Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Cbr2'

26249

Institutional Source

Beutler Lab

Gene Symbol

Cbr2

Ensembl Gene

ENSMUSG00000025150

Gene Name

carbonyl reductase 2

Synonyms

MLCR, lung carbonyl reductase

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0211 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

120620311-120622851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120621614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 88 (I88L)

Ref Sequence

ENSEMBL: ENSMUSP00000026148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026144] [ENSMUST00000026148] [ENSMUST00000106148]

AlphaFold

P08074

PDB Structure

CARBONYL REDUCTASE COMPLEXED WITH NADPH AND 2-PROPANOL [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000026144

SMART Domains

Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450

Domain	Start	End	E-Value	Type
Pfam:adh_short	8	195	8.9e-51	PFAM
Pfam:KR	9	175	7.1e-9	PFAM
Pfam:Epimerase	10	227	2.3e-7	PFAM
Pfam:adh_short_C2	14	242	6.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026148
AA Change: I88L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026148
Gene: ENSMUSG00000025150
AA Change: I88L

Domain	Start	End	E-Value	Type
Pfam:KR	9	178	8.5e-8	PFAM
Pfam:adh_short	9	195	4.6e-55	PFAM
Pfam:adh_short_C2	14	242	9.4e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106148

SMART Domains

Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450

Domain	Start	End	E-Value	Type
Pfam:adh_short	8	151	2.1e-22	PFAM
Pfam:KR	9	151	4.7e-7	PFAM
Pfam:NAD_binding_10	11	182	3.9e-9	PFAM
Pfam:adh_short_C2	14	150	2.2e-8	PFAM
Pfam:adh_short_C2	157	234	4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154479

Predicted Effect

probably benign
Transcript: ENSMUST00000154565

SMART Domains

Protein: ENSMUSP00000117739
Gene: ENSMUSG00000025150

Domain	Start	End	E-Value	Type
Pfam:adh_short	1	45	6.2e-10	PFAM
Pfam:adh_short_C2	33	154	9.7e-18	PFAM
Pfam:adh_short	41	123	2.2e-23	PFAM

Coding Region Coverage

1x: 96.9%
3x: 92.1%
10x: 58.4%
20x: 15.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Ddost	G	A	4: 138,036,913 (GRCm39)	V159M	probably damaging	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Lpin3	A	T	2: 160,740,601 (GRCm39)	D382V	probably damaging	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Pcdhb10	A	T	18: 37,547,059 (GRCm39)	M712L	probably benign	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp287	T	C	11: 62,605,743 (GRCm39)	H388R	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	probably damaging	Het

Other mutations in Cbr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0211:Cbr2	UTSW	11	120,621,614 (GRCm39)	missense	probably benign
R0971:Cbr2	UTSW	11	120,621,259 (GRCm39)	missense	probably benign	0.16
R1573:Cbr2	UTSW	11	120,622,791 (GRCm39)	missense	possibly damaging	0.70
R2093:Cbr2	UTSW	11	120,621,255 (GRCm39)	missense	probably benign	0.00
R3828:Cbr2	UTSW	11	120,621,278 (GRCm39)	missense	probably benign
R3829:Cbr2	UTSW	11	120,621,278 (GRCm39)	missense	probably benign
R4403:Cbr2	UTSW	11	120,621,628 (GRCm39)	missense	probably damaging	1.00
R5011:Cbr2	UTSW	11	120,621,697 (GRCm39)	missense	possibly damaging	0.92
R7199:Cbr2	UTSW	11	120,621,087 (GRCm39)	missense	probably benign	0.00
R7535:Cbr2	UTSW	11	120,620,628 (GRCm39)	missense	probably damaging	1.00
R7714:Cbr2	UTSW	11	120,620,628 (GRCm39)	missense	probably benign	0.02
R7962:Cbr2	UTSW	11	120,620,609 (GRCm39)	missense	probably benign	0.03
R8158:Cbr2	UTSW	11	120,621,123 (GRCm39)	missense	probably damaging	0.98
Z1177:Cbr2	UTSW	11	120,621,105 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

Posted On

2013-04-16