Incidental Mutation 'IGL02434:Htr2b'
| ID |
293203 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Htr2b
|
| Ensembl Gene |
ENSMUSG00000026228 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 2B |
| Synonyms |
5-HT2B |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.528)
|
| Stock # |
IGL02434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
86026748-86039692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86038492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 38
(V38A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027431]
[ENSMUST00000027432]
[ENSMUST00000139715]
[ENSMUST00000155077]
|
| AlphaFold |
Q02152 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027431
AA Change: V38A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027431
Gene: ENSMUSG00000026228
AA Change: V38A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
63 |
394 |
5.9e-12 |
PFAM |
|
Pfam:7tm_1
|
70 |
379 |
4.5e-65 |
PFAM |
|
low complexity region
|
447 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027432
|
| SMART Domains |
Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC_rep
|
441 |
474 |
5.1e-9 |
PFAM |
|
Pfam:PC_rep
|
476 |
510 |
8.4e-8 |
PFAM |
|
Pfam:PC_rep
|
511 |
545 |
1.1e-7 |
PFAM |
|
Pfam:HEAT_2
|
599 |
693 |
3.3e-15 |
PFAM |
|
Pfam:PC_rep
|
651 |
685 |
1.1e-11 |
PFAM |
|
low complexity region
|
818 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
949 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152184
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155077
|
| SMART Domains |
Protein: ENSMUSP00000116273
Gene: ENSMUSG00000026228
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
1 |
125 |
8.2e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srx
|
1 |
128 |
1.1e-6 |
PFAM |
|
Pfam:7tm_1
|
1 |
172 |
6e-40 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a lack of cardiac trabeculae, ventricular hypoplasia due to impaired myocyte proliferation, and midgestational and neonatal lethality of variable severity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
A |
15: 72,992,930 (GRCm39) |
G525V |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,358,686 (GRCm39) |
S2P |
possibly damaging |
Het |
| Atg2b |
C |
T |
12: 105,605,466 (GRCm39) |
V339I |
probably benign |
Het |
| Btc |
T |
A |
5: 91,510,186 (GRCm39) |
I136F |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,604,492 (GRCm39) |
M850K |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,902,616 (GRCm39) |
T179S |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,752,145 (GRCm39) |
L214P |
probably benign |
Het |
| Garnl3 |
T |
A |
2: 32,944,217 (GRCm39) |
N114I |
probably damaging |
Het |
| Gm10010 |
G |
T |
6: 128,177,433 (GRCm39) |
|
noncoding transcript |
Het |
| Gstcd |
A |
G |
3: 132,701,963 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
G |
A |
6: 24,763,857 (GRCm39) |
W339* |
probably null |
Het |
| Ifnb1 |
A |
G |
4: 88,440,755 (GRCm39) |
V86A |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,466,883 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,929,075 (GRCm39) |
S794G |
probably benign |
Het |
| Kdm5c |
T |
A |
X: 151,016,558 (GRCm39) |
M1K |
probably null |
Het |
| Lct |
A |
G |
1: 128,231,527 (GRCm39) |
V774A |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Med14 |
A |
T |
X: 12,612,063 (GRCm39) |
D371E |
possibly damaging |
Het |
| Nrcam |
A |
G |
12: 44,637,026 (GRCm39) |
|
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,935,467 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,279 (GRCm39) |
M220K |
probably benign |
Het |
| Or52e18 |
A |
T |
7: 104,609,281 (GRCm39) |
Y219* |
probably null |
Het |
| Pitpnm1 |
C |
T |
19: 4,153,377 (GRCm39) |
R178W |
probably benign |
Het |
| Prb1b |
T |
A |
6: 132,289,339 (GRCm39) |
R162W |
unknown |
Het |
| Prkcg |
A |
G |
7: 3,367,406 (GRCm39) |
I324V |
probably benign |
Het |
| Prr30 |
A |
T |
14: 101,435,804 (GRCm39) |
C253S |
possibly damaging |
Het |
| Ptgis |
A |
T |
2: 167,082,262 (GRCm39) |
|
probably null |
Het |
| Rab11fip3 |
C |
T |
17: 26,287,809 (GRCm39) |
A115T |
possibly damaging |
Het |
| Reps2 |
C |
T |
X: 161,309,253 (GRCm39) |
|
probably null |
Het |
| Rev3l |
A |
G |
10: 39,698,587 (GRCm39) |
D1028G |
probably damaging |
Het |
| Rsbn1l |
T |
C |
5: 21,124,732 (GRCm39) |
R357G |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,362,859 (GRCm39) |
L587P |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,670,868 (GRCm39) |
T155I |
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,359,700 (GRCm39) |
|
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,282,892 (GRCm39) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,636,191 (GRCm39) |
S593P |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,839,910 (GRCm39) |
S314G |
probably benign |
Het |
|
| Other mutations in Htr2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03239:Htr2b
|
APN |
1 |
86,027,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03303:Htr2b
|
APN |
1 |
86,027,061 (GRCm39) |
unclassified |
probably benign |
|
|
P0035:Htr2b
|
UTSW |
1 |
86,038,452 (GRCm39) |
missense |
probably benign |
|
|
R0655:Htr2b
|
UTSW |
1 |
86,038,565 (GRCm39) |
missense |
probably benign |
|
|
R0748:Htr2b
|
UTSW |
1 |
86,038,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1311:Htr2b
|
UTSW |
1 |
86,038,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Htr2b
|
UTSW |
1 |
86,027,151 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1916:Htr2b
|
UTSW |
1 |
86,027,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Htr2b
|
UTSW |
1 |
86,030,177 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4959:Htr2b
|
UTSW |
1 |
86,027,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6501:Htr2b
|
UTSW |
1 |
86,038,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6508:Htr2b
|
UTSW |
1 |
86,030,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6841:Htr2b
|
UTSW |
1 |
86,027,615 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8247:Htr2b
|
UTSW |
1 |
86,027,817 (GRCm39) |
missense |
probably benign |
|
|
R8275:Htr2b
|
UTSW |
1 |
86,030,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Htr2b
|
UTSW |
1 |
86,027,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Htr2b
|
UTSW |
1 |
86,027,294 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9379:Htr2b
|
UTSW |
1 |
86,027,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation