Incidental Mutation 'IGL03239:Htr2b'
| ID |
414196 |
| 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 # |
IGL03239
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
86026748-86039692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86027414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 364
(F364S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027431]
[ENSMUST00000027432]
[ENSMUST00000139715]
[ENSMUST00000155077]
|
| AlphaFold |
Q02152 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027431
AA Change: F364S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027431
Gene: ENSMUSG00000026228
AA Change: F364S
| 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 |
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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,381,835 (GRCm39) |
Y309C |
probably damaging |
Het |
| Arvcf |
G |
T |
16: 18,214,932 (GRCm39) |
V44L |
probably damaging |
Het |
| Catsperg2 |
T |
G |
7: 29,397,141 (GRCm39) |
S1121R |
probably benign |
Het |
| Ccdc190 |
G |
T |
1: 169,761,549 (GRCm39) |
R217L |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,465,005 (GRCm39) |
P619S |
possibly damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,655,796 (GRCm39) |
W498R |
probably damaging |
Het |
| Dgka |
A |
G |
10: 128,557,254 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,525,589 (GRCm39) |
D1471G |
unknown |
Het |
| Kcnv1 |
A |
G |
15: 44,972,886 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,390,233 (GRCm39) |
T1731A |
probably benign |
Het |
| Mylip |
A |
G |
13: 45,560,101 (GRCm39) |
E179G |
possibly damaging |
Het |
| Olfm3 |
A |
G |
3: 114,916,243 (GRCm39) |
R392G |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,667 (GRCm39) |
D266E |
probably benign |
Het |
| Pcdhb13 |
C |
A |
18: 37,575,888 (GRCm39) |
L89M |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,034 (GRCm39) |
Y378C |
probably damaging |
Het |
| Prdm5 |
T |
G |
6: 65,863,062 (GRCm39) |
|
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 184,982,091 (GRCm39) |
D381G |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,130,138 (GRCm39) |
N434D |
probably benign |
Het |
| Usp17la |
C |
T |
7: 104,509,827 (GRCm39) |
T144I |
possibly damaging |
Het |
| Usp35 |
T |
C |
7: 96,970,799 (GRCm39) |
T336A |
possibly damaging |
Het |
|
| Other mutations in Htr2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02434:Htr2b
|
APN |
1 |
86,038,492 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation