Mutagenetix > Incidental Mutation

Incidental Mutation 'R3430:Htr3a'

346538

Institutional Source

Beutler Lab

Gene Symbol

Htr3a

Ensembl Gene

ENSMUSG00000032269

Gene Name

5-hydroxytryptamine (serotonin) receptor 3A

Synonyms

5-HT3 receptor

MMRRC Submission

040648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3430 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

48810513-48822399 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48818688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 82 (N82S)

Ref Sequence

ENSEMBL: ENSMUSP00000003826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003826] [ENSMUST00000217289]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003826
AA Change: N82S

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003826
Gene: ENSMUSG00000032269
AA Change: N82S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	25	36	N/A	INTRINSIC
Pfam:Neur_chan_LBD	40	247	4.7e-57	PFAM
Pfam:Neur_chan_memb	254	480	1.8e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216896

Predicted Effect

probably benign
Transcript: ENSMUST00000217289
AA Change: N82S

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1142

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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 A 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 appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display a decreased lifespan, cachexia, increased blood urea nitrogen, proteinuria, kidney inflammation, and a hyperdistended and neurogenic urinary bladder. Mice homozygous for a second null mutation display reduced chemical pain persistence responses but are otherwise healthy. [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
Afap1l2	C	A	19: 56,904,238 (GRCm39)	R683L	probably damaging	Het
Ahnak	A	G	19: 8,984,322 (GRCm39)	I1869V	probably benign	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Arhgef19	T	C	4: 140,984,111 (GRCm39)	L777P	probably benign	Het
Atf7ip	A	G	6: 136,552,322 (GRCm39)		probably benign	Het
Bhmt	T	C	13: 93,763,855 (GRCm39)	E62G	probably damaging	Het
Bpifa6	A	G	2: 153,831,171 (GRCm39)	I246V	probably benign	Het
Btbd10	T	A	7: 112,951,016 (GRCm39)	R25*	probably null	Het
Ccdc88a	T	A	11: 29,398,033 (GRCm39)	D255E	probably damaging	Het
Chd7	T	C	4: 8,844,517 (GRCm39)	V1542A	probably damaging	Het
Cimip1	T	C	2: 173,370,066 (GRCm39)	Y114H	possibly damaging	Het
Col12a1	T	A	9: 79,587,593 (GRCm39)	T1183S	probably benign	Het
Col20a1	T	A	2: 180,655,078 (GRCm39)	L1145*	probably null	Het
Dchs1	A	G	7: 105,405,711 (GRCm39)	V2391A	possibly damaging	Het
Dgat2	A	G	7: 98,806,300 (GRCm39)	V299A	probably benign	Het
Dmxl2	T	A	9: 54,384,745 (GRCm39)	N94I	possibly damaging	Het
Dnah6	G	A	6: 73,098,797 (GRCm39)	S2034L	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Filip1	A	T	9: 79,760,952 (GRCm39)	M194K	probably damaging	Het
Fut1	T	C	7: 45,268,798 (GRCm39)	F196L	probably damaging	Het
Gm10323	A	C	13: 67,002,888 (GRCm39)	W17G	probably damaging	Het
Grin3a	C	A	4: 49,792,534 (GRCm39)	V400L	probably benign	Het
Il23r	A	C	6: 67,429,458 (GRCm39)	S295A	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama5	T	C	2: 179,838,110 (GRCm39)	K869E	probably benign	Het
Lce1d	A	T	3: 92,593,037 (GRCm39)		probably benign	Het
Lkaaear1	T	C	2: 181,339,324 (GRCm39)	D42G	probably benign	Het
Mapk8ip2	A	G	15: 89,341,485 (GRCm39)	E232G	possibly damaging	Het
Marf1	A	G	16: 13,958,041 (GRCm39)		probably benign	Het
Mpeg1	A	T	19: 12,440,492 (GRCm39)	H650L	probably benign	Het
Nfib	T	C	4: 82,416,532 (GRCm39)	I168V	possibly damaging	Het
Or1e29	A	T	11: 73,667,365 (GRCm39)	S263T	probably damaging	Het
Or2b7	A	T	13: 21,739,975 (GRCm39)	C72*	probably null	Het
Or4c29	C	T	2: 88,739,810 (GRCm39)	R309Q	probably benign	Het
Or4e5	A	G	14: 52,727,882 (GRCm39)	F180L	possibly damaging	Het
Or8b3b	A	T	9: 38,584,435 (GRCm39)	F102I	probably damaging	Het
Otx2	T	A	14: 48,896,254 (GRCm39)	K260M	probably damaging	Het
P2ry12	C	T	3: 59,125,448 (GRCm39)	D76N	probably damaging	Het
Parp3	A	T	9: 106,351,922 (GRCm39)	I150K	probably damaging	Het
Prex2	T	G	1: 11,220,078 (GRCm39)	I683S	possibly damaging	Het
Prss34	A	T	17: 25,518,078 (GRCm39)	K86I	probably benign	Het
Ptpn20	T	A	14: 33,336,485 (GRCm39)	V108D	possibly damaging	Het
Rlf	A	G	4: 121,007,729 (GRCm39)	L417P	probably benign	Het
Rsad2	T	C	12: 26,506,418 (GRCm39)	M1V	probably null	Het
S1pr5	A	G	9: 21,156,378 (GRCm39)	V16A	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Serpinb3b	A	T	1: 107,082,425 (GRCm39)	S280T	probably benign	Het
Sh3d21	A	G	4: 126,056,625 (GRCm39)	S66P	probably benign	Het
Sh3yl1	T	C	12: 31,009,841 (GRCm39)	S253P	probably benign	Het
Smarca2	A	G	19: 26,668,749 (GRCm39)	E916G	probably damaging	Het
Sptbn1	A	G	11: 30,169,686 (GRCm39)	I14T	possibly damaging	Het
Supt16	A	T	14: 52,412,816 (GRCm39)	M559K	probably benign	Het
Tas1r2	A	G	4: 139,396,886 (GRCm39)	T742A	probably damaging	Het
Tbc1d5	T	C	17: 51,107,156 (GRCm39)	K467E	probably damaging	Het
Tet3	A	G	6: 83,380,401 (GRCm39)	V589A	probably damaging	Het
Tmem131	A	G	1: 36,847,902 (GRCm39)		probably benign	Het
Tmtc3	A	G	10: 100,283,437 (GRCm39)	F706S	probably benign	Het
Tsku	T	C	7: 98,001,746 (GRCm39)	N195S	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r85	T	A	10: 130,254,758 (GRCm39)	H642L	probably damaging	Het
Zfc3h1	A	G	10: 115,246,428 (GRCm39)		probably benign	Het

