Incidental Mutation 'R8074:Htr1b'
ID 620421
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 067508-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R8074 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 81510344-81515881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81513582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 342 (F342L)
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: F342L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511
AA Change: F342L

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 probably benign
Transcript: ENSMUST00000183482
AA Change: F342L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511
AA Change: F342L

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
Meta Mutation Damage Score 0.1276 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,829,320 (GRCm39) I1380L probably benign Het
Adcy3 T C 12: 4,184,420 (GRCm39) V32A probably benign Het
Ano3 T A 2: 110,780,577 (GRCm39) probably benign Het
Arhgef12 G A 9: 42,882,399 (GRCm39) R1482* probably null Het
Cd300lg T G 11: 101,932,427 (GRCm39) L4R probably damaging Het
Cfap57 T A 4: 118,426,822 (GRCm39) K1072M possibly damaging Het
Clasp1 G T 1: 118,390,213 (GRCm39) M132I probably benign Het
Clec18a T G 8: 111,798,230 (GRCm39) D489A probably damaging Het
Cngb1 A G 8: 95,978,801 (GRCm39) S551P Het
Efna4 G A 3: 89,242,633 (GRCm39) T87M probably benign Het
Fam229b T C 10: 38,996,255 (GRCm39) R42G probably null Het
Gm17175 C T 14: 51,809,080 (GRCm39) M95I probably damaging Het
Grk4 A G 5: 34,833,482 (GRCm39) E96G probably benign Het
Helb A C 10: 119,925,321 (GRCm39) F1019V probably benign Het
Hsd17b2 T C 8: 118,485,440 (GRCm39) V301A possibly damaging Het
Idua C A 5: 108,828,441 (GRCm39) A265E possibly damaging Het
Jup T G 11: 100,277,113 (GRCm39) T32P probably damaging Het
Kidins220 A G 12: 25,107,715 (GRCm39) K1632E probably benign Het
Lef1 G A 3: 130,997,954 (GRCm39) probably null Het
Lypla2 A G 4: 135,697,112 (GRCm39) probably null Het
Mall A G 2: 127,571,785 (GRCm39) M1T probably null Het
Mettl25 G T 10: 105,661,941 (GRCm39) A343E probably benign Het
Mpdz T C 4: 81,267,324 (GRCm39) N940S probably benign Het
Nsun4 A T 4: 115,908,631 (GRCm39) V643D possibly damaging Het
Nupr1 A T 7: 126,224,109 (GRCm39) F70Y possibly damaging Het
Or1e17 T A 11: 73,831,213 (GRCm39) V47D possibly damaging Het
Or52b4i A G 7: 102,191,830 (GRCm39) H229R probably benign Het
Or52e8 A T 7: 104,624,934 (GRCm39) I90N probably damaging Het
Or5ac20 A G 16: 59,104,549 (GRCm39) F104L probably benign Het
Or8g32 A T 9: 39,305,242 (GRCm39) I49F probably damaging Het
Or8k3 C G 2: 86,058,473 (GRCm39) V281L possibly damaging Het
Pabpc4 A T 4: 123,180,508 (GRCm39) M77L probably benign Het
Phactr3 A G 2: 177,944,589 (GRCm39) E429G probably damaging Het
Polr3b A G 10: 84,549,523 (GRCm39) D915G probably damaging Het
Pramel14 A T 4: 143,718,424 (GRCm39) F340I probably benign Het
Prkcg T A 7: 3,372,037 (GRCm39) M501K probably damaging Het
Prkch G A 12: 73,747,041 (GRCm39) A307T possibly damaging Het
Ptprt A G 2: 161,769,581 (GRCm39) V428A possibly damaging Het
Rnf145 C A 11: 44,448,263 (GRCm39) D373E probably damaging Het
Scfd2 G T 5: 74,680,257 (GRCm39) Q299K probably benign Het
Septin2 A G 1: 93,433,283 (GRCm39) D315G probably benign Het
Sf3a1 T A 11: 4,125,435 (GRCm39) Y408* probably null Het
Siglecf A T 7: 43,001,214 (GRCm39) N61Y possibly damaging Het
Sis A T 3: 72,824,531 (GRCm39) I1334K probably damaging Het
Slc38a6 A T 12: 73,391,658 (GRCm39) T307S possibly damaging Het
Spag9 T A 11: 94,002,877 (GRCm39) F1129Y probably damaging Het
Sra1 G A 18: 36,808,064 (GRCm39) A388V possibly damaging Het
Srpk1 T G 17: 28,840,990 (GRCm39) K12T probably damaging Het
Stam2 A T 2: 52,596,438 (GRCm39) I333K probably damaging Het
Tle1 GAA GA 4: 72,057,216 (GRCm39) probably null Het
Tmem121b T C 6: 120,469,869 (GRCm39) K283E possibly damaging Het
Tmem200a T C 10: 25,868,850 (GRCm39) E473G probably damaging Het
Tnxb T A 17: 34,922,955 (GRCm39) S2513T probably benign Het
Ttc16 A T 2: 32,664,135 (GRCm39) probably benign Het
Ttll8 C T 15: 88,799,578 (GRCm39) C621Y probably damaging Het
Ubn2 T A 6: 38,417,475 (GRCm39) M171K probably benign Het
Vmn2r19 T A 6: 123,312,904 (GRCm39) V658D probably damaging Het
Vmn2r6 A T 3: 64,455,064 (GRCm39) probably benign Het
Vwa3a A T 7: 120,398,321 (GRCm39) I941L probably benign Het
Zbtb24 A G 10: 41,327,228 (GRCm39) D38G probably damaging Het
Zfp628 T C 7: 4,923,205 (GRCm39) C476R probably damaging Het
Zfp831 A C 2: 174,486,528 (GRCm39) N401T possibly damaging 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
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
R9098:Htr1b UTSW 9 81,514,481 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TTGACCTACCTGTGAAAAGACCC -3'
(R):5'- GGTCTCCTGTGTACGTGAAC -3'

Sequencing Primer
(F):5'- TTGGTCCCCAAAGGTCGCTTAG -3'
(R):5'- CCTGTGTACGTGAACCAAGTC -3'
Posted On 2020-01-23