Incidental Mutation 'R7591:Dbh'
ID 587387
Institutional Source Beutler Lab
Gene Symbol Dbh
Ensembl Gene ENSMUSG00000000889
Gene Name dopamine beta hydroxylase
Synonyms
MMRRC Submission 045638-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7591 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 27055519-27073216 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27060522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 233 (T233A)
Ref Sequence ENSEMBL: ENSMUSP00000000910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000910]
AlphaFold Q64237
Predicted Effect probably damaging
Transcript: ENSMUST00000000910
AA Change: T233A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: T233A

DomainStartEndE-ValueType
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: 99.2%
Validation Efficiency 100% (45/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccne2 T C 4: 11,201,393 (GRCm39) I307T probably benign Het
Chrm3 A T 13: 9,927,349 (GRCm39) C562* probably null Het
Cldn11 A T 3: 31,204,436 (GRCm39) E46D probably benign Het
Cyp4a14 A G 4: 115,347,157 (GRCm39) probably null Het
Dennd2c T A 3: 103,040,661 (GRCm39) Y309N possibly damaging Het
Dnttip2 T A 3: 122,070,117 (GRCm39) L444* probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epop A T 11: 97,519,158 (GRCm39) V317E probably damaging Het
Eppk1 T C 15: 75,991,797 (GRCm39) T1695A possibly damaging Het
Fam149a T A 8: 45,803,472 (GRCm39) I421F possibly damaging Het
Impa2 T C 18: 67,451,480 (GRCm39) L258P probably damaging Het
Itga1 G A 13: 115,119,315 (GRCm39) R855W probably damaging Het
Kcnh5 T C 12: 75,054,541 (GRCm39) T468A probably benign Het
Kif11 A G 19: 37,372,711 (GRCm39) K33R probably damaging Het
Lamb1 C A 12: 31,376,647 (GRCm39) A1657E probably damaging Het
Macc1 T C 12: 119,410,393 (GRCm39) V387A probably damaging Het
Nalcn T C 14: 123,561,297 (GRCm39) T734A probably benign Het
Nphp3 T C 9: 103,895,477 (GRCm39) probably null Het
Nutm2 A G 13: 50,627,903 (GRCm39) I461M probably damaging Het
Or14p1 T C 13: 65,292,462 (GRCm39) F130L probably benign Het
Or4p7 G A 2: 88,222,220 (GRCm39) V210M probably benign Het
Or4s2 A C 2: 88,473,811 (GRCm39) K233N probably damaging Het
Or5b112 A G 19: 13,319,619 (GRCm39) S166G probably benign Het
Pigo T C 4: 43,025,093 (GRCm39) N2S probably benign Het
Plcl1 A T 1: 55,736,608 (GRCm39) I650L probably benign Het
Ppcdc A T 9: 57,342,262 (GRCm39) V20D probably damaging Het
Pramel27 A T 4: 143,577,481 (GRCm39) I88L probably benign Het
Rhobtb2 A G 14: 70,037,190 (GRCm39) V78A possibly damaging Het
Rp1l1 T C 14: 64,263,558 (GRCm39) V226A probably damaging Het
Scrt1 C A 15: 76,403,694 (GRCm39) G99C probably damaging Het
Skint9 A T 4: 112,248,147 (GRCm39) I199N probably damaging Het
Slc5a4a T C 10: 75,983,501 (GRCm39) probably benign Het
Smad3 C T 9: 63,561,999 (GRCm39) W326* probably null Het
Spata18 A T 5: 73,829,759 (GRCm39) I305F Het
Spata31h1 C A 10: 82,128,046 (GRCm39) V1655F probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Syne3 A G 12: 104,906,863 (GRCm39) probably null Het
Trim69 G A 2: 121,998,454 (GRCm39) R142Q probably benign Het
Vmn1r40 A T 6: 89,691,755 (GRCm39) I191F probably benign Het
Vmn2r16 T A 5: 109,510,223 (GRCm39) D535E probably damaging Het
Vwa5b2 A G 16: 20,420,317 (GRCm39) E742G probably damaging Het
Zfp442 A T 2: 150,250,092 (GRCm39) Y603* probably null Het
Zp1 T C 19: 10,896,835 (GRCm39) N68S probably damaging Het
Other mutations in Dbh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGGAAGAGCCATTTCAGTCG -3'
(R):5'- GCTCCAGGCAGGTAAGATAG -3'

Sequencing Primer
(F):5'- AGAGCCATTTCAGTCGCTGGAG -3'
(R):5'- TAGGAAATATTCATCTCAGGGGCCC -3'
Posted On 2019-10-24