Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Htr1b'

353960

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

041982-MU

Accession Numbers

Essential gene?

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

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81510344-81515881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81513563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 348 (D348G)

Ref Sequence

ENSEMBL: ENSMUSP00000139389 (fasta)

Gene Model

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

AlphaFold

P28334

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051005
AA Change: D348G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511
AA Change: D348G

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

possibly damaging
Transcript: ENSMUST00000183482
AA Change: D348G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511
AA Change: D348G

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

Meta Mutation Damage Score

0.5855

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	C	19: 43,805,321 (GRCm39)	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,217,626 (GRCm39)	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,907,706 (GRCm39)	R179*	probably null	Het
Arap2	G	T	5: 62,906,437 (GRCm39)	T194K	probably benign	Het
Atf2	C	A	2: 73,653,644 (GRCm39)	V282F	probably damaging	Het
Atosa	T	A	9: 74,920,250 (GRCm39)	W799R	probably damaging	Het
Atp1a1	T	C	3: 101,499,122 (GRCm39)	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,734,376 (GRCm39)	S258G	possibly damaging	Het
Bptf	G	T	11: 106,938,007 (GRCm39)	H2695N	probably damaging	Het
Casq2	T	C	3: 102,017,560 (GRCm39)	V80A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,887 (GRCm39)	A11V	probably benign	Het
Cdh4	A	T	2: 179,422,260 (GRCm39)	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,203,755 (GRCm39)	*191L	probably null	Het
Cfdp1	G	A	8: 112,557,523 (GRCm39)	T206I	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Clpx	A	C	9: 65,219,396 (GRCm39)	R231S	possibly damaging	Het
Copg1	T	A	6: 87,889,268 (GRCm39)	L870*	probably null	Het
Cyp4a10	A	T	4: 115,382,535 (GRCm39)	D275V	probably benign	Het
Dip2a	T	C	10: 76,132,240 (GRCm39)	T504A	probably benign	Het
Dmxl2	A	C	9: 54,353,689 (GRCm39)		probably null	Het
Dnaaf5	A	T	5: 139,163,755 (GRCm39)	I671F	probably damaging	Het
Dnah14	A	G	1: 181,584,788 (GRCm39)	D3173G	probably damaging	Het
Dock2	T	C	11: 34,244,118 (GRCm39)	Y1074C	probably damaging	Het
Dthd1	A	C	5: 63,045,530 (GRCm39)	M765L	probably benign	Het
E2f3	A	C	13: 30,095,258 (GRCm39)	C220W	probably damaging	Het
Elf3	C	T	1: 135,185,490 (GRCm39)	S8N	probably damaging	Het
F2rl1	A	T	13: 95,649,775 (GRCm39)	V369E	probably damaging	Het
Fpr-rs7	C	T	17: 20,333,690 (GRCm39)	G267R	probably benign	Het
Ggact	A	T	14: 123,129,047 (GRCm39)	L56Q	possibly damaging	Het
Gm5546	T	C	3: 104,273,824 (GRCm39)		noncoding transcript	Het
Gm8267	A	G	14: 44,955,292 (GRCm39)	V243A	probably benign	Het
Gtf2h1	A	G	7: 46,464,836 (GRCm39)	T424A	possibly damaging	Het
Gucy1b2	A	G	14: 62,660,466 (GRCm39)	V140A	possibly damaging	Het
Htatip2	T	C	7: 49,420,592 (GRCm39)	L146P	probably damaging	Het
Ifi205	T	C	1: 173,855,887 (GRCm39)	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,969,575 (GRCm39)	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,756,281 (GRCm39)	L169P	probably damaging	Het
Klf17	T	C	4: 117,617,733 (GRCm39)	D208G	probably benign	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Map4k4	G	A	1: 40,058,724 (GRCm39)	V1040I	probably damaging	Het
Mark1	A	G	1: 184,644,329 (GRCm39)	V445A	probably benign	Het
Med11	T	C	11: 70,344,022 (GRCm39)	I114T	probably benign	Het
Moxd2	A	G	6: 40,864,181 (GRCm39)	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,773,702 (GRCm39)		probably benign	Het
Mrps27	A	G	13: 99,551,323 (GRCm39)		probably null	Het
Nop58	T	C	1: 59,735,185 (GRCm39)	V75A	probably benign	Het
Or13p5	T	C	4: 118,591,852 (GRCm39)	L42P	probably damaging	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2t46	A	G	11: 58,472,255 (GRCm39)	D195G	probably damaging	Het
Or4k42	A	C	2: 111,320,089 (GRCm39)	M138R	probably benign	Het
Or7g19	A	G	9: 18,856,742 (GRCm39)	H266R	probably benign	Het
Or7g26	C	A	9: 19,230,443 (GRCm39)	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,602 (GRCm39)	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,852,690 (GRCm39)		probably benign	Het
Prkd3	G	T	17: 79,259,366 (GRCm39)	H864N	possibly damaging	Het
Ptprd	T	C	4: 76,025,570 (GRCm39)	T543A	probably benign	Het
Pum2	T	A	12: 8,797,272 (GRCm39)	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,740,243 (GRCm39)	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,701,355 (GRCm39)	L193P	probably damaging	Het
Rif1	T	C	2: 51,963,151 (GRCm39)		probably benign	Het
Rspo2	A	T	15: 42,939,300 (GRCm39)	C163*	probably null	Het
Sco1	A	G	11: 66,947,425 (GRCm39)	Y204C	probably damaging	Het
Shc2	T	C	10: 79,458,213 (GRCm39)	K490R	probably benign	Het
Siglec1	T	C	2: 130,916,356 (GRCm39)	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,763,051 (GRCm39)	V31A	probably damaging	Het
Smpd5	A	T	15: 76,179,893 (GRCm39)	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198 (GRCm38)		probably null	Het
Tdrd9	T	G	12: 112,008,123 (GRCm39)	S988A	probably benign	Het
Tiam2	T	A	17: 3,504,443 (GRCm39)	F982I	probably damaging	Het
Tmc3	G	A	7: 83,271,604 (GRCm39)	V919I	probably benign	Het
Tmed2b	A	T	9: 33,639,784 (GRCm39)		noncoding transcript	Het
Tmem200c	A	T	17: 69,147,465 (GRCm39)	D16V	probably damaging	Het
Tmem37	A	T	1: 119,995,935 (GRCm39)	D47E	probably damaging	Het
Top3a	T	A	11: 60,633,823 (GRCm39)	R733*	probably null	Het
Treh	T	C	9: 44,594,615 (GRCm39)	V8A	probably benign	Het
Trim17	A	C	11: 58,859,276 (GRCm39)		probably benign	Het
Ubash3b	T	C	9: 40,927,896 (GRCm39)	K471E	probably damaging	Het
Usp8	T	A	2: 126,571,142 (GRCm39)	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,300,708 (GRCm39)	M1L	unknown	Het
Yju2b	A	G	8: 84,990,503 (GRCm39)	I43T	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCTTCCACCCAGTAACAG -3'
(R):5'- TCAAAGTGCGAGTCTCAGACG -3'

Sequencing Primer
(F):5'- GATTTGACCTACCTGTGAAAAGACC -3'
(R):5'- TCAGACGCCCTGCTGGAAAAG -3'

Posted On

2015-10-21