Mutagenetix > Incidental Mutation

Incidental Mutation 'R7047:Dbh'

547353

Institutional Source

Beutler Lab

Gene Symbol

Dbh

Ensembl Gene

ENSMUSG00000000889

Gene Name

dopamine beta hydroxylase

Synonyms

MMRRC Submission

045145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27055519-27073216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27055622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 32 (I32N)

Ref Sequence

ENSEMBL: ENSMUSP00000000910 (fasta)

Gene Model

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

AlphaFold

Q64237

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000910
AA Change: I32N

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: I32N

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,131 (GRCm39)	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,087,585 (GRCm39)	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,162,145 (GRCm39)	I95V	probably damaging	Het
Anapc1	A	C	2: 128,457,350 (GRCm39)	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,693,865 (GRCm39)		probably null	Het
Capn11	G	T	17: 45,949,622 (GRCm39)	S448*	probably null	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Cep55	T	A	19: 38,048,539 (GRCm39)	V65D	possibly damaging	Het
Col5a1	A	G	2: 27,818,096 (GRCm39)	K107R	unknown	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,802,489 (GRCm39)	N13K	probably benign	Het
Emilin1	A	G	5: 31,074,422 (GRCm39)	N221S	probably benign	Het
Ext2	A	G	2: 93,570,002 (GRCm39)	F470L	probably damaging	Het
Filip1	T	A	9: 79,760,916 (GRCm39)	Q206L	probably damaging	Het
Garin1b	T	A	6: 29,323,809 (GRCm39)	L178H	probably damaging	Het
Gpr63	G	T	4: 25,007,320 (GRCm39)	A15S	probably benign	Het
Grhl3	T	C	4: 135,276,551 (GRCm39)		probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Ift172	G	T	5: 31,433,238 (GRCm39)	Y193*	probably null	Het
Ints1	A	C	5: 139,744,226 (GRCm39)	L1512*	probably null	Het
Kat2b	A	G	17: 53,970,597 (GRCm39)	Q661R	probably benign	Het
Kat6a	A	G	8: 23,428,554 (GRCm39)	N1303S	possibly damaging	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Maml2	T	C	9: 13,532,177 (GRCm39)		probably benign	Het
Mixl1	A	G	1: 180,524,183 (GRCm39)		probably null	Het
Mocs1	T	C	17: 49,759,887 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,962,236 (GRCm39)	N36T	probably damaging	Het
Msr1	G	A	8: 40,095,657 (GRCm39)	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,490,199 (GRCm39)	Y509*	probably null	Het
Nsmce1	C	A	7: 125,090,606 (GRCm39)	G4C	probably benign	Het
Or4c113	A	T	2: 88,885,490 (GRCm39)	F93L	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,918 (GRCm39)	V83A	probably damaging	Het
Pan3	G	A	5: 147,483,175 (GRCm39)	G452D	probably damaging	Het
Pcyox1	G	T	6: 86,365,891 (GRCm39)	P441H	probably damaging	Het
Phf12	T	C	11: 77,904,099 (GRCm39)	V273A	probably damaging	Het
Plcd4	A	G	1: 74,591,148 (GRCm39)	E181G	possibly damaging	Het
Ptgfr	A	T	3: 151,541,178 (GRCm39)	I110N	possibly damaging	Het
Rab40c	A	C	17: 26,138,458 (GRCm39)	V8G	probably damaging	Het
Rasal3	T	A	17: 32,615,458 (GRCm39)	Y460F	probably damaging	Het
Rhbdf2	A	G	11: 116,494,477 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,839,286 (GRCm39)	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,450,451 (GRCm39)	I4166F	probably damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Smarca2	C	T	19: 26,646,555 (GRCm39)	S651L	possibly damaging	Het
Sned1	A	T	1: 93,213,540 (GRCm39)	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,860,249 (GRCm39)	Y41H	probably damaging	Het
Stab2	C	T	10: 86,694,016 (GRCm39)	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,844,294 (GRCm39)	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,074,679 (GRCm39)	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,720,112 (GRCm39)	T116S	probably benign	Het
Tnfrsf19	A	T	14: 61,242,667 (GRCm39)	C72*	probably null	Het
Usp17le	T	A	7: 104,417,640 (GRCm39)	T501S	probably benign	Het
Wnt5b	T	A	6: 119,425,217 (GRCm39)		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
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
R6936:Dbh	UTSW	2	27,062,809 (GRCm39)	missense	probably benign
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'- ACCAGACAAATGTGATTAGGTGC -3'
(R):5'- TGAGATCTGCGTTCTCCATC -3'

Sequencing Primer
(F):5'- GTGCAGCCTGGCCCAAC -3'
(R):5'- TCGATCTGACATTCCAAACAGG -3'

Posted On

2019-05-13