Incidental Mutation 'R3710:Tph2'
ID 259556
Institutional Source Beutler Lab
Gene Symbol Tph2
Ensembl Gene ENSMUSG00000006764
Gene Name tryptophan hydroxylase 2
Synonyms
MMRRC Submission 040703-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R3710 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 114914546-115020927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115009963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 199 (Y199F)
Ref Sequence ENSEMBL: ENSMUSP00000006949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006949]
AlphaFold Q8CGV2
Predicted Effect probably benign
Transcript: ENSMUST00000006949
AA Change: Y199F

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006949
Gene: ENSMUSG00000006764
AA Change: Y199F

DomainStartEndE-ValueType
low complexity region 94 102 N/A INTRINSIC
Pfam:Biopterin_H 150 480 3.6e-177 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155794
Meta Mutation Damage Score 0.2276 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mutations in this locus result in abnormal serotonin levels in the brain. Whether an increase or decrease in serotonin levels is seen depends on the specific nucleotide substitution/point mutation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,597,384 (GRCm39) probably benign Het
Agbl2 G A 2: 90,636,152 (GRCm39) D563N probably benign Het
Aida C A 1: 183,085,610 (GRCm39) probably null Het
Ank1 A G 8: 23,577,095 (GRCm39) D200G probably damaging Het
Ankrd28 A G 14: 31,470,808 (GRCm39) probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Atrnl1 C A 19: 57,645,546 (GRCm39) H469N probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bud23 A C 5: 135,085,204 (GRCm39) S41A possibly damaging Het
Car12 G T 9: 66,658,260 (GRCm39) A21S probably damaging Het
Cav3 T A 6: 112,436,774 (GRCm39) M1K probably null Het
Cdc42bpa A G 1: 179,892,628 (GRCm39) D264G probably damaging Het
Cic A G 7: 24,986,406 (GRCm39) D1276G probably damaging Het
Col2a1 A G 15: 97,888,788 (GRCm39) probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Csn3 C A 5: 88,077,882 (GRCm39) N129K possibly damaging Het
Diaph1 C A 18: 37,978,537 (GRCm39) G1209W probably damaging Het
Dsg2 A G 18: 20,735,174 (GRCm39) T1051A probably damaging Het
Gm1965 A T 6: 89,122,407 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsto1 T C 19: 47,847,971 (GRCm39) probably null Het
Il15ra G T 2: 11,735,458 (GRCm39) probably null Het
Ipo8 A T 6: 148,707,842 (GRCm39) probably null Het
Lsm14a T A 7: 34,053,204 (GRCm39) I283F probably damaging Het
Mael T C 1: 166,066,135 (GRCm39) D34G probably damaging Het
Marchf6 A T 15: 31,509,972 (GRCm39) probably benign Het
Mtmr10 C A 7: 63,976,433 (GRCm39) A410D possibly damaging Het
Myh9 T C 15: 77,657,547 (GRCm39) E1066G possibly damaging Het
Nim1k A G 13: 120,173,635 (GRCm39) S420P probably benign Het
Nlrp4c T A 7: 6,068,627 (GRCm39) V176E probably damaging Het
Ogfod1 A T 8: 94,784,380 (GRCm39) K313* probably null Het
Or5an1 T G 19: 12,260,450 (GRCm39) F13V probably damaging Het
Osbpl10 C A 9: 115,036,655 (GRCm39) P253Q probably benign Het
Otof A T 5: 30,542,610 (GRCm39) M661K probably benign Het
Rbms2 C T 10: 127,979,312 (GRCm39) R139Q probably damaging Het
