Mutagenetix > Incidental Mutation

Incidental Mutation 'R7850:Htr1b'

628764

Institutional Source

Beutler Lab

Gene Symbol

Htr1b

Ensembl Gene

ENSMUSG00000049511

Gene Name

5-hydroxytryptamine (serotonin) receptor 1B

Synonyms

5-HT<1B> receptor, 5-HT1B receptor, 5HT1B receptor

MMRRC Submission

045903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R7850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81510344-81515881 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 81514652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051005] [ENSMUST00000183482]

AlphaFold

P28334

Predicted Effect

probably null
Transcript: ENSMUST00000051005

SMART Domains

Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	53	188	6e-8	PFAM
Pfam:7TM_GPCR_Srsx	56	380	7.5e-12	PFAM
Pfam:7tm_1	62	365	1.8e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183482

SMART Domains

Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	53	188	5.7e-8	PFAM
Pfam:7TM_GPCR_Srsx	56	380	7.5e-12	PFAM
Pfam:7tm_1	62	365	1e-91	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit an increase in body weight, aggression, drinking behavior, and osteoblast proliferation and bone mass, and show altered spatial learning and operant conditional behavior as well as reduced anxiety-related response and startle reflex, and small testes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,869,328 (GRCm39)	D2E	probably damaging	Het
Abhd16b	G	A	2: 181,135,518 (GRCm39)	R140H	not run	Het
Acad11	G	T	9: 103,991,728 (GRCm39)	G588C	probably damaging	Het
Baz2b	C	A	2: 59,767,060 (GRCm39)	E107D	probably damaging	Het
Bcas1	A	G	2: 170,190,023 (GRCm39)	S625P	probably damaging	Het
Bdp1	T	A	13: 100,228,832 (GRCm39)	L265F	probably damaging	Het
Cacna1s	A	G	1: 135,998,786 (GRCm39)	Y227C	probably damaging	Het
Cacna2d2	G	A	9: 107,402,575 (GRCm39)	A848T	probably benign	Het
Cep135	T	C	5: 76,739,720 (GRCm39)		probably null	Het
Cyp2b9	G	T	7: 25,886,111 (GRCm39)	E93*	probably null	Het
Dcp2	C	A	18: 44,533,415 (GRCm39)	S122*	probably null	Het
Ecel1	A	G	1: 87,079,745 (GRCm39)	L456P	probably damaging	Het
Entpd8	T	C	2: 24,975,028 (GRCm39)	M453T	probably damaging	Het
Gcc2	T	A	10: 58,114,703 (GRCm39)	V1084D	probably damaging	Het
Grem1	A	G	2: 113,580,178 (GRCm39)	C108R	probably damaging	Het
Gtf2ird1	T	C	5: 134,392,069 (GRCm39)	E880G	probably benign	Het
Hacd2	T	A	16: 34,922,477 (GRCm39)	M222K	probably damaging	Het
Htt	T	G	5: 35,009,631 (GRCm39)		probably null	Het
Ifnab	T	G	4: 88,609,133 (GRCm39)	D111A	probably benign	Het
Igsf10	A	T	3: 59,227,053 (GRCm39)	L2207I	probably benign	Het
Itln1	T	C	1: 171,358,166 (GRCm39)	Y194C	probably damaging	Het
Kmt5b	T	A	19: 3,865,043 (GRCm39)	D702E	probably damaging	Het
Knop1	T	C	7: 118,449,860 (GRCm39)	E382G	unknown	Het
Lrit3	A	C	3: 129,594,452 (GRCm39)	L42V	probably damaging	Het
Mug2	A	G	6: 122,052,170 (GRCm39)	E976G	probably damaging	Het
Or5an10	T	C	19: 12,275,996 (GRCm39)	M167V	probably benign	Het
Or8g28	A	T	9: 39,169,518 (GRCm39)	I150N	possibly damaging	Het
Or8s8	G	A	15: 98,354,949 (GRCm39)	G253R	probably damaging	Het
Papln	A	T	12: 83,827,436 (GRCm39)	E758V	probably damaging	Het
Pcnx3	A	C	19: 5,728,960 (GRCm39)	F967V	possibly damaging	Het
Pcnx4	G	T	12: 72,602,842 (GRCm39)	C368F	probably benign	Het
Pi15	T	A	1: 17,673,105 (GRCm39)	Y101*	probably null	Het
Ppp1r9a	G	A	6: 4,905,894 (GRCm39)	V150M	possibly damaging	Het
Prrt4	A	T	6: 29,176,900 (GRCm39)		probably null	Het
Ptgdr	A	G	14: 45,090,828 (GRCm39)	V310A	probably benign	Het
Ric1	G	A	19: 29,572,293 (GRCm39)	S696N	probably benign	Het
Setx	T	A	2: 29,037,430 (GRCm39)	V1305D	probably damaging	Het
Slk	G	A	19: 47,610,796 (GRCm39)	R822H	probably damaging	Het
Tas2r135	T	A	6: 42,383,072 (GRCm39)	F204I	probably benign	Het
Tcaf3	A	T	6: 42,571,140 (GRCm39)		probably null	Het
Tmtc2	A	G	10: 105,409,568 (GRCm39)	Y15H	probably benign	Het
Treml2	T	C	17: 48,615,168 (GRCm39)	S218P	probably benign	Het
Tubb2a	T	C	13: 34,258,554 (GRCm39)	E412G	probably damaging	Het
Usp48	T	G	4: 137,333,060 (GRCm39)		probably null	Het
Vmn2r25	A	T	6: 123,805,431 (GRCm39)	N475K	probably damaging	Het
Zscan4-ps1	G	A	7: 10,799,735 (GRCm39)	H385Y	probably benign	Het

