Incidental Mutation 'R9802:Akr1b1'
ID 735254
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.349) question?
Stock # R9802 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 34280865-34294424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34283508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 292 (Y292C)
Ref Sequence ENSEMBL: ENSMUSP00000100045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102980] [ENSMUST00000154655]
AlphaFold P45376
Predicted Effect probably benign
Transcript: ENSMUST00000102980
AA Change: Y292C

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100045
Gene: ENSMUSG00000001642
AA Change: Y292C

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 13 294 4.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154655
SMART Domains Protein: ENSMUSP00000114391
Gene: ENSMUSG00000001642

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 15 176 9.2e-27 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,786,054 (GRCm39) D673G probably benign Het
Alg8 T A 7: 97,027,486 (GRCm39) V118E possibly damaging Het
Alms1 T A 6: 85,606,220 (GRCm39) D2154E possibly damaging Het
Anln T C 9: 22,245,453 (GRCm39) I1029M probably damaging Het
Bltp3b G A 10: 89,615,755 (GRCm39) V133I probably benign Het
Bms1 T A 6: 118,368,147 (GRCm39) K1039I probably damaging Het
Cdh11 G A 8: 103,391,276 (GRCm39) T320I probably damaging Het
Col4a2 A G 8: 11,493,104 (GRCm39) N1299S probably benign Het
Dclk3 A G 9: 111,298,244 (GRCm39) D596G probably damaging Het
Dnah7a A T 1: 53,561,388 (GRCm39) C2090S probably benign Het
Dock7 T C 4: 98,846,384 (GRCm39) D1749G unknown Het
Egr1 T C 18: 34,995,674 (GRCm39) F152S probably damaging Het
Eln C A 5: 134,744,559 (GRCm39) A479S unknown Het
Gipc3 G A 10: 81,179,097 (GRCm39) probably benign Het
Hcfc2 G T 10: 82,574,269 (GRCm39) G148* probably null Het
Hmcn1 T C 1: 150,684,391 (GRCm39) D393G probably benign Het
Hnf4g A T 3: 3,699,404 (GRCm39) N45Y probably benign Het
Ighd G A 12: 113,371,455 (GRCm39) P265S Het
Igkv3-10 T C 6: 70,550,001 (GRCm39) V49A probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Jmjd1c A T 10: 67,060,745 (GRCm39) I852F possibly damaging Het
Lhx5 T A 5: 120,572,663 (GRCm39) V94E possibly damaging Het
Map3k13 C A 16: 21,740,518 (GRCm39) P615H possibly damaging Het
Med12l T C 3: 59,169,346 (GRCm39) W1579R probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mib1 T A 18: 10,798,494 (GRCm39) L785H probably damaging Het
Mrgpra6 C T 7: 46,835,533 (GRCm39) R296K probably benign Het
Mutyh A G 4: 116,676,485 (GRCm39) S486G probably benign Het
Naa15 T A 3: 51,349,370 (GRCm39) Y96* probably null Het
Naip1 C G 13: 100,562,713 (GRCm39) E817D probably benign Het
Nxf1 G A 19: 8,739,772 (GRCm39) G42D probably damaging Het
Obscn T C 11: 58,885,189 (GRCm39) Y8023C unknown Het
Opn5 G A 17: 42,903,582 (GRCm39) T251I possibly damaging Het
Or4c11b T A 2: 88,625,491 (GRCm39) I255K probably damaging Het
Plcl1 T C 1: 55,735,241 (GRCm39) L194P probably damaging Het
Prkab1 T C 5: 116,162,274 (GRCm39) E12G probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpinb9e T C 13: 33,439,078 (GRCm39) F168S probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skint3 T A 4: 112,111,094 (GRCm39) V73E probably damaging Het
Slc47a1 A T 11: 61,240,342 (GRCm39) C445S probably benign Het
Syne2 A G 12: 76,037,197 (GRCm39) E3792G probably damaging Het
T G A 17: 8,654,988 (GRCm39) V173M probably damaging Het
Tsr1 T C 11: 74,799,225 (GRCm39) M802T possibly damaging Het
Ttll4 A G 1: 74,720,482 (GRCm39) N499S probably benign Het
Txnrd3 T A 6: 89,640,176 (GRCm39) probably null Het
Vmn1r195 T C 13: 22,463,273 (GRCm39) Y248H probably damaging Het
Ybx3 G A 6: 131,345,426 (GRCm39) R316C probably benign Het
Zc3h7b C T 15: 81,676,505 (GRCm39) P749L probably damaging Het
Zfp607a A T 7: 27,578,704 (GRCm39) K591N probably 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
R6655: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
Predicted Primers PCR Primer
(F):5'- CTGTATGGATTAGGAGACACGG -3'
(R):5'- CTGCTTGGAAATCCTGGAAGG -3'

Sequencing Primer
(F):5'- CACGGTCTGTGGGAAAGC -3'
(R):5'- AGAAGTCTGCACCTCTGGAG -3'
Posted On 2022-11-14