Incidental Mutation 'R6655:Akr1b1'
ID 526587
Institutional Source Beutler Lab
Gene Symbol Akr1b1
Ensembl Gene ENSMUSG00000001642
Gene Name aldo-keto reductase family 1 member B
Synonyms Aldr1, Ahr1, AR, Ahr-1, Akr1b3, ALR2, Aldor1
MMRRC Submission 044776-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.349) question?
Stock # R6655 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 34280865-34294424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34286939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 206 (V206M)
Ref Sequence ENSEMBL: ENSMUSP00000100045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102980] [ENSMUST00000154655]
AlphaFold P45376
Predicted Effect possibly damaging
Transcript: ENSMUST00000102980
AA Change: V206M

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100045
Gene: ENSMUSG00000001642
AA Change: V206M

Pfam:Aldo_ket_red 13 294 4.1e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142761
Predicted Effect probably benign
Transcript: ENSMUST00000154655
SMART Domains Protein: ENSMUSP00000114391
Gene: ENSMUSG00000001642

Pfam:Aldo_ket_red 15 176 9.2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201392
Meta Mutation Damage Score 0.0747 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased drinking, increased urination, and dilation of the renal tubules. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 T A 4: 144,431,815 (GRCm39) D130V probably damaging Het
Alg3 T A 16: 20,427,776 (GRCm39) Y12F probably benign Het
Arhgef28 A G 13: 98,036,163 (GRCm39) Y1699H probably damaging Het
Cd109 A G 9: 78,592,220 (GRCm39) D778G probably benign Het
Dlc1 A G 8: 37,039,870 (GRCm39) V1430A probably damaging Het
Dscaml1 G A 9: 45,658,235 (GRCm39) V1669I probably benign Het
Fkbp8 A G 8: 70,985,320 (GRCm39) Y278C probably damaging Het
Gm5160 T C 18: 14,558,187 (GRCm39) F88S possibly damaging Het
Kcnh1 A G 1: 192,095,391 (GRCm39) N483S possibly damaging Het
Lrp2 A G 2: 69,284,202 (GRCm39) S3859P probably benign Het
Myof T C 19: 37,923,239 (GRCm39) N1351S probably damaging Het
Nbn A G 4: 15,981,696 (GRCm39) E596G probably damaging Het
Neurl4 T C 11: 69,801,742 (GRCm39) probably null Het
Nol8 T C 13: 49,807,868 (GRCm39) L10P probably damaging Het
Or2t46 T A 11: 58,472,036 (GRCm39) M122K probably damaging Het
Or6c213 T C 10: 129,573,956 (GRCm39) T277A possibly damaging Het
Pex26 T C 6: 121,167,170 (GRCm39) probably benign Het
Rab3gap2 T C 1: 184,982,208 (GRCm39) M420T probably damaging Het
Samd9l C A 6: 3,377,247 (GRCm39) V5L probably benign Het
Sec22b T A 3: 97,821,964 (GRCm39) probably null Het
Shank1 A G 7: 43,976,644 (GRCm39) I581V unknown Het
Ssbp2 C T 13: 91,812,268 (GRCm39) P105L probably damaging Het
Ttll9 T C 2: 152,842,223 (GRCm39) probably null Het
Veph1 T A 3: 66,113,034 (GRCm39) I257F possibly damaging Het
Vmn1r222 A C 13: 23,416,886 (GRCm39) I109S probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wnt16 T C 6: 22,290,965 (GRCm39) V131A probably damaging Het
Zfp747l1 A G 7: 126,983,512 (GRCm39) L530P possibly damaging Het
Other mutations in Akr1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02806:Akr1b1 APN 6 34,281,254 (GRCm39) missense probably damaging 1.00
R0567:Akr1b1 UTSW 6 34,281,280 (GRCm39) splice site probably null
R0611:Akr1b1 UTSW 6 34,286,577 (GRCm39) missense probably benign 0.02
R1564:Akr1b1 UTSW 6 34,283,470 (GRCm39) splice site probably null
R2445:Akr1b1 UTSW 6 34,287,869 (GRCm39) missense probably benign 0.26
R2507:Akr1b1 UTSW 6 34,286,999 (GRCm39) missense probably damaging 1.00
R4323:Akr1b1 UTSW 6 34,287,862 (GRCm39) missense probably benign 0.00
R4373:Akr1b1 UTSW 6 34,281,202 (GRCm39) utr 3 prime probably benign
R4606:Akr1b1 UTSW 6 34,283,599 (GRCm39) unclassified probably benign
R5513:Akr1b1 UTSW 6 34,293,581 (GRCm39) intron probably benign
R6031:Akr1b1 UTSW 6 34,289,609 (GRCm39) missense probably benign 0.07
R6031:Akr1b1 UTSW 6 34,289,609 (GRCm39) missense probably benign 0.07
R6560:Akr1b1 UTSW 6 34,286,939 (GRCm39) missense possibly damaging 0.56
R6561:Akr1b1 UTSW 6 34,286,939 (GRCm39) missense possibly damaging 0.56
R6632:Akr1b1 UTSW 6 34,286,939 (GRCm39) missense possibly damaging 0.56
R6654:Akr1b1 UTSW 6 34,286,939 (GRCm39) missense possibly damaging 0.56
R6657:Akr1b1 UTSW 6 34,286,939 (GRCm39) missense possibly damaging 0.56
R6658:Akr1b1 UTSW 6 34,286,939 (GRCm39) missense possibly damaging 0.56
R6662:Akr1b1 UTSW 6 34,286,939 (GRCm39) missense possibly damaging 0.56
R8209:Akr1b1 UTSW 6 34,288,867 (GRCm39) missense probably damaging 0.99
R8226:Akr1b1 UTSW 6 34,288,867 (GRCm39) missense probably damaging 0.99
R8921:Akr1b1 UTSW 6 34,289,639 (GRCm39) missense probably benign 0.00
R9802:Akr1b1 UTSW 6 34,283,508 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-07-23