Incidental Mutation 'R5095:Rdh10'
ID 395796
Institutional Source Beutler Lab
Gene Symbol Rdh10
Ensembl Gene ENSMUSG00000025921
Gene Name retinol dehydrogenase 10 (all-trans)
Synonyms 3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e
MMRRC Submission 042684-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.888) question?
Stock # R5095 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 16176106-16202774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16201609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 332 (T332A)
Ref Sequence ENSEMBL: ENSMUSP00000027053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027053]
AlphaFold Q8VCH7
Predicted Effect probably benign
Transcript: ENSMUST00000027053
AA Change: T332A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: T332A

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 noncoding transcript
Transcript: ENSMUST00000152626
Meta Mutation Damage Score 0.0685 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik G C 10: 21,301,492 (GRCm39) noncoding transcript Het
Adgrv1 C T 13: 81,243,606 (GRCm39) V6265I probably benign Het
Agbl1 G A 7: 76,369,881 (GRCm39) G660D probably damaging Het
Arap2 A G 5: 62,811,392 (GRCm39) Y1140H probably damaging Het
Atp6v1c1 T C 15: 38,679,657 (GRCm39) probably null Het
C1rb A T 6: 124,557,272 (GRCm39) R470W possibly damaging Het
Caskin2 T C 11: 115,691,564 (GRCm39) T1074A probably benign Het
Cdh19 T A 1: 110,882,391 (GRCm39) T34S probably benign Het
Csnk1a1 T A 18: 61,708,547 (GRCm39) Y175N probably damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Flt4 T A 11: 49,517,986 (GRCm39) V342D possibly damaging Het
Frmd5 A T 2: 121,379,402 (GRCm39) C394S possibly damaging Het
Gm5414 T G 15: 101,532,473 (GRCm39) N550T probably benign Het
Hcn3 C A 3: 89,057,230 (GRCm39) R456L probably damaging Het
Htt T C 5: 34,981,739 (GRCm39) V893A possibly damaging Het
Ift46 A G 9: 44,698,146 (GRCm39) D203G probably damaging Het
Itga10 G T 3: 96,555,480 (GRCm39) V145L probably benign Het
Kcnh6 A G 11: 105,908,080 (GRCm39) D232G possibly damaging Het
Mbtd1 T C 11: 93,820,497 (GRCm39) S431P probably damaging Het
Mmp27 T A 9: 7,572,159 (GRCm39) W120R probably damaging Het
Mmp27 A T 9: 7,579,001 (GRCm39) D418V probably damaging Het
Myo5a A G 9: 75,059,302 (GRCm39) D510G probably damaging Het
Myo5a A T 9: 75,091,671 (GRCm39) K1179* probably null Het
Neto1 T C 18: 86,416,406 (GRCm39) S38P probably benign Het
Nos3 A G 5: 24,573,916 (GRCm39) probably benign Het
Nuggc C T 14: 65,872,539 (GRCm39) R512* probably null Het
Oas1e T A 5: 120,932,329 (GRCm39) K105* probably null Het
Omd T A 13: 49,743,174 (GRCm39) S75T possibly damaging Het
Or10a3m T C 7: 108,313,019 (GRCm39) F141S probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Pbrm1 A G 14: 30,754,487 (GRCm39) N190S probably benign Het
Picalm T C 7: 89,819,841 (GRCm39) F85L probably damaging Het
Polg A G 7: 79,110,048 (GRCm39) V360A possibly damaging Het
Prex1 T C 2: 166,423,841 (GRCm39) D1017G probably damaging Het
Prss56 G C 1: 87,115,833 (GRCm39) R569P probably damaging Het
Rab6b G A 9: 103,017,583 (GRCm39) G25R probably damaging Het
Rheb A T 5: 25,012,639 (GRCm39) M115K probably benign Het
Rnf149 A T 1: 39,594,737 (GRCm39) D321E probably benign Het
Rps28 C T 17: 34,042,177 (GRCm39) probably null Het
Slc6a20b A G 9: 123,424,119 (GRCm39) V616A probably benign Het
Smarcc2 A G 10: 128,305,169 (GRCm39) K300R probably damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spata31h1 G T 10: 82,119,501 (GRCm39) A4503E probably damaging Het
Srp68 C T 11: 116,139,573 (GRCm39) V459M probably damaging Het
Stxbp4 C T 11: 90,439,801 (GRCm39) V346I probably benign Het
Syne2 A G 12: 75,999,600 (GRCm39) D2331G probably damaging Het
Ttn A T 2: 76,564,536 (GRCm39) Y28534N probably damaging Het
Usp44 A T 10: 93,682,707 (GRCm39) I386F possibly damaging Het
Vmn2r15 T C 5: 109,436,317 (GRCm39) probably null Het
Vmn2r72 T A 7: 85,387,061 (GRCm39) L834F probably damaging Het
Vps13b T A 15: 35,923,348 (GRCm39) I3741K probably damaging Het
Zdbf2 A G 1: 63,348,232 (GRCm39) T2204A possibly damaging Het
Zfp607b T A 7: 27,393,061 (GRCm39) probably benign 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
R2896:Rdh10 UTSW 1 16,176,329 (GRCm39) splice site probably null
R4623:Rdh10 UTSW 1 16,201,287 (GRCm39) splice site probably benign
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'- TCGTGACATTCATGAAGAGGTGAG -3'
(R):5'- GCTCACAGTTTTCAAGCACAC -3'

Sequencing Primer
(F):5'- TGACATTCATGAAGAGGTGAGTGAGG -3'
(R):5'- TGATAGAAACGGCACTCC -3'
Posted On 2016-06-21