Mutagenetix > Incidental Mutation

Incidental Mutation 'R1550:Htr1a'

169868

Institutional Source

Beutler Lab

Gene Symbol

Htr1a

Ensembl Gene

ENSMUSG00000021721

Gene Name

5-hydroxytryptamine (serotonin) receptor 1A

Synonyms

5-HT1A receptor, Gpcr18

MMRRC Submission

039589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105580147-105584630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105581788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 343 (T343A)

Ref Sequence

ENSEMBL: ENSMUSP00000022235 (fasta)

Gene Model

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

AlphaFold

Q64264

Predicted Effect

probably benign
Transcript: ENSMUST00000022235
AA Change: T343A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022235
Gene: ENSMUSG00000021721
AA Change: T343A

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: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,654,668 (GRCm39)	V551A	probably benign	Het
Acss1	A	T	2: 150,484,715 (GRCm39)	L176Q	probably damaging	Het
Aldh7a1	A	G	18: 56,683,454 (GRCm39)	I117T	possibly damaging	Het
Arf5	C	T	6: 28,426,152 (GRCm39)	R180C	probably damaging	Het
Arhgap21	A	T	2: 20,886,576 (GRCm39)	Y39*	probably null	Het
Arrdc1	A	G	2: 24,816,351 (GRCm39)	L206P	probably damaging	Het
Cby3	A	T	11: 50,250,313 (GRCm39)	Y173F	probably damaging	Het
Cdh18	T	A	15: 23,436,634 (GRCm39)	C497S	probably damaging	Het
Cyp11b2	T	C	15: 74,725,442 (GRCm39)	I226V	probably benign	Het
Ddit4l	T	A	3: 137,330,036 (GRCm39)		probably null	Het
Ddx11	C	T	17: 66,445,215 (GRCm39)	T405I	probably benign	Het
Dhx40	A	T	11: 86,667,565 (GRCm39)		probably null	Het
Dlgap2	A	G	8: 14,872,499 (GRCm39)	D659G	probably damaging	Het
Eef2	A	G	10: 81,016,681 (GRCm39)	E586G	probably benign	Het
Fam161a	A	G	11: 22,970,470 (GRCm39)	Q216R	possibly damaging	Het
Fbxw24	G	T	9: 109,436,112 (GRCm39)	R307S	probably benign	Het
Gbp2b	G	T	3: 142,312,591 (GRCm39)	A325S	probably damaging	Het
Gli1	A	T	10: 127,174,385 (GRCm39)	F2Y	probably damaging	Het
Gnl2	T	C	4: 124,938,027 (GRCm39)	V269A	probably damaging	Het
Grin1	A	G	2: 25,195,143 (GRCm39)	V292A	probably benign	Het
Heg1	T	A	16: 33,555,923 (GRCm39)	V1001E	probably damaging	Het
Herc2	T	A	7: 55,785,406 (GRCm39)	I1552N	probably damaging	Het
Itk	G	T	11: 46,280,153 (GRCm39)	R29S	probably damaging	Het
Ivns1abp	G	T	1: 151,237,242 (GRCm39)	G469C	probably damaging	Het
Jph3	A	T	8: 122,511,598 (GRCm39)	N529Y	possibly damaging	Het
Kdm2b	A	G	5: 123,019,120 (GRCm39)	L829P	probably damaging	Het
Kprp	T	A	3: 92,732,033 (GRCm39)	Y339F	probably damaging	Het
Lrp2	A	G	2: 69,333,005 (GRCm39)	V1504A	possibly damaging	Het
Lypd6b	A	G	2: 49,833,615 (GRCm39)	D85G	probably damaging	Het
Mansc4	T	C	6: 146,977,136 (GRCm39)	Y160C	probably damaging	Het
Mgll	C	A	6: 88,790,871 (GRCm39)	H164N	probably benign	Het
Mtmr4	A	T	11: 87,504,342 (GRCm39)	D1097V	probably damaging	Het
Nfasc	T	C	1: 132,536,241 (GRCm39)	K571E	probably damaging	Het
Nfat5	A	T	8: 108,097,205 (GRCm39)	N1527Y	probably damaging	Het
Nlgn1	A	G	3: 25,966,808 (GRCm39)	L215P	probably damaging	Het
Or6b9	T	A	7: 106,555,235 (GRCm39)	I303L	probably benign	Het
Pde4dip	T	C	3: 97,627,020 (GRCm39)	S1173G	probably damaging	Het
Prrt3	A	T	6: 113,472,468 (GRCm39)	V568E	probably damaging	Het
Ptpra	G	A	2: 130,383,313 (GRCm39)	R503Q	possibly damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rnf7l	A	G	10: 63,257,427 (GRCm39)	L31P	probably damaging	Het
Sema5a	G	A	15: 32,618,995 (GRCm39)	A508T	probably benign	Het
Serpinb11	T	C	1: 107,307,418 (GRCm39)	I283T	possibly damaging	Het
Setbp1	A	T	18: 78,901,807 (GRCm39)	L620Q	probably damaging	Het
Sipa1l3	A	T	7: 29,082,628 (GRCm39)	C756S	probably benign	Het
Sirpa	A	T	2: 129,471,961 (GRCm39)	I463F	probably damaging	Het
Slc13a2	G	T	11: 78,293,990 (GRCm39)	N257K	probably damaging	Het
Slc4a5	C	A	6: 83,248,039 (GRCm39)	T530N	probably damaging	Het
Stab2	A	T	10: 86,714,790 (GRCm39)	F125L	probably benign	Het
Tet2	G	T	3: 133,175,280 (GRCm39)	Q1356K	probably benign	Het
Tet3	A	T	6: 83,363,010 (GRCm39)	S856T	probably damaging	Het
Tg	C	T	15: 66,565,279 (GRCm39)	T1207I	possibly damaging	Het
Tkt	A	G	14: 30,287,525 (GRCm39)	Y173C	probably damaging	Het
Tlr6	T	A	5: 65,110,754 (GRCm39)	I718F	probably damaging	Het
Tnfrsf11b	A	G	15: 54,117,454 (GRCm39)	V267A	possibly damaging	Het
Ubqln3	T	A	7: 103,790,753 (GRCm39)	N446Y	probably damaging	Het
Vmn2r118	C	T	17: 55,915,083 (GRCm39)	C521Y	probably damaging	Het
Vps16	A	G	2: 130,282,260 (GRCm39)	D394G	probably benign	Het
Zfp236	A	T	18: 82,692,549 (GRCm39)	M142K	possibly damaging	Het
Zfp780b	T	C	7: 27,664,282 (GRCm39)	D91G	probably benign	Het
Zfp97	T	A	17: 17,365,468 (GRCm39)	Y322*	probably null	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
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
R9756:Htr1a	UTSW	13	105,581,450 (GRCm39)	missense	probably damaging	1.00
Z1177:Htr1a	UTSW	13	105,581,384 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAGAAGAGCCTGAATGGTCAGC -3'
(R):5'- GCGGCAGAACTTGCACTTGATG -3'

Sequencing Primer
(F):5'- CCTGAATGGTCAGCCAGGTAG -3'
(R):5'- CAGAACTTGCACTTGATGATCTTC -3'

Posted On

2014-04-13