Incidental Mutation 'R4334:Htr3b'
ID 323699
Institutional Source Beutler Lab
Gene Symbol Htr3b
Ensembl Gene ENSMUSG00000008590
Gene Name 5-hydroxytryptamine (serotonin) receptor 3B
Synonyms 5-HT3B, 5-HT3 receptor subunit B
MMRRC Submission 041664-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4334 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 48846308-48876290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48856809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 223 (A223V)
Ref Sequence ENSEMBL: ENSMUSP00000008734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008734]
AlphaFold Q9JHJ5
Predicted Effect probably damaging
Transcript: ENSMUST00000008734
AA Change: A223V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008734
Gene: ENSMUSG00000008590
AA Change: A223V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Neur_chan_LBD 28 235 1.5e-48 PFAM
Pfam:Neur_chan_memb 242 336 2.2e-15 PFAM
transmembrane domain 412 434 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,537,242 (GRCm39) V447E probably damaging Het
Adcyap1 T C 17: 93,509,696 (GRCm39) L49P probably benign Het
B4galt4 T C 16: 38,572,621 (GRCm39) I102T probably damaging Het
Cc2d2a A G 5: 43,840,476 (GRCm39) D110G probably benign Het
Ccdc141 C T 2: 77,000,776 (GRCm39) V19I probably damaging Het
Ccdc39 A G 3: 33,892,031 (GRCm39) L147P probably damaging Het
Cdc5l A T 17: 45,721,712 (GRCm39) D519E probably benign Het
Cdh23 G T 10: 60,220,838 (GRCm39) T1305K probably damaging Het
Cfi T A 3: 129,644,478 (GRCm39) V158D possibly damaging Het
Clstn2 T G 9: 97,345,581 (GRCm39) Y589S probably damaging Het
Dsp A G 13: 38,380,640 (GRCm39) K1863E possibly damaging Het
Enpp3 A T 10: 24,669,487 (GRCm39) M491K probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fkbp15 G A 4: 62,221,456 (GRCm39) A1170V possibly damaging Het
Foxa2 T C 2: 147,886,623 (GRCm39) N64S possibly damaging Het
Foxm1 T C 6: 128,342,930 (GRCm39) I88T probably damaging Het
Gm3173 A T 14: 15,728,364 (GRCm39) I8L possibly damaging Het
Gpatch3 A G 4: 133,309,792 (GRCm39) D375G probably damaging Het
Herc2 T C 7: 55,876,402 (GRCm39) F4436L probably damaging Het
Iars2 T A 1: 185,035,591 (GRCm39) T550S probably benign Het
Igsf9 A T 1: 172,321,779 (GRCm39) K149* probably null Het
Khnyn A G 14: 56,131,499 (GRCm39) D536G probably damaging Het
Kng1 T C 16: 22,898,370 (GRCm39) V409A possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Madd C T 2: 90,970,917 (GRCm39) V1508I probably benign Het
Micall2 T C 5: 139,699,105 (GRCm39) E527G probably damaging Het
Myo7b A G 18: 32,110,040 (GRCm39) S1141P probably damaging Het
Ncoa2 G A 1: 13,245,187 (GRCm39) P504S possibly damaging Het
Notch1 G A 2: 26,350,048 (GRCm39) T2364I probably benign Het
Pde4c T A 8: 71,202,475 (GRCm39) probably null Het
Pik3cb A G 9: 98,943,904 (GRCm39) L633P probably damaging Het
Ranbp2 T A 10: 58,299,816 (GRCm39) D483E probably damaging Het
Sh3tc2 A G 18: 62,123,392 (GRCm39) N718D probably damaging Het
Spast G A 17: 74,659,010 (GRCm39) A126T probably damaging Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Tmprss6 T A 15: 78,343,627 (GRCm39) probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Unc79 C T 12: 103,045,233 (GRCm39) T803M probably benign Het
Vmn2r118 A T 17: 55,917,347 (GRCm39) F388L possibly damaging Het
Vmn2r71 T C 7: 85,269,042 (GRCm39) V415A probably benign Het
Wdr4 A T 17: 31,718,126 (GRCm39) F316Y possibly damaging Het
Zfp810 T C 9: 22,190,080 (GRCm39) Y276C probably benign Het
Other mutations in Htr3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Htr3b APN 9 48,858,934 (GRCm39) missense probably damaging 1.00
IGL02576:Htr3b APN 9 48,856,804 (GRCm39) missense possibly damaging 0.67
space UTSW 9 48,848,456 (GRCm39) missense probably damaging 1.00
stove UTSW 9 48,847,343 (GRCm39) splice site probably null
thermador UTSW 9 48,870,518 (GRCm39) missense possibly damaging 0.94
R0594:Htr3b UTSW 9 48,858,931 (GRCm39) missense probably benign 0.09
R1158:Htr3b UTSW 9 48,847,390 (GRCm39) missense possibly damaging 0.55
R1690:Htr3b UTSW 9 48,848,394 (GRCm39) missense possibly damaging 0.51
R2184:Htr3b UTSW 9 48,858,544 (GRCm39) missense probably damaging 1.00
R3441:Htr3b UTSW 9 48,856,815 (GRCm39) missense probably benign 0.01
R3442:Htr3b UTSW 9 48,856,815 (GRCm39) missense probably benign 0.01
R4906:Htr3b UTSW 9 48,848,348 (GRCm39) critical splice donor site probably null
R4985:Htr3b UTSW 9 48,847,241 (GRCm39) missense possibly damaging 0.95
R4992:Htr3b UTSW 9 48,870,518 (GRCm39) missense possibly damaging 0.94
R5197:Htr3b UTSW 9 48,856,815 (GRCm39) missense probably benign 0.01
R5238:Htr3b UTSW 9 48,848,542 (GRCm39) nonsense probably null
R6086:Htr3b UTSW 9 48,858,598 (GRCm39) missense probably benign 0.16
R6328:Htr3b UTSW 9 48,858,933 (GRCm39) missense probably damaging 1.00
R6412:Htr3b UTSW 9 48,857,819 (GRCm39) missense possibly damaging 0.94
R7140:Htr3b UTSW 9 48,848,441 (GRCm39) missense possibly damaging 0.52
R7349:Htr3b UTSW 9 48,847,319 (GRCm39) missense probably benign 0.05
R7596:Htr3b UTSW 9 48,847,361 (GRCm39) missense probably benign 0.31
R7815:Htr3b UTSW 9 48,856,833 (GRCm39) missense probably benign 0.02
R7920:Htr3b UTSW 9 48,848,456 (GRCm39) missense probably damaging 1.00
R7960:Htr3b UTSW 9 48,856,852 (GRCm39) missense probably benign 0.08
R8103:Htr3b UTSW 9 48,857,849 (GRCm39) missense possibly damaging 0.94
R8210:Htr3b UTSW 9 48,847,343 (GRCm39) splice site probably null
R8318:Htr3b UTSW 9 48,876,177 (GRCm39) start gained probably benign
R8359:Htr3b UTSW 9 48,858,596 (GRCm39) missense probably damaging 0.99
R8507:Htr3b UTSW 9 48,876,177 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CTGAGCTCAGATACTGGTGC -3'
(R):5'- TAATACCAGGGGTGTGGGTC -3'

Sequencing Primer
(F):5'- CTGGTGCACAGGTGAATGG -3'
(R):5'- CCATGTCTCTTCCAGGGTG -3'
Posted On 2015-06-24