Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Htr2b'

256075

Institutional Source

Beutler Lab

Gene Symbol

Htr2b

Ensembl Gene

ENSMUSG00000026228

Gene Name

5-hydroxytryptamine (serotonin) receptor 2B

Synonyms

5-HT2B

MMRRC Submission

040515-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R2938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86026748-86039692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86030177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 173 (I173F)

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: I173F

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027431
Gene: ENSMUSG00000026228
AA Change: I173F

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: I103F

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116273
Gene: ENSMUSG00000026228
AA Change: I103F

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

0.1267

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,736,653 (GRCm39)	I1775K	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Astn2	A	T	4: 65,910,550 (GRCm39)	H427Q	possibly damaging	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,805,980 (GRCm39)	L296*	probably null	Het
Cd40	G	C	2: 164,911,622 (GRCm39)	V191L	probably benign	Het
Cdc6	A	G	11: 98,801,586 (GRCm39)	I217V	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Cstl1	T	A	2: 148,592,977 (GRCm39)	I44N	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,222,900 (GRCm39)	T1000S	probably benign	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,776,167 (GRCm39)	T163A	probably benign	Het
Hmgcr	G	A	13: 96,799,576 (GRCm39)	L173F	probably damaging	Het
Ifna11	T	C	4: 88,738,530 (GRCm39)	L112P	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Macf1	T	C	4: 123,326,695 (GRCm39)	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,978,330 (GRCm39)	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,795,803 (GRCm39)	S1315T	probably damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Opcml	A	G	9: 27,702,682 (GRCm39)	M1V	probably null	Het
Or4d5	A	T	9: 40,012,039 (GRCm39)	I249K	probably benign	Het
Or5m3	T	C	2: 85,838,357 (GRCm39)	M79T	probably damaging	Het
Or6c66b	T	A	10: 129,376,484 (GRCm39)	F26Y	probably damaging	Het
Parm1	T	C	5: 91,742,328 (GRCm39)	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Pfkfb2	G	A	1: 130,633,147 (GRCm39)	T202I	possibly damaging	Het
Postn	T	A	3: 54,277,731 (GRCm39)	F242Y	probably damaging	Het
Prss12	A	G	3: 123,280,625 (GRCm39)	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Saraf	A	G	8: 34,635,735 (GRCm39)	N346D	probably benign	Het
Sec31b	T	C	19: 44,524,618 (GRCm39)	D93G	probably damaging	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,282,789 (GRCm39)	D449G	probably benign	Het
Slc9a3	T	C	13: 74,269,788 (GRCm39)	I52T	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,649,561 (GRCm39)	D670G	probably damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,703,630 (GRCm39)	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Zfp808	G	A	13: 62,319,032 (GRCm39)	V67M	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
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'- ACATGGGCTTACTGCTGAC -3'
(R):5'- TTGCCATTCTCTGAGCAAATG -3'

Sequencing Primer
(F):5'- ACTTAGATTTTACTGATGGCATGGC -3'
(R):5'- AACTGCCTCCATCATGC -3'

Posted On

2014-12-29