Mutagenetix > Incidental Mutation

Incidental Mutation 'R1569:Htr1b'

177124

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

039608-MU

Accession Numbers

Essential gene?

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

Stock #

R1569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81510344-81515881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81514340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 89 (V89A)

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: V89A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511
AA Change: V89A

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: V89A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511
AA Change: V89A

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

0.1336

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

96% (72/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,427 (GRCm39)	K166*	probably null	Het
Abca2	T	A	2: 25,329,197 (GRCm39)	N1012K	probably benign	Het
Ahnak	T	C	19: 8,981,458 (GRCm39)	V914A	possibly damaging	Het
Akap1	T	A	11: 88,724,006 (GRCm39)	M833L	probably benign	Het
Atp2b1	T	A	10: 98,823,188 (GRCm39)	H249Q	probably benign	Het
Atp6v0a4	A	G	6: 38,027,560 (GRCm39)	V750A	probably damaging	Het
Car6	T	C	4: 150,285,499 (GRCm39)	Y23C	probably damaging	Het
Celsr3	A	G	9: 108,706,267 (GRCm39)	T917A	probably damaging	Het
Clmn	C	A	12: 104,747,340 (GRCm39)	D736Y	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dennd4c	G	A	4: 86,704,331 (GRCm39)	R282H	possibly damaging	Het
Dsg1b	T	A	18: 20,529,537 (GRCm39)	N327K	probably damaging	Het
Eftud2	A	T	11: 102,745,597 (GRCm39)		probably benign	Het
Esyt1	G	T	10: 128,354,863 (GRCm39)	S512R	possibly damaging	Het
Fam124b	T	C	1: 80,190,852 (GRCm39)	Y177C	possibly damaging	Het
Fbxl5	A	T	5: 43,922,803 (GRCm39)	I205K	probably damaging	Het
Fcrl1	A	G	3: 87,292,012 (GRCm39)	Y57C	probably damaging	Het
Gabpb1	A	T	2: 126,494,171 (GRCm39)	D151E	probably benign	Het
Gcc2	C	T	10: 58,105,993 (GRCm39)	L310F	probably benign	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Ibsp	A	T	5: 104,458,017 (GRCm39)	T185S	probably damaging	Het
Igfn1	T	C	1: 135,896,771 (GRCm39)	D1265G	probably benign	Het
Ints9	T	C	14: 65,217,571 (GRCm39)	Y33H	possibly damaging	Het
Kif1a	A	T	1: 92,986,532 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,087,613 (GRCm39)		probably null	Het
Lbp	A	T	2: 158,161,607 (GRCm39)	D223V	probably damaging	Het
Lck	C	A	4: 129,449,449 (GRCm39)	D283Y	probably damaging	Het
Lcmt2	A	G	2: 120,970,309 (GRCm39)	F258S	probably damaging	Het
Lsg1	G	T	16: 30,399,823 (GRCm39)		probably null	Het
Maip1	T	C	1: 57,452,554 (GRCm39)		probably benign	Het
Mark3	T	G	12: 111,600,180 (GRCm39)	I465S	probably benign	Het
Marveld2	C	T	13: 100,737,506 (GRCm39)	V128I	probably benign	Het
Mcm3ap	A	G	10: 76,319,022 (GRCm39)	H750R	possibly damaging	Het
Mdn1	A	T	4: 32,723,501 (GRCm39)	Q2479L	probably null	Het
Met	A	T	6: 17,531,503 (GRCm39)	K594*	probably null	Het
Pak2	G	T	16: 31,856,113 (GRCm39)	S241R	probably damaging	Het
Plxna4	T	C	6: 32,162,410 (GRCm39)	I1368V	possibly damaging	Het
Pparg	T	C	6: 115,416,960 (GRCm39)	I51T	probably benign	Het
Ppp1r18	A	G	17: 36,179,595 (GRCm39)	E62G	probably damaging	Het
Prkag2	T	C	5: 25,152,475 (GRCm39)	S86G	possibly damaging	Het
Rabgap1l	A	T	1: 160,529,960 (GRCm39)	I347K	probably benign	Het
Rdh1	A	T	10: 127,598,941 (GRCm39)	M141L	probably benign	Het
Rfx2	A	T	17: 57,111,326 (GRCm39)	I82N	possibly damaging	Het
Sh2b2	G	A	5: 136,260,589 (GRCm39)	A209V	possibly damaging	Het
Sh3d19	G	A	3: 86,033,951 (GRCm39)	R768H	possibly damaging	Het
Sh3rf1	C	T	8: 61,837,896 (GRCm39)	P814S	probably damaging	Het
Shbg	T	A	11: 69,508,415 (GRCm39)		probably benign	Het
Slc15a2	T	C	16: 36,576,745 (GRCm39)	T430A	probably benign	Het
Slc17a3	A	T	13: 24,039,591 (GRCm39)	I250F	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spg11	A	G	2: 121,932,187 (GRCm39)	S552P	probably damaging	Het
Srpk2	A	G	5: 23,719,024 (GRCm39)	I597T	probably damaging	Het
St6galnac1	T	G	11: 116,660,097 (GRCm39)	N72T	possibly damaging	Het
Tecpr2	T	A	12: 110,911,321 (GRCm39)		probably null	Het
Tmem208	T	A	8: 106,061,462 (GRCm39)	C163S	possibly damaging	Het
Tpte	T	C	8: 22,835,047 (GRCm39)	V401A	probably damaging	Het
Trhde	A	G	10: 114,282,093 (GRCm39)	W795R	possibly damaging	Het
Trpm3	G	A	19: 22,866,809 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,626,063 (GRCm39)	T14999S	possibly damaging	Het
Txndc2	A	T	17: 65,945,921 (GRCm39)	N85K	probably benign	Het
Yes1	A	G	5: 32,810,507 (GRCm39)	Y192C	probably damaging	Het
Zan	A	G	5: 137,427,392 (GRCm39)	V2415A	unknown	Het
Zfp410	T	A	12: 84,379,726 (GRCm39)	C311S	probably damaging	Het
Zfp51	A	T	17: 21,676,642 (GRCm39)	M38L	probably benign	Het
Zfp560	A	T	9: 20,260,011 (GRCm39)	C284S	possibly damaging	Het
Zfp808	C	T	13: 62,320,714 (GRCm39)	R648*	probably null	Het
Zfp976	G	T	7: 42,262,806 (GRCm39)	H344N	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
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

Predicted Primers

PCR Primer
(F):5'- TGTTCACAAAGCAGTCCAGCATCTC -3'
(R):5'- CGGCTACATTTACCAGGACTCCATC -3'

Sequencing Primer
(F):5'- CTTTGGCTTGACGCCAGAAG -3'
(R):5'- AGGACTCCATCGCCCTG -3'

Posted On

2014-04-24