Incidental Mutation 'R5487:Tph2'
| ID |
430423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tph2
|
| Ensembl Gene |
ENSMUSG00000006764 |
| Gene Name |
tryptophan hydroxylase 2 |
| Synonyms |
|
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
114914546-115020927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114955779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 338
(G338D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006949]
|
| AlphaFold |
Q8CGV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006949
AA Change: G338D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006949
Gene: ENSMUSG00000006764
AA Change: G338D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
102 |
N/A |
INTRINSIC |
|
Pfam:Biopterin_H
|
150 |
480 |
3.6e-177 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
probably benign |
Het |
|
| Other mutations in Tph2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
R3710:Tph2
|
UTSW |
10 |
115,009,963 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 |
|
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'- TGGTAGCTAATAAACCTGGAGTTC -3'
(R):5'- GTGCATTTACATTTCAGGCATGAC -3'
Sequencing Primer
(F):5'- TTTGCCAAACAAGAACAAAGTTAGG -3'
(R):5'- CATTTCAGGCATGACTAATGGTAATC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation