Incidental Mutation 'R0748:Htr2b'
| ID |
70210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr2b
|
| Ensembl Gene |
ENSMUSG00000026228 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 2B |
| Synonyms |
5-HT2B |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.510)
|
| Stock # |
R0748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
86026748-86039692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86038528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 26
(I26T)
|
| 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: I26T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027431
Gene: ENSMUSG00000026228
AA Change: I26T
| 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 |
|
| Meta Mutation Damage Score |
0.0759 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,874 (GRCm39) |
V718A |
probably damaging |
Het |
| Amigo1 |
A |
G |
3: 108,095,946 (GRCm39) |
S482G |
probably damaging |
Het |
| F2rl3 |
A |
G |
8: 73,489,379 (GRCm39) |
Q202R |
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,262,997 (GRCm39) |
V787A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,977 (GRCm39) |
Q290L |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,446,343 (GRCm39) |
E920G |
probably damaging |
Het |
| Gm9881 |
T |
C |
16: 90,967,313 (GRCm39) |
N137S |
unknown |
Het |
| Hps4 |
A |
G |
5: 112,522,780 (GRCm39) |
E546G |
probably damaging |
Het |
| Insr |
A |
C |
8: 3,308,841 (GRCm39) |
M65R |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,761,241 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,083 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
C |
2: 162,813,084 (GRCm39) |
|
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,558,359 (GRCm39) |
I175M |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,608,331 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,348,508 (GRCm39) |
S46P |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,034,571 (GRCm39) |
Y629N |
probably damaging |
Het |
| Or10a49 |
C |
A |
7: 108,468,357 (GRCm39) |
M1I |
probably null |
Het |
| Pcsk6 |
T |
C |
7: 65,688,716 (GRCm39) |
|
probably benign |
Het |
| Rdx |
G |
C |
9: 51,976,160 (GRCm39) |
V33L |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,364,306 (GRCm39) |
L4535P |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,164 (GRCm39) |
T66S |
probably damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,198 (GRCm39) |
D66G |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,446,714 (GRCm39) |
I2920T |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,882,580 (GRCm39) |
N351S |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,241,164 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,216,988 (GRCm39) |
S489P |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,888 (GRCm39) |
K250E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,424 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTTTCTCCAGTGCAACAGCC -3'
(R):5'- AGTCCCATCTTCGAGAGCCTGAATC -3'
Sequencing Primer
(F):5'- GCCAGAATCACAAGGATGTTCC -3'
(R):5'- AAGAAGTCACCTTGGCTGTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation