Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02108:Cbr1'

280042

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cbr1

Ensembl Gene

ENSMUSG00000051483

Gene Name

carbonyl reductase 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL02108

Quality Score

Status

Chromosome

Chromosomal Location

93404752-93407226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93407087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 268 (F268L)

Ref Sequence

ENSEMBL: ENSMUSP00000049394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039659] [ENSMUST00000231762]

AlphaFold

P48758

Predicted Effect

probably benign
Transcript: ENSMUST00000039659
AA Change: F268L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000049394
Gene: ENSMUSG00000051483
AA Change: F268L

Domain	Start	End	E-Value	Type
Pfam:adh_short	6	151	3.3e-29	PFAM
Pfam:KR	7	119	9.4e-9	PFAM
Pfam:adh_short_C2	12	164	2.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231450

Predicted Effect

probably benign
Transcript: ENSMUST00000231762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232551

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 56,325,346 (GRCm39)	I369M	probably damaging	Het
Aff1	T	G	5: 103,958,975 (GRCm39)		probably null	Het
Arid1a	G	T	4: 133,407,827 (GRCm39)	P2227T	unknown	Het
Atp12a	A	T	14: 56,621,525 (GRCm39)	D720V	possibly damaging	Het
Auh	T	C	13: 53,043,133 (GRCm39)		probably benign	Het
Bptf	C	A	11: 106,965,814 (GRCm39)	V1012L	probably benign	Het
Ccdc190	A	G	1: 169,761,555 (GRCm39)	D219G	probably damaging	Het
Ccnb1	C	T	13: 100,917,665 (GRCm39)		probably null	Het
Cdh19	G	T	1: 110,817,461 (GRCm39)	S760R	probably benign	Het
Cecr2	G	A	6: 120,739,519 (GRCm39)		probably null	Het
Chid1	A	T	7: 141,112,841 (GRCm39)	M1K	probably null	Het
Dzank1	T	C	2: 144,348,143 (GRCm39)	T208A	probably benign	Het
Ecm2	T	A	13: 49,671,920 (GRCm39)	Y140*	probably null	Het
Enox2	A	G	X: 48,102,393 (GRCm39)	L533S	possibly damaging	Het
Fntb	A	G	12: 76,934,631 (GRCm39)	E167G	possibly damaging	Het
Gpihbp1	T	C	15: 75,469,461 (GRCm39)	V92A	probably benign	Het
Grsf1	C	T	5: 88,813,762 (GRCm39)	R329Q	probably benign	Het
Gtpbp4	T	A	13: 9,035,249 (GRCm39)	D370V	probably benign	Het
H2ac4	T	C	13: 23,935,207 (GRCm39)	V31A	probably benign	Het
Klhl14	T	A	18: 21,690,977 (GRCm39)	Y491F	probably damaging	Het
Lamb3	A	T	1: 193,014,530 (GRCm39)	Q563L	probably damaging	Het
Lcn2	A	T	2: 32,277,617 (GRCm39)	L124Q	probably damaging	Het
Mbl1	T	C	14: 40,875,608 (GRCm39)	S21P	possibly damaging	Het
Myrip	G	A	9: 120,296,631 (GRCm39)		probably null	Het
Nmur2	T	C	11: 55,931,190 (GRCm39)	T174A	probably benign	Het
Odf1	C	A	15: 38,226,623 (GRCm39)	Y174*	probably null	Het
Optn	A	G	2: 5,036,084 (GRCm39)	V466A	possibly damaging	Het
Or5m12	A	T	2: 85,734,494 (GRCm39)	D301E	possibly damaging	Het
Or8b9	T	A	9: 37,766,234 (GRCm39)	V40E	possibly damaging	Het
Or8g54	A	T	9: 39,706,808 (GRCm39)	I46F	probably damaging	Het
Pde9a	G	A	17: 31,680,667 (GRCm39)	S316N	probably benign	Het
Phf3	A	T	1: 30,869,032 (GRCm39)	I672K	probably damaging	Het
Pklr	A	T	3: 89,044,710 (GRCm39)	I63F	probably damaging	Het
Plet1	T	C	9: 50,410,387 (GRCm39)		probably benign	Het
Pp2d1	T	A	17: 53,822,433 (GRCm39)	D211V	probably damaging	Het
Ppp6r3	A	T	19: 3,542,494 (GRCm39)	W384R	probably damaging	Het
Prdm11	T	C	2: 92,806,048 (GRCm39)	I301V	probably damaging	Het
Prkar1a	C	T	11: 109,558,351 (GRCm39)	R357C	probably damaging	Het
Ptchd1	T	C	X: 154,356,548 (GRCm39)	T886A	probably damaging	Het
Ptpre	A	T	7: 135,260,831 (GRCm39)	E156V	possibly damaging	Het
Ptprq	T	C	10: 107,482,478 (GRCm39)	T1032A	probably damaging	Het
Rras2	A	G	7: 113,659,623 (GRCm39)	I47T	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Sh3rf3	T	A	10: 58,971,650 (GRCm39)	V826E	probably damaging	Het
Tmem127	T	A	2: 127,099,026 (GRCm39)	S132T	probably damaging	Het
Tnrc6c	C	A	11: 117,612,025 (GRCm39)	P221Q	probably benign	Het
Tstd3	A	T	4: 21,759,366 (GRCm39)		probably benign	Het
Usp46	T	G	5: 74,189,867 (GRCm39)	T55P	probably damaging	Het

Other mutations in Cbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Cbr1	APN	16	93,405,119 (GRCm39)	missense	probably damaging	1.00
IGL02660:Cbr1	APN	16	93,406,712 (GRCm39)	missense	probably benign	0.06
PIT4466001:Cbr1	UTSW	16	93,406,692 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Cbr1	UTSW	16	93,406,692 (GRCm39)	missense	probably damaging	1.00
R0127:Cbr1	UTSW	16	93,406,875 (GRCm39)	missense	probably damaging	1.00
R0282:Cbr1	UTSW	16	93,407,022 (GRCm39)	missense	possibly damaging	0.94
R1557:Cbr1	UTSW	16	93,405,677 (GRCm39)	missense	probably benign
R4777:Cbr1	UTSW	16	93,406,942 (GRCm39)	missense	probably benign	0.05
R5547:Cbr1	UTSW	16	93,406,698 (GRCm39)	missense	probably damaging	1.00
R8303:Cbr1	UTSW	16	93,406,905 (GRCm39)	missense	probably damaging	1.00
R8371:Cbr1	UTSW	16	93,406,779 (GRCm39)	missense	probably damaging	1.00
R9081:Cbr1	UTSW	16	93,406,994 (GRCm39)	nonsense	probably null
R9132:Cbr1	UTSW	16	93,406,794 (GRCm39)	missense	probably benign	0.00
R9801:Cbr1	UTSW	16	93,406,687 (GRCm39)	missense	probably damaging	1.00
RF020:Cbr1	UTSW	16	93,407,067 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16