Incidental Mutation 'R2850:Th'
ID 252086
Institutional Source Beutler Lab
Gene Symbol Th
Ensembl Gene ENSMUSG00000000214
Gene Name tyrosine hydroxylase
Synonyms
MMRRC Submission 040443-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2850 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 142446516-142453732 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 142447812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 329 (Q329*)
Ref Sequence ENSEMBL: ENSMUSP00000101549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000219] [ENSMUST00000105929] [ENSMUST00000123057] [ENSMUST00000124951] [ENSMUST00000140344]
AlphaFold P24529
Predicted Effect probably null
Transcript: ENSMUST00000000219
AA Change: Q424*
SMART Domains Protein: ENSMUSP00000000219
Gene: ENSMUSG00000000214
AA Change: Q424*

DomainStartEndE-ValueType
Pfam:TOH_N 2 26 2.3e-15 PFAM
Pfam:TOH_N 29 49 2.6e-11 PFAM
low complexity region 51 63 N/A INTRINSIC
PDB:2MDA|B 65 146 1e-49 PDB
low complexity region 147 158 N/A INTRINSIC
Pfam:Biopterin_H 165 495 1.2e-180 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105929
AA Change: Q329*
SMART Domains Protein: ENSMUSP00000101549
Gene: ENSMUSG00000000214
AA Change: Q329*

DomainStartEndE-ValueType
PDB:2MDA|B 8 51 1e-21 PDB
low complexity region 52 63 N/A INTRINSIC
Pfam:Biopterin_H 70 401 2.2e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123057
Predicted Effect probably benign
Transcript: ENSMUST00000124951
SMART Domains Protein: ENSMUSP00000122876
Gene: ENSMUSG00000000214

DomainStartEndE-ValueType
Pfam:TOH_N 2 26 5e-16 PFAM
Pfam:TOH_N 28 49 4.1e-10 PFAM
low complexity region 51 63 N/A INTRINSIC
PDB:2MDA|B 65 146 2e-52 PDB
low complexity region 147 158 N/A INTRINSIC
Pfam:Biopterin_H 165 232 7.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138482
Predicted Effect probably benign
Transcript: ENSMUST00000140344
SMART Domains Protein: ENSMUSP00000115434
Gene: ENSMUSG00000000214

