Mutagenetix > Incidental Mutation

Incidental Mutation 'R7960:Htr3b'

650063

Institutional Source

Beutler Lab

Gene Symbol

Htr3b

Ensembl Gene

ENSMUSG00000008590

Gene Name

5-hydroxytryptamine (serotonin) receptor 3B

Synonyms

5-HT3B, 5-HT3 receptor subunit B

MMRRC Submission

046004-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48846308-48876290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48856852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 209 (S209T)

Ref Sequence

ENSEMBL: ENSMUSP00000008734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008734]

AlphaFold

Q9JHJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000008734
AA Change: S209T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000008734
Gene: ENSMUSG00000008590
AA Change: S209T

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Neur_chan_LBD	28	235	1.5e-48	PFAM
Pfam:Neur_chan_memb	242	336	2.2e-15	PFAM
transmembrane domain	412	434	N/A	INTRINSIC

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	C	7: 115,702,481 (GRCm39)	S82P	possibly damaging	Het
Ablim2	A	C	5: 36,014,493 (GRCm39)	E450A	probably benign	Het
Acacb	G	T	5: 114,368,922 (GRCm39)	M1713I	probably benign	Het
Acbd6	C	A	1: 155,562,766 (GRCm39)	Q256K	probably benign	Het
Agbl2	A	T	2: 90,621,975 (GRCm39)	N154I	probably benign	Het
Ahcyl2	A	G	6: 29,870,626 (GRCm39)	N181D	probably benign	Het
Aldh18a1	A	T	19: 40,546,264 (GRCm39)	D544E	probably benign	Het
Anapc1	A	T	2: 128,516,513 (GRCm39)	L407Q	probably damaging	Het
Arhgap26	T	A	18: 39,362,980 (GRCm39)	V34D		Het
Brd3	A	T	2: 27,342,945 (GRCm39)	S516T	probably benign	Het
Bsn	A	G	9: 107,992,747 (GRCm39)	S1002P	probably damaging	Het
C4b	G	T	17: 34,960,252 (GRCm39)		probably null	Het
Camta1	T	C	4: 151,232,990 (GRCm39)	T228A	probably benign	Het
Cct6b	T	C	11: 82,632,221 (GRCm39)	K256E	possibly damaging	Het
Cep85l	T	A	10: 53,172,403 (GRCm39)	Q552L	probably benign	Het
Col6a5	A	G	9: 105,823,049 (GRCm39)	F103L	unknown	Het
Copb2	A	G	9: 98,462,407 (GRCm39)	Q464R	possibly damaging	Het
Dlc1	G	T	8: 37,404,989 (GRCm39)	H267N	probably benign	Het
Dnajb2	T	C	1: 75,218,055 (GRCm39)	I184T		Het
Dnajc9	C	T	14: 20,438,764 (GRCm39)	E30K	possibly damaging	Het
Dock1	T	C	7: 134,678,917 (GRCm39)	L1012P	possibly damaging	Het
Dtnbp1	T	C	13: 45,106,650 (GRCm39)	K170R	probably benign	Het
F13b	T	A	1: 139,431,509 (GRCm39)	C26*	probably null	Het
Ficd	G	T	5: 113,877,020 (GRCm39)	E398D	probably benign	Het
G6pc1	G	A	11: 101,267,359 (GRCm39)	G270R	probably damaging	Het
Garin4	T	A	1: 190,895,645 (GRCm39)	T333S	probably benign	Het
Gm3604	T	C	13: 62,517,587 (GRCm39)	Y257C	probably damaging	Het
Hmcn1	T	A	1: 150,531,606 (GRCm39)	Y3221F	probably damaging	Het
Hs3st3b1	C	T	11: 63,812,694 (GRCm39)	G7D	possibly damaging	Het
