Mutagenetix > Incidental Mutation

Incidental Mutation 'R0020:Dbh'

201364

Institutional Source

Beutler Lab

Gene Symbol

Dbh

Ensembl Gene

ENSMUSG00000000889

Gene Name

dopamine beta hydroxylase

Synonyms

MMRRC Submission

038315-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0020 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

27055519-27073216 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 27060584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000910]

AlphaFold

Q64237

Predicted Effect

probably benign
Transcript: ENSMUST00000000910

SMART Domains

Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889

Domain	Start	End	E-Value	Type
low complexity region	29	41	N/A	INTRINSIC
DoH	88	177	6.62e-8	SMART
Pfam:Cu2_monooxygen	217	345	4.9e-47	PFAM
Pfam:Cu2_monoox_C	364	520	3.6e-67	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.4%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are embryonic lethal probably due to cardiovascular failure, but survive if treated to replace their dopamine deficit. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	T	C	10: 67,383,927 (GRCm39)	D226G	probably benign	Het
Agfg2	C	T	5: 137,652,064 (GRCm39)	V432M	probably benign	Het
Atf2	T	C	2: 73,676,628 (GRCm39)	D122G	possibly damaging	Het
Brd10	A	T	19: 29,693,597 (GRCm39)	D2032E	probably damaging	Het
Cd2bp2	G	A	7: 126,792,996 (GRCm39)	T342M	probably damaging	Het
Cip2a	A	T	16: 48,821,975 (GRCm39)	H201L	probably damaging	Het
Col6a3	T	A	1: 90,739,272 (GRCm39)	I319F	probably damaging	Het
Cst11	T	A	2: 148,613,253 (GRCm39)	Y24F	probably damaging	Het
Cstb	T	A	10: 78,263,170 (GRCm39)	V65E	probably benign	Het
Cyp2j11	G	A	4: 96,195,641 (GRCm39)	H352Y	probably benign	Het
D130043K22Rik	T	A	13: 25,038,475 (GRCm39)		probably benign	Het
Dhdh	T	C	7: 45,137,528 (GRCm39)	K53R	probably benign	Het
Drc3	A	G	11: 60,261,371 (GRCm39)	Y174C	probably damaging	Het
Ezr	G	T	17: 7,010,126 (GRCm39)	Q308K	probably damaging	Het
F3	A	T	3: 121,525,265 (GRCm39)	N169Y	probably damaging	Het
Fbn2	G	T	18: 58,238,236 (GRCm39)	T587K	probably damaging	Het
Fhl5	A	T	4: 25,200,054 (GRCm39)	V260E	probably benign	Het
Glyr1	A	G	16: 4,854,913 (GRCm39)	I55T	probably damaging	Het
Gm12695	G	C	4: 96,657,972 (GRCm39)	P66A	probably damaging	Het
Gon4l	G	T	3: 88,766,244 (GRCm39)	V428L	probably damaging	Het
Ighv6-5	T	C	12: 114,380,241 (GRCm39)	D92G	probably null	Het
Inhba	A	C	13: 16,200,949 (GRCm39)	K170N	possibly damaging	Het
Kng2	A	G	16: 22,816,046 (GRCm39)	V317A	probably benign	Het
Larp1	T	A	11: 57,940,849 (GRCm39)	D658E	probably damaging	Het
Map3k14	T	C	11: 103,118,500 (GRCm39)	E562G	probably damaging	Het
Megf10	G	T	18: 57,420,965 (GRCm39)	V868F	possibly damaging	Het
Nap1l1	A	C	10: 111,326,884 (GRCm39)	E148D	probably benign	Het
Nlrp4a	A	T	7: 26,149,797 (GRCm39)	H468L	probably damaging	Het
Nphs1	G	T	7: 30,162,633 (GRCm39)	V357L	probably benign	Het
Or10aa3	T	A	1: 173,878,413 (GRCm39)	V158E	probably damaging	Het
Pclo	A	G	5: 14,719,687 (GRCm39)	T1275A	unknown	Het
Pde4d	T	A	13: 110,091,104 (GRCm39)	C35S	possibly damaging	Het
Pkd1l1	A	G	11: 8,825,765 (GRCm39)		probably benign	Het
Pkd2	A	G	5: 104,651,382 (GRCm39)	E910G	probably damaging	Het
Pot1b	T	A	17: 55,960,429 (GRCm39)	M634L	probably benign	Het
Ppp2r5c	C	T	12: 110,541,257 (GRCm39)	Q469*	probably null	Het
Ppp6r2	T	A	15: 89,143,342 (GRCm39)	M163K	probably damaging	Het
Prss43	C	A	9: 110,657,580 (GRCm39)		probably benign	Het
Rb1cc1	C	A	1: 6,334,772 (GRCm39)	N1444K	possibly damaging	Het
Rimoc1	T	C	15: 4,021,350 (GRCm39)		probably benign	Het
Scube2	A	G	7: 109,430,095 (GRCm39)		probably benign	Het
Slamf9	T	C	1: 172,303,082 (GRCm39)	S7P	possibly damaging	Het
Slc35b2	T	A	17: 45,877,782 (GRCm39)	M303K	probably damaging	Het
Slc4a7	T	A	14: 14,796,108 (GRCm38)	F1116I	probably benign	Het
Slco1a8	A	T	6: 141,918,076 (GRCm39)	V600E	possibly damaging	Het
Smarcad1	T	A	6: 65,060,991 (GRCm39)		probably benign	Het
Tamalin	T	C	15: 101,128,433 (GRCm39)	V157A	probably damaging	Het
Tns3	A	C	11: 8,495,227 (GRCm39)		probably null	Het
Zfp282	T	G	6: 47,856,943 (GRCm39)	W59G	probably damaging	Het
Zfp746	C	A	6: 48,041,641 (GRCm39)	A362S	probably benign	Het

