Mutagenetix > Incidental Mutations

Incidental Mutation 'R7121:Dbh'

551980

Institutional Source

Beutler Lab

Gene Symbol

Dbh

Ensembl Gene

ENSMUSG00000000889

Gene Name

dopamine beta hydroxylase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27165233-27183200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27168306 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 162 (D162V)

Ref Sequence

ENSEMBL: ENSMUSP00000000910 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000000910
AA Change: D162V

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

SMART Domains

Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: D162V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	C	T	19: 42,052,673	A81V	probably benign	Het
Abcc9	A	T	6: 142,689,127	L137*	probably null	Het
Akap10	A	G	11: 61,886,698		probably null	Het
Alms1	T	A	6: 85,624,622	Y1683N	probably damaging	Het
Atl1	A	G	12: 69,931,634	S127G	probably damaging	Het
Cadm1	G	A	9: 47,799,410	V204M	probably damaging	Het
Cbr3	T	A	16: 93,690,550	I207N	probably damaging	Het
Ccdc148	A	T	2: 58,827,567	Y475N	probably damaging	Het
Ccdc33	A	T	9: 58,080,884	S144T	probably benign	Het
Ceacam5	C	A	7: 17,745,537	A193E	probably benign	Het
Chd2	T	C	7: 73,469,670	D1042G	probably benign	Het
Chmp5	A	T	4: 40,952,217		probably null	Het
Clca1	T	A	3: 145,011,806	N467I	probably damaging	Het
D130040H23Rik	T	C	8: 69,302,279	V112A	probably damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dnm2	C	T	9: 21,474,566	T295I	probably benign	Het
Faiml	A	C	9: 99,234,393	D81E	probably benign	Het
Fer1l4	T	A	2: 156,044,557	Y720F	probably benign	Het
Fn1	A	C	1: 71,600,538		probably benign	Het
Ftsj3	T	C	11: 106,252,297	E397G	probably damaging	Het
Gm16506	T	C	14: 43,727,360	K42E		Het
Gpr179	A	G	11: 97,334,730	S2200P	probably benign	Het
Gusb	T	C	5: 130,000,043	D202G	probably benign	Het
Hspe1	A	G	1: 55,089,151	E35G	probably damaging	Het
Kptn	T	A	7: 16,123,098	H170Q	probably damaging	Het
Lama3	G	A	18: 12,462,782	A923T	probably benign	Het
Lmo7	T	A	14: 101,887,035	I432K	probably damaging	Het
Maneal	G	A	4: 124,857,112	P284S	probably benign	Het
Mrgbp	A	G	2: 180,582,889	T28A	probably benign	Het
Myo1h	T	C	5: 114,338,229	V493A		Het
Naxd	T	C	8: 11,506,745	L122P	probably damaging	Het
Neto2	T	C	8: 85,670,391		probably null	Het
Obscn	T	A	11: 59,013,252	R7299*	probably null	Het
Odf2l	G	A	3: 145,139,820	V363I	possibly damaging	Het
Olfr117	T	C	17: 37,659,808	H175R	probably damaging	Het
Olfr1186	A	T	2: 88,525,826	D81V	probably damaging	Het
Olfr1458	T	A	19: 13,103,173	I44F	probably benign	Het
Olfr69	A	T	7: 103,767,733	Y221*	probably null	Het
Olfr721-ps1	A	G	14: 14,407,998	T257A	possibly damaging	Het
Otud3	G	A	4: 138,896,756	P325L	probably benign	Het
Palb2	T	C	7: 122,124,834	N564S	probably benign	Het
Pcnt	A	G	10: 76,427,927	V401A	possibly damaging	Het
Plcd4	G	A	1: 74,565,365	E767K	probably benign	Het
Ppp3ca	T	C	3: 136,868,626	F95S	probably damaging	Het
Prkar2a	A	G	9: 108,692,622	T56A	probably benign	Het
Psma2	T	A	13: 14,625,230	D186E	probably benign	Het
Psmd11	T	A	11: 80,438,273	Y72*	probably null	Het
Ror1	G	A	4: 100,302,945	D53N	probably benign	Het
Rubcn	C	T	16: 32,836,469	R527Q	probably damaging	Het
Sgca	G	A	11: 94,969,547	P255S	possibly damaging	Het
Skint11	A	T	4: 114,227,796	R167S	probably benign	Het
Slco5a1	A	G	1: 12,990,437	V20A	probably benign	Het
Snai2	T	C	16: 14,707,106	S159P	probably benign	Het
Taar2	T	G	10: 23,940,827	S88R	probably damaging	Het
Tacc3	T	A	5: 33,667,165	N378K	possibly damaging	Het
Tek	A	G	4: 94,811,410	K342E	probably benign	Het
Tm9sf3	G	T	19: 41,245,505	S198*	probably null	Het
Tmbim4	T	A	10: 120,215,609	F56I	possibly damaging	Het
Tsen34	T	A	7: 3,694,987	S85T	probably benign	Het
Ttc27	C	A	17: 74,747,715	Q339K	probably benign	Het
Ubap2	G	T	4: 41,205,550	P636T	probably benign	Het
Ubr1	G	A	2: 120,875,498	L1495F	probably benign	Het
Vsig10	T	C	5: 117,343,902	S386P	probably damaging	Het
Wnk2	C	A	13: 49,147,177	R19L	probably benign	Het
Wsb2	T	C	5: 117,370,879	L126P	probably damaging	Het
Xylb	A	G	9: 119,382,292	I402V	probably benign	Het
Yrdc	A	G	4: 124,850,955	S61G	probably benign	Het
Zbtb3	A	G	19: 8,803,407	D128G	probably damaging	Het
Zfp423	C	T	8: 87,780,861	G952R	probably damaging	Het
Zfp646	A	G	7: 127,879,772	T374A	possibly damaging	Het

