Mutagenetix > Incidental Mutation

Incidental Mutation 'R4135:Htr5a'

314840

Institutional Source

Beutler Lab

Gene Symbol

Htr5a

Ensembl Gene

ENSMUSG00000039106

Gene Name

5-hydroxytryptamine (serotonin) receptor 5A

Synonyms

Htr5

MMRRC Submission

040995-MU

Accession Numbers

Essential gene?

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

Stock #

R4135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28047147-28060086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28047690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 82 (M82V)

Ref Sequence

ENSEMBL: ENSMUSP00000038884 (fasta)

Gene Model

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

AlphaFold

P30966

Predicted Effect

probably benign
Transcript: ENSMUST00000036227
AA Change: M82V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000038884
Gene: ENSMUSG00000039106
AA Change: M82V

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

0.2139

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,905,092 (GRCm39)		probably benign	Het
Bak1	T	A	17: 27,240,244 (GRCm39)	T148S	possibly damaging	Het
Cdc25a	C	A	9: 109,710,585 (GRCm39)	H157Q	possibly damaging	Het
Chst5	T	C	8: 112,616,816 (GRCm39)	Y268C	probably damaging	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Ctsr	T	C	13: 61,309,084 (GRCm39)	T224A	probably benign	Het
Cux1	T	C	5: 136,336,750 (GRCm39)	K921E	probably damaging	Het
Dcaf12l1	T	C	X: 43,878,330 (GRCm39)	N156S	probably damaging	Het
Dennd2d	T	A	3: 106,389,977 (GRCm39)	D2E	probably benign	Het
Dock2	T	C	11: 34,605,328 (GRCm39)	K264E	possibly damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Gabrb3	G	T	7: 57,241,036 (GRCm39)	A5S	probably benign	Het
Gcnt2	T	A	13: 41,041,283 (GRCm39)	N147K	probably damaging	Het
Gm6987	T	A	X: 93,068,216 (GRCm39)		noncoding transcript	Het
Hbp1	A	T	12: 31,984,421 (GRCm39)	L262Q	probably damaging	Het
Hsd11b2	T	C	8: 106,249,798 (GRCm39)	V303A	probably benign	Het
Mcc	T	C	18: 44,857,707 (GRCm39)	D136G	probably benign	Het
Mrpl32	C	T	13: 14,787,564 (GRCm39)	V14M	probably damaging	Het
Msl1	A	G	11: 98,687,126 (GRCm39)	D157G	possibly damaging	Het
Mthfd1	G	A	12: 76,329,648 (GRCm39)		probably null	Het
Nkx6-1	T	A	5: 101,807,371 (GRCm39)	D337V	probably damaging	Het
Nlrp5	T	C	7: 23,117,823 (GRCm39)	W516R	possibly damaging	Het
Or2ag1	A	G	7: 106,313,210 (GRCm39)	L226P	probably damaging	Het
Or2l13b	T	A	16: 19,349,452 (GRCm39)	I73F	possibly damaging	Het
Or2y3	A	G	17: 38,393,248 (GRCm39)	V207A	possibly damaging	Het
Or4l1	T	C	14: 50,166,272 (GRCm39)	H243R	probably damaging	Het
Or5af1	C	A	11: 58,722,820 (GRCm39)	T280K	probably damaging	Het
Pate5	A	G	9: 35,750,724 (GRCm39)	S33P	possibly damaging	Het
Pold3	T	A	7: 99,749,854 (GRCm39)	R104*	probably null	Het
Rapsn	A	T	2: 90,867,162 (GRCm39)	N155Y	probably damaging	Het
Rorc	C	A	3: 94,296,826 (GRCm39)	Q269K	probably damaging	Het
Rreb1	A	T	13: 38,131,099 (GRCm39)	N1418Y	probably damaging	Het
Rusc2	G	A	4: 43,425,563 (GRCm39)	D1223N	possibly damaging	Het
Sema6d	T	C	2: 124,506,040 (GRCm39)	I616T	probably damaging	Het
Ttc6	T	A	12: 57,679,581 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,338,810 (GRCm39)	Y58F	probably damaging	Het
Vmn2r129	T	G	4: 156,691,085 (GRCm39)		noncoding transcript	Het
Vwa5b1	A	T	4: 138,321,641 (GRCm39)	M384K	possibly damaging	Het
Washc3	G	A	10: 88,055,142 (GRCm39)	E111K	probably benign	Het
Xirp2	A	G	2: 67,355,741 (GRCm39)	S3501G	probably benign	Het
Zfp1004	A	T	2: 150,023,788 (GRCm39)		probably benign	Het
Zfp352	C	T	4: 90,113,261 (GRCm39)	T467M	probably damaging	Het
Zfp729a	C	A	13: 67,767,925 (GRCm39)	C768F	probably damaging	Het
Zfp810	T	C	9: 22,190,369 (GRCm39)	K180E	probably 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
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
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'- TGCCTGTAAACTTGACCTCC -3'
(R):5'- GTGATTGACCAGTAGCGGTC -3'

Sequencing Primer
(F):5'- TTGGAACCTAACCGCAGCTTG -3'
(R):5'- CAGTAGCGGTCCAGAGCTATTG -3'

Posted On

2015-05-14