Mutagenetix > Incidental Mutation

Incidental Mutation 'R8525:Dbh'

658742

Institutional Source

Beutler Lab

Gene Symbol

Dbh

Ensembl Gene

ENSMUSG00000000889

Gene Name

dopamine beta hydroxylase

Synonyms

MMRRC Submission

067950-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27055519-27073216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27055798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 91 (F91L)

Ref Sequence

ENSEMBL: ENSMUSP00000000910 (fasta)

Gene Model

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

AlphaFold

Q64237

Predicted Effect

probably benign
Transcript: ENSMUST00000000910
AA Change: F91L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: F91L

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: 99.0%

Validation Efficiency

98% (49/50)

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
2310022A10Rik	A	T	7: 27,255,936 (GRCm39)	N8Y	possibly damaging	Het
4932414N04Rik	A	T	2: 68,559,378 (GRCm39)	D197V	possibly damaging	Het
Aar2	G	A	2: 156,397,837 (GRCm39)	R283Q	probably benign	Het
Acsf2	T	A	11: 94,463,446 (GRCm39)	I119F	probably benign	Het
Adamtsl1	C	T	4: 86,195,247 (GRCm39)	P572S	probably damaging	Het
Adh5	A	T	3: 138,157,095 (GRCm39)	I219F	probably damaging	Het
Arhgap23	T	A	11: 97,380,910 (GRCm39)	F1098I	probably damaging	Het
Bicc1	G	T	10: 70,779,365 (GRCm39)	H674Q	possibly damaging	Het
Ccdc39	C	T	3: 33,868,853 (GRCm39)	R786H	probably benign	Het
Ccr1l1	A	G	9: 123,777,589 (GRCm39)	I286T	possibly damaging	Het
Ccr9	T	A	9: 123,608,732 (GRCm39)	M138K	probably benign	Het
Dip2a	T	A	10: 76,110,115 (GRCm39)		probably null	Het
Eif3j1	A	G	2: 121,880,991 (GRCm39)	I148V	probably damaging	Het
Etl4	A	G	2: 20,534,892 (GRCm39)	R116G	probably damaging	Het
Exoc6	C	A	19: 37,597,440 (GRCm39)	Q614K	possibly damaging	Het
Gabpb1	A	G	2: 126,494,194 (GRCm39)	S144P	possibly damaging	Het
Galnt13	G	A	2: 54,950,488 (GRCm39)	V390M	possibly damaging	Het
Gimap5	T	C	6: 48,729,501 (GRCm39)	S24P	probably benign	Het
Gm4924	T	A	10: 82,213,701 (GRCm39)		probably benign	Het
Gucy1a2	T	A	9: 3,865,365 (GRCm39)	I613K	probably damaging	Het
Hsp90ab1	T	A	17: 45,880,726 (GRCm39)	E115D	probably benign	Het
Hspg2	T	C	4: 137,266,759 (GRCm39)	V1949A	probably damaging	Het
Ice2	A	G	9: 69,318,698 (GRCm39)	Y294C	probably damaging	Het
Il17ra	T	G	6: 120,451,298 (GRCm39)	Y157*	probably null	Het
Ipo13	T	C	4: 117,762,126 (GRCm39)	E416G	probably damaging	Het
Large1	C	T	8: 73,564,120 (GRCm39)	V549M	probably damaging	Het
Mmp17	A	G	5: 129,679,271 (GRCm39)	D390G	probably damaging	Het
Mrps10	T	G	17: 47,683,371 (GRCm39)	I102R	probably damaging	Het
Mycbp2	A	G	14: 103,450,155 (GRCm39)	L1712P	probably damaging	Het
Nipal2	A	G	15: 34,584,815 (GRCm39)	M251T	probably damaging	Het
Nup160	G	A	2: 90,548,440 (GRCm39)		probably null	Het
Or5ac19	A	T	16: 59,089,571 (GRCm39)	V153D	probably benign	Het
Or6f2	T	C	7: 139,756,255 (GRCm39)	I74T	probably damaging	Het
Pdcd11	G	A	19: 47,081,337 (GRCm39)	D34N	possibly damaging	Het
Pigb	G	T	9: 72,924,809 (GRCm39)	P450Q	probably damaging	Het
Radil	A	C	5: 142,474,256 (GRCm39)	L730R	probably damaging	Het
Rsbn1	G	T	3: 103,821,538 (GRCm39)		probably benign	Het
Sec24b	T	C	3: 129,805,467 (GRCm39)	D264G	probably damaging	Het
Shank3	C	G	15: 89,431,973 (GRCm39)	S906C	probably damaging	Het
Slc1a3	A	G	15: 8,672,459 (GRCm39)	V340A	possibly damaging	Het
Slc1a3	A	T	15: 8,680,423 (GRCm39)	I145N	possibly damaging	Het
Slc35f4	A	T	14: 49,541,681 (GRCm39)	S208T	possibly damaging	Het
Spopfm1	A	G	3: 94,173,862 (GRCm39)	N290S	probably benign	Het
Tmem132b	A	G	5: 125,715,380 (GRCm39)	D363G	probably benign	Het
Tox3	T	G	8: 91,001,309 (GRCm39)	N34T	probably damaging	Het
Vmn1r231	T	A	17: 21,110,001 (GRCm39)	I305L	probably benign	Het
Vps18	A	G	2: 119,120,711 (GRCm39)	I57V	possibly damaging	Het
Zfhx4	T	G	3: 5,464,603 (GRCm39)	L1587R	probably damaging	Het
Zfp112	A	G	7: 23,825,322 (GRCm39)	N430S	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
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
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'- TTCCATGTACGGCACTGCTG -3'
(R):5'- GGCAAGCTTTCTTTGCTGACTG -3'

Sequencing Primer
(F):5'- GCTGTGGCCATCTTCCTGG -3'
(R):5'- CAAGCTTTCTTTGCTGACTGTAGAGC -3'

Posted On

2021-01-18