Mutagenetix > Incidental Mutation

Incidental Mutation 'R6936:Dbh'

540276

Institutional Source

Beutler Lab

Gene Symbol

Dbh

Ensembl Gene

ENSMUSG00000000889

Gene Name

dopamine beta hydroxylase

Synonyms

MMRRC Submission

045050-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27055519-27073216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27062809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 343 (K343E)

Ref Sequence

ENSEMBL: ENSMUSP00000000910 (fasta)

Gene Model

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

AlphaFold

Q64237

Predicted Effect

probably benign
Transcript: ENSMUST00000000910
AA Change: K343E

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

SMART Domains

Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: K343E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.7%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,568 (GRCm39)	I2772F	probably damaging	Het
Adam1a	A	G	5: 121,657,425 (GRCm39)	C623R	probably damaging	Het
Ak2	T	C	4: 128,893,005 (GRCm39)	S55P	probably damaging	Het
Ak4	C	T	4: 101,304,456 (GRCm39)	A82V	probably benign	Het
Arhgap10	A	T	8: 78,037,376 (GRCm39)	C617*	probably null	Het
Art1	A	T	7: 101,755,977 (GRCm39)	D56V	possibly damaging	Het
Ascc3	A	G	10: 50,606,057 (GRCm39)	D1392G	probably damaging	Het
Bbs5	T	C	2: 69,484,698 (GRCm39)	S123P	probably damaging	Het
Cabin1	A	T	10: 75,551,592 (GRCm39)		probably null	Het
Carmil3	G	A	14: 55,739,018 (GRCm39)	E891K	probably benign	Het
Cbfa2t3	C	G	8: 123,374,478 (GRCm39)	R89P	probably damaging	Het
Ccdc157	A	G	11: 4,094,030 (GRCm39)	S534P	probably benign	Het
Cep72	A	T	13: 74,188,206 (GRCm39)	I229N	probably damaging	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Cyp2c70	A	G	19: 40,156,007 (GRCm39)	V181A	probably damaging	Het
Cyp2d26	C	T	15: 82,676,741 (GRCm39)	D202N	probably benign	Het
Dlx5	A	G	6: 6,879,585 (GRCm39)	Y161H	probably damaging	Het
Dnah5	A	T	15: 28,409,414 (GRCm39)	I3611F	probably damaging	Het
Egf	A	C	3: 129,474,853 (GRCm39)	F563V	possibly damaging	Het
Enpp1	T	C	10: 24,527,237 (GRCm39)	H650R	probably benign	Het
Exoc6	A	G	19: 37,560,311 (GRCm39)	I109M	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgg	C	T	3: 82,915,727 (GRCm39)	S56F	possibly damaging	Het
Fras1	A	G	5: 96,916,211 (GRCm39)	D3415G	possibly damaging	Het
Ghsr	A	G	3: 27,426,474 (GRCm39)	I177V	probably benign	Het
Gm1979	A	T	5: 26,207,028 (GRCm39)	H62Q	probably benign	Het
Gpatch2	A	G	1: 186,965,433 (GRCm39)	D313G	probably benign	Het
Gtf2i	C	T	5: 134,271,639 (GRCm39)	E823K	probably damaging	Het
Hook2	C	A	8: 85,729,627 (GRCm39)	T689N	probably benign	Het
Hrnr	A	T	3: 93,239,667 (GRCm39)	N3302Y	unknown	Het
Igkv7-33	G	A	6: 70,035,785 (GRCm39)	P66S	possibly damaging	Het
Kcnh2	T	A	5: 24,529,337 (GRCm39)	I800F	probably damaging	Het
Mcmbp	G	A	7: 128,326,920 (GRCm39)	Q21*	probably null	Het
Mmp21	T	C	7: 133,280,704 (GRCm39)	K89E	probably benign	Het
Or4b13	A	G	2: 90,082,678 (GRCm39)	V218A	probably benign	Het
Or52r1c	A	T	7: 102,735,021 (GRCm39)	I94F	probably damaging	Het
Pcdhga4	A	G	18: 37,820,458 (GRCm39)	D669G	possibly damaging	Het
Ralgapa1	T	C	12: 55,832,997 (GRCm39)	T169A	probably damaging	Het
Sec31a	T	C	5: 100,540,369 (GRCm39)	N35S	probably benign	Het
Serpinb5	A	T	1: 106,798,148 (GRCm39)	T46S	probably benign	Het
Svs5	A	G	2: 164,079,548 (GRCm39)	S120P	possibly damaging	Het
Tbpl2	T	C	2: 23,984,953 (GRCm39)	T64A	probably benign	Het
Tecpr2	T	A	12: 110,911,297 (GRCm39)	H1111Q	possibly damaging	Het
Tm9sf3	A	G	19: 41,211,638 (GRCm39)	F402L	probably benign	Het
Tmem120b	T	G	5: 123,254,287 (GRCm39)	V287G	possibly damaging	Het
Tmem150c	T	C	5: 100,231,577 (GRCm39)	T133A	possibly damaging	Het
Ubqln3	A	T	7: 103,791,517 (GRCm39)	V191D	probably damaging	Het
Ubr2	T	C	17: 47,283,957 (GRCm39)	E564G	possibly damaging	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	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
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
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'- AGAAAGGTCTACTTAACCCCAGG -3'
(R):5'- CCCAGGCTGAGAACTCATTAG -3'

Sequencing Primer
(F):5'- GGAGAGAATCCTTCTAACCTGGC -3'
(R):5'- GCTGAGAACTCATTAGGATGCTG -3'

Posted On

2018-11-06