Mutagenetix > Incidental Mutation

Incidental Mutation 'R3406:Dbh'

259369

Institutional Source

Beutler Lab

Gene Symbol

Dbh

Ensembl Gene

ENSMUSG00000000889

Gene Name

dopamine beta hydroxylase

Synonyms

MMRRC Submission

040624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3406 (G1)

Quality Score

213

Status

Not validated

Chromosome

Chromosomal Location

27055519-27073216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27064977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 396 (D396G)

Ref Sequence

ENSEMBL: ENSMUSP00000000910 (fasta)

Gene Model

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

AlphaFold

Q64237

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000910
AA Change: D396G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: D396G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155290

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,859,338 (GRCm39)	M1K	probably null	Het
Adam34l	A	T	8: 44,079,089 (GRCm39)	C378*	probably null	Het
Bdkrb2	T	C	12: 105,558,755 (GRCm39)	V332A	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Chd4	C	A	6: 125,098,970 (GRCm39)	T1586K	probably benign	Het
Cnga3	A	G	1: 37,301,146 (GRCm39)	E622G	probably benign	Het
Dhodh	G	A	8: 110,330,107 (GRCm39)	R86*	probably null	Het
Dpt	A	C	1: 164,624,500 (GRCm39)	E67A	probably damaging	Het
Eif2ak2	A	G	17: 79,166,068 (GRCm39)		probably benign	Het
Esp4	T	A	17: 40,913,336 (GRCm39)	L68M	possibly damaging	Het
Exo1	A	G	1: 175,733,536 (GRCm39)	K787E	possibly damaging	Het
Fbxo38	T	C	18: 62,647,914 (GRCm39)	T875A	probably damaging	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Hemk1	G	A	9: 107,214,415 (GRCm39)	Q6*	probably null	Het
Hmcn2	C	T	2: 31,323,284 (GRCm39)		probably benign	Het
Hook2	A	G	8: 85,720,613 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,525,555 (GRCm39)	S507P	unknown	Het
Kazn	C	A	4: 141,966,506 (GRCm39)		probably benign	Het
Kcne4	C	T	1: 78,795,688 (GRCm39)	A112V	possibly damaging	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Lrrc30	A	G	17: 67,939,175 (GRCm39)	L135P	probably damaging	Het
Lyst	T	A	13: 13,809,815 (GRCm39)	M495K	possibly damaging	Het
Mab21l3	C	A	3: 101,730,847 (GRCm39)	V131F	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mlst8	A	T	17: 24,697,099 (GRCm39)	M56K	probably benign	Het
Mmp9	A	G	2: 164,791,310 (GRCm39)	Y160C	probably damaging	Het
Mslnl	A	G	17: 25,965,155 (GRCm39)	Y507C	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myl12a	A	T	17: 71,301,737 (GRCm39)	M130K	probably benign	Het
Nalf2	A	G	X: 98,889,109 (GRCm39)	I325V	probably benign	Het
Ncdn	C	T	4: 126,642,388 (GRCm39)	R423Q	probably benign	Het
Ncf2	A	G	1: 152,701,698 (GRCm39)		probably benign	Het
Nek8	G	T	11: 78,061,572 (GRCm39)	S319*	probably null	Het
Or11g7	G	A	14: 50,690,653 (GRCm39)	C48Y	probably benign	Het
Or52m2	T	C	7: 102,263,993 (GRCm39)	M68V	possibly damaging	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Pcdhb15	C	A	18: 37,608,442 (GRCm39)	A558E	probably benign	Het
Plrg1	T	A	3: 82,978,526 (GRCm39)	W431R	probably damaging	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Rpgrip1	G	A	14: 52,382,666 (GRCm39)	D600N	possibly damaging	Het
Siah3	A	G	14: 75,763,421 (GRCm39)	D224G	probably damaging	Het
Slc22a6	T	C	19: 8,598,675 (GRCm39)	L244P	probably damaging	Het
Stap2	A	T	17: 56,304,511 (GRCm39)	W374R	probably benign	Het
Tbck	T	A	3: 132,432,845 (GRCm39)	N418K	probably benign	Het
Tcp11x2	T	C	X: 134,555,733 (GRCm39)	N474S	probably damaging	Het
Tenm3	A	C	8: 48,681,590 (GRCm39)	V2680G	probably damaging	Het
Thada	A	T	17: 84,538,213 (GRCm39)		probably benign	Het
Tlr6	C	T	5: 65,110,772 (GRCm39)	V712M	probably damaging	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vwa8	T	A	14: 79,401,660 (GRCm39)		probably benign	Het
Znrf2	A	T	6: 54,861,776 (GRCm39)	N229I	probably damaging	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
R0020:Dbh	UTSW	2	27,060,584 (GRCm39)	splice site	probably benign
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
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'- CCACATGCCTCTCCCTTAGG -3'
(R):5'- AGCAGTTAAAATGTACTGTGTGG -3'

Sequencing Primer
(F):5'- TCTCCCTTAGGCCGGCAG -3'
(R):5'- TTACACAGAGATGGCTCAGCTGC -3'

Posted On

2015-01-23