Rimbp2 G A 5: 128,866,795 (GRCm39) T508I probably benign Het
Ros1 A T 10: 52,037,991 (GRCm39) C393* probably null Het
Rps17 T A 7: 80,994,672 (GRCm39) T30S probably benign Het
Rps3 T C 7: 99,128,626 (GRCm39) K197R probably benign Het
Samd11 G A 4: 156,334,952 (GRCm39) L109F probably damaging Het
Smarca2 T G 19: 26,646,290 (GRCm39) probably benign Het
Sprr2g C A 3: 92,282,036 (GRCm39) P30Q unknown Het
Spz1 G A 13: 92,711,631 (GRCm39) Q282* probably null Het
Syne3 A G 12: 104,909,697 (GRCm39) L713P possibly damaging Het
Tgm1 C A 14: 55,950,052 (GRCm39) probably benign Het
Tomm22 T C 15: 79,555,419 (GRCm39) F55L probably damaging Het
Vmn2r108 A T 17: 20,682,932 (GRCm39) F757L probably benign Het
Vmn2r69 T A 7: 85,055,601 (GRCm39) T846S probably benign Het
Was G T X: 7,952,927 (GRCm39) S271R probably benign Het
Zc3hav1 A C 6: 38,309,097 (GRCm39) M575R probably benign Het
Other mutations in Tph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Tph2 APN 10 114,915,664 (GRCm39) nonsense probably null
IGL01989:Tph2 APN 10 114,981,921 (GRCm39) missense probably benign 0.22
IGL02363:Tph2 APN 10 114,915,886 (GRCm39) missense probably benign 0.01
IGL02667:Tph2 APN 10 114,915,950 (GRCm39) missense probably benign 0.43
R0390:Tph2 UTSW 10 115,010,014 (GRCm39) missense probably damaging 1.00
R0400:Tph2 UTSW 10 114,916,025 (GRCm39) splice site probably benign
R0570:Tph2 UTSW 10 115,010,039 (GRCm39) splice site probably benign
R1466:Tph2 UTSW 10 114,915,600 (GRCm39) missense probably benign
R1466:Tph2 UTSW 10 114,915,600 (GRCm39) missense probably benign
R1654:Tph2 UTSW 10 115,020,712 (GRCm39) missense probably benign
R3705:Tph2 UTSW 10 114,955,798 (GRCm39) nonsense probably null
R3777:Tph2 UTSW 10 114,915,910 (GRCm39) missense probably benign
R4794:Tph2 UTSW 10 115,018,675 (GRCm39) missense possibly damaging 0.84
R5015:Tph2 UTSW 10 114,915,621 (GRCm39) missense probably benign 0.01
R5068:Tph2 UTSW 10 114,987,079 (GRCm39) missense probably benign 0.00
R5069:Tph2 UTSW 10 114,987,079 (GRCm39) missense probably benign 0.00
R5070:Tph2 UTSW 10 114,987,079 (GRCm39) missense probably benign 0.00
R5422:Tph2 UTSW 10 114,915,669 (GRCm39) missense possibly damaging 0.94
R5487:Tph2 UTSW 10 114,955,779 (GRCm39) missense probably damaging 1.00
R5604:Tph2 UTSW 10 114,926,614 (GRCm39) missense probably damaging 1.00
R5692:Tph2 UTSW 10 115,020,732 (GRCm39) missense probably damaging 0.97
R6368:Tph2 UTSW 10 115,015,231 (GRCm39) missense probably damaging 1.00
R6802:Tph2 UTSW 10 115,020,778 (GRCm39) missense probably damaging 1.00
R6823:Tph2 UTSW 10 115,010,011 (GRCm39) missense probably benign 0.02
R7371:Tph2 UTSW 10 114,987,016 (GRCm39) missense probably damaging 1.00
R7724:Tph2 UTSW 10 114,915,727 (GRCm39) missense probably benign
R7863:Tph2 UTSW 10 114,915,906 (GRCm39) missense probably damaging 1.00
R8046:Tph2 UTSW 10 115,015,499 (GRCm39) missense possibly damaging 0.62
R8738:Tph2 UTSW 10 115,015,614 (GRCm39) splice site probably benign
R9464:Tph2 UTSW 10 114,915,992 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTAACACTAGGGATGGAGCC -3'
(R):5'- CAGTCGGTCATCTGAGGATACG -3'

Sequencing Primer
(F):5'- CCGCAGAGCTCATGATTTCAGATG -3'
(R):5'- CGGTCATCTGAGGATACGATTTAC -3'
Posted On 2015-01-23