Incidental Mutation 'IGL02576:Htr3b'
| ID |
299205 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Htr3b
|
| Ensembl Gene |
ENSMUSG00000008590 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 3B |
| Synonyms |
5-HT3B, 5-HT3 receptor subunit B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
48846308-48876290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48856804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 225
(I225V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008734]
|
| AlphaFold |
Q9JHJ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008734
AA Change: I225V
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000008734
Gene: ENSMUSG00000008590
AA Change: I225V
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,032,678 (GRCm39) |
I232M |
probably benign |
Het |
| Ace |
G |
A |
11: 105,864,937 (GRCm39) |
V537M |
probably damaging |
Het |
| Alg1 |
A |
G |
16: 5,062,393 (GRCm39) |
E425G |
possibly damaging |
Het |
| Cacng3 |
G |
A |
7: 122,271,133 (GRCm39) |
S46N |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,942,617 (GRCm39) |
S1646P |
probably damaging |
Het |
| Cimap2 |
T |
C |
4: 106,448,825 (GRCm39) |
D411G |
possibly damaging |
Het |
| Col20a1 |
C |
T |
2: 180,655,198 (GRCm39) |
Q1152* |
probably null |
Het |
| D130043K22Rik |
A |
C |
13: 25,040,853 (GRCm39) |
T92P |
possibly damaging |
Het |
| Drc3 |
T |
C |
11: 60,261,377 (GRCm39) |
M176T |
probably benign |
Het |
| Esyt3 |
T |
C |
9: 99,197,278 (GRCm39) |
R851G |
probably benign |
Het |
| Fbxo43 |
A |
G |
15: 36,152,321 (GRCm39) |
V496A |
probably benign |
Het |
| Fut4 |
T |
A |
9: 14,662,701 (GRCm39) |
M198L |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,755,953 (GRCm39) |
|
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,896,224 (GRCm39) |
K4E |
possibly damaging |
Het |
| Gm9945 |
A |
G |
11: 53,371,178 (GRCm39) |
|
probably benign |
Het |
| Hspa12a |
A |
C |
19: 58,787,842 (GRCm39) |
I660R |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,967,650 (GRCm39) |
D23G |
possibly damaging |
Het |
| Igsf5 |
A |
G |
16: 96,187,781 (GRCm39) |
I158V |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,009,331 (GRCm39) |
Y505C |
possibly damaging |
Het |
| Kif16b |
A |
G |
2: 142,704,465 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,912 (GRCm39) |
V1336A |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,762,001 (GRCm39) |
S450P |
unknown |
Het |
| Lhfpl2 |
G |
A |
13: 94,310,734 (GRCm39) |
M1I |
probably null |
Het |
| Lig4 |
A |
G |
8: 10,021,116 (GRCm39) |
I888T |
probably damaging |
Het |
| Msh4 |
G |
A |
3: 153,573,383 (GRCm39) |
T563M |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,370,781 (GRCm39) |
A3238V |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,780,879 (GRCm39) |
S1246G |
probably null |
Het |
| Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
| Pecam1 |
G |
A |
11: 106,562,600 (GRCm39) |
T599M |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,869,117 (GRCm39) |
P644S |
probably benign |
Het |
| Pkd1l1 |
A |
C |
11: 8,794,560 (GRCm39) |
F2317C |
possibly damaging |
Het |
| Prdm4 |
A |
G |
10: 85,736,801 (GRCm39) |
M613T |
possibly damaging |
Het |
| Prim2 |
A |
T |
1: 33,523,798 (GRCm39) |
I371N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,721,958 (GRCm39) |
D1316G |
probably damaging |
Het |
| Rnf19b |
C |
T |
4: 128,967,315 (GRCm39) |
R285* |
probably null |
Het |
| Secisbp2 |
A |
G |
13: 51,824,894 (GRCm39) |
N381D |
possibly damaging |
Het |
| Slc28a2 |
T |
C |
2: 122,288,652 (GRCm39) |
I586T |
probably damaging |
Het |
| Spef1 |
T |
C |
2: 131,016,562 (GRCm39) |
H11R |
possibly damaging |
Het |
| Taar4 |
T |
C |
10: 23,836,909 (GRCm39) |
L173S |
probably damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,824,703 (GRCm39) |
F200S |
possibly damaging |
Het |
| Tex16 |
T |
A |
X: 111,028,653 (GRCm39) |
L384Q |
probably benign |
Het |
| Tox2 |
A |
G |
2: 163,118,100 (GRCm39) |
Q168R |
probably damaging |
Het |
| Trim5 |
T |
A |
7: 103,927,624 (GRCm39) |
E172V |
probably damaging |
Het |
| Txndc11 |
G |
A |
16: 10,892,881 (GRCm39) |
|
probably benign |
Het |
| Vmn1r232 |
T |
A |
17: 21,134,175 (GRCm39) |
I142F |
probably benign |
Het |
| Zdhhc25 |
A |
T |
15: 88,485,472 (GRCm39) |
H269L |
probably benign |
Het |
| Znrf4 |
T |
C |
17: 56,819,199 (GRCm39) |
D36G |
probably damaging |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation