Mutagenetix > Incidental Mutations

Incidental Mutation 'R3828:Cbr2'

273860

Institutional Source

Beutler Lab

Gene Symbol

Cbr2

Ensembl Gene

ENSMUSG00000025150

Gene Name

carbonyl reductase 2

Synonyms

MLCR, lung carbonyl reductase

MMRRC Submission

040886-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120729489-120732114 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120730452 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 140 (H140Q)

Ref Sequence

ENSEMBL: ENSMUSP00000026148 (fasta)

Gene Model

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

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: H140Q

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

SMART Domains

Protein: ENSMUSP00000026148
Gene: ENSMUSG00000025150
AA Change: H140Q

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

unknown
Transcript: ENSMUST00000154565
AA Change: H67Q

SMART Domains

Protein: ENSMUSP00000117739
Gene: ENSMUSG00000025150
AA Change: H67Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camk2b	A	G	11: 6,028,932	V32A	probably damaging	Het
Cdk19	T	C	10: 40,475,613	V258A	probably damaging	Het
Cep104	T	G	4: 153,984,943	M207R	probably damaging	Het
Chd2	A	G	7: 73,491,415	Y577H	possibly damaging	Het
Col4a1	C	A	8: 11,209,650	G1341V	probably damaging	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Cx3cl1	A	T	8: 94,777,306		probably benign	Het
Cxcr6	A	T	9: 123,810,869	M319L	probably benign	Het
Dlg5	T	A	14: 24,146,158	K1308I	probably damaging	Het
Dnah17	G	A	11: 118,041,158		probably benign	Het
Ffar2	A	T	7: 30,820,085	I10N	possibly damaging	Het
Gm17521	C	A	X: 123,029,225	G149C	unknown	Het
Gm5862	T	G	5: 26,019,347	H208P	probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Ino80d	A	T	1: 63,062,078	M463K	possibly damaging	Het
Lrp2	G	A	2: 69,426,012	P4595S	probably benign	Het
Mark4	A	G	7: 19,443,187	I239T	possibly damaging	Het
Mcoln1	C	T	8: 3,500,601	A2V	possibly damaging	Het
Mcts1	T	C	X: 38,602,568		probably benign	Het
Mrgprb5	T	A	7: 48,168,091	M299L	probably benign	Het
Ncapg2	A	T	12: 116,407,318		probably benign	Het
Olfr679	A	G	7: 105,086,297	N194D	probably benign	Het
Pcdhga4	G	T	18: 37,687,601	L734F	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Rsg1	C	T	4: 141,218,589	R148C	probably damaging	Het
Rsph6a	T	C	7: 19,057,614	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,997,626		probably null	Het
Stk11	T	C	10: 80,127,948		probably null	Het
Syt14	T	C	1: 192,901,775	N444S	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tnks	A	G	8: 34,873,178	F429L	probably damaging	Het
Usp15	T	A	10: 123,196,870	I16F	possibly damaging	Het
Vps50	T	C	6: 3,533,500	I244T	probably benign	Het

Other mutations in Cbr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0211:Cbr2	UTSW	11	120730788	missense	probably benign
R0211:Cbr2	UTSW	11	120730788	missense	probably benign
R0971:Cbr2	UTSW	11	120730433	missense	probably benign	0.16
R1573:Cbr2	UTSW	11	120731965	missense	possibly damaging	0.70
R2093:Cbr2	UTSW	11	120730429	missense	probably benign	0.00
R3829:Cbr2	UTSW	11	120730452	missense	probably benign
R4403:Cbr2	UTSW	11	120730802	missense	probably damaging	1.00
R5011:Cbr2	UTSW	11	120730871	missense	possibly damaging	0.92
R7199:Cbr2	UTSW	11	120730261	missense	probably benign	0.00
R7535:Cbr2	UTSW	11	120729802	missense	probably damaging	1.00
R7714:Cbr2	UTSW	11	120729802	missense	probably benign	0.02
R7962:Cbr2	UTSW	11	120729783	missense	probably benign	0.03
R8158:Cbr2	UTSW	11	120730297	missense	probably damaging	0.98
Z1177:Cbr2	UTSW	11	120730279	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TGTGTGGCCCTAGTTCCATG -3'
(R):5'- AGGTCCTTCAGTGTAAATCTTCGC -3'

Sequencing Primer
(F):5'- GCCCTAGTTCCATGGCCATG -3'
(R):5'- CAGTGTAAATCTTCGCTCTGTG -3'

Posted On

2015-04-02