Incidental Mutation 'R1690:Htr3b'
| ID |
191719 |
| 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 |
039723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1690 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
48846308-48876290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48848394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 284
(M284L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008734]
|
| AlphaFold |
Q9JHJ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008734
AA Change: M284L
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000008734
Gene: ENSMUSG00000008590
AA Change: M284L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,610,950 (GRCm39) |
S263P |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,347,494 (GRCm39) |
E403G |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,615,993 (GRCm39) |
V11E |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,206 (GRCm39) |
C620R |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,739,505 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
G |
10: 92,871,304 (GRCm39) |
S639P |
possibly damaging |
Het |
| Csf2rb |
T |
C |
15: 78,232,844 (GRCm39) |
V717A |
probably benign |
Het |
| D17H6S53E |
A |
G |
17: 35,346,188 (GRCm39) |
D33G |
possibly damaging |
Het |
| Dpf2 |
C |
T |
19: 5,955,490 (GRCm39) |
R131Q |
probably damaging |
Het |
| Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgf15 |
A |
G |
7: 144,453,665 (GRCm39) |
S213G |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,355,827 (GRCm39) |
F756Y |
unknown |
Het |
| Hnrnpk |
T |
A |
13: 58,548,168 (GRCm39) |
T13S |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,901,289 (GRCm39) |
M225T |
possibly damaging |
Het |
| Lipi |
A |
G |
16: 75,338,013 (GRCm39) |
Y454H |
probably damaging |
Het |
| Lrit3 |
T |
C |
3: 129,594,394 (GRCm39) |
K61R |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,320,554 (GRCm39) |
D583G |
probably benign |
Het |
| Mettl17 |
T |
A |
14: 52,128,918 (GRCm39) |
V396D |
probably damaging |
Het |
| Nlrc4 |
G |
A |
17: 74,744,518 (GRCm39) |
R788* |
probably null |
Het |
| Or8k25 |
T |
A |
2: 86,244,298 (GRCm39) |
I33F |
probably benign |
Het |
| Pepd |
G |
A |
7: 34,730,782 (GRCm39) |
G278D |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,693 (GRCm39) |
E250G |
probably benign |
Het |
| Prkcsh |
T |
A |
9: 21,921,871 (GRCm39) |
D245E |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,317,676 (GRCm39) |
D84V |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,411,462 (GRCm39) |
T333I |
probably benign |
Het |
| Ptk2 |
T |
A |
15: 73,134,459 (GRCm39) |
I547F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,732 (GRCm39) |
S162T |
probably damaging |
Het |
| Rnf41 |
C |
A |
10: 128,271,329 (GRCm39) |
Q80K |
possibly damaging |
Het |
| Scn7a |
T |
G |
2: 66,506,287 (GRCm39) |
D1534A |
probably damaging |
Het |
| Septin12 |
A |
G |
16: 4,806,378 (GRCm39) |
V261A |
probably damaging |
Het |
| Sh2d4a |
T |
C |
8: 68,747,101 (GRCm39) |
S110P |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,272,144 (GRCm39) |
S114T |
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,952,813 (GRCm39) |
Y139C |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,777,354 (GRCm39) |
|
probably null |
Het |
| Tmem202 |
T |
A |
9: 59,426,391 (GRCm39) |
R258S |
possibly damaging |
Het |
| Ttc39b |
A |
T |
4: 83,145,414 (GRCm39) |
I604N |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,932,294 (GRCm39) |
D467G |
probably damaging |
Het |
| Zc3hc1 |
A |
G |
6: 30,390,940 (GRCm39) |
V21A |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,120,706 (GRCm39) |
I294F |
possibly damaging |
Het |
| Zfp825 |
T |
A |
13: 74,628,781 (GRCm39) |
H227L |
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 |
|
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 |
|
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'- GTGCCGCTCCTCATAGAGGAATTTG -3'
(R):5'- CTGCTTAGACTGGAAAGCTCCCTTG -3'
Sequencing Primer
(F):5'- TCAGCAAGATGGATTTGGATAAACTG -3'
(R):5'- GTTCCCTGCCAGGTAGTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation