Incidental Mutation 'R7791:Htr3a'
ID 599883
Institutional Source Beutler Lab
Gene Symbol Htr3a
Ensembl Gene ENSMUSG00000032269
Gene Name 5-hydroxytryptamine (serotonin) receptor 3A
Synonyms 5-HT3 receptor
MMRRC Submission 045847-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7791 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 48810513-48822399 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48812875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 188 (Q188L)
Ref Sequence ENSEMBL: ENSMUSP00000003826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003826] [ENSMUST00000217289]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000003826
AA Change: Q188L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003826
Gene: ENSMUSG00000032269
AA Change: Q188L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 25 36 N/A INTRINSIC
Pfam:Neur_chan_LBD 40 247 4.7e-57 PFAM
Pfam:Neur_chan_memb 254 480 1.8e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217289
AA Change: Q188L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (51/51)
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 A 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 appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display a decreased lifespan, cachexia, increased blood urea nitrogen, proteinuria, kidney inflammation, and a hyperdistended and neurogenic urinary bladder. Mice homozygous for a second null mutation display reduced chemical pain persistence responses but are otherwise healthy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,508 (GRCm39) M108K probably benign Het
AAdacl4fm3 A G 4: 144,430,015 (GRCm39) S325P probably damaging Het
Adamts9 A T 6: 92,849,366 (GRCm39) V1031D probably benign Het
Agap3 C T 5: 24,681,411 (GRCm39) R122C probably damaging Het
Arhgap27 A G 11: 103,230,020 (GRCm39) probably null Het
Atp1a2 T A 1: 172,103,782 (GRCm39) I950F probably benign Het
Bahcc1 T G 11: 120,159,203 (GRCm39) H143Q probably damaging Het
Bcl7b T A 5: 135,199,968 (GRCm39) D40E probably damaging Het
C9 C T 15: 6,519,359 (GRCm39) R399C possibly damaging Het
Capn13 T C 17: 73,689,883 (GRCm39) I43V possibly damaging Het
Ctcf A G 8: 106,391,571 (GRCm39) T289A possibly damaging Het
Cux2 T C 5: 122,005,162 (GRCm39) N1008S probably benign Het
Dst T A 1: 34,193,673 (GRCm39) M294K probably damaging Het
Eml4 G T 17: 83,781,135 (GRCm39) D778Y probably benign Het
Exoc3l4 A C 12: 111,389,974 (GRCm39) D183A probably damaging Het
Eya4 A T 10: 22,989,825 (GRCm39) S511T probably damaging Het
Fbrsl1 T C 5: 110,595,885 (GRCm39) H50R probably benign Het
Gemin5 G A 11: 58,015,819 (GRCm39) P1396S probably benign Het
Gnb4 A G 3: 32,644,192 (GRCm39) F151L possibly damaging Het
Gnptab A G 10: 88,276,084 (GRCm39) probably null Het
Gpbp1l1 T A 4: 116,431,617 (GRCm39) W92R probably damaging Het
Gucy1b1 A T 3: 81,942,704 (GRCm39) Y479* probably null Het
Ighv5-9-1 A G 12: 113,700,165 (GRCm39) F18S probably damaging Het
Loxhd1 A G 18: 77,471,425 (GRCm39) T1004A probably damaging Het
Mansc4 G A 6: 146,983,042 (GRCm39) L132F unknown Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtor G T 4: 148,547,397 (GRCm39) R460L probably benign Het
Mtus1 A T 8: 41,536,417 (GRCm39) F433Y possibly damaging Het
Myoc T C 1: 162,476,690 (GRCm39) Y465H probably damaging Het
N4bp1 A G 8: 87,579,831 (GRCm39) V657A probably damaging Het
Ndufv1 A T 19: 4,061,533 (GRCm39) probably null Het
Nectin1 T C 9: 43,703,336 (GRCm39) I198T probably benign Het
Or10h1 T A 17: 33,418,326 (GRCm39) C101* probably null Het
Or8g20 T C 9: 39,396,177 (GRCm39) D124G probably damaging Het
Padi2 C T 4: 140,644,907 (GRCm39) T47I probably benign Het
Pdia4 A T 6: 47,784,056 (GRCm39) I116N probably damaging Het
Pkdrej T A 15: 85,700,132 (GRCm39) I1935L possibly damaging Het
Pnpla7 C A 2: 24,942,078 (GRCm39) A1173D probably damaging Het
Ralgapa1 A T 12: 55,788,304 (GRCm39) L593Q probably damaging Het
Scn5a A G 9: 119,372,402 (GRCm39) S231P possibly damaging Het
Slc13a2 A G 11: 78,312,890 (GRCm39) probably null Het
Spdl1 A G 11: 34,704,304 (GRCm39) S510P possibly damaging Het
Tbxa2r G T 10: 81,170,540 (GRCm39) *342L probably null Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Tmem52b A G 6: 129,489,966 (GRCm39) probably benign Het
Tsc1 T C 2: 28,571,960 (GRCm39) F844L probably damaging Het
Ttc39a A G 4: 109,283,544 (GRCm39) N158S probably benign Het
Ulk4 C T 9: 121,092,734 (GRCm39) E168K possibly damaging Het
Vgf T C 5: 137,060,885 (GRCm39) L349P unknown Het
Vil1 T C 1: 74,467,295 (GRCm39) Y681H probably damaging Het
Zfp654 A G 16: 64,603,634 (GRCm39) *572R probably null Het
Other mutations in Htr3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Htr3a APN 9 48,815,927 (GRCm39) missense probably damaging 0.99
R0238:Htr3a UTSW 9 48,817,686 (GRCm39) missense probably benign 0.06
R0238:Htr3a UTSW 9 48,817,686 (GRCm39) missense probably benign 0.06
R0403:Htr3a UTSW 9 48,819,959 (GRCm39) missense probably damaging 0.96
R0899:Htr3a UTSW 9 48,812,752 (GRCm39) missense possibly damaging 0.78
R1749:Htr3a UTSW 9 48,812,233 (GRCm39) missense probably damaging 1.00
R1903:Htr3a UTSW 9 48,817,681 (GRCm39) missense probably damaging 1.00
R1942:Htr3a UTSW 9 48,819,911 (GRCm39) missense probably damaging 1.00
R2218:Htr3a UTSW 9 48,819,911 (GRCm39) missense probably damaging 1.00
R2394:Htr3a UTSW 9 48,817,643 (GRCm39) missense probably benign 0.29
R2402:Htr3a UTSW 9 48,812,795 (GRCm39) missense probably damaging 1.00
R3430:Htr3a UTSW 9 48,818,688 (GRCm39) missense probably benign 0.35
R6042:Htr3a UTSW 9 48,815,999 (GRCm39) missense probably damaging 0.99
R6395:Htr3a UTSW 9 48,811,871 (GRCm39) missense probably benign 0.00
R6407:Htr3a UTSW 9 48,812,355 (GRCm39) nonsense probably null
R8724:Htr3a UTSW 9 48,815,981 (GRCm39) missense probably damaging 0.99
R9049:Htr3a UTSW 9 48,811,087 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAAAGGGGCTGCTATGTCCTTC -3'
(R):5'- GGCTGAGGAAACCCAATCTG -3'

Sequencing Primer
(F):5'- GCTTCACTGTGCTACCCCAAG -3'
(R):5'- CCCAATCTGAGAGTTAAGGGC -3'
Posted On 2019-11-26