Mutagenetix > Incidental Mutation

Incidental Mutation 'P0035:Htr2b'

7827

Institutional Source

Beutler Lab

Gene Symbol

Htr2b

Ensembl Gene

ENSMUSG00000026228

Gene Name

5-hydroxytryptamine (serotonin) receptor 2B

Synonyms

5-HT2B

MMRRC Submission

038285-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

P0035 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

86026748-86039692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86038452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 51 (H51Q)

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: H51Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027431
Gene: ENSMUSG00000026228
AA Change: H51Q

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

0.0898

Coding Region Coverage

1x: 79.0%
3x: 68.4%
10x: 37.5%
20x: 15.8%

Validation Efficiency

82% (103/125)

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brd4	C	T	17: 32,431,812 (GRCm39)		probably null	Het
Bub1b	G	A	2: 118,452,666 (GRCm39)	E440K	probably damaging	Het
Cfap70	A	G	14: 20,474,539 (GRCm39)		probably benign	Het
Cryba2	A	G	1: 74,929,171 (GRCm39)	S191P	probably damaging	Het
Dsg3	A	C	18: 20,673,026 (GRCm39)	N899T	probably benign	Het
Lmod2	T	C	6: 24,597,885 (GRCm39)	S2P	probably damaging	Het
Lrrc37a	T	A	11: 103,393,958 (GRCm39)	E489V	possibly damaging	Het
Mdn1	A	T	4: 32,749,934 (GRCm39)	Q4372H	probably benign	Het
Med13l	C	T	5: 118,880,685 (GRCm39)	T1259I	probably benign	Het
Muc4	T	C	16: 32,580,622 (GRCm39)		probably benign	Het
Pcsk2	C	T	2: 143,637,871 (GRCm39)	T369I	probably damaging	Het
Pggt1b	G	C	18: 46,392,787 (GRCm39)	H121Q	probably damaging	Het
Pkhd1	T	C	1: 20,187,571 (GRCm39)	D3579G	probably benign	Het
Psd	T	C	19: 46,309,400 (GRCm39)	E520G	possibly damaging	Het
Scfd2	A	T	5: 74,385,980 (GRCm39)	M613K	possibly damaging	Het
Tbc1d32	A	C	10: 56,074,535 (GRCm39)	F226C	probably damaging	Het
Ttc8	T	C	12: 98,942,675 (GRCm39)		probably benign	Het
Zfp462	T	C	4: 55,009,086 (GRCm39)	S351P	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
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

2012-10-29