Mutagenetix > Incidental Mutation

Incidental Mutation 'R9756:Htr1a'

732760

Institutional Source

Beutler Lab

Gene Symbol

Htr1a

Ensembl Gene

ENSMUSG00000021721

Gene Name

5-hydroxytryptamine (serotonin) receptor 1A

Synonyms

5-HT1A receptor, Gpcr18

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105580147-105584630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105581450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 230 (V230A)

Ref Sequence

ENSEMBL: ENSMUSP00000022235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022235]

AlphaFold

Q64264

Predicted Effect

probably damaging
Transcript: ENSMUST00000022235
AA Change: V230A

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

SMART Domains

Protein: ENSMUSP00000022235
Gene: ENSMUSG00000021721
AA Change: V230A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	45	174	2.7e-5	PFAM
Pfam:7TM_GPCR_Srsx	47	236	8e-8	PFAM
Pfam:7tm_1	53	400	1.3e-88	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygotes for targeted null mutations show a common phenotype, including augmented anxious-like behavior in the elevated plus-maze, open-field, and novel object tests, reduced immobility in the forced-swim or tail-suspension test, and changes in density of 5-HTT binding in several brain regions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,421,906 (GRCm39)	Y94F	possibly damaging	Het
Abcb5	A	G	12: 118,881,873 (GRCm39)	S619P	probably damaging	Het
Adgrf5	A	G	17: 43,761,137 (GRCm39)	N944S	probably benign	Het
Ano1	T	A	7: 144,162,666 (GRCm39)	M689L	probably benign	Het
Antxr1	T	A	6: 87,217,936 (GRCm39)	H314L	probably benign	Het
Atp13a5	CA	C	16: 29,051,583 (GRCm39)		probably null	Het
Blmh	T	A	11: 76,859,509 (GRCm39)	M370K	probably damaging	Het
Cdh8	G	A	8: 99,759,976 (GRCm39)	T591M	probably damaging	Het
Cep290	G	A	10: 100,352,034 (GRCm39)	E747K	probably damaging	Het
Chd6	T	C	2: 160,802,259 (GRCm39)	S2192G	probably benign	Het
Cldn8	T	G	16: 88,359,917 (GRCm39)	T3P	probably benign	Het
Crtac1	A	G	19: 42,286,780 (GRCm39)	L421P	probably damaging	Het
Ddx59	G	T	1: 136,345,069 (GRCm39)	A247S	probably damaging	Het
Defa38	C	T	8: 21,585,943 (GRCm39)	V42I	possibly damaging	Het
Dennd5a	A	G	7: 109,496,174 (GRCm39)	V1164A	possibly damaging	Het
Dnhd1	A	T	7: 105,353,135 (GRCm39)	T2763S	probably benign	Het
Evpl	T	C	11: 116,112,077 (GRCm39)	D1871G	probably damaging	Het
Fat1	T	A	8: 45,496,974 (GRCm39)	I4153N	probably damaging	Het
Fbxl17	A	G	17: 63,367,310 (GRCm39)	Y688H	probably damaging	Het
Fntb	A	G	12: 76,966,938 (GRCm39)	E424G	probably benign	Het
Gabra4	A	G	5: 71,729,067 (GRCm39)	M571T	probably damaging	Het
Hoxb5	T	C	11: 96,194,449 (GRCm39)	Y4H	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-4	T	C	12: 114,217,448 (GRCm39)	T48A	probably damaging	Het
Il15ra	A	G	2: 11,728,259 (GRCm39)	M53V	probably benign	Het
Ipo9	A	C	1: 135,314,057 (GRCm39)	D945E	probably benign	Het
Klk1b22	A	T	7: 43,765,254 (GRCm39)		probably null	Het
Klkb1	T	C	8: 45,735,811 (GRCm39)	N184S	possibly damaging	Het
Lbhd2	G	A	12: 111,376,774 (GRCm39)	A74T	probably damaging	Het
Lpcat3	A	G	6: 124,679,967 (GRCm39)		probably null	Het
Luzp1	T	C	4: 136,270,048 (GRCm39)	I757T	probably damaging	Het
Mbd5	C	A	2: 49,169,283 (GRCm39)	P1485T	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mical2	C	T	7: 111,902,928 (GRCm39)	T133I	probably damaging	Het
Mylk	T	C	16: 34,734,387 (GRCm39)	S663P	probably damaging	Het
Or2ag13	A	T	7: 106,313,002 (GRCm39)	N295K	probably benign	Het
Or2j3	A	G	17: 38,615,971 (GRCm39)	V127A	probably benign	Het
Or4x11	A	T	2: 89,867,674 (GRCm39)	N137I	probably benign	Het
Or5ak22	T	A	2: 85,230,682 (GRCm39)	H65L	probably damaging	Het
Or5b119	G	A	19: 13,456,986 (GRCm39)	T192I	probably benign	Het
Or8b12	G	A	9: 37,658,314 (GRCm39)	D295N	possibly damaging	Het
Patj	G	T	4: 98,565,535 (GRCm39)	A1656S	probably benign	Het
Peg10	GC	GCGCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigz	G	T	16: 31,763,787 (GRCm39)	G282C	probably damaging	Het
Pomk	G	A	8: 26,472,918 (GRCm39)	T345M	possibly damaging	Het
Psap	T	C	10: 60,130,784 (GRCm39)	S205P	possibly damaging	Het
Ptpn6	A	T	6: 124,705,592 (GRCm39)	F186L	probably damaging	Het
Rnase2b	T	C	14: 51,400,302 (GRCm39)	S128P	probably damaging	Het
Rnf112	C	T	11: 61,340,667 (GRCm39)	V536I	probably damaging	Het
Rnf31	A	T	14: 55,836,582 (GRCm39)	E805D	probably damaging	Het
Rps6kc1	A	T	1: 190,604,021 (GRCm39)	D200E	probably benign	Het
Rufy2	T	C	10: 62,818,519 (GRCm39)	L25P	probably damaging	Het
Sec14l2	T	A	11: 4,053,978 (GRCm39)	K230*	probably null	Het
Senp1	A	G	15: 97,957,806 (GRCm39)	I364T	possibly damaging	Het
Sod1	T	A	16: 90,017,753 (GRCm39)	M3K	probably benign	Het
Stab2	T	C	10: 86,803,553 (GRCm39)	D332G	possibly damaging	Het
Tcf4	G	T	18: 69,790,830 (GRCm39)	E408*	probably null	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het
Tmem39a	T	C	16: 38,396,126 (GRCm39)	Y120H	probably benign	Het
Trav16	C	A	14: 53,980,886 (GRCm39)	T25K	possibly damaging	Het
Unc13c	T	A	9: 73,839,526 (GRCm39)	N442Y	probably benign	Het
Vmn2r71	A	T	7: 85,268,573 (GRCm39)	K259*	probably null	Het
Yipf1	T	C	4: 107,176,247 (GRCm39)	V47A	probably benign	Het
Zeb2	T	C	2: 44,887,414 (GRCm39)	T548A	possibly damaging	Het
Zmym4	A	G	4: 126,771,502 (GRCm39)	F1291L	probably damaging	Het

