Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03144:Htr1b'

410828

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Htr1b

Ensembl Gene

ENSMUSG00000049511

Gene Name

5-hydroxytryptamine (serotonin) receptor 1B

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL03144

Quality Score

Status

Chromosome

Chromosomal Location

81510344-81515881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81513998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 203 (L203P)

Ref Sequence

ENSEMBL: ENSMUSP00000139389 (fasta)

Gene Model

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

AlphaFold

P28334

Predicted Effect

probably damaging
Transcript: ENSMUST00000051005
AA Change: L203P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511
AA Change: L203P

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

noncoding transcript
Transcript: ENSMUST00000180663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181893

Predicted Effect

probably damaging
Transcript: ENSMUST00000183482
AA Change: L203P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511
AA Change: L203P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183781

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	A	17: 24,600,938 (GRCm39)	Q451K	probably benign	Het
Acly	A	T	11: 100,405,909 (GRCm39)	D294E	possibly damaging	Het
Arid3a	C	T	10: 79,782,316 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,643,539 (GRCm39)	V1830A	probably benign	Het
Atp6v1b1	T	C	6: 83,735,333 (GRCm39)	V467A	probably benign	Het
Ccdc171	A	T	4: 83,736,327 (GRCm39)	I1233L	probably damaging	Het
Ccdc74a	C	A	16: 17,466,730 (GRCm39)	Q146K	possibly damaging	Het
Cdh26	A	G	2: 178,109,967 (GRCm39)	D420G	probably damaging	Het
Ceacam20	T	C	7: 19,705,444 (GRCm39)	V145A	possibly damaging	Het
Cmya5	C	A	13: 93,227,376 (GRCm39)	A2571S	probably damaging	Het
Cog2	T	C	8: 125,267,763 (GRCm39)	S360P	probably damaging	Het
Col26a1	G	T	5: 136,794,202 (GRCm39)	T132N	probably damaging	Het
Col6a2	T	A	10: 76,450,259 (GRCm39)	H224L	probably benign	Het
Cpm	C	T	10: 117,519,319 (GRCm39)	S409L	probably benign	Het
Dock4	G	T	12: 40,742,906 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,557,603 (GRCm39)	N391Y	possibly damaging	Het
Exosc9	G	A	3: 36,608,284 (GRCm39)	G126D	probably damaging	Het
Eya3	T	C	4: 132,420,453 (GRCm39)	S256P	probably benign	Het
Fat3	T	C	9: 16,286,541 (GRCm39)	D994G	probably damaging	Het
Fat4	A	G	3: 39,011,008 (GRCm39)	Q2036R	possibly damaging	Het
Fryl	T	C	5: 73,258,798 (GRCm39)	Q662R	probably null	Het
Gm13271	A	G	4: 88,673,636 (GRCm39)	R178G	probably benign	Het
Gpr165	T	A	X: 95,760,560 (GRCm39)	L279Q	probably damaging	Het
Kcnb2	T	C	1: 15,780,112 (GRCm39)	L328P	probably damaging	Het
Klhl26	C	T	8: 70,905,214 (GRCm39)	R198H	probably damaging	Het
Nhsl2	A	G	X: 101,123,115 (GRCm39)	R973G	possibly damaging	Het
Nmi	A	T	2: 51,842,546 (GRCm39)	F182Y	probably damaging	Het
Nop2	T	A	6: 125,114,475 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Ooep	G	T	9: 78,285,289 (GRCm39)	A109E	possibly damaging	Het
Or1j21	A	G	2: 36,684,093 (GRCm39)	T282A	probably benign	Het
Pan3	T	C	5: 147,387,591 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,467,459 (GRCm39)	N127D	probably damaging	Het
Rabgap1	G	A	2: 37,430,544 (GRCm39)	R695H	probably damaging	Het
Rxrg	G	A	1: 167,426,327 (GRCm39)	G3R	possibly damaging	Het
Slc17a3	T	C	13: 24,030,423 (GRCm39)	M178T	probably benign	Het
Slc39a8	A	G	3: 135,589,971 (GRCm39)	E287G	probably benign	Het
Slc44a5	G	T	3: 153,949,177 (GRCm39)	D217Y	possibly damaging	Het
Slc4a10	G	T	2: 62,080,810 (GRCm39)	V346L	probably benign	Het
Slc9a4	T	C	1: 40,651,362 (GRCm39)	Y547H	probably damaging	Het
St6galnac3	A	C	3: 152,911,164 (GRCm39)	Y266D	probably damaging	Het
Stard6	A	T	18: 70,609,182 (GRCm39)	Y3F	possibly damaging	Het
Stk25	C	A	1: 93,556,858 (GRCm39)	L53F	probably damaging	Het
Tep1	A	T	14: 51,081,474 (GRCm39)		probably benign	Het
Tmem151a	T	A	19: 5,135,400 (GRCm39)	M1L	probably benign	Het
Trim10	T	C	17: 37,187,740 (GRCm39)	S319P	probably damaging	Het
Trmt44	G	T	5: 35,721,766 (GRCm39)	P466T	probably benign	Het
Unc79	T	C	12: 103,008,401 (GRCm39)	I256T	probably damaging	Het
Vmn2r125	G	T	4: 156,702,314 (GRCm39)	L33F	possibly damaging	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
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
R7850:Htr1b	UTSW	9	81,514,652 (GRCm39)	splice site	probably null
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

Posted On

2016-08-02