Incidental Mutation 'R3441:Htr3b'
| ID |
267388 |
| 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 |
040659-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3441 (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: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (34/35) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,170,759 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
A |
G |
19: 5,620,011 (GRCm39) |
H477R |
probably benign |
Het |
| Asz1 |
A |
C |
6: 18,108,405 (GRCm39) |
S68A |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,727,292 (GRCm39) |
K413E |
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 |
| Clrn3 |
A |
C |
7: 135,115,854 (GRCm39) |
Y165* |
probably null |
Het |
| Cp |
A |
T |
3: 20,029,121 (GRCm39) |
M533L |
probably benign |
Het |
| Cyba |
C |
T |
8: 123,151,803 (GRCm39) |
W103* |
probably null |
Het |
| Epha4 |
G |
T |
1: 77,403,333 (GRCm39) |
N95K |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,817,071 (GRCm39) |
N4268S |
probably benign |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| Hyal6 |
C |
T |
6: 24,734,592 (GRCm39) |
A175V |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,964,575 (GRCm39) |
D1334N |
possibly damaging |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,713 (GRCm39) |
T138A |
probably damaging |
Het |
| Mrc2 |
A |
T |
11: 105,238,542 (GRCm39) |
T1230S |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,257,431 (GRCm39) |
I109F |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,789 (GRCm39) |
F1947S |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,162 (GRCm39) |
I44V |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,746 (GRCm39) |
M136L |
probably benign |
Het |
| Plxnc1 |
G |
A |
10: 94,706,872 (GRCm39) |
T555I |
probably benign |
Het |
| Rab21 |
CCCGCCGCCGCCGCCGCC |
CCCGCCGCCGCCGCC |
10: 115,151,214 (GRCm39) |
|
probably benign |
Het |
| Rag2 |
T |
A |
2: 101,460,645 (GRCm39) |
F318L |
probably damaging |
Het |
| Scgb2b24 |
G |
T |
7: 33,438,025 (GRCm39) |
F27L |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,414 (GRCm39) |
D618V |
unknown |
Het |
| Teddm1b |
A |
G |
1: 153,751,007 (GRCm39) |
E272G |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,202,723 (GRCm39) |
M88L |
probably benign |
Het |
| Tfpi2 |
A |
T |
6: 3,965,504 (GRCm39) |
Y103N |
probably benign |
Het |
| Tmem98 |
A |
G |
11: 80,705,125 (GRCm39) |
N71S |
probably damaging |
Het |
| Vmn1r181 |
A |
G |
7: 23,684,308 (GRCm39) |
I258V |
probably benign |
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 |
|
R3442: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'- GAGCTCAGATACTGGTGCAC -3'
(R):5'- TAATACCAGGGGTGTGGGTC -3'
Sequencing Primer
(F):5'- CTGGTGCACAGGTGAATGG -3'
(R):5'- GGCCCCATGTCTCTTCCAGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation