Mutagenetix > Incidental Mutation

Incidental Mutation 'R1023:Htr5a'

94609

Institutional Source

Beutler Lab

Gene Symbol

Htr5a

Ensembl Gene

ENSMUSG00000039106

Gene Name

5-hydroxytryptamine (serotonin) receptor 5A

Synonyms

Htr5

MMRRC Submission

039125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R1023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28047147-28060086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28047996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 184 (T184S)

Ref Sequence

ENSEMBL: ENSMUSP00000038884 (fasta)

Gene Model

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

AlphaFold

P30966

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036227
AA Change: T184S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038884
Gene: ENSMUSG00000039106
AA Change: T184S

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

0.1275

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (42/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,772,632 (GRCm39)	A607V	probably damaging	Het
4930523C07Rik	A	G	1: 159,905,057 (GRCm39)		probably benign	Het
Ap3d1	A	T	10: 80,550,092 (GRCm39)	L713Q	probably damaging	Het
Baz2a	A	G	10: 127,957,676 (GRCm39)	T1010A	possibly damaging	Het
Cdh15	T	C	8: 123,591,939 (GRCm39)	I608T	probably damaging	Het
Cdkl2	A	T	5: 92,187,145 (GRCm39)	D40E	possibly damaging	Het
Col9a2	G	A	4: 120,901,207 (GRCm39)	G118R	unknown	Het
Cryge	C	A	1: 65,089,945 (GRCm39)	C79F	probably damaging	Het
Dapk1	T	C	13: 60,878,799 (GRCm39)	L596P	probably damaging	Het
Dqx1	G	A	6: 83,038,070 (GRCm39)	C486Y	probably damaging	Het
Dync2i1	T	C	12: 116,196,277 (GRCm39)	E490G	probably damaging	Het
Enam	A	G	5: 88,649,826 (GRCm39)	Q445R	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gnpat	A	T	8: 125,597,519 (GRCm39)	D27V	probably benign	Het
Lap3	C	T	5: 45,652,553 (GRCm39)	P50S	probably benign	Het
Mamdc2	A	T	19: 23,288,271 (GRCm39)	M589K	probably damaging	Het
Mast4	A	G	13: 102,872,004 (GRCm39)	S2263P	probably benign	Het
Mef2b	C	T	8: 70,618,247 (GRCm39)	P109L	possibly damaging	Het
Meltf	T	A	16: 31,703,778 (GRCm39)	F168L	probably damaging	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Nup205	T	A	6: 35,211,641 (GRCm39)	F1661I	probably damaging	Het
Or11h4b	A	T	14: 50,918,473 (GRCm39)	L206H	probably damaging	Het
Or5h19	A	T	16: 58,856,178 (GRCm39)	N307K	probably benign	Het
Plac8	A	T	5: 100,704,447 (GRCm39)	D83E	probably benign	Het
Pnpt1	T	C	11: 29,091,328 (GRCm39)		probably benign	Het
Pold2	G	T	11: 5,825,140 (GRCm39)	Q86K	probably benign	Het
Ptprt	A	G	2: 161,400,863 (GRCm39)	L1057P	probably damaging	Het
Rev3l	A	G	10: 39,708,635 (GRCm39)	H2284R	probably damaging	Het
Scart1	T	A	7: 139,804,376 (GRCm39)	C484S	possibly damaging	Het
Skint6	A	C	4: 113,095,300 (GRCm39)	S120A	probably benign	Het
Slc1a7	G	A	4: 107,864,770 (GRCm39)	V270M	probably damaging	Het
Spata2	A	G	2: 167,327,142 (GRCm39)	M85T	probably benign	Het
Taf1b	G	T	12: 24,559,558 (GRCm39)		probably benign	Het
Tert	A	G	13: 73,790,178 (GRCm39)	N844S	probably benign	Het
Thrap3	G	A	4: 126,073,882 (GRCm39)	S288L	possibly damaging	Het
Ubap2l	A	G	3: 89,955,180 (GRCm39)		probably benign	Het
Ubtf	T	C	11: 102,202,276 (GRCm39)	E197G	possibly damaging	Het
Usp20	G	T	2: 30,897,825 (GRCm39)	G216W	probably damaging	Het
Yy1	T	A	12: 108,759,457 (GRCm39)	V40E	unknown	Het
Zfp335	G	A	2: 164,734,505 (GRCm39)	H1254Y	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
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
R2000: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'- ACAGCAATAGCTCTGGACCGCTAC -3'
(R):5'- CGCTGCAAGAAAAGCCTGTGAG -3'

Sequencing Primer
(F):5'- TGGACCGCTACTGGTCAATC -3'
(R):5'- CAAGTGACGTATTTTCTAACGATCC -3'

Posted On

2014-01-05