Incidental Mutation 'IGL02896:Th'
ID 363415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Th
Ensembl Gene ENSMUSG00000000214
Gene Name tyrosine hydroxylase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02896
Quality Score
Status
Chromosome 7
Chromosomal Location 142446516-142453732 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 142449168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 289 (R289Q)
Ref Sequence ENSEMBL: ENSMUSP00000000219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000219] [ENSMUST00000105929] [ENSMUST00000123057] [ENSMUST00000124951] [ENSMUST00000140344]
AlphaFold P24529
Predicted Effect probably damaging
Transcript: ENSMUST00000000219
AA Change: R289Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000219
Gene: ENSMUSG00000000214
AA Change: R289Q

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 damaging
Transcript: ENSMUST00000105929
AA Change: R194Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101549
Gene: ENSMUSG00000000214
AA Change: R194Q

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
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A G 8: 88,315,648 (GRCm39) D246G probably damaging Het
Adcy2 A G 13: 68,875,991 (GRCm39) S504P probably damaging Het
Adgrv1 A T 13: 81,668,858 (GRCm39) I2566K probably damaging Het
Als2 A G 1: 59,222,946 (GRCm39) V1108A probably benign Het
Atad2b T A 12: 5,008,151 (GRCm39) F466I probably damaging Het
Cyp2a22 T C 7: 26,635,886 (GRCm39) M226V probably damaging Het
D5Ertd579e T C 5: 36,771,326 (GRCm39) D1023G possibly damaging Het
D630003M21Rik T C 2: 158,059,205 (GRCm39) I232V probably benign Het
Dolpp1 T C 2: 30,286,242 (GRCm39) S114P probably damaging Het
Fars2 T A 13: 36,388,825 (GRCm39) S105T probably benign Het
Fndc7 T C 3: 108,770,247 (GRCm39) I560V probably benign Het
Gcn1 T C 5: 115,757,707 (GRCm39) probably benign Het
Gm5134 T C 10: 75,810,058 (GRCm39) L113P possibly damaging Het
Hipk2 G T 6: 38,675,382 (GRCm39) H1066Q probably damaging Het
Katnb1 A G 8: 95,822,656 (GRCm39) probably benign Het
Lrrd1 T A 5: 3,901,473 (GRCm39) S593T probably benign Het
Mastl T C 2: 23,021,779 (GRCm39) R713G probably damaging Het
Meak7 T C 8: 120,489,164 (GRCm39) D373G probably damaging Het
Mrgpra6 T A 7: 46,838,655 (GRCm39) D181V probably benign Het
Mroh7 C T 4: 106,557,013 (GRCm39) V828I possibly damaging Het
Nbeal2 A G 9: 110,468,360 (GRCm39) probably null Het
Nckap5l G T 15: 99,325,091 (GRCm39) Q471K possibly damaging Het
Or12j5 T C 7: 140,083,968 (GRCm39) probably null Het
Or1j15 A T 2: 36,459,217 (GRCm39) L202F possibly damaging Het
Or5an1c A T 19: 12,218,353 (GRCm39) L224* probably null Het
Pfn4 A G 12: 4,825,451 (GRCm39) N96S probably benign Het
Ppp1r3c G A 19: 36,710,865 (GRCm39) P302S probably benign Het
Senp2 T G 16: 21,837,118 (GRCm39) Y122* probably null Het
Slc5a7 C A 17: 54,600,045 (GRCm39) G123* probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tent2 A T 13: 93,304,945 (GRCm39) N280K probably damaging Het
Tigit C T 16: 43,482,561 (GRCm39) V58I probably benign Het
Ush1c C A 7: 45,847,839 (GRCm39) V810L probably benign Het
Vmn2r120 C A 17: 57,816,008 (GRCm39) K782N probably damaging 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
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
R2850:Th UTSW 7 142,447,812 (GRCm39) nonsense probably null
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
Posted On 2015-12-18