Mutagenetix > Incidental Mutation

Incidental Mutation 'R2507:Akr1b1'

251318

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

040413-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.349) question?

Stock #

R2507 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34280865-34294424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34286999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 186 (E186K)

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: E186K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100045
Gene: ENSMUSG00000001642
AA Change: E186K

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	15	176	9.2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201392

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,497,681 (GRCm39)		probably benign	Het
4930535I16Rik	G	A	4: 123,811,740 (GRCm39)		probably benign	Het
Apc	A	T	18: 34,449,590 (GRCm39)	N2128I	possibly damaging	Het
Api5	T	C	2: 94,260,162 (GRCm39)	I31M	probably damaging	Het
Armcx4	T	G	X: 133,596,128 (GRCm39)	V2012G	possibly damaging	Het
Aurka	T	C	2: 172,212,365 (GRCm39)	E4G	probably benign	Het
B4galt5	T	A	2: 167,148,558 (GRCm39)	M187L	probably benign	Het
Bsn	T	C	9: 107,993,313 (GRCm39)	D813G	probably damaging	Het
Bub1	A	T	2: 127,643,343 (GRCm39)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,492,687 (GRCm39)		probably null	Het
Cdh6	A	G	15: 13,041,447 (GRCm39)	I539T	probably benign	Het
Cdhr3	T	C	12: 33,088,914 (GRCm39)	D756G	probably benign	Het
Cenph	A	T	13: 100,907,744 (GRCm39)	D85E	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clec2h	A	G	6: 128,650,945 (GRCm39)	N75S	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,029 (GRCm39)	V51E	possibly damaging	Het
Cpne3	A	T	4: 19,553,871 (GRCm39)	N53K	probably damaging	Het
Cpt1b	A	G	15: 89,303,301 (GRCm39)	F585L	probably benign	Het
Daam1	G	A	12: 72,021,997 (GRCm39)	D732N	probably damaging	Het
Dner	A	T	1: 84,560,801 (GRCm39)	C115S	probably damaging	Het
Dop1a	T	A	9: 86,395,170 (GRCm39)	F759Y	probably damaging	Het
Dst	T	C	1: 34,050,990 (GRCm39)	Y29H	probably damaging	Het
Dst	T	C	1: 34,227,498 (GRCm39)	V1875A	possibly damaging	Het
Duox1	A	G	2: 122,163,619 (GRCm39)	D817G	probably benign	Het
Emc2	A	T	15: 43,375,094 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,404,296 (GRCm39)	E51V	probably null	Het
Exoc2	A	G	13: 31,066,348 (GRCm39)	Y443H	possibly damaging	Het
Fbf1	T	C	11: 116,046,252 (GRCm39)	R200G	probably benign	Het
Fdxr	G	A	11: 115,162,806 (GRCm39)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,452,610 (GRCm39)	P41A	probably damaging	Het
Galnt4	A	G	10: 98,945,148 (GRCm39)	K291R	possibly damaging	Het
Gm12695	T	A	4: 96,642,426 (GRCm39)	E301V	probably damaging	Het
Gopc	C	T	10: 52,229,422 (GRCm39)		probably null	Het
Gria1	A	T	11: 57,180,146 (GRCm39)	T699S	probably null	Het
Gsr	T	G	8: 34,170,316 (GRCm39)	D200E	probably benign	Het
Ikzf2	G	A	1: 69,578,447 (GRCm39)	A282V	probably benign	Het
Irak2	T	C	6: 113,624,639 (GRCm39)	I45T	probably damaging	Het
Irx1	T	C	13: 72,107,939 (GRCm39)	K248E	probably damaging	Het
Kcns3	A	C	12: 11,142,087 (GRCm39)	V204G	possibly damaging	Het
Lmo1	C	A	7: 108,739,848 (GRCm39)	M91I	probably damaging	Het
Map3k21	A	G	8: 126,666,677 (GRCm39)	D623G	possibly damaging	Het
Map4	A	G	9: 109,866,551 (GRCm39)		probably benign	Het
Mark3	T	A	12: 111,593,676 (GRCm39)	V236E	probably damaging	Het
Med23	A	G	10: 24,786,711 (GRCm39)	D939G	probably damaging	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
N4bp2	T	A	5: 65,947,404 (GRCm39)	D11E	probably benign	Het
Ntng2	T	C	2: 29,097,531 (GRCm39)	N310S	probably damaging	Het
Or10ak7	T	C	4: 118,791,122 (GRCm39)	M308V	probably benign	Het
Or6b3	A	G	1: 92,439,100 (GRCm39)	S217P	probably damaging	Het
Pcolce	A	G	5: 137,605,313 (GRCm39)	V260A	possibly damaging	Het
Pds5b	C	A	5: 150,679,893 (GRCm39)	T533K	possibly damaging	Het
Pecr	A	G	1: 72,301,135 (GRCm39)	Y268H	probably benign	Het
Phax	T	A	18: 56,719,956 (GRCm39)	F299Y	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pramel32	T	A	4: 88,547,448 (GRCm39)	K161N	possibly damaging	Het
Prpf39	T	A	12: 65,104,589 (GRCm39)	F551L	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ralgapa1	G	A	12: 55,764,986 (GRCm39)	P889S	probably damaging	Het
Rpap1	A	G	2: 119,610,535 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,797,757 (GRCm39)	S645P	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Spata7	G	T	12: 98,624,709 (GRCm39)	A172S	probably benign	Het
Stk35	A	G	2: 129,643,435 (GRCm39)	T140A	probably damaging	Het
Thop1	T	G	10: 80,906,098 (GRCm39)	M1R	probably null	Het
Tlr1	T	C	5: 65,082,639 (GRCm39)	Y646C	probably damaging	Het
Tpp2	A	G	1: 44,040,609 (GRCm39)	Y290C	probably benign	Het
Tpr	A	G	1: 150,268,695 (GRCm39)	M1V	probably null	Het
Trim6	T	C	7: 103,877,392 (GRCm39)	F161L	probably damaging	Het
Ubash3b	T	C	9: 41,068,650 (GRCm39)	K25E	possibly damaging	Het
Unc45b	G	A	11: 82,830,963 (GRCm39)		probably null	Het
Unc80	A	G	1: 66,651,266 (GRCm39)	N1537S	possibly damaging	Het
Usb1	T	C	8: 96,069,752 (GRCm39)	F100S	probably damaging	Het
Vmn1r17	C	A	6: 57,338,244 (GRCm39)	L40F	probably damaging	Het
Vmn1r233	A	T	17: 21,214,110 (GRCm39)	M280K	probably benign	Het
Zfp37	A	T	4: 62,109,493 (GRCm39)	C524S	probably damaging	Het
Zfp426	T	C	9: 20,381,727 (GRCm39)	K420R	probably benign	Het

Other mutations in Akr1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9802:Akr1b1	UTSW	6	34,283,508 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GAAGTGTTCTCTGTGCCAATCAATC -3'
(R):5'- AAGGCCAGAGAATGCCTTGC -3'

Sequencing Primer
(F):5'- GCCAATCAATCATATTCCCTTTGGTG -3'
(R):5'- GCCTTGCAGACTTATGACCATAGAG -3'

Posted On

2014-12-04