Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4472001:Cbr1'

555888

Institutional Source

Beutler Lab

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 #

PIT4472001 (G1)

Quality Score

167.009

Status

Not validated

Chromosome

Chromosomal Location

93404752-93407226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93406692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 136 (V136E)

Ref Sequence

ENSEMBL: ENSMUSP00000049394 (fasta)

Gene Model

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

AlphaFold

P48758

Predicted Effect

probably damaging
Transcript: ENSMUST00000039659
AA Change: V136E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049394
Gene: ENSMUSG00000051483
AA Change: V136E

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

probably null
Transcript: ENSMUST00000231762
AA Change: *135R

Coding Region Coverage

1x: 93.7%
3x: 90.8%
10x: 84.2%
20x: 70.1%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,502,613 (GRCm39)	P258T	probably damaging	Het
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
Bcas3	A	G	11: 85,422,726 (GRCm39)	I532V	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Cd300e	T	A	11: 114,945,336 (GRCm39)	I153F	possibly damaging	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cpvl	A	T	6: 53,873,464 (GRCm39)	F424Y	possibly damaging	Het
Cxcl16	C	T	11: 70,349,625 (GRCm39)	G80R	probably damaging	Het
Cyp2g1	T	C	7: 26,513,619 (GRCm39)	V186A	probably benign	Het
Cyp4f15	T	A	17: 32,921,798 (GRCm39)	M490K	probably damaging	Het
D630045J12Rik	A	T	6: 38,155,774 (GRCm39)	V1160D	probably damaging	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fgf5	T	A	5: 98,409,838 (GRCm39)	V129E	probably damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gcnt2	G	A	13: 41,071,413 (GRCm39)	V19M	probably benign	Het
Gga1	C	A	15: 78,777,836 (GRCm39)	A595D	probably damaging	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Gskip	C	T	12: 105,651,121 (GRCm39)		probably benign	Het
Ighv1-72	A	G	12: 115,721,620 (GRCm39)	V112A	probably damaging	Het
Krt16	T	A	11: 100,138,732 (GRCm39)	T185S	probably benign	Het
Lama1	T	C	17: 68,071,699 (GRCm39)	V862A		Het
Lats2	A	C	14: 57,936,814 (GRCm39)	Y558*	probably null	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mnx1	T	C	5: 29,679,105 (GRCm39)	E326G	unknown	Het
Mtmr10	A	G	7: 63,983,106 (GRCm39)	E471G	probably benign	Het
Or5p64	C	T	7: 107,855,310 (GRCm39)	V12M	possibly damaging	Het
Otog	G	A	7: 45,945,273 (GRCm39)	V2177M	probably damaging	Het
Ovgp1	A	G	3: 105,894,306 (GRCm39)	E693G	unknown	Het
Pclo	T	C	5: 14,763,182 (GRCm39)	M600T	possibly damaging	Het
Pdgfra	T	A	5: 75,340,907 (GRCm39)	M622K	probably damaging	Het
Pdxdc1	A	G	16: 13,663,209 (GRCm39)	L428P	probably damaging	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Podnl1	G	A	8: 84,854,477 (GRCm39)	V150M		Het
Pou4f3	A	G	18: 42,527,717 (GRCm39)	M4V	probably benign	Het
Ppp1r13b	G	A	12: 111,799,074 (GRCm39)	R864C	probably damaging	Het
R3hdm4	A	G	10: 79,749,389 (GRCm39)		probably null	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Sptb	G	A	12: 76,667,460 (GRCm39)	T879M	probably damaging	Het
Strip1	G	A	3: 107,535,486 (GRCm39)	A79V	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trim34a	T	A	7: 103,897,155 (GRCm39)	L73Q	probably damaging	Het
Trpv4	T	A	5: 114,764,984 (GRCm39)	T677S	probably damaging	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly 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
IGL02108:Cbr1	APN	16	93,407,087 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGATCTCACGGTCATCTG -3'
(R):5'- GCAAGGATTCTGGACAGGACTG -3'

Sequencing Primer
(F):5'- AGATCTCACGGTCATCTGGCTTC -3'
(R):5'- GGTGACCCCATATGCACTATTAGG -3'

Posted On

2019-06-07