Ift70a1	A	T	2: 75,811,188 (GRCm39)	D298E	probably benign	Het
Iglon5	T	A	7: 43,126,326 (GRCm39)	E192D	probably benign	Het
Inpp5f	A	G	7: 128,295,638 (GRCm39)		probably null	Het
Kif26b	T	A	1: 178,506,484 (GRCm39)	C187S	probably damaging	Het
Klhl11	A	G	11: 100,354,805 (GRCm39)	S339P	probably benign	Het
Klk14	G	A	7: 43,341,467 (GRCm39)	A40T	probably damaging	Het
Kmt2c	G	A	5: 25,520,194 (GRCm39)	T1972I	probably benign	Het
Lama2	T	C	10: 26,869,094 (GRCm39)	T2784A	probably benign	Het
Loxhd1	T	A	18: 77,472,746 (GRCm39)	F1088I	probably damaging	Het
Map2k2	G	A	10: 80,954,968 (GRCm39)	R185Q	probably benign	Het
Mbd5	G	A	2: 49,169,796 (GRCm39)		probably null	Het
Mdc1	A	T	17: 36,161,570 (GRCm39)	R828*	probably null	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Or5g25	A	G	2: 85,478,417 (GRCm39)	S83P	possibly damaging	Het
Parp4	C	A	14: 56,832,708 (GRCm39)		probably null	Het
Pbk	T	A	14: 66,046,650 (GRCm39)		probably null	Het
Phip	A	T	9: 82,775,401 (GRCm39)	D1060E	probably benign	Het
Pik3c2b	T	A	1: 133,031,587 (GRCm39)	L1509Q	probably damaging	Het
Pik3r5	T	A	11: 68,386,796 (GRCm39)	F808L	probably benign	Het
Plcl1	T	A	1: 55,736,443 (GRCm39)	S595T	possibly damaging	Het
Plxna2	AT	A	1: 194,476,172 (GRCm39)		probably null	Het
Pole	A	G	5: 110,437,727 (GRCm39)	K95R	possibly damaging	Het
Poteg	A	G	8: 27,946,888 (GRCm39)	T259A	probably benign	Het
Pramel52-ps	A	G	5: 94,531,739 (GRCm39)	M208V	probably benign	Het
Ptpn12	G	T	5: 21,260,687 (GRCm39)	P20Q	probably benign	Het
Ptpn5	T	A	7: 46,729,295 (GRCm39)	T440S	possibly damaging	Het
Ptpru	T	C	4: 131,515,820 (GRCm39)	R845G	probably benign	Het
Rasgrp2	G	T	19: 6,464,839 (GRCm39)	V596L	probably benign	Het
Rcbtb2	T	G	14: 73,399,384 (GRCm39)	V16G	probably benign	Het
Rel	T	C	11: 23,694,493 (GRCm39)	N289S	probably damaging	Het
Rpn1	T	A	6: 88,079,068 (GRCm39)	Y504N	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scaf8	G	A	17: 3,221,397 (GRCm39)	V295M	unknown	Het
Skic3	T	C	13: 76,260,318 (GRCm39)	C87R	probably benign	Het
Slc25a48	T	A	13: 56,611,411 (GRCm39)	Y173N	probably damaging	Het
Slc8a3	C	T	12: 81,263,506 (GRCm39)	S627N	probably benign	Het
Snx8	T	A	5: 140,343,848 (GRCm39)	M123L	probably benign	Het
Sri	A	T	5: 8,114,586 (GRCm39)	Q180H	probably benign	Het
Sycp2	T	A	2: 178,046,453 (GRCm39)	R4S	probably null	Het
Tcstv1a	G	A	13: 120,355,521 (GRCm39)	T37I	possibly damaging	Het
Tnnc2	A	T	2: 164,619,704 (GRCm39)	D87E	probably benign	Het
Trim7	A	T	11: 48,728,628 (GRCm39)	N92I	probably damaging	Het
Trpv6	C	T	6: 41,604,612 (GRCm39)	D97N	probably benign	Het
Ulk4	A	G	9: 121,102,022 (GRCm39)	Y19H	probably damaging	Het
Vmn2r69	C	T	7: 85,055,973 (GRCm39)	V722I	probably benign	Het
Zan	T	C	5: 137,407,865 (GRCm39)	D3643G	unknown	Het
Zan	G	A	5: 137,463,154 (GRCm39)	T675I	unknown	Het