DomainStartEndE-ValueType
Pfam:TOH_N 11 29 5.2e-9 PFAM
low complexity region 31 43 N/A INTRINSIC
PDB:2MDA|B 45 126 7e-53 PDB
low complexity region 127 138 N/A INTRINSIC
Pfam:Biopterin_H 145 171 3.9e-11 PFAM
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (57/57)
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 involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are deficient in catecholamines, and usually die around embryonic day 11.5-15.5 due to cardiac failure. Treatment of the pregnant female with dihydroxyphenylalanine prevents prenatal mortality. Mice homozygous for hypomorphic targeted alleles are hypokinetic. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Ago1 T C 4: 126,336,868 (GRCm39) probably benign Het
Ahi1 C T 10: 20,876,492 (GRCm39) T801I probably benign Het
Alms1 T C 6: 85,598,281 (GRCm39) S1505P probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Anxa6 T A 11: 54,901,852 (GRCm39) Y95F possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Clk1 A G 1: 58,451,438 (GRCm39) L457S probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Cntnap5c T A 17: 58,717,343 (GRCm39) probably benign Het
Corin A G 5: 72,462,298 (GRCm39) V837A probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Cubn G A 2: 13,327,764 (GRCm39) T2687I probably damaging Het
Cypt3 T A X: 152,342,274 (GRCm39) N168K probably damaging Het
E330020D12Rik A G 1: 153,282,336 (GRCm39) noncoding transcript Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Fbxo22 T C 9: 55,130,699 (GRCm39) F323L probably damaging Het
Fnip1 A T 11: 54,393,503 (GRCm39) E646D probably benign Het
Gid4 G A 11: 60,329,400 (GRCm39) probably null Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Gpank1 A G 17: 35,343,557 (GRCm39) S346G probably benign Het
Gtf3c6 T C 10: 40,130,254 (GRCm39) probably benign Het
Hdx T C X: 110,502,720 (GRCm39) I562V probably benign Het
Ifrd2 T C 9: 107,468,908 (GRCm39) probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Kif11 C A 19: 37,397,941 (GRCm39) D630E probably benign Het
Lpl G T 8: 69,352,164 (GRCm39) E372* probably null Het
Mrps26 T C 2: 130,406,967 (GRCm39) V198A probably benign Het
Mucl1 T C 15: 103,782,348 (GRCm39) N201S possibly damaging Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nfat5 A G 8: 108,020,492 (GRCm39) D12G probably damaging Het
Or5b102 T C 19: 13,040,934 (GRCm39) L53P probably damaging Het
Pik3r3 A G 4: 116,127,981 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,350,622 (GRCm39) V489E possibly damaging Het
Pkhd1 T C 1: 20,579,300 (GRCm39) E1802G possibly damaging Het
Plb1 T A 5: 32,450,568 (GRCm39) S370T probably benign Het
Ppat G A 5: 77,067,222 (GRCm39) T337I probably benign Het
Prkd3 A G 17: 79,262,025 (GRCm39) V763A possibly damaging Het
Prr9 A T 3: 92,030,476 (GRCm39) S55T probably benign Het
Rbpms G T 8: 34,324,405 (GRCm39) N108K possibly damaging Het
Rc3h2 A T 2: 37,267,427 (GRCm39) D972E probably benign Het
Rrbp1 C T 2: 143,791,269 (GRCm39) R1378Q probably benign Het
Slc26a7 T A 4: 14,593,806 (GRCm39) probably benign Het
Stard6 T A 18: 70,616,522 (GRCm39) H60Q probably benign Het
Sult6b2 T C 6: 142,743,613 (GRCm39) T138A probably benign Het
Tmco3 A G 8: 13,345,024 (GRCm39) H268R probably benign Het
Tnn T C 1: 159,966,857 (GRCm39) D429G probably benign Het
Tnrc6a G A 7: 122,779,023 (GRCm39) G1245R probably damaging Het
Trem3 C A 17: 48,556,669 (GRCm39) L47M probably benign Het
Trpm6 T A 19: 18,769,454 (GRCm39) C307S possibly damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm39) N231K probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Wdr81 A T 11: 75,341,998 (GRCm39) S1090T probably damaging Het
Ythdf3 T C 3: 16,257,982 (GRCm39) probably benign Het
Zfp280d A G 9: 72,219,371 (GRCm39) T183A probably benign Het
Zfp354c G A 11: 50,706,158 (GRCm39) Q306* probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R probably benign Het
Other mutations in Th
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Th APN 7 142,450,763 (GRCm39) missense probably benign 0.01
IGL02308:Th APN 7 142,451,794 (GRCm39) missense possibly damaging 0.69
IGL02417:Th APN 7 142,453,643 (GRCm39) missense probably damaging 1.00
IGL02565:Th APN 7 142,453,647 (GRCm39) missense probably damaging 1.00
IGL02896:Th APN 7 142,449,168 (GRCm39) missense probably damaging 1.00
R0311:Th UTSW 7 142,449,778 (GRCm39) missense probably damaging 1.00
R1072:Th UTSW 7 142,448,225 (GRCm39) missense probably benign
R1595:Th UTSW 7 142,450,745 (GRCm39) missense probably benign 0.06
R1756:Th UTSW 7 142,451,903 (GRCm39) nonsense probably null
R2091:Th UTSW 7 142,449,280 (GRCm39) missense probably damaging 0.98
R3151:Th UTSW 7 142,447,812 (GRCm39) nonsense probably null
R4458:Th UTSW 7 142,450,690 (GRCm39) missense probably benign 0.41
R4870:Th UTSW 7 142,447,834 (GRCm39) missense probably benign
R5382:Th UTSW 7 142,449,177 (GRCm39) missense probably damaging 1.00
R7874:Th UTSW 7 142,449,308 (GRCm39) nonsense probably null
R8049:Th UTSW 7 142,447,860 (GRCm39) missense probably damaging 1.00
R8425:Th UTSW 7 142,447,823 (GRCm39) missense possibly damaging 0.86
R8431:Th UTSW 7 142,446,801 (GRCm39) missense probably benign 0.00
R8970:Th UTSW 7 142,446,796 (GRCm39) missense probably damaging 1.00
R9484:Th UTSW 7 142,453,620 (GRCm39) nonsense probably null
R9745:Th UTSW 7 142,448,851 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGAGCAGGGTAATCTCAAGC -3'
(R):5'- TCTAGAGAGTGTATGCCTCTGG -3'

Sequencing Primer
(F):5'- GGGTAATCTCAAGCATGAACTCTTG -3'
(R):5'- TGGCCAGACCCCACTGTAC -3'
Posted On 2014-12-04