Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:Htr2a'

305088

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Htr2a

Ensembl Gene

ENSMUSG00000034997

Gene Name

5-hydroxytryptamine (serotonin) receptor 2A

Synonyms

Htr-2, 5-HT2A receptor, Htr2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

74878314-74944299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74882502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 163 (I163F)

Ref Sequence

ENSEMBL: ENSMUSP00000047774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036653]

AlphaFold

P35363

Predicted Effect

probably damaging
Transcript: ENSMUST00000036653
AA Change: I163F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047774
Gene: ENSMUSG00000034997
AA Change: I163F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	81	264	1.2e-9	PFAM
Pfam:7TM_GPCR_Srx	82	289	1e-6	PFAM
Pfam:7TM_GPCR_Srsx	85	395	1.1e-16	PFAM
Pfam:7tm_1	91	380	5.9e-70	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 encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele show altered anxiety-related responses and increased vertical activity. Mice homozygous for a different knock-out allele exhibit abnormal enterocyte, Paneth cell and smooth muscle morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,676,822 (GRCm39)	T116S	possibly damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
Axin2	G	A	11: 108,833,772 (GRCm39)	G573D	possibly damaging	Het
B4galt2	A	G	4: 117,734,075 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cd55	T	A	1: 130,377,149 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Chi3l1	A	C	1: 134,116,981 (GRCm39)	E315A	probably damaging	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Ift70a2	T	C	2: 75,806,682 (GRCm39)	E610G	probably benign	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Prom2	T	A	2: 127,380,577 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,236,368 (GRCm39)	G279D	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,024,789 (GRCm39)	S469R	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	probably benign	Het

Other mutations in Htr2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Htr2a	APN	14	74,943,645 (GRCm39)	missense	possibly damaging	0.93
IGL00946:Htr2a	APN	14	74,943,582 (GRCm39)	nonsense	probably null
IGL01660:Htr2a	APN	14	74,943,194 (GRCm39)	missense	probably damaging	1.00
IGL02200:Htr2a	APN	14	74,943,605 (GRCm39)	missense	probably damaging	1.00
IGL02369:Htr2a	APN	14	74,943,722 (GRCm39)	missense	probably benign	0.17
IGL02887:Htr2a	APN	14	74,882,583 (GRCm39)	missense	probably benign	0.05
R0038:Htr2a	UTSW	14	74,943,687 (GRCm39)	missense	probably benign	0.00
R0038:Htr2a	UTSW	14	74,943,687 (GRCm39)	missense	probably benign	0.00
R0117:Htr2a	UTSW	14	74,882,533 (GRCm39)	missense	probably damaging	1.00
R0367:Htr2a	UTSW	14	74,879,649 (GRCm39)	missense	probably damaging	1.00
R0513:Htr2a	UTSW	14	74,943,764 (GRCm39)	missense	probably benign	0.00
R0729:Htr2a	UTSW	14	74,879,587 (GRCm39)	missense	probably benign
R1507:Htr2a	UTSW	14	74,943,419 (GRCm39)	missense	probably damaging	1.00
R1522:Htr2a	UTSW	14	74,943,293 (GRCm39)	nonsense	probably null
R1539:Htr2a	UTSW	14	74,882,608 (GRCm39)	missense	possibly damaging	0.66
R1735:Htr2a	UTSW	14	74,943,568 (GRCm39)	missense	probably damaging	1.00
R1747:Htr2a	UTSW	14	74,943,593 (GRCm39)	missense	probably damaging	1.00
R1854:Htr2a	UTSW	14	74,943,193 (GRCm39)	missense	probably damaging	1.00
R2232:Htr2a	UTSW	14	74,882,469 (GRCm39)	missense	probably damaging	1.00
R2348:Htr2a	UTSW	14	74,882,550 (GRCm39)	missense	probably damaging	1.00
R3154:Htr2a	UTSW	14	74,943,262 (GRCm39)	missense	probably benign	0.00
R3401:Htr2a	UTSW	14	74,882,499 (GRCm39)	missense	probably damaging	1.00
R4006:Htr2a	UTSW	14	74,879,581 (GRCm39)	missense	probably benign
R4007:Htr2a	UTSW	14	74,879,581 (GRCm39)	missense	probably benign
R4093:Htr2a	UTSW	14	74,943,789 (GRCm39)	missense	probably benign
R4094:Htr2a	UTSW	14	74,943,789 (GRCm39)	missense	probably benign
R4095:Htr2a	UTSW	14	74,943,789 (GRCm39)	missense	probably benign
R4502:Htr2a	UTSW	14	74,879,428 (GRCm39)	missense	probably benign	0.02
R4720:Htr2a	UTSW	14	74,882,499 (GRCm39)	missense	probably damaging	1.00
R4932:Htr2a	UTSW	14	74,879,462 (GRCm39)	missense	probably benign
R5651:Htr2a	UTSW	14	74,943,143 (GRCm39)	missense	probably damaging	0.98
R5935:Htr2a	UTSW	14	74,882,530 (GRCm39)	missense	probably damaging	1.00
R6175:Htr2a	UTSW	14	74,882,474 (GRCm39)	nonsense	probably null
R6937:Htr2a	UTSW	14	74,882,604 (GRCm39)	missense	probably damaging	0.98
R7138:Htr2a	UTSW	14	74,943,182 (GRCm39)	missense	probably damaging	1.00
R8888:Htr2a	UTSW	14	74,882,617 (GRCm39)	missense	possibly damaging	0.91
R9423:Htr2a	UTSW	14	74,943,516 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16