Incidental Mutation 'R0697:Htr1b'
ID 63896
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 038881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R0697 (G1)
Quality Score 95
Status Not validated
Chromosome 9
Chromosomal Location 81510344-81515881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81513516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 364 (I364V)
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: I364V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511
AA Change: I364V

DomainStartEndE-ValueType
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: I364V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511
AA Change: I364V

DomainStartEndE-ValueType
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: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C A 19: 31,888,567 (GRCm39) A99E probably damaging Het
Aig1 T C 10: 13,705,069 (GRCm39) N72S probably benign Het
Atad2 T C 15: 57,968,939 (GRCm39) I857M possibly damaging Het
Ceacam15 A C 7: 16,407,445 (GRCm39) L24* probably null Het
Cpsf2 A G 12: 101,949,443 (GRCm39) H53R probably benign Het
Crh C A 3: 19,748,241 (GRCm39) G134C probably damaging Het
Cyp2g1 A T 7: 26,514,152 (GRCm39) K253* probably null Het
Dna2 T C 10: 62,785,120 (GRCm39) V79A probably benign Het
Dsc2 A G 18: 20,174,509 (GRCm39) V549A probably damaging Het
Etl4 G T 2: 20,748,672 (GRCm39) V135F probably damaging Het
Frk A G 10: 34,483,833 (GRCm39) H398R probably benign Het
Gfra1 A C 19: 58,258,555 (GRCm39) S271A probably benign Het
Kcnh5 A T 12: 75,023,305 (GRCm39) C588S possibly damaging Het
Kif13a G A 13: 47,001,813 (GRCm39) T70I probably benign Het
Klra6 T C 6: 129,993,687 (GRCm39) I195V probably benign Het
Nras T C 3: 102,967,616 (GRCm39) Y71H possibly damaging Het
Sirt5 T C 13: 43,539,052 (GRCm39) F274L probably damaging Het
Synj1 T C 16: 90,757,503 (GRCm39) T882A probably benign Het
Vmn1r84 A T 7: 12,096,690 (GRCm39) M1K probably null Het
Zfhx4 A T 3: 5,466,793 (GRCm39) E2317V probably damaging Het
Zfp345 A T 2: 150,314,829 (GRCm39) I236K probably benign Het
Other mutations in Htr1b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GCTTCCACCCAGTAACAGGGAAAG -3'
(R):5'- CGTGAACCAAGTCAAAGTGCGAGTC -3'

Sequencing Primer
(F):5'- GAAAGAAGATTTGACCTACCTGTG -3'
(R):5'- AAACTCATGGCCGCTAGG -3'
Posted On 2013-07-30