Incidental Mutation 'R1749:Htr3a'
ID 194202
Institutional Source Beutler Lab
Gene Symbol Htr3a
Ensembl Gene ENSMUSG00000032269
Gene Name 5-hydroxytryptamine (serotonin) receptor 3A
Synonyms 5-HT3 receptor
MMRRC Submission 039781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1749 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 48810513-48822399 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48812233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 291 (V291A)
Ref Sequence ENSEMBL: ENSMUSP00000150647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003826] [ENSMUST00000217289]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000003826
AA Change: V291A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003826
Gene: ENSMUSG00000032269
AA Change: V291A

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 noncoding transcript
Transcript: ENSMUST00000216896
Predicted Effect probably damaging
Transcript: ENSMUST00000217289
AA Change: V291A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 93.0%
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 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak5 A T 3: 152,178,557 (GRCm39) M486K probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Aspn A T 13: 49,705,261 (GRCm39) D41V probably benign Het
Atp8a2 C A 14: 60,097,623 (GRCm39) E802* probably null Het
Barhl2 T C 5: 106,605,572 (GRCm39) S46G unknown Het
Cacna1e A G 1: 154,319,746 (GRCm39) V1318A probably damaging Het
Ccdc69 T C 11: 54,941,979 (GRCm39) R176G probably null Het
Cdan1 T C 2: 120,560,280 (GRCm39) N321S probably damaging Het
Cep85l T C 10: 53,154,250 (GRCm39) D681G probably damaging Het
Cntrob A T 11: 69,213,700 (GRCm39) V30E probably damaging Het
Csmd3 C T 15: 47,449,056 (GRCm39) G3646E probably damaging Het
Cx3cl1 A G 8: 95,506,789 (GRCm39) probably null Het
Dab1 A T 4: 104,185,495 (GRCm39) probably benign Het
Dennd2c T C 3: 103,039,352 (GRCm39) S167P possibly damaging Het
Dock2 A G 11: 34,182,767 (GRCm39) probably null Het
Dok3 GCC GC 13: 55,672,168 (GRCm39) probably null Het
Ebf1 A T 11: 44,798,835 (GRCm39) I287L possibly damaging Het
Eci1 G A 17: 24,645,721 (GRCm39) probably null Het
Emb T A 13: 117,386,242 (GRCm39) I133N possibly damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbn2 T C 18: 58,183,348 (GRCm39) D1779G probably benign Het
Fgfr4 T A 13: 55,315,605 (GRCm39) probably null Het
Flt1 G A 5: 147,591,929 (GRCm39) T511M probably benign Het
Gys1 T C 7: 45,089,456 (GRCm39) L205P probably damaging Het
Hepacam2 A G 6: 3,483,379 (GRCm39) V134A probably damaging Het
Ip6k3 T A 17: 27,364,053 (GRCm39) T332S probably benign Het
Klra6 A T 6: 129,995,915 (GRCm39) F148I probably damaging Het
Kntc1 T C 5: 123,927,162 (GRCm39) S1206P probably benign Het
Mbnl2 T A 14: 120,626,462 (GRCm39) C231S probably damaging Het
Mdn1 A T 4: 32,773,952 (GRCm39) D5521V probably damaging Het
Mylip G A 13: 45,557,946 (GRCm39) V52M possibly damaging Het
Naip6 A G 13: 100,444,763 (GRCm39) S232P probably benign Het
Ndc80 T C 17: 71,808,550 (GRCm39) K504R probably benign Het
Nf2 T C 11: 4,753,694 (GRCm39) N220S possibly damaging Het
Nfasc T A 1: 132,539,370 (GRCm39) I393F probably damaging Het
Or12d2 T C 17: 37,624,952 (GRCm39) T108A probably benign Het
Pabpc1 T C 15: 36,608,584 (GRCm39) Y56C probably damaging Het
Pcca A G 14: 122,938,542 (GRCm39) K498R probably damaging Het
Phldb1 A G 9: 44,627,045 (GRCm39) S467P probably damaging Het
Ptprn2 T C 12: 116,544,048 (GRCm39) S47P probably benign Het
Rtca A T 3: 116,291,293 (GRCm39) I229N possibly damaging Het
Sh3rf2 T A 18: 42,286,359 (GRCm39) S617R probably damaging Het
Slc14a2 T G 18: 78,190,295 (GRCm39) T885P possibly damaging Het
Sp100 A C 1: 85,627,357 (GRCm39) T417P possibly damaging Het
Tat A T 8: 110,722,846 (GRCm39) N303Y probably damaging Het
Tet2 A G 3: 133,185,892 (GRCm39) probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tnks1bp1 A G 2: 84,893,411 (GRCm39) S1113G probably benign Het
Tspear G A 10: 77,705,507 (GRCm39) E302K probably benign Het
Tulp3 A G 6: 128,314,722 (GRCm39) L23P probably damaging Het
Vti1b T C 12: 79,211,807 (GRCm39) E42G probably damaging Het
Yeats2 G T 16: 20,005,018 (GRCm39) E333* probably null Het
Zfp455 T G 13: 67,355,073 (GRCm39) C114G probably damaging Het
Zfp532 G A 18: 65,756,555 (GRCm39) V163M possibly damaging Het
Zfp940 A T 7: 29,544,952 (GRCm39) C318* 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
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
R7791:Htr3a UTSW 9 48,812,875 (GRCm39) missense possibly damaging 0.79
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'- GCTTATCACTAGCAGAGCCATGCAC -3'
(R):5'- TTTGCCAACTCCAGGTCCATACAC -3'

Sequencing Primer
(F):5'- GAGCCATGCACACCACAAAATAG -3'
(R):5'- CAGAATAGGGGTCTGTCACTCTC -3'
Posted On 2014-05-23