Incidental Mutation 'R5324:Rdh16'
ID 405025
Institutional Source Beutler Lab
Gene Symbol Rdh16
Ensembl Gene ENSMUSG00000069456
Gene Name retinol dehydrogenase 16
Synonyms Rdh6, cis-retinol/androgen dehydrogenase 1, CRAD1
MMRRC Submission 042907-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5324 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127636959-127651715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127637136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 24 (V24M)
Ref Sequence ENSEMBL: ENSMUSP00000071573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071646] [ENSMUST00000125163] [ENSMUST00000125163] [ENSMUST00000125163] [ENSMUST00000155739]
AlphaFold O54909
Predicted Effect probably damaging
Transcript: ENSMUST00000071646
AA Change: V24M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071573
Gene: ENSMUSG00000069456
AA Change: V24M

DomainStartEndE-ValueType
Pfam:adh_short 30 220 5.9e-42 PFAM
Pfam:DUF1776 43 303 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125163
Predicted Effect probably benign
Transcript: ENSMUST00000125163
Predicted Effect probably benign
Transcript: ENSMUST00000125163
Predicted Effect possibly damaging
Transcript: ENSMUST00000155739
AA Change: V24M

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115993
Gene: ENSMUSG00000069456
AA Change: V24M

DomainStartEndE-ValueType
Pfam:adh_short 30 107 3.3e-8 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ap5b1 G A 19: 5,619,863 (GRCm39) E428K possibly damaging Het
Bmp2 C T 2: 133,403,279 (GRCm39) R277* probably null Het
Cbl A T 9: 44,065,551 (GRCm39) S659T probably damaging Het
Col14a1 A T 15: 55,201,841 (GRCm39) H43L unknown Het
Corin A G 5: 72,592,600 (GRCm39) C133R probably damaging Het
Cyp1a1 A G 9: 57,609,652 (GRCm39) N401S probably benign Het
Dip2a T C 10: 76,132,227 (GRCm39) D508G probably damaging Het
Dnah2 T A 11: 69,348,819 (GRCm39) H2556L probably benign Het
Dock8 T C 19: 25,140,458 (GRCm39) F1333L probably benign Het
Epg5 A G 18: 78,005,660 (GRCm39) K717E possibly damaging Het
Fmn2 G A 1: 174,436,446 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hbp1 T C 12: 31,978,617 (GRCm39) N510S probably damaging Het
Lrguk T C 6: 34,050,732 (GRCm39) S397P possibly damaging Het
Mmrn1 A T 6: 60,953,570 (GRCm39) D617V probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
N6amt1 A G 16: 87,151,241 (GRCm39) D34G probably damaging Het
Nktr A T 9: 121,556,412 (GRCm39) D30V probably damaging Het
Or52ab7 T A 7: 102,978,257 (GRCm39) M188K probably damaging Het
Or5w8 A T 2: 87,688,040 (GRCm39) I174F probably damaging Het
Or6c212 T A 10: 129,558,814 (GRCm39) I200L probably benign Het
Pabpc1 A G 15: 36,600,869 (GRCm39) F314L probably damaging Het
Papln G A 12: 83,821,345 (GRCm39) V226M probably damaging Het
Parp12 A T 6: 39,079,546 (GRCm39) D321E probably damaging Het
Plch2 T A 4: 155,068,991 (GRCm39) T1107S probably benign Het
Psma2 T C 13: 14,799,802 (GRCm39) L182P probably damaging Het
Rcl1 A G 19: 29,105,401 (GRCm39) Y196C probably benign Het
Rpe65 A G 3: 159,310,041 (GRCm39) T105A possibly damaging Het
Serpini1 T C 3: 75,547,601 (GRCm39) I371T probably damaging Het
Tet2 T C 3: 133,191,674 (GRCm39) N920S probably benign Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tmprss11f T A 5: 86,704,837 (GRCm39) D27V possibly damaging Het
Zfp747l1 G T 7: 126,984,079 (GRCm39) probably benign Het
Zxdc T A 6: 90,350,782 (GRCm39) I411N probably damaging Het
Other mutations in Rdh16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Rdh16 APN 10 127,649,365 (GRCm39) missense probably benign 0.01
IGL01618:Rdh16 APN 10 127,637,176 (GRCm39) missense probably damaging 1.00
IGL02125:Rdh16 APN 10 127,647,188 (GRCm39) intron probably benign
IGL02820:Rdh16 APN 10 127,649,470 (GRCm39) missense probably benign 0.01
IGL03091:Rdh16 APN 10 127,649,502 (GRCm39) utr 3 prime probably benign
R1674:Rdh16 UTSW 10 127,637,226 (GRCm39) missense probably benign 0.25
R4616:Rdh16 UTSW 10 127,637,382 (GRCm39) splice site probably null
R4675:Rdh16 UTSW 10 127,637,316 (GRCm39) missense probably damaging 1.00
R7191:Rdh16 UTSW 10 127,649,287 (GRCm39) missense probably benign 0.00
R7935:Rdh16 UTSW 10 127,637,334 (GRCm39) missense probably benign 0.04
R9263:Rdh16 UTSW 10 127,649,306 (GRCm39) missense probably benign
X0013:Rdh16 UTSW 10 127,637,199 (GRCm39) missense probably damaging 1.00
X0066:Rdh16 UTSW 10 127,637,199 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTGTTAAAGTCCAGAGTCAC -3'
(R):5'- TGTCTCCAGCCTGTCAGATG -3'

Sequencing Primer
(F):5'- AATGCAGAGGCCTGTACGTC -3'
(R):5'- CCAGCCTGTCAGATGTCTTG -3'
Posted On 2016-07-22