Other mutations in Dbh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01707:Dbh	APN	2	27165544	missense	probably benign	0.00
IGL02169:Dbh	APN	2	27174898	missense	probably damaging	1.00
IGL02297:Dbh	APN	2	27177736	missense	probably benign
IGL02940:Dbh	APN	2	27168309	missense	probably damaging	1.00
IGL03100:Dbh	APN	2	27165522	missense	probably benign	0.08
IGL03290:Dbh	APN	2	27174932	missense	probably damaging	1.00
R0020:Dbh	UTSW	2	27170572	splice site	probably benign
R1908:Dbh	UTSW	2	27181494	missense	possibly damaging	0.66
R1914:Dbh	UTSW	2	27168222	missense	probably damaging	1.00
R1915:Dbh	UTSW	2	27168222	missense	probably damaging	1.00
R2328:Dbh	UTSW	2	27165730	missense	probably benign
R3406:Dbh	UTSW	2	27174965	missense	possibly damaging	0.70
R4475:Dbh	UTSW	2	27180972	splice site	probably null
R4532:Dbh	UTSW	2	27177331	missense	possibly damaging	0.65
R4533:Dbh	UTSW	2	27177331	missense	possibly damaging	0.65
R4619:Dbh	UTSW	2	27174824	missense	probably damaging	1.00
R5920:Dbh	UTSW	2	27177231	intron	probably benign
R6936:Dbh	UTSW	2	27172797	missense	probably benign
R7047:Dbh	UTSW	2	27165610	missense	possibly damaging	0.87
R7591:Dbh	UTSW	2	27170510	missense	probably damaging	1.00
R7753:Dbh	UTSW	2	27171436	missense	probably benign	0.00
R7814:Dbh	UTSW	2	27174848	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATGTGCTCCACCTGGGTAG -3'
(R):5'- AACAGCTTCCATCTGTCGG -3'

Sequencing Primer
(F):5'- TAGGGGCTCCTTCCTGC -3'
(R):5'- AGCTTCCATCTGTCGGGTCTC -3'

Posted On

2019-05-15