Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Cbr3'

92270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cbr3

Ensembl Gene

ENSMUSG00000022947

Gene Name

carbonyl reductase 3

Synonyms

1110001J05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

93480107-93487879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93480331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 40 (E40V)

Ref Sequence

ENSEMBL: ENSMUSP00000156328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039620] [ENSMUST00000231302]

AlphaFold

Q8K354

Predicted Effect

probably benign
Transcript: ENSMUST00000039620
AA Change: E40V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047712
Gene: ENSMUSG00000022947
AA Change: E40V

Domain	Start	End	E-Value	Type
Pfam:adh_short	6	151	4e-29	PFAM
Pfam:KR	7	102	9.1e-10	PFAM
Pfam:adh_short	183	243	4.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231302
AA Change: E40V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,589,716 (GRCm39)	M446R	possibly damaging	Het
Abca16	A	G	7: 120,140,500 (GRCm39)	N1599S	probably benign	Het
Ankib1	G	A	5: 3,763,146 (GRCm39)	Q528*	probably null	Het
Ano10	A	T	9: 122,088,606 (GRCm39)	L347M	possibly damaging	Het
Bag6	T	C	17: 35,361,992 (GRCm39)		probably benign	Het
Bpnt1	T	C	1: 185,086,191 (GRCm39)	V182A	possibly damaging	Het
Capn13	G	T	17: 73,638,053 (GRCm39)	T450N	probably benign	Het
Cdk10	T	C	8: 123,955,126 (GRCm39)	I159T	probably damaging	Het
Cela3b	T	C	4: 137,152,382 (GRCm39)	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,219,502 (GRCm39)		probably benign	Het
Cyp2b19	C	T	7: 26,462,886 (GRCm39)	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,497,713 (GRCm39)	H687R	probably benign	Het
Elovl1	T	C	4: 118,288,467 (GRCm39)	V108A	probably benign	Het
Emb	T	A	13: 117,408,614 (GRCm39)	N318K	probably damaging	Het
Ermp1	A	G	19: 29,617,339 (GRCm39)	L36P	probably damaging	Het
Esco2	T	G	14: 66,064,044 (GRCm39)	H380P	possibly damaging	Het
Gm9747	G	A	1: 82,211,809 (GRCm39)		probably benign	Het
Golga1	A	G	2: 38,910,138 (GRCm39)	M603T	probably benign	Het
Hsph1	A	G	5: 149,550,743 (GRCm39)	V411A	probably benign	Het
Igsf21	C	T	4: 139,834,675 (GRCm39)	G66S	possibly damaging	Het
Ints11	T	C	4: 155,969,655 (GRCm39)		probably null	Het
Jakmip1	G	T	5: 37,258,112 (GRCm39)	A253S	probably damaging	Het
Met	A	G	6: 17,540,576 (GRCm39)	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,024,984 (GRCm39)	T2A	probably benign	Het
Myh2	G	T	11: 67,088,170 (GRCm39)	V1929L	probably benign	Het
Myh8	T	C	11: 67,192,536 (GRCm39)	S1472P	probably benign	Het
Myo1e	T	C	9: 70,248,555 (GRCm39)		probably benign	Het
Ndufaf7	A	G	17: 79,244,931 (GRCm39)	I17V	probably benign	Het
Or4a47	T	C	2: 89,666,152 (GRCm39)	T46A	probably damaging	Het
Or5ak22	C	T	2: 85,230,515 (GRCm39)	D121N	probably damaging	Het
Or5h25	A	T	16: 58,930,284 (GRCm39)	S230T	probably damaging	Het
Or6c6c	A	G	10: 129,541,492 (GRCm39)	I248M	probably benign	Het
Or7g18	T	A	9: 18,786,617 (GRCm39)		probably benign	Het
Or8b50	A	G	9: 38,517,850 (GRCm39)	I30V	probably null	Het
Or8k1	T	G	2: 86,047,505 (GRCm39)	D183A	probably damaging	Het
Ppef2	T	C	5: 92,383,679 (GRCm39)	E477G	probably benign	Het
Scmh1	T	A	4: 120,387,097 (GRCm39)		probably benign	Het
Scn1a	C	A	2: 66,116,281 (GRCm39)	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 118,389,676 (GRCm39)	V322I	probably benign	Het
Slco1a7	G	T	6: 141,658,940 (GRCm39)	T552K	possibly damaging	Het
Spta1	G	A	1: 174,035,960 (GRCm39)	A1089T	probably damaging	Het
Sufu	T	C	19: 46,464,059 (GRCm39)	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183 (GRCm39)	F108L	possibly damaging	Het
Ttn	T	C	2: 76,805,308 (GRCm39)	N177S	probably benign	Het
Tyk2	T	C	9: 21,031,872 (GRCm39)	D401G	probably damaging	Het
Vav1	T	C	17: 57,614,067 (GRCm39)	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,119,718 (GRCm39)	H385R	probably damaging	Het
Xab2	T	C	8: 3,660,880 (GRCm39)	M745V	probably benign	Het

Other mutations in Cbr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02861:Cbr3	APN	16	93,482,007 (GRCm39)	missense	probably damaging	0.96
R1764:Cbr3	UTSW	16	93,487,370 (GRCm39)	missense	probably damaging	0.98
R5154:Cbr3	UTSW	16	93,482,027 (GRCm39)	missense	probably benign	0.37
R5553:Cbr3	UTSW	16	93,480,451 (GRCm39)	missense	possibly damaging	0.88
R5888:Cbr3	UTSW	16	93,487,614 (GRCm39)	missense	probably damaging	1.00
R6644:Cbr3	UTSW	16	93,487,399 (GRCm39)	missense	probably damaging	1.00
R6880:Cbr3	UTSW	16	93,487,426 (GRCm39)	missense	probably benign	0.21
R7050:Cbr3	UTSW	16	93,487,282 (GRCm39)	missense	possibly damaging	0.92
R7121:Cbr3	UTSW	16	93,487,438 (GRCm39)	missense	probably damaging	1.00
R8178:Cbr3	UTSW	16	93,480,393 (GRCm39)	missense	probably benign	0.05
R8440:Cbr3	UTSW	16	93,480,421 (GRCm39)	missense	probably damaging	1.00
R9520:Cbr3	UTSW	16	93,487,318 (GRCm39)	missense	probably benign	0.00
R9715:Cbr3	UTSW	16	93,481,941 (GRCm39)	missense	probably benign	0.16

Posted On

2013-12-09