Other mutations in Htr3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Htr3b	APN	9	48,858,934 (GRCm39)	missense	probably damaging	1.00
IGL02576:Htr3b	APN	9	48,856,804 (GRCm39)	missense	possibly damaging	0.67
space	UTSW	9	48,848,456 (GRCm39)	missense	probably damaging	1.00
stove	UTSW	9	48,847,343 (GRCm39)	splice site	probably null
thermador	UTSW	9	48,870,518 (GRCm39)	missense	possibly damaging	0.94
R0594:Htr3b	UTSW	9	48,858,931 (GRCm39)	missense	probably benign	0.09
R1158:Htr3b	UTSW	9	48,847,390 (GRCm39)	missense	possibly damaging	0.55
R1690:Htr3b	UTSW	9	48,848,394 (GRCm39)	missense	possibly damaging	0.51
R2184:Htr3b	UTSW	9	48,858,544 (GRCm39)	missense	probably damaging	1.00
R3441:Htr3b	UTSW	9	48,856,815 (GRCm39)	missense	probably benign	0.01
R3442:Htr3b	UTSW	9	48,856,815 (GRCm39)	missense	probably benign	0.01
R4334:Htr3b	UTSW	9	48,856,809 (GRCm39)	missense	probably damaging	1.00
R4906:Htr3b	UTSW	9	48,848,348 (GRCm39)	critical splice donor site	probably null
R4985:Htr3b	UTSW	9	48,847,241 (GRCm39)	missense	possibly damaging	0.95
R4992:Htr3b	UTSW	9	48,870,518 (GRCm39)	missense	possibly damaging	0.94
R5197:Htr3b	UTSW	9	48,856,815 (GRCm39)	missense	probably benign	0.01
R5238:Htr3b	UTSW	9	48,848,542 (GRCm39)	nonsense	probably null
R6086:Htr3b	UTSW	9	48,858,598 (GRCm39)	missense	probably benign	0.16
R6328:Htr3b	UTSW	9	48,858,933 (GRCm39)	missense	probably damaging	1.00
R6412:Htr3b	UTSW	9	48,857,819 (GRCm39)	missense	possibly damaging	0.94
R7140:Htr3b	UTSW	9	48,848,441 (GRCm39)	missense	possibly damaging	0.52
R7349:Htr3b	UTSW	9	48,847,319 (GRCm39)	missense	probably benign	0.05
R7596:Htr3b	UTSW	9	48,847,361 (GRCm39)	missense	probably benign	0.31
R7815:Htr3b	UTSW	9	48,856,833 (GRCm39)	missense	probably benign	0.02
R7920:Htr3b	UTSW	9	48,848,456 (GRCm39)	missense	probably damaging	1.00
R8103:Htr3b	UTSW	9	48,857,849 (GRCm39)	missense	possibly damaging	0.94
R8210:Htr3b	UTSW	9	48,847,343 (GRCm39)	splice site	probably null
R8318:Htr3b	UTSW	9	48,876,177 (GRCm39)	start gained	probably benign
R8359:Htr3b	UTSW	9	48,858,596 (GRCm39)	missense	probably damaging	0.99
R8507:Htr3b	UTSW	9	48,876,177 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGCCATCACAACATGCTG -3'
(R):5'- TAATACCAGGGGTGTGGGTC -3'

Sequencing Primer
(F):5'- CACAACATGCTGTTCTCAGGTGG -3'
(R):5'- AGGGCTAAAACTGGGAGTTG -3'

Posted On

2020-09-15