Mutagenetix > Incidental Mutation

Incidental Mutation 'R2232:Htr2a'

240126

Institutional Source

Beutler Lab

Gene Symbol

Htr2a

Ensembl Gene

ENSMUSG00000034997

Gene Name

5-hydroxytryptamine (serotonin) receptor 2A

Synonyms

Htr-2, 5-HT2A receptor, Htr2

MMRRC Submission

040233-MU

Accession Numbers

Essential gene?

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

Stock #

R2232 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74878314-74944299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74882469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 152 (I152F)

Ref Sequence

ENSEMBL: ENSMUSP00000047774 (fasta)

Gene Model

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

AlphaFold

P35363

Predicted Effect

probably damaging
Transcript: ENSMUST00000036653
AA Change: I152F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047774
Gene: ENSMUSG00000034997
AA Change: I152F

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	C	5: 121,657,795 (GRCm39)	D499E	possibly damaging	Het
Adamtsl2	G	A	2: 26,993,190 (GRCm39)	G740E	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Akap9	G	A	5: 4,096,603 (GRCm39)	V2493I	probably damaging	Het
Ankra2	T	C	13: 98,407,646 (GRCm39)	F199L	probably damaging	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Asns	A	G	6: 7,689,316 (GRCm39)	I62T	possibly damaging	Het
Celf3	T	A	3: 94,387,566 (GRCm39)		probably null	Het
Cyp4f37	A	G	17: 32,853,244 (GRCm39)	T403A	probably benign	Het
Dennd2b	T	C	7: 109,156,414 (GRCm39)	D112G	probably benign	Het
Dgkd	T	A	1: 87,857,464 (GRCm39)	S725R	probably benign	Het
Dnah5	G	A	15: 28,408,563 (GRCm39)		probably null	Het
Entrep2	G	A	7: 64,408,970 (GRCm39)	H475Y	probably damaging	Het
Ergic3	A	G	2: 155,859,736 (GRCm39)	T346A	probably damaging	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Ghrhr	T	C	6: 55,362,444 (GRCm39)	F347S	probably damaging	Het
Il17re	T	C	6: 113,441,761 (GRCm39)	C219R	probably damaging	Het
Kansl2	A	G	15: 98,422,359 (GRCm39)	L403S	probably damaging	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
L1cam	T	A	X: 72,904,947 (GRCm39)	N503I	possibly damaging	Het
Lrrk2	A	G	15: 91,648,919 (GRCm39)	K1638E	probably benign	Het
Mcpt9	A	T	14: 56,265,445 (GRCm39)	C85S	probably benign	Het
Mindy3	C	A	2: 12,408,856 (GRCm39)	R73M	probably benign	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Nes	T	A	3: 87,886,238 (GRCm39)	I1499N	possibly damaging	Het
Ninl	A	G	2: 150,791,970 (GRCm39)	V851A	probably benign	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or10j7	A	G	1: 173,011,182 (GRCm39)	I273T	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pcare	A	G	17: 72,056,279 (GRCm39)	S1133P	probably benign	Het
Pdk3	G	T	X: 92,857,604 (GRCm39)	N59K	probably damaging	Het
Pigq	T	C	17: 26,151,183 (GRCm39)	H322R	probably benign	Het
Ppp3r1	G	A	11: 17,143,115 (GRCm39)	G68R	probably damaging	Het
Proz	A	G	8: 13,113,356 (GRCm39)	Y59C	probably damaging	Het
Prpf39	C	T	12: 65,090,786 (GRCm39)	R32*	probably null	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Pth2r	G	T	1: 65,375,928 (GRCm39)	W62L	probably damaging	Het
Scin	T	A	12: 40,118,930 (GRCm39)	K622I	probably damaging	Het
Serpinb6a	T	C	13: 34,109,303 (GRCm39)	K143R	probably damaging	Het
Ska1	G	T	18: 74,330,137 (GRCm39)		probably null	Het
Slc30a8	G	T	15: 52,169,960 (GRCm39)	R62S	probably benign	Het
Slc8a3	A	C	12: 81,361,994 (GRCm39)	I275S	probably damaging	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spmap2l	A	G	5: 77,207,252 (GRCm39)	I337V	possibly damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sult1c2	G	T	17: 54,138,848 (GRCm39)	T243K	probably benign	Het
Svil	T	A	18: 5,046,640 (GRCm39)	M1K	probably null	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Tnfsf14	T	C	17: 57,500,876 (GRCm39)	D65G	probably benign	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttc3	T	C	16: 94,260,831 (GRCm39)	S1439P	probably benign	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Usp20	A	G	2: 30,908,750 (GRCm39)	N777S	probably benign	Het
Zfp92	G	T	X: 72,466,358 (GRCm39)	L450F	possibly damaging	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
IGL02724:Htr2a	APN	14	74,882,502 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCAGAAACCTTCAACCCTG -3'
(R):5'- GTCCAGCTTACCTACGGATATG -3'

Sequencing Primer
(F):5'- CGTGCCATCACAGTGCAC -3'
(R):5'- GGTCCACACCGCAATGATTTTCAG -3'

Posted On

2014-10-15