Mutagenetix > Incidental Mutation

Incidental Mutation 'R6393:Htr1b'

515887

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

044542-MU

Accession Numbers

Essential gene?

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

Stock #

R6393 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81510344-81515881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81513810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 266 (I266F)

Ref Sequence

ENSEMBL: ENSMUSP00000139389 (fasta)

Gene Model

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

AlphaFold

P28334

Predicted Effect

probably benign
Transcript: ENSMUST00000051005
AA Change: I266F

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511
AA Change: I266F

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 benign
Transcript: ENSMUST00000183482
AA Change: I266F

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511
AA Change: I266F

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

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.8%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,856,690 (GRCm39)	Q14R	possibly damaging	Het
Adamts12	A	G	15: 11,255,721 (GRCm39)	D430G	probably damaging	Het
Agxt2	T	C	15: 10,393,894 (GRCm39)		probably null	Het
Akirin1	T	G	4: 123,637,324 (GRCm39)	Q87P	possibly damaging	Het
Ank2	G	A	3: 126,723,406 (GRCm39)	R974C	probably damaging	Het
Arhgap23	A	G	11: 97,354,498 (GRCm39)	I804V	probably damaging	Het
Arhgef28	A	T	13: 98,130,527 (GRCm39)	L437Q	possibly damaging	Het
Atp8a2	G	T	14: 60,011,204 (GRCm39)	Y967*	probably null	Het
Calcr	A	G	6: 3,708,586 (GRCm39)	L200S	probably damaging	Het
Ccdc80	T	A	16: 44,916,828 (GRCm39)	V528D	possibly damaging	Het
Chd6	A	G	2: 160,821,407 (GRCm39)	Y1296H	probably damaging	Het
Chst13	G	A	6: 90,302,063 (GRCm39)	R28C	possibly damaging	Het
Clrn1	A	G	3: 58,753,741 (GRCm39)	F207L	probably damaging	Het
Col12a1	T	C	9: 79,562,767 (GRCm39)	T1772A	probably damaging	Het
Cubn	T	C	2: 13,360,491 (GRCm39)	T1744A	probably benign	Het
Dchs2	A	G	3: 83,037,218 (GRCm39)	E655G	probably damaging	Het
Dnajb3	T	A	1: 88,133,384 (GRCm39)	E6V	possibly damaging	Het
Dock5	G	A	14: 68,060,051 (GRCm39)	P463S	probably benign	Het
Eif4a3l1	A	G	6: 136,305,596 (GRCm39)	K19R	probably benign	Het
Fancd2	T	A	6: 113,555,374 (GRCm39)	C1128S	probably benign	Het
Fcrl5	G	A	3: 87,355,634 (GRCm39)	G449E	probably damaging	Het
Frem2	G	T	3: 53,493,061 (GRCm39)	N1818K	possibly damaging	Het
Gm21149	C	A	5: 15,678,037 (GRCm39)	V187L	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gstm7	A	G	3: 107,838,142 (GRCm39)		probably null	Het
Jakmip3	T	C	7: 138,620,900 (GRCm39)	I305T	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kifc5b	T	C	17: 27,140,816 (GRCm39)	C97R	probably benign	Het
Klhl30	A	T	1: 91,288,912 (GRCm39)	H557L	probably damaging	Het
Lama3	T	C	18: 12,612,813 (GRCm39)	V1199A	probably benign	Het
Lmbr1	A	G	5: 29,459,292 (GRCm39)	L246P	probably damaging	Het
M6pr	T	C	6: 122,292,339 (GRCm39)	L178P	possibly damaging	Het
Med17	A	G	9: 15,185,879 (GRCm39)	S212P	probably damaging	Het
Med23	T	A	10: 24,749,374 (GRCm39)	S31T	possibly damaging	Het
Morc2b	T	G	17: 33,356,750 (GRCm39)	T341P	probably damaging	Het
Mre11a	A	G	9: 14,696,805 (GRCm39)	M1V	probably null	Het
Mrpl17	T	C	7: 105,459,122 (GRCm39)	H158R	probably benign	Het
Mstn	A	G	1: 53,105,648 (GRCm39)	Q330R	probably benign	Het
Muc16	T	A	9: 18,558,695 (GRCm39)	K2533*	probably null	Het
N4bp2	T	C	5: 65,948,344 (GRCm39)	S325P	possibly damaging	Het
Nadk	A	G	4: 155,673,808 (GRCm39)	Y399C	possibly damaging	Het
Nbea	A	C	3: 55,998,540 (GRCm39)	L89R	probably damaging	Het
Ncoa1	A	G	12: 4,328,181 (GRCm39)	F775L	probably benign	Het
Ndufa11	C	A	17: 57,028,331 (GRCm39)	A70E	probably damaging	Het
Nfx1	A	G	4: 40,976,851 (GRCm39)	Y175C	possibly damaging	Het
Or10q3	A	T	19: 11,848,091 (GRCm39)	L163Q	probably damaging	Het
Or12e9	A	G	2: 87,201,909 (GRCm39)	N11S	probably damaging	Het
Pcsk6	T	C	7: 65,618,762 (GRCm39)	S443P	probably damaging	Het
Pcsk9	T	C	4: 106,304,793 (GRCm39)	D425G	probably benign	Het
Pdcd1lg2	T	A	19: 29,414,698 (GRCm39)	C42S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Rbm46	G	A	3: 82,771,262 (GRCm39)	T451M	probably benign	Het
Rcan2	T	A	17: 44,264,370 (GRCm39)	V10D	probably benign	Het
Rpl7l1	T	C	17: 47,093,548 (GRCm39)	E4G	probably benign	Het
Rptn	A	G	3: 93,304,506 (GRCm39)	E613G	probably benign	Het
Sbk2	T	C	7: 4,960,621 (GRCm39)	D183G	probably damaging	Het
Slc15a4	C	T	5: 127,693,950 (GRCm39)	A162T	probably benign	Het
Slc30a4	A	G	2: 122,527,966 (GRCm39)	W315R	probably damaging	Het
Slc39a14	G	C	14: 70,547,262 (GRCm39)	F361L	probably benign	Het
Slc6a13	T	C	6: 121,313,801 (GRCm39)	Y515H	possibly damaging	Het
Slitrk3	C	A	3: 72,957,247 (GRCm39)	K508N	possibly damaging	Het
Stard4	T	C	18: 33,338,278 (GRCm39)	D144G	probably benign	Het
Tlr9	T	C	9: 106,102,136 (GRCm39)	F476L	probably damaging	Het
Tshz1	A	T	18: 84,031,345 (GRCm39)	V1021D	probably damaging	Het
Vmn1r54	A	T	6: 90,246,304 (GRCm39)	I73F	probably benign	Het
Vmn2r19	A	C	6: 123,293,112 (GRCm39)	S385R	possibly damaging	Het
Xkr5	A	G	8: 18,998,716 (GRCm39)	L34P	probably damaging	Het
Xpo4	A	G	14: 57,875,770 (GRCm39)	V121A	probably damaging	Het
Zbtb40	T	A	4: 136,712,177 (GRCm39)	H268L	probably null	Het
Zfp865	T	C	7: 5,033,065 (GRCm39)	F350S	probably damaging	Het
Zscan4b	T	C	7: 10,634,828 (GRCm39)	I472V	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
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
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'- TAGGCATCACCAGGGAGATG -3'
(R):5'- TTGTGAACACCGACCACGTC -3'

Sequencing Primer
(F):5'- CATCACCAGGGAGATGATGAAG -3'
(R):5'- TACACGGTCTACTCCACGGTG -3'

Posted On

2018-05-04