Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02822:Htr4'

361072

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Htr4

Ensembl Gene

ENSMUSG00000026322

Gene Name

5 hydroxytryptamine (serotonin) receptor 4

Synonyms

5-HT4, 5-HT<4L>

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02822

Quality Score

Status

Chromosome

Chromosomal Location

62457275-62629648 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 62561255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027560]

AlphaFold

P97288

Predicted Effect

probably benign
Transcript: ENSMUST00000027560

SMART Domains

Protein: ENSMUSP00000027560
Gene: ENSMUSG00000026322

Domain	Start	End	E-Value	Type
Pfam:7tm_1	36	312	7e-68	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice exhibit attenuated feeding behavior following stress and novelty and show a hypersensitivity to seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	C	16: 88,971,683 (GRCm39)	C2R	unknown	Het
Aldh1a7	A	G	19: 20,679,630 (GRCm39)	V382A	possibly damaging	Het
Asap2	T	C	12: 21,315,911 (GRCm39)	V943A	probably damaging	Het
Bod1l	C	T	5: 41,951,688 (GRCm39)	V2908M	possibly damaging	Het
Casd1	C	T	6: 4,630,017 (GRCm39)	T471I	probably damaging	Het
Cd200l1	T	C	16: 45,262,968 (GRCm39)	Y57C	probably damaging	Het
Col20a1	T	C	2: 180,638,600 (GRCm39)	Y405H	probably damaging	Het
Elp1	A	G	4: 56,774,520 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,237,248 (GRCm39)	I117T	probably damaging	Het
Fbxw5	A	G	2: 25,393,022 (GRCm39)	N164S	probably benign	Het
Fga	A	G	3: 82,938,789 (GRCm39)	E388G	probably damaging	Het
Fgfr1	A	G	8: 26,047,818 (GRCm39)	T55A	probably benign	Het
Gdpd4	T	C	7: 97,621,131 (GRCm39)	V148A	possibly damaging	Het
Gsap	T	A	5: 21,422,442 (GRCm39)	V137D	probably damaging	Het
Hsdl2	A	G	4: 59,601,379 (GRCm39)	H117R	possibly damaging	Het
Ifitm1	T	C	7: 140,548,191 (GRCm39)	V8A	possibly damaging	Het
Kdelr1	A	G	7: 45,523,288 (GRCm39)		probably benign	Het
Klra6	G	T	6: 129,993,673 (GRCm39)	Y199*	probably null	Het
Matcap1	T	C	8: 106,011,330 (GRCm39)	Y268C	probably damaging	Het
Mmp21	C	T	7: 133,277,828 (GRCm39)	D333N	possibly damaging	Het
Mocs1	T	C	17: 49,746,597 (GRCm39)	F189S	probably damaging	Het
Myo18b	C	T	5: 112,923,211 (GRCm39)	A1849T	probably damaging	Het
Naca	C	A	10: 127,875,214 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,926,868 (GRCm39)	H778Q	possibly damaging	Het
Nlrp4c	C	T	7: 6,068,726 (GRCm39)	P209L	probably damaging	Het
Or10q1b	A	G	19: 13,683,019 (GRCm39)	D276G	probably benign	Het
Or14j1	T	C	17: 38,146,534 (GRCm39)	Y215H	possibly damaging	Het
Or4a81	A	G	2: 89,619,444 (GRCm39)	L84P	possibly damaging	Het
Osbpl9	A	G	4: 108,930,118 (GRCm39)	S258P	probably damaging	Het
Pclaf	A	G	9: 65,808,875 (GRCm39)	E108G	possibly damaging	Het
Pira13	T	A	7: 3,819,917 (GRCm39)	T549S	possibly damaging	Het
Pla2r1	C	A	2: 60,285,517 (GRCm39)	C699F	probably damaging	Het
Pnkp	A	G	7: 44,511,848 (GRCm39)	Y120C	probably damaging	Het
Psme4	T	A	11: 30,798,204 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,587,606 (GRCm39)	S720P	probably damaging	Het
Rasa1	T	C	13: 85,400,633 (GRCm39)	H301R	probably damaging	Het
Spg11	C	A	2: 121,905,015 (GRCm39)	W1316L	probably damaging	Het
Ube2t	C	T	1: 134,901,688 (GRCm39)		probably benign	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	probably benign	Het

Other mutations in Htr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01965:Htr4	APN	18	62,570,740 (GRCm39)	missense	probably damaging	1.00
IGL03240:Htr4	APN	18	62,570,692 (GRCm39)	missense	possibly damaging	0.92
P0042:Htr4	UTSW	18	62,546,748 (GRCm39)	missense	probably damaging	1.00
R0485:Htr4	UTSW	18	62,561,225 (GRCm39)	missense	probably damaging	1.00
R1137:Htr4	UTSW	18	62,570,624 (GRCm39)	missense	probably damaging	1.00
R1661:Htr4	UTSW	18	62,545,305 (GRCm39)	missense	probably damaging	0.97
R1665:Htr4	UTSW	18	62,545,305 (GRCm39)	missense	probably damaging	0.97
R1682:Htr4	UTSW	18	62,561,137 (GRCm39)	missense	possibly damaging	0.91
R1903:Htr4	UTSW	18	62,561,193 (GRCm39)	missense	probably benign	0.01
R2215:Htr4	UTSW	18	62,546,787 (GRCm39)	nonsense	probably null
R2847:Htr4	UTSW	18	62,561,197 (GRCm39)	missense	probably damaging	1.00
R2848:Htr4	UTSW	18	62,561,197 (GRCm39)	missense	probably damaging	1.00
R5764:Htr4	UTSW	18	62,570,613 (GRCm39)	missense	probably damaging	0.97
R5787:Htr4	UTSW	18	62,546,693 (GRCm39)	missense	probably damaging	0.98
R7184:Htr4	UTSW	18	62,570,498 (GRCm39)	nonsense	probably null
R7278:Htr4	UTSW	18	62,545,247 (GRCm39)	missense	probably benign	0.04
R7811:Htr4	UTSW	18	62,545,269 (GRCm39)	missense	possibly damaging	0.51
R8190:Htr4	UTSW	18	62,570,971 (GRCm39)	missense	possibly damaging	0.64
R8312:Htr4	UTSW	18	62,570,549 (GRCm39)	missense	probably damaging	1.00
R8699:Htr4	UTSW	18	62,570,763 (GRCm39)	missense	probably damaging	1.00
R8725:Htr4	UTSW	18	62,561,209 (GRCm39)	missense	probably damaging	1.00
R8727:Htr4	UTSW	18	62,561,209 (GRCm39)	missense	probably damaging	1.00
R8757:Htr4	UTSW	18	62,545,335 (GRCm39)	missense	probably damaging	1.00
R8787:Htr4	UTSW	18	62,570,853 (GRCm39)	missense	possibly damaging	0.87
Z1177:Htr4	UTSW	18	62,570,679 (GRCm39)	missense	probably benign	0.29

Posted On

2015-12-18