Incidental Mutation 'IGL02297:Dbh'
ID290203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbh
Ensembl Gene ENSMUSG00000000889
Gene Namedopamine beta hydroxylase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02297
Quality Score
Status
Chromosome2
Chromosomal Location27165233-27183200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27177736 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 457 (V457A)
Ref Sequence ENSEMBL: ENSMUSP00000000910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000910]
Predicted Effect probably benign
Transcript: ENSMUST00000000910
AA Change: V457A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: V457A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155290
Coding Region Coverage
Validation Efficiency
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm2 C T 10: 61,735,548 A287V possibly damaging Het
Aqr A G 2: 114,150,481 I273T probably benign Het
Arid3c T C 4: 41,730,021 E58G possibly damaging Het
Col5a3 G T 9: 20,772,154 T1574K unknown Het
Gm12888 T C 4: 121,324,799 E32G probably damaging Het
Gnaq A G 19: 16,378,251 D277G probably damaging Het
Il20 G A 1: 130,908,408 H133Y probably damaging Het
Itpr1 T A 6: 108,339,517 F58L possibly damaging Het
Lynx1 G T 15: 74,751,642 Q19K probably benign Het
Lyst G T 13: 13,638,092 E1030* probably null Het
Matn1 T A 4: 130,952,264 probably benign Het
Nav2 A T 7: 49,594,229 N2068I probably damaging Het
Olfr1469 C T 19: 13,411,475 T302I probably benign Het
Olfr948 T C 9: 39,318,703 I304V possibly damaging Het
Slc25a23 G T 17: 57,053,324 Q273K probably benign Het
Slco4a1 T G 2: 180,464,489 C155G probably benign Het
Txnip T C 3: 96,558,357 V41A probably damaging Het
Wnt16 C A 6: 22,297,991 Y285* probably null Het
Other mutations in Dbh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Dbh APN 2 27165544 missense probably benign 0.00
IGL02169:Dbh APN 2 27174898 missense probably damaging 1.00
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
Posted On2015-04-16