Incidental Mutation 'R8209:Akr1b1'
ID 636056
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 067632-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.379) question?
Stock # R8209 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 34280865-34294424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 34288867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 114 (T114R)
Ref Sequence ENSEMBL: ENSMUSP00000100045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102980] [ENSMUST00000154655]
AlphaFold P45376
Predicted Effect probably damaging
Transcript: ENSMUST00000102980
AA Change: T114R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100045
Gene: ENSMUSG00000001642
AA Change: T114R

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 13 294 4.1e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154655
AA Change: T137R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114391
Gene: ENSMUSG00000001642
AA Change: T137R

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 15 176 9.2e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,094,195 (GRCm39) N27S probably damaging Het
Alx4 T C 2: 93,505,696 (GRCm39) M266T possibly damaging Het
Arhgap21 C T 2: 20,876,556 (GRCm39) D820N probably damaging Het
Clec4a1 A G 6: 122,907,773 (GRCm39) S154G probably damaging Het
Col11a2 T C 17: 34,266,253 (GRCm39) probably null Het
Dnaaf2 A T 12: 69,244,866 (GRCm39) V65E probably damaging Het
Dnah14 A G 1: 181,623,110 (GRCm39) E3996G possibly damaging Het
Dsg1b A G 18: 20,541,947 (GRCm39) Y818C probably benign Het
Dzip3 C T 16: 48,798,307 (GRCm39) G133S probably damaging Het
Efcab6 T C 15: 83,788,456 (GRCm39) Y946C probably benign Het
Eprs1 A G 1: 185,139,812 (GRCm39) E967G possibly damaging Het
F5 T C 1: 164,021,959 (GRCm39) V1478A probably benign Het
Fchsd2 C T 7: 100,931,679 (GRCm39) P745L probably damaging Het
Gart T C 16: 91,425,041 (GRCm39) I661V possibly damaging Het
Gm14295 T A 2: 176,502,970 (GRCm39) I820K unknown Het
Grb10 G T 11: 11,901,533 (GRCm39) L214M probably damaging Het
Gria2 A G 3: 80,616,764 (GRCm39) V396A probably benign Het
Il17rc C A 6: 113,449,771 (GRCm39) Q126K probably benign Het
Ipo8 A G 6: 148,698,176 (GRCm39) I615T possibly damaging Het
Irak4 T A 15: 94,456,244 (GRCm39) L277Q probably damaging Het
Islr T C 9: 58,065,340 (GRCm39) S56G probably damaging Het
Krt78 A T 15: 101,855,480 (GRCm39) M777K possibly damaging Het
Lrch4 A G 5: 137,637,997 (GRCm39) H93R Het
Muc21 T C 17: 35,930,599 (GRCm39) probably benign Het
Nbeal1 A T 1: 60,316,336 (GRCm39) K1846N probably damaging Het
Nedd1 T A 10: 92,527,797 (GRCm39) M466L probably benign Het
Nup107 T C 10: 117,593,836 (GRCm39) K786E probably benign Het
Or51f23b T C 7: 102,402,950 (GRCm39) Y62C probably benign Het
Or5ak25 T A 2: 85,268,981 (GRCm39) I174F probably damaging Het
Or5m12 T C 2: 85,734,547 (GRCm39) I284V probably benign Het
Phc2 T C 4: 128,603,299 (GRCm39) L143P probably benign Het
Pkhd1l1 A G 15: 44,437,803 (GRCm39) N3533D possibly damaging Het
Plpp1 A T 13: 113,003,465 (GRCm39) T230S probably benign Het
Prokr2 C A 2: 132,215,961 (GRCm39) A167S probably damaging Het
Qser1 C T 2: 104,619,070 (GRCm39) A491T probably benign Het
Rc3h2 T A 2: 37,267,001 (GRCm39) Y1040F possibly damaging Het
Rgl2 C T 17: 34,151,501 (GRCm39) L182F possibly damaging Het
Rnf130 T C 11: 49,962,097 (GRCm39) V181A probably benign Het
Scn7a T G 2: 66,531,204 (GRCm39) I558L possibly damaging Het
Shtn1 T C 19: 58,992,328 (GRCm39) I417V possibly damaging Het
Slco1a5 T G 6: 142,208,408 (GRCm39) N128H probably damaging Het
Smg5 C T 3: 88,258,838 (GRCm39) A603V probably benign Het
Svs3b T A 2: 164,098,140 (GRCm39) E60D possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Timm44 A T 8: 4,316,844 (GRCm39) M263K probably benign Het
Tmem150b A G 7: 4,723,691 (GRCm39) L162P probably damaging Het
Tmprss11f A G 5: 86,687,566 (GRCm39) V114A probably damaging Het
Trak1 C T 9: 121,280,793 (GRCm39) T394I probably benign Het
Tram2 A C 1: 21,075,801 (GRCm39) Y206D probably damaging Het
Trhde C T 10: 114,403,133 (GRCm39) V497M probably damaging Het
Trpc2 A G 7: 101,737,482 (GRCm39) M425V possibly damaging Het
Tuba1b C T 15: 98,829,591 (GRCm39) G410S probably benign Het
Vmn2r1 A G 3: 63,997,199 (GRCm39) D285G possibly damaging Het
Zfp536 A T 7: 37,268,080 (GRCm39) S445R probably benign Het
Zfp606 A T 7: 12,227,234 (GRCm39) T452S probably benign 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
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
(F):5'- ACCAGTGGATCAGACAGTGC -3'
(R):5'- AACTCTCCAGCCACTCTGAG -3'

Sequencing Primer
(F):5'- CAGTGGATCAGACAGTGCAGGAG -3'
(R):5'- CACTCTGAGCACCGTGGTTATG -3'
Posted On 2020-07-13