Other mutations in Dbh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01707:Dbh	APN	2	27,055,556 (GRCm39)	missense	probably benign	0.00
IGL02169:Dbh	APN	2	27,064,910 (GRCm39)	missense	probably damaging	1.00
IGL02297:Dbh	APN	2	27,067,748 (GRCm39)	missense	probably benign
IGL02940:Dbh	APN	2	27,058,321 (GRCm39)	missense	probably damaging	1.00
IGL03100:Dbh	APN	2	27,055,534 (GRCm39)	missense	probably benign	0.08
IGL03290:Dbh	APN	2	27,064,944 (GRCm39)	missense	probably damaging	1.00
R1908:Dbh	UTSW	2	27,071,506 (GRCm39)	missense	possibly damaging	0.66
R1914:Dbh	UTSW	2	27,058,234 (GRCm39)	missense	probably damaging	1.00
R1915:Dbh	UTSW	2	27,058,234 (GRCm39)	missense	probably damaging	1.00
R2328:Dbh	UTSW	2	27,055,742 (GRCm39)	missense	probably benign
R3406:Dbh	UTSW	2	27,064,977 (GRCm39)	missense	possibly damaging	0.70
R4475:Dbh	UTSW	2	27,070,984 (GRCm39)	splice site	probably null
R4532:Dbh	UTSW	2	27,067,343 (GRCm39)	missense	possibly damaging	0.65
R4533:Dbh	UTSW	2	27,067,343 (GRCm39)	missense	possibly damaging	0.65
R4619:Dbh	UTSW	2	27,064,836 (GRCm39)	missense	probably damaging	1.00
R5920:Dbh	UTSW	2	27,067,243 (GRCm39)	intron	probably benign
R6936:Dbh	UTSW	2	27,062,809 (GRCm39)	missense	probably benign
R7047:Dbh	UTSW	2	27,055,622 (GRCm39)	missense	possibly damaging	0.87
R7121:Dbh	UTSW	2	27,058,318 (GRCm39)	missense	probably damaging	1.00
R7591:Dbh	UTSW	2	27,060,522 (GRCm39)	missense	probably damaging	1.00
R7753:Dbh	UTSW	2	27,061,448 (GRCm39)	missense	probably benign	0.00
R7814:Dbh	UTSW	2	27,064,860 (GRCm39)	missense	probably damaging	1.00
R8037:Dbh	UTSW	2	27,055,700 (GRCm39)	missense	probably damaging	1.00
R8231:Dbh	UTSW	2	27,060,555 (GRCm39)	missense	probably benign	0.14
R8398:Dbh	UTSW	2	27,064,910 (GRCm39)	missense	probably damaging	1.00
R8525:Dbh	UTSW	2	27,055,798 (GRCm39)	missense	probably benign	0.22
R8530:Dbh	UTSW	2	27,058,318 (GRCm39)	missense	probably damaging	1.00
R8768:Dbh	UTSW	2	27,060,328 (GRCm39)	missense	probably benign
Z1176:Dbh	UTSW	2	27,067,739 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTGGAAGAGCCATTTCAGTCGC -3'
(R):5'- GCTTTGCTCCAGGCAGGTAAGATAG -3'

Sequencing Primer
(F):5'- CCATTTCAGTCGCTGGAGG -3'
(R):5'- TAGGAAATATTCATCTCAGGGGC -3'

Posted On

2014-06-02