Incidental Mutation 'R6508:Htr2b'
ID |
523966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Htr2b
|
Ensembl Gene |
ENSMUSG00000026228 |
Gene Name |
5-hydroxytryptamine (serotonin) receptor 2B |
Synonyms |
5-HT2B |
MMRRC Submission |
044638-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.528)
|
Stock # |
R6508 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
86026748-86039692 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86030186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 170
(T170A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027431]
[ENSMUST00000027432]
[ENSMUST00000139715]
[ENSMUST00000155077]
|
AlphaFold |
Q02152 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027431
AA Change: T170A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027431 Gene: ENSMUSG00000026228 AA Change: T170A
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 |
possibly damaging
Transcript: ENSMUST00000155077
AA Change: T100A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116273 Gene: ENSMUSG00000026228 AA Change: T100A
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
G |
A |
4: 144,291,590 (GRCm39) |
R39* |
probably null |
Het |
Brca2 |
A |
T |
5: 150,460,058 (GRCm39) |
E444D |
possibly damaging |
Het |
Camkk2 |
G |
T |
5: 122,884,382 (GRCm39) |
N346K |
probably damaging |
Het |
Car4 |
C |
A |
11: 84,856,469 (GRCm39) |
D252E |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,958,895 (GRCm39) |
K649R |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,557,231 (GRCm39) |
Y1966H |
probably damaging |
Het |
Crppa |
C |
T |
12: 36,476,298 (GRCm39) |
A180V |
possibly damaging |
Het |
Cts6 |
T |
A |
13: 61,344,221 (GRCm39) |
H277L |
probably damaging |
Het |
Dcc |
G |
T |
18: 71,439,144 (GRCm39) |
P1246Q |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,188,774 (GRCm39) |
T1739I |
probably benign |
Het |
Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
Entpd7 |
G |
A |
19: 43,679,525 (GRCm39) |
R26H |
probably damaging |
Het |
Fanci |
A |
G |
7: 79,093,516 (GRCm39) |
K1008E |
probably damaging |
Het |
Irgm2 |
A |
G |
11: 58,110,327 (GRCm39) |
E18G |
probably benign |
Het |
Kdm1a |
A |
T |
4: 136,281,621 (GRCm39) |
V630E |
probably damaging |
Het |
Keap1 |
G |
A |
9: 21,143,010 (GRCm39) |
T501I |
possibly damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,194,325 (GRCm39) |
H424L |
unknown |
Het |
Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,363,535 (GRCm39) |
D3364V |
probably damaging |
Het |
Map3k20 |
G |
A |
2: 72,272,253 (GRCm39) |
G794S |
probably benign |
Het |
Mcat |
T |
C |
15: 83,433,452 (GRCm39) |
Q34R |
probably benign |
Het |
Mettl4 |
T |
C |
17: 95,051,373 (GRCm39) |
E148G |
probably damaging |
Het |
Mgat3 |
T |
C |
15: 80,096,225 (GRCm39) |
S351P |
possibly damaging |
Het |
Mllt1 |
A |
T |
17: 57,234,054 (GRCm39) |
I44N |
probably damaging |
Het |
Mlxipl |
G |
T |
5: 135,157,474 (GRCm39) |
A337S |
probably benign |
Het |
Naip1 |
A |
G |
13: 100,572,973 (GRCm39) |
F254L |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,944,973 (GRCm39) |
|
probably null |
Het |
Or10q1 |
C |
T |
19: 13,726,718 (GRCm39) |
P83S |
probably damaging |
Het |
Pcdh12 |
G |
A |
18: 38,414,390 (GRCm39) |
R912* |
probably null |
Het |
Pcdh17 |
A |
G |
14: 84,685,419 (GRCm39) |
N629D |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 81,959,479 (GRCm39) |
I170T |
probably damaging |
Het |
Pgr |
A |
G |
9: 8,956,290 (GRCm39) |
Y746C |
probably damaging |
Het |
Pramel29 |
A |
T |
4: 143,934,171 (GRCm39) |
L312* |
probably null |
Het |
Pum2 |
T |
C |
12: 8,798,861 (GRCm39) |
Y991H |
probably benign |
Het |
Rcc1l |
A |
T |
5: 134,198,077 (GRCm39) |
V185D |
probably damaging |
Het |
Scarb1 |
A |
T |
5: 125,381,389 (GRCm39) |
S52T |
possibly damaging |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Spata4 |
T |
C |
8: 55,053,887 (GRCm39) |
S18P |
probably benign |
Het |
Stard13 |
G |
A |
5: 150,986,754 (GRCm39) |
T134I |
probably benign |
Het |
Tbc1d32 |
C |
T |
10: 56,100,786 (GRCm39) |
C64Y |
probably damaging |
Het |
Tll1 |
T |
G |
8: 64,551,494 (GRCm39) |
I296L |
probably damaging |
Het |
Tmem229b |
T |
G |
12: 79,011,680 (GRCm39) |
T84P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,544,757 (GRCm39) |
T32782A |
possibly damaging |
Het |
Vmn1r73 |
G |
A |
7: 11,490,631 (GRCm39) |
V150I |
possibly damaging |
Het |
Vmn2r80 |
T |
A |
10: 79,030,290 (GRCm39) |
F705L |
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 |
|
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 |
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'- CTGCTGACTTAGATTTTACTGATGG -3'
(R):5'- TGAAAGTTGCCATTCTCTGAGC -3'
Sequencing Primer
(F):5'- GCATGGCTGAGAAGCTGCAC -3'
(R):5'- GTTGCCATTCTCTGAGCAAATG -3'
|
Posted On |
2018-06-22 |