Incidental Mutation 'R3411:Htr1b'
ID 267723
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 040629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R3411 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 81510344-81515881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 81514094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 171 (V171G)
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: V171G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511
AA Change: V171G

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 probably benign
Transcript: ENSMUST00000183482
AA Change: V171G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511
AA Change: V171G

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
Meta Mutation Damage Score 0.4614 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (62/62)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,466,596 (GRCm39) V675D possibly damaging Het
Adamts16 T C 13: 70,901,345 (GRCm39) T911A probably benign Het
Adgra1 T C 7: 139,427,619 (GRCm39) F62S possibly damaging Het
Adgra3 A G 5: 50,159,272 (GRCm39) V326A probably damaging Het
Aff1 T A 5: 103,902,572 (GRCm39) M1K probably null Het
AI429214 C T 8: 37,461,071 (GRCm39) S73L probably benign Het
Apc C A 18: 34,402,312 (GRCm39) probably benign Het
Apcs T C 1: 172,722,130 (GRCm39) Y72C probably damaging Het
Arid4a T C 12: 71,108,299 (GRCm39) probably benign Het
Armcx4 C A X: 133,591,774 (GRCm39) Q561K probably benign Het
Atp5po C T 16: 91,725,794 (GRCm39) R64H probably damaging Het
Bank1 G A 3: 135,953,534 (GRCm39) probably benign Het
Ccdc150 A G 1: 54,395,932 (GRCm39) D805G probably benign Het
Ccdc88a T A 11: 29,436,006 (GRCm39) C10S probably damaging Het
Dnah1 A T 14: 30,991,774 (GRCm39) M3076K possibly damaging Het
Dnpep A G 1: 75,293,270 (GRCm39) V33A probably damaging Het
Egfem1 C T 3: 29,637,170 (GRCm39) T202I probably damaging Het
Fam120b T A 17: 15,651,897 (GRCm39) probably benign Het
Frem1 T C 4: 82,881,416 (GRCm39) T1263A possibly damaging Het
Gm6802 C A 12: 19,540,621 (GRCm39) noncoding transcript Het
Golga2 C A 2: 32,192,954 (GRCm39) A424E probably damaging Het
Gpat2 G A 2: 127,270,211 (GRCm39) V75M probably damaging Het
Grik5 T C 7: 24,762,397 (GRCm39) D198G probably benign Het
Hcrtr2 A G 9: 76,140,290 (GRCm39) F333L probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Kalrn G T 16: 34,032,642 (GRCm39) D1117E probably benign Het
Kcp T C 6: 29,482,845 (GRCm39) N1408S possibly damaging Het
Klhl7 G T 5: 24,343,319 (GRCm39) V212L probably damaging Het
Klra17 T A 6: 129,851,809 (GRCm39) N21I probably damaging Het
Lrrc8d A T 5: 105,974,572 (GRCm39) noncoding transcript Het
Mast2 C G 4: 116,168,107 (GRCm39) E881Q possibly damaging Het
Mcm6 T C 1: 128,279,322 (GRCm39) T155A probably benign Het
Mslnl T C 17: 25,963,491 (GRCm39) F326L probably benign Het
Nlrp4c A G 7: 6,095,569 (GRCm39) K816E possibly damaging Het
Or10g1 T A 14: 52,647,818 (GRCm39) R170S possibly damaging Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Or5p69 A T 7: 107,967,551 (GRCm39) I285F possibly damaging Het
Or8k3 T C 2: 86,058,986 (GRCm39) S110G probably benign Het
Otoa A G 7: 120,721,266 (GRCm39) Q427R probably damaging Het
Pcdhb6 A G 18: 37,468,945 (GRCm39) E622G probably damaging Het
Pdzd8 A G 19: 59,333,845 (GRCm39) Y59H probably damaging Het
Psmc3 A C 2: 90,886,263 (GRCm39) D159A probably damaging Het
Ripk4 T C 16: 97,545,157 (GRCm39) T497A probably benign Het
Rpn2 C A 2: 157,132,572 (GRCm39) A108E possibly damaging Het
Serpina3n A G 12: 104,377,536 (GRCm39) E263G possibly damaging Het
Six4 A G 12: 73,159,657 (GRCm39) F101S probably damaging Het
Slc16a4 G A 3: 107,208,188 (GRCm39) E233K probably benign Het
Smu1 T C 4: 40,752,008 (GRCm39) T183A probably benign Het
Sptb T G 12: 76,657,589 (GRCm39) K1311Q possibly damaging Het
Styxl1 T C 5: 135,794,618 (GRCm39) Y83C probably damaging Het
Sypl2 C T 3: 108,124,045 (GRCm39) V166I possibly damaging Het
Tal2 A G 4: 53,785,843 (GRCm39) N8S probably damaging Het
Tenm4 T C 7: 96,501,737 (GRCm39) Y1314H probably damaging Het
Ttn A C 2: 76,772,749 (GRCm39) N2415K possibly damaging Het
Usp53 T C 3: 122,743,507 (GRCm39) probably null Het
Vmn2r65 T C 7: 84,595,896 (GRCm39) I263V 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
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
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'- TCTGTTTCAAAATCCGAGAGCG -3'
(R):5'- CATGTACACGGTCACTGGAC -3'

Sequencing Primer
(F):5'- AGCGGGCTTCCACATAGATG -3'
(R):5'- TCACTGGACGCTGGACACTAG -3'
Posted On 2015-02-18