Other mutations in Htr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Htr1a	APN	13	105,581,792 (GRCm39)	missense	possibly damaging	0.88
R0578:Htr1a	UTSW	13	105,581,595 (GRCm39)	missense	probably damaging	1.00
R0919:Htr1a	UTSW	13	105,581,344 (GRCm39)	missense	probably damaging	1.00
R0962:Htr1a	UTSW	13	105,580,832 (GRCm39)	missense	probably benign	0.02
R1143:Htr1a	UTSW	13	105,581,576 (GRCm39)	missense	probably benign
R1349:Htr1a	UTSW	13	105,581,874 (GRCm39)	nonsense	probably null
R1550:Htr1a	UTSW	13	105,581,788 (GRCm39)	missense	probably benign	0.09
R2520:Htr1a	UTSW	13	105,581,881 (GRCm39)	missense	probably benign	0.43
R3794:Htr1a	UTSW	13	105,580,852 (GRCm39)	missense	possibly damaging	0.59
R6679:Htr1a	UTSW	13	105,581,936 (GRCm39)	missense	probably damaging	1.00
R6844:Htr1a	UTSW	13	105,581,455 (GRCm39)	missense	possibly damaging	0.94
R7680:Htr1a	UTSW	13	105,581,539 (GRCm39)	missense	probably benign
R8811:Htr1a	UTSW	13	105,581,101 (GRCm39)	missense	probably damaging	0.99
R9046:Htr1a	UTSW	13	105,581,816 (GRCm39)	missense	probably damaging	1.00
R9741:Htr1a	UTSW	13	105,581,861 (GRCm39)	missense	possibly damaging	0.91
Z1177:Htr1a	UTSW	13	105,581,384 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTATAGACTACGTGAACAAGAGG -3'
(R):5'- ACTCGATGCACCTCGATCAC -3'

Sequencing Primer
(F):5'- CTACGTGAACAAGAGGACGCC -3'
(R):5'- ACCTCGATCACCTCCAGGG -3'

Posted On

2022-11-14