Other mutations in Htr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02932:Htr1b	APN	9	81,513,689 (GRCm39)	missense	probably damaging	1.00
IGL03144:Htr1b	APN	9	81,513,998 (GRCm39)	missense	probably damaging	0.96
IGL03350:Htr1b	APN	9	81,514,175 (GRCm39)	missense	probably damaging	1.00
R0395:Htr1b	UTSW	9	81,513,704 (GRCm39)	missense	probably benign	0.09
R0697:Htr1b	UTSW	9	81,513,516 (GRCm39)	missense	possibly damaging	0.77
R1569:Htr1b	UTSW	9	81,514,340 (GRCm39)	missense	probably benign	0.01
R3411:Htr1b	UTSW	9	81,514,094 (GRCm39)	missense	probably benign	0.00
R3821:Htr1b	UTSW	9	81,514,487 (GRCm39)	missense	probably benign	0.02
R4359:Htr1b	UTSW	9	81,514,404 (GRCm39)	missense	probably benign	0.12
R4487:Htr1b	UTSW	9	81,513,592 (GRCm39)	missense	probably benign	0.01
R4489:Htr1b	UTSW	9	81,513,592 (GRCm39)	missense	probably benign	0.01
R4715:Htr1b	UTSW	9	81,513,563 (GRCm39)	missense	possibly damaging	0.95
R5502:Htr1b	UTSW	9	81,513,854 (GRCm39)	missense	possibly damaging	0.82
R6393:Htr1b	UTSW	9	81,513,810 (GRCm39)	missense	probably benign	0.11
R6616:Htr1b	UTSW	9	81,514,487 (GRCm39)	missense	probably benign
R6900:Htr1b	UTSW	9	81,513,623 (GRCm39)	missense	probably damaging	1.00
R7038:Htr1b	UTSW	9	81,514,296 (GRCm39)	missense	probably benign
R7954:Htr1b	UTSW	9	81,513,998 (GRCm39)	missense	probably damaging	0.96
R8074:Htr1b	UTSW	9	81,513,582 (GRCm39)	missense	probably benign	0.01
R9098:Htr1b	UTSW	9	81,514,481 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCGATGGAGTCCTGGTAAATG -3'
(R):5'- CTTTATTCACCCGGGCGAAG -3'

Sequencing Primer
(F):5'- AGTCCTGGTAAATGTAGCCGTC -3'
(R):5'- AGCTAGCAGACGCGGCAG -3'

Posted On

2020-06-22