Incidental Mutation 'IGL01401:Htr3b'
ID79644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr3b
Ensembl Gene ENSMUSG00000008590
Gene Name5-hydroxytryptamine (serotonin) receptor 3B
Synonyms5-HT3B, 5-HT3 receptor subunit B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01401
Quality Score
Status
Chromosome9
Chromosomal Location48935008-48964990 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48947634 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 68 (D68G)
Ref Sequence ENSEMBL: ENSMUSP00000008734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008734]
Predicted Effect probably damaging
Transcript: ENSMUST00000008734
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008734
Gene: ENSMUSG00000008590
AA Change: D68G

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik A G 6: 149,326,896 E480G probably damaging Het
4932438A13Rik A G 3: 36,942,292 N1051S probably benign Het
Adgrl3 T C 5: 81,688,669 V758A possibly damaging Het
Arf4 T C 14: 26,638,454 L12P probably damaging Het
C4bp A T 1: 130,648,064 V230E possibly damaging Het
Carm1 T A 9: 21,569,582 probably null Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Ceacam16 T C 7: 19,861,129 Y8C probably benign Het
Ckap2l A T 2: 129,269,216 V687E probably damaging Het
Dcaf4 A G 12: 83,541,374 D449G probably damaging Het
Dhx38 T C 8: 109,552,114 Y1113C probably benign Het
Fry A G 5: 150,438,788 I161V probably benign Het
Gm17093 A C 14: 44,521,527 M169L unknown Het
Gm20721 A G 2: 174,345,502 D999G probably damaging Het
Grin2b T C 6: 135,736,363 H840R probably damaging Het
Hoxc12 C A 15: 102,937,320 H156Q probably benign Het
Inpp5b T C 4: 124,746,087 V99A probably damaging Het
Klhl42 C T 6: 147,107,743 T360M probably benign Het
Lmo7 C T 14: 101,794,277 R36* probably null Het
Lmod3 T G 6: 97,252,552 N7T probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mthfd2l T A 5: 91,000,566 I284K possibly damaging Het
Myo1e T A 9: 70,327,166 I267N probably damaging Het
Olfr1393 T A 11: 49,280,487 V113E possibly damaging Het
Olfr159 T C 4: 43,770,112 R300G probably damaging Het
Prkce T C 17: 86,168,840 V83A probably damaging Het
Pxdn G T 12: 30,001,984 C540F probably damaging Het
Ryr2 T A 13: 11,591,352 E4448V possibly damaging Het
Scn1a A T 2: 66,289,111 N1349K probably damaging Het
Smarcc1 T C 9: 110,149,965 I172T possibly damaging Het
Syt16 T C 12: 74,222,663 V92A possibly damaging Het
Tenm4 A G 7: 96,874,267 Y1672C probably damaging Het
Tmem131 A G 1: 36,799,387 Y1486H probably damaging Het
Tmem132a A G 19: 10,861,524 probably benign Het
Usp40 A T 1: 87,994,198 D314E probably damaging Het
Vmn2r79 G A 7: 87,037,273 V621I probably benign Het
Wnk4 A G 11: 101,276,683 probably benign Het
Wwc1 C A 11: 35,898,618 probably null Het
Other mutations in Htr3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02576:Htr3b APN 9 48945504 missense possibly damaging 0.67
space UTSW 9 48937156 missense probably damaging 1.00
stove UTSW 9 48936043 splice site probably null
thermador UTSW 9 48959218 missense possibly damaging 0.94
R0594:Htr3b UTSW 9 48947631 missense probably benign 0.09
R1158:Htr3b UTSW 9 48936090 missense possibly damaging 0.55
R1690:Htr3b UTSW 9 48937094 missense possibly damaging 0.51
R2184:Htr3b UTSW 9 48947244 missense probably damaging 1.00
R3441:Htr3b UTSW 9 48945515 missense probably benign 0.01
R3442:Htr3b UTSW 9 48945515 missense probably benign 0.01
R4334:Htr3b UTSW 9 48945509 missense probably damaging 1.00
R4906:Htr3b UTSW 9 48937048 critical splice donor site probably null
R4985:Htr3b UTSW 9 48935941 missense possibly damaging 0.95
R4992:Htr3b UTSW 9 48959218 missense possibly damaging 0.94
R5197:Htr3b UTSW 9 48945515 missense probably benign 0.01
R5238:Htr3b UTSW 9 48937242 nonsense probably null
R6086:Htr3b UTSW 9 48947298 missense probably benign 0.16
R6328:Htr3b UTSW 9 48947633 missense probably damaging 1.00
R6412:Htr3b UTSW 9 48946519 missense possibly damaging 0.94
R7140:Htr3b UTSW 9 48937141 missense possibly damaging 0.52
R7349:Htr3b UTSW 9 48936019 missense probably benign 0.05
R7596:Htr3b UTSW 9 48936061 missense probably benign 0.31
R7815:Htr3b UTSW 9 48945533 missense probably benign 0.02
R7920:Htr3b UTSW 9 48937156 missense probably damaging 1.00
R7960:Htr3b UTSW 9 48945552 missense probably benign 0.08
R8103:Htr3b UTSW 9 48946549 missense possibly damaging 0.94
R8210:Htr3b UTSW 9 48936043 splice site probably null
R8318:Htr3b UTSW 9 48964877 start gained probably benign
R8359:Htr3b UTSW 9 48947296 missense probably damaging 0.99
R8507:Htr3b UTSW 9 48964877 start gained probably benign
Posted On2013-11-05