,953,477 (GRCm39) L21P unknown Het
Skint8 A G 4: 111,807,333 (GRCm39) I340V probably null Het
Spata18 T C 5: 73,815,145 (GRCm39) S85P probably damaging Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Ttll3 G T 6: 113,369,683 (GRCm39) A76S probably benign Het
Ttll4 T A 1: 74,724,517 (GRCm39) H562Q possibly damaging Het
Ubn1 A G 16: 4,873,083 (GRCm39) H35R possibly damaging Het
Ubr4 A G 4: 139,182,955 (GRCm39) probably null Het
Zfp456 T C 13: 67,515,416 (GRCm39) R97G possibly damaging Het
Other mutations in Rdh10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Rdh10 APN 1 16,178,099 (GRCm39) missense probably benign
IGL01646:Rdh10 APN 1 16,178,246 (GRCm39) missense possibly damaging 0.90
IGL01820:Rdh10 APN 1 16,198,483 (GRCm39) missense possibly damaging 0.84
IGL02377:Rdh10 APN 1 16,176,438 (GRCm39) nonsense probably null
IGL03212:Rdh10 APN 1 16,178,051 (GRCm39) missense probably benign 0.03
R0039:Rdh10 UTSW 1 16,199,508 (GRCm39) missense probably damaging 0.97
R0042:Rdh10 UTSW 1 16,178,260 (GRCm39) unclassified probably benign
R0042:Rdh10 UTSW 1 16,178,260 (GRCm39) unclassified probably benign
R0109:Rdh10 UTSW 1 16,176,489 (GRCm39) missense probably damaging 0.97
R0569:Rdh10 UTSW 1 16,199,517 (GRCm39) missense probably damaging 1.00
R1272:Rdh10 UTSW 1 16,178,240 (GRCm39) missense probably damaging 1.00
R1633:Rdh10 UTSW 1 16,198,420 (GRCm39) missense possibly damaging 0.90
R4623:Rdh10 UTSW 1 16,201,287 (GRCm39) splice site probably benign
R5095:Rdh10 UTSW 1 16,201,609 (GRCm39) missense probably benign 0.01
R5158:Rdh10 UTSW 1 16,178,221 (GRCm39) missense probably damaging 1.00
R5535:Rdh10 UTSW 1 16,201,408 (GRCm39) missense probably damaging 1.00
R6433:Rdh10 UTSW 1 16,178,079 (GRCm39) missense probably damaging 0.98
R6778:Rdh10 UTSW 1 16,176,408 (GRCm39) missense probably damaging 0.99
R6922:Rdh10 UTSW 1 16,176,255 (GRCm39) missense probably benign
R9145:Rdh10 UTSW 1 16,199,430 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAGTTGACAACTCCCGC -3'
(R):5'- TTACCTTGCAGAGCAGCAGC -3'

Sequencing Primer
(F):5'- TAACTCGCGGCTGTCACC -3'
(R):5'- GTTGATGTCCCAGAGAAC -3'
Posted On 2015-01-23