Incidental Mutation 'R3442:Htr3b'
| ID |
267422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr3b
|
| Ensembl Gene |
ENSMUSG00000008590 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 3B |
| Synonyms |
5-HT3B, 5-HT3 receptor subunit B |
| MMRRC Submission |
040660-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3442 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
48846308-48876290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48856815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 221
(D221G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008734]
|
| AlphaFold |
Q9JHJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008734
AA Change: D221G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000008734
Gene: ENSMUSG00000008590
AA Change: D221G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
28 |
235 |
1.5e-48 |
PFAM |
|
Pfam:Neur_chan_memb
|
242 |
336 |
2.2e-15 |
PFAM |
|
transmembrane domain
|
412 |
434 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,583 (GRCm39) |
Y26* |
probably null |
Het |
| Adam30 |
T |
C |
3: 98,069,886 (GRCm39) |
I573T |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cav3 |
G |
A |
6: 112,449,402 (GRCm39) |
C140Y |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cfap91 |
T |
C |
16: 38,154,168 (GRCm39) |
M126V |
probably benign |
Het |
| Dbt |
T |
A |
3: 116,341,840 (GRCm39) |
D480E |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,707,979 (GRCm39) |
C1407Y |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,339,669 (GRCm39) |
P654L |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gpx1 |
C |
G |
9: 108,216,549 (GRCm39) |
T13S |
probably benign |
Het |
| Grik3 |
C |
A |
4: 125,587,763 (GRCm39) |
L628M |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,587,764 (GRCm39) |
L628Q |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,483,125 (GRCm39) |
Y610C |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| Msmb |
A |
G |
14: 31,872,173 (GRCm39) |
N55D |
probably benign |
Het |
| Mx1 |
T |
A |
16: 97,257,431 (GRCm39) |
I109F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,667,712 (GRCm39) |
F471L |
probably damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,370 (GRCm39) |
T56A |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,529,033 (GRCm39) |
R1792G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,458,449 (GRCm39) |
L182H |
probably damaging |
Het |
| Sla |
C |
T |
15: 66,655,509 (GRCm39) |
G210D |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,565,511 (GRCm39) |
V191M |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,729,062 (GRCm39) |
M659V |
probably benign |
Het |
| Ubxn6 |
G |
T |
17: 56,376,049 (GRCm39) |
Q371K |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,956,402 (GRCm39) |
D1143E |
probably benign |
Het |
| Zfat |
C |
T |
15: 67,973,430 (GRCm39) |
A1122T |
probably damaging |
Het |
| Zfp950 |
A |
T |
19: 61,107,170 (GRCm39) |
C149* |
probably null |
Het |
|
| Other mutations in Htr3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01401:Htr3b
|
APN |
9 |
48,858,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02576:Htr3b
|
APN |
9 |
48,856,804 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
space
|
UTSW |
9 |
48,848,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
stove
|
UTSW |
9 |
48,847,343 (GRCm39) |
splice site |
probably null |
|
|
thermador
|
UTSW |
9 |
48,870,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0594:Htr3b
|
UTSW |
9 |
48,858,931 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1158:Htr3b
|
UTSW |
9 |
48,847,390 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1690:Htr3b
|
UTSW |
9 |
48,848,394 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2184:Htr3b
|
UTSW |
9 |
48,858,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3441:Htr3b
|
UTSW |
9 |
48,856,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4334:Htr3b
|
UTSW |
9 |
48,856,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Htr3b
|
UTSW |
9 |
48,848,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4985:Htr3b
|
UTSW |
9 |
48,847,241 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4992:Htr3b
|
UTSW |
9 |
48,870,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5197:Htr3b
|
UTSW |
9 |
48,856,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5238:Htr3b
|
UTSW |
9 |
48,848,542 (GRCm39) |
nonsense |
probably null |
|
|
R6086:Htr3b
|
UTSW |
9 |
48,858,598 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6328:Htr3b
|
UTSW |
9 |
48,858,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6412:Htr3b
|
UTSW |
9 |
48,857,819 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7140:Htr3b
|
UTSW |
9 |
48,848,441 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7349:Htr3b
|
UTSW |
9 |
48,847,319 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7596:Htr3b
|
UTSW |
9 |
48,847,361 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7815:Htr3b
|
UTSW |
9 |
48,856,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7920:Htr3b
|
UTSW |
9 |
48,848,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Htr3b
|
UTSW |
9 |
48,856,852 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8103:Htr3b
|
UTSW |
9 |
48,857,849 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8210:Htr3b
|
UTSW |
9 |
48,847,343 (GRCm39) |
splice site |
probably null |
|
|
R8318:Htr3b
|
UTSW |
9 |
48,876,177 (GRCm39) |
start gained |
probably benign |
|
|
R8359:Htr3b
|
UTSW |
9 |
48,858,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8507:Htr3b
|
UTSW |
9 |
48,876,177 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCTCAGATACTGGTGCAC -3'
(R):5'- TAATACCAGGGGTGTGGGTCAG -3'
Sequencing Primer
(F):5'- CTGGTGCACAGGTGAATGG -3'
(R):5'- GGCCCCATGTCTCTTCCAGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation