Mutagenetix > Incidental Mutation

Incidental Mutation 'R2000:Htr5a'

225831

Institutional Source

Beutler Lab

Gene Symbol

Htr5a

Ensembl Gene

ENSMUSG00000039106

Gene Name

5-hydroxytryptamine (serotonin) receptor 5A

Synonyms

Htr5

MMRRC Submission

040010-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R2000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28047147-28060086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28055887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 293 (V293M)

Ref Sequence

ENSEMBL: ENSMUSP00000038884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036227]

AlphaFold

P30966

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036227
AA Change: V293M

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038884
Gene: ENSMUSG00000039106
AA Change: V293M

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
low complexity region	41	56	N/A	INTRINSIC
Pfam:7tm_1	57	338	4.1e-71	PFAM

Meta Mutation Damage Score

0.2396

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]
PHENOTYPE: The are conflicting reports about mice with homozygous null alleles regarding increased exploratory behavior and an abnormal exploratory behavior response to LSD. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf2	T	C	2: 73,693,584 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,777,508 (GRCm39)	Y186H	probably damaging	Het
Birc6	T	C	17: 74,911,614 (GRCm39)	V1528A	possibly damaging	Het
Brpf3	A	C	17: 29,040,531 (GRCm39)	E984A	probably benign	Het
Btnl9	T	C	11: 49,059,948 (GRCm39)	N600S	probably benign	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Casp8ap2	T	A	4: 32,634,874 (GRCm39)	L136H	probably damaging	Het
Cd46	A	G	1: 194,760,012 (GRCm39)	I280T	probably benign	Het
Cip2a	A	T	16: 48,835,332 (GRCm39)	Q699L	probably damaging	Het
Crebbp	A	T	16: 3,902,116 (GRCm39)	H2374Q	probably damaging	Het
Dock3	A	G	9: 106,870,160 (GRCm39)		probably benign	Het
Dph7	T	A	2: 24,861,653 (GRCm39)	D355E	probably benign	Het
Dync1li1	C	A	9: 114,542,631 (GRCm39)	F264L	probably benign	Het
Fer1l6	G	A	15: 58,474,160 (GRCm39)		probably benign	Het
Flt3	T	C	5: 147,278,048 (GRCm39)	D842G	probably damaging	Het
Fosl1	A	G	19: 5,500,383 (GRCm39)		probably benign	Het
Gabrr2	T	A	4: 33,084,400 (GRCm39)	I162N	probably damaging	Het
Gata6	T	C	18: 11,054,113 (GRCm39)	F14S	probably benign	Het
Gm15446	T	C	5: 110,090,677 (GRCm39)	S310P	possibly damaging	Het
Gmppa	A	C	1: 75,418,172 (GRCm39)	D190A	probably damaging	Het
Gpr108	C	T	17: 57,543,712 (GRCm39)	G455S	probably benign	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Gvin-ps6	G	A	7: 106,022,438 (GRCm39)	S188L	probably benign	Het
Gzf1	T	C	2: 148,526,531 (GRCm39)	I334T	probably benign	Het
Hadh	A	T	3: 131,038,888 (GRCm39)	I156K	probably benign	Het
Ice1	C	T	13: 70,750,546 (GRCm39)	V47M	possibly damaging	Het
Ifnl3	G	T	7: 28,222,354 (GRCm39)	A32S	possibly damaging	Het
Itsn2	T	A	12: 4,716,176 (GRCm39)	Y978*	probably null	Het
Kif1a	G	T	1: 92,982,051 (GRCm39)	T792N	probably damaging	Het
Lgals9	T	C	11: 78,863,996 (GRCm39)	N50D	probably benign	Het
Lrp2	A	G	2: 69,297,434 (GRCm39)	Y3176H	probably damaging	Het
Lvrn	A	T	18: 47,038,374 (GRCm39)	N976I	probably benign	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Myo1c	A	T	11: 75,561,405 (GRCm39)	M820L	probably damaging	Het
Neb	A	T	2: 52,102,982 (GRCm39)	C4222*	probably null	Het
Nkain2	T	A	10: 32,766,281 (GRCm39)		probably benign	Het
Or10g6	A	G	9: 39,933,985 (GRCm39)	I99V	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Pnma8a	T	A	7: 16,694,964 (GRCm39)	V273D	probably benign	Het
Ppp1r9b	A	G	11: 94,887,446 (GRCm39)	E486G	probably damaging	Het
Pth2	C	A	7: 44,831,146 (GRCm39)	R98S	possibly damaging	Het
Ramacl	A	T	13: 67,056,214 (GRCm39)	N69I	possibly damaging	Het
Rif1	T	A	2: 51,971,310 (GRCm39)	F263I	probably damaging	Het
Rnf213	A	T	11: 119,326,848 (GRCm39)	I1613F	probably damaging	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Rtl1	C	A	12: 109,560,321 (GRCm39)	W506L	probably damaging	Het
Slc4a4	C	T	5: 89,176,206 (GRCm39)	P59L	probably damaging	Het
Smarcad1	A	G	6: 65,050,200 (GRCm39)	E273G	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttf1	T	A	2: 28,955,197 (GRCm39)	L187Q	possibly damaging	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ufsp1	T	C	5: 137,293,166 (GRCm39)		probably null	Het
Uox	A	C	3: 146,316,154 (GRCm39)	K30Q	possibly damaging	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Wwc1	A	T	11: 35,767,374 (GRCm39)	L419Q	probably damaging	Het
Xrn1	C	T	9: 95,927,616 (GRCm39)	Q1463*	probably null	Het
Yeats2	G	A	16: 20,005,141 (GRCm39)	A393T	probably benign	Het
Zfp101	C	T	17: 33,600,491 (GRCm39)	A422T	possibly damaging	Het

Other mutations in Htr5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Htr5a	APN	5	28,047,742 (GRCm39)	missense	probably benign	0.41
IGL02164:Htr5a	APN	5	28,047,463 (GRCm39)	missense	probably damaging	1.00
IGL02552:Htr5a	APN	5	28,047,958 (GRCm39)	missense	probably benign	0.00
IGL02636:Htr5a	APN	5	28,047,658 (GRCm39)	missense	probably damaging	1.00
R1023:Htr5a	UTSW	5	28,047,996 (GRCm39)	missense	possibly damaging	0.81
R1998:Htr5a	UTSW	5	28,055,887 (GRCm39)	missense	possibly damaging	0.95
R1999:Htr5a	UTSW	5	28,055,887 (GRCm39)	missense	possibly damaging	0.95
R4134:Htr5a	UTSW	5	28,047,690 (GRCm39)	missense	probably benign	0.01
R4135:Htr5a	UTSW	5	28,047,690 (GRCm39)	missense	probably benign	0.01
R5378:Htr5a	UTSW	5	28,055,993 (GRCm39)	missense	probably damaging	1.00
R5421:Htr5a	UTSW	5	28,055,985 (GRCm39)	missense	possibly damaging	0.81
R6440:Htr5a	UTSW	5	28,055,870 (GRCm39)	missense	probably damaging	1.00
R7571:Htr5a	UTSW	5	28,047,893 (GRCm39)	nonsense	probably null
R7992:Htr5a	UTSW	5	28,055,995 (GRCm39)	missense	probably damaging	1.00
R9068:Htr5a	UTSW	5	28,055,799 (GRCm39)	missense	probably benign	0.00
R9651:Htr5a	UTSW	5	28,047,838 (GRCm39)	missense	possibly damaging	0.74
R9652:Htr5a	UTSW	5	28,047,838 (GRCm39)	missense	possibly damaging	0.74
R9653:Htr5a	UTSW	5	28,047,838 (GRCm39)	missense	possibly damaging	0.74
RF009:Htr5a	UTSW	5	28,047,859 (GRCm39)	missense	probably damaging	1.00
Z1189:Htr5a	UTSW	5	28,056,032 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGGCAAGTGTGAAGTGG -3'
(R):5'- AAGAAGGCACTCCCATGTGG -3'

Sequencing Primer
(F):5'- GCAAGTGTGAAGTGGCATATCCTTAC -3'
(R):5'- CTCATTGTTGCTTGGAGAAGAAGACC -3'

Posted On

2014-08-25