Other mutations in Htr3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02314:Htr3a	APN	9	48,815,927 (GRCm39)	missense	probably damaging	0.99
R0238:Htr3a	UTSW	9	48,817,686 (GRCm39)	missense	probably benign	0.06
R0238:Htr3a	UTSW	9	48,817,686 (GRCm39)	missense	probably benign	0.06
R0403:Htr3a	UTSW	9	48,819,959 (GRCm39)	missense	probably damaging	0.96
R0899:Htr3a	UTSW	9	48,812,752 (GRCm39)	missense	possibly damaging	0.78
R1749:Htr3a	UTSW	9	48,812,233 (GRCm39)	missense	probably damaging	1.00
R1903:Htr3a	UTSW	9	48,817,681 (GRCm39)	missense	probably damaging	1.00
R1942:Htr3a	UTSW	9	48,819,911 (GRCm39)	missense	probably damaging	1.00
R2218:Htr3a	UTSW	9	48,819,911 (GRCm39)	missense	probably damaging	1.00
R2394:Htr3a	UTSW	9	48,817,643 (GRCm39)	missense	probably benign	0.29
R2402:Htr3a	UTSW	9	48,812,795 (GRCm39)	missense	probably damaging	1.00
R6042:Htr3a	UTSW	9	48,815,999 (GRCm39)	missense	probably damaging	0.99
R6395:Htr3a	UTSW	9	48,811,871 (GRCm39)	missense	probably benign	0.00
R6407:Htr3a	UTSW	9	48,812,355 (GRCm39)	nonsense	probably null
R7791:Htr3a	UTSW	9	48,812,875 (GRCm39)	missense	possibly damaging	0.79
R8724:Htr3a	UTSW	9	48,815,981 (GRCm39)	missense	probably damaging	0.99
R9049:Htr3a	UTSW	9	48,811,087 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGGACATTTCAGACACCTAGACC -3'
(R):5'- CCTCACTATGTATCTTGGAAGCTG -3'

Sequencing Primer
(F):5'- CAGACACCTAGACCTTGTATCTG -3'
(R):5'- GTTGTACCCATTTAACAGACCAG -3'

Posted On

2015-10-01