Incidental Mutation 'R1914:Dbh'
ID 214648
Institutional Source Beutler Lab
Gene Symbol Dbh
Ensembl Gene ENSMUSG00000000889
Gene Name dopamine beta hydroxylase
Synonyms
MMRRC Submission 039932-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1914 (G1)
Quality Score 220
Status Validated
Chromosome 2
Chromosomal Location 27055519-27073216 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27058234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 134 (D134G)
Ref Sequence ENSEMBL: ENSMUSP00000000910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000910]
AlphaFold Q64237
Predicted Effect probably damaging
Transcript: ENSMUST00000000910
AA Change: D134G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: D134G

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
Meta Mutation Damage Score 0.8545 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 99% (90/91)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,622,386 (GRCm39) V618E possibly damaging Het
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Akap12 G A 10: 4,306,685 (GRCm39) R1165H probably benign Het
Asxl1 T C 2: 153,243,826 (GRCm39) S1459P probably damaging Het
Bahcc1 C T 11: 120,176,225 (GRCm39) R1957C probably damaging Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Capn15 C A 17: 26,183,837 (GRCm39) A215S probably benign Het
Casz1 T C 4: 149,017,415 (GRCm39) F235L probably damaging Het
Ccdc57 A T 11: 120,794,134 (GRCm39) probably benign Het
Cdh23 A G 10: 60,159,349 (GRCm39) V2142A probably damaging Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep104 T C 4: 154,074,296 (GRCm39) L516P possibly damaging Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Diaph3 A C 14: 86,893,921 (GRCm39) N29K probably damaging Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Ephb1 C T 9: 101,806,577 (GRCm39) C819Y probably damaging Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Fezf2 A T 14: 12,343,988 (GRCm38) V301E probably damaging Het
Fnbp4 T C 2: 90,609,537 (GRCm39) probably benign Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gas6 T C 8: 13,527,152 (GRCm39) T199A probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Grm4 A T 17: 27,653,686 (GRCm39) C755S probably damaging Het
Hdgfl2 A G 17: 56,403,978 (GRCm39) D278G probably damaging Het
Heatr5a G T 12: 51,952,250 (GRCm39) A1130E probably damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Ing1 T A 8: 11,611,577 (GRCm39) V63E probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Klf5 T C 14: 99,539,357 (GRCm39) S177P probably benign Het
Lats1 T A 10: 7,586,221 (GRCm39) probably benign Het
Lilrb4a A G 10: 51,368,045 (GRCm39) I53M probably benign Het
Lrrc2 T A 9: 110,810,007 (GRCm39) Y348N probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Med25 A G 7: 44,534,046 (GRCm39) S245P probably benign Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Naip6 T A 13: 100,435,936 (GRCm39) E862D probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nyap2 T C 1: 81,169,602 (GRCm39) S120P probably damaging Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Pappa2 A T 1: 158,578,133 (GRCm39) D1721E probably damaging Het
Pcid2 A T 8: 13,144,141 (GRCm39) probably null Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rabggta A T 14: 55,958,646 (GRCm39) F62L possibly damaging Het
Rasal3 G A 17: 32,615,324 (GRCm39) Q505* probably null Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsph4a A T 10: 33,789,068 (GRCm39) N638Y probably damaging Het
Scn9a A G 2: 66,396,594 (GRCm39) F100L probably damaging Het
Siglece A G 7: 43,307,219 (GRCm39) V256A probably benign Het
Slc23a2 A T 2: 131,898,686 (GRCm39) L617Q probably damaging Het
Snx9 T C 17: 5,978,531 (GRCm39) I567T possibly damaging Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tbl1xr1 T C 3: 22,245,074 (GRCm39) probably benign Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Trim43c T A 9: 88,722,670 (GRCm39) D105E probably benign Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Vmn2r18 T C 5: 151,499,286 (GRCm39) N393D probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly 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
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
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'- AACGATCAGCAGCTTCCTAG -3'
(R):5'- AAACAGCTTCCATCTGTCGGG -3'

Sequencing Primer
(F):5'- GCTTCCTAGCCCTGCTGG -3'
(R):5'- ATACACACTCTACCCATGGCTTC -3'
Posted On 2014-07-14