Incidental Mutation 'R0238:Htr3a'
ID 66113
Institutional Source Beutler Lab
Gene Symbol Htr3a
Ensembl Gene ENSMUSG00000032269
Gene Name 5-hydroxytryptamine (serotonin) receptor 3A
Synonyms 5-HT3 receptor
MMRRC Submission 038476-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0238 (G1)
Quality Score 129
Status Not validated
Chromosome 9
Chromosomal Location 48810513-48822399 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48817686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 96 (T96A)
Ref Sequence ENSEMBL: ENSMUSP00000003826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003826] [ENSMUST00000217289]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000003826
AA Change: T96A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000003826
Gene: ENSMUSG00000032269
AA Change: T96A

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 benign
Transcript: ENSMUST00000217289
AA Change: T96A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Meta Mutation Damage Score 0.1255 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 92.6%
  • 20x: 76.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T G 2: 156,392,893 (GRCm39) V94G probably benign Het
Acp5 A T 9: 22,041,218 (GRCm39) S70T possibly damaging Het
Adcy1 C G 11: 7,089,162 (GRCm39) N525K possibly damaging Het
Aknad1 A G 3: 108,688,555 (GRCm39) M628V probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Cacna1d A G 14: 29,845,453 (GRCm39) V572A probably benign Het
Ccdc158 A C 5: 92,809,977 (GRCm39) M177R probably benign Het
Ccdc191 A T 16: 43,767,859 (GRCm39) R678* probably null Het
Cdkn2d C A 9: 21,202,288 (GRCm39) probably benign Het
Cdx2 G T 5: 147,240,097 (GRCm39) T193K probably damaging Het
Cfap44 T A 16: 44,242,681 (GRCm39) M695K probably benign Het
Cfap70 A C 14: 20,498,673 (GRCm39) S5A probably benign Het
Chd9 T C 8: 91,659,456 (GRCm39) S139P probably damaging Het
Chmp7 A G 14: 69,958,446 (GRCm39) V241A probably damaging Het
Cnga1 A G 5: 72,762,374 (GRCm39) I380T probably damaging Het
Cts6 T A 13: 61,349,633 (GRCm39) E53D probably damaging Het
Dclk3 A T 9: 111,311,696 (GRCm39) N646I probably damaging Het
Dnhd1 A G 7: 105,370,738 (GRCm39) S4673G probably benign Het
Dock4 G T 12: 40,787,539 (GRCm39) S818I probably damaging Het
Dysf C T 6: 84,041,461 (GRCm39) Q156* probably null Het
Fam163b T C 2: 27,002,646 (GRCm39) N117S probably damaging Het
Fam89a A G 8: 125,467,971 (GRCm39) Y114H probably damaging Het
Flcn T C 11: 59,691,902 (GRCm39) N249S probably benign Het
Gm20422 T C 8: 70,219,365 (GRCm39) Y53C probably damaging Het
Gnai1 A G 5: 18,478,548 (GRCm39) S206P probably damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Hal T C 10: 93,339,344 (GRCm39) S478P possibly damaging Het
Haus3 G A 5: 34,323,600 (GRCm39) P337S possibly damaging Het
Hectd1 T A 12: 51,816,101 (GRCm39) M1324L possibly damaging Het
Hspa9 A T 18: 35,079,699 (GRCm39) Y243* probably null Het
Ift140 C A 17: 25,264,497 (GRCm39) C557* probably null Het
Jph3 A G 8: 122,480,459 (GRCm39) Q379R possibly damaging Het
Kcnb1 A G 2: 166,946,889 (GRCm39) V653A probably benign Het
Kif14 A G 1: 136,455,131 (GRCm39) E1551G probably damaging Het
Krt17 G A 11: 100,151,704 (GRCm39) R30* probably null Het
Lamb3 A T 1: 193,003,361 (GRCm39) D100V probably damaging Het
Map2 A G 1: 66,455,265 (GRCm39) D1385G probably damaging Het
Map3k21 A G 8: 126,671,709 (GRCm39) D999G possibly damaging Het
Marf1 T C 16: 13,969,147 (GRCm39) I109V probably benign Het
Mcam T G 9: 44,051,502 (GRCm39) probably null Het
Med18 T C 4: 132,187,337 (GRCm39) H99R probably damaging Het
Mettl25 C T 10: 105,662,386 (GRCm39) V195I probably damaging Het
Myh8 A G 11: 67,192,518 (GRCm39) T1466A probably benign Het
Myo1e A T 9: 70,249,408 (GRCm39) I503F possibly damaging Het
Myo3b T A 2: 69,935,769 (GRCm39) C61S probably benign Het
Myorg A T 4: 41,498,912 (GRCm39) N239K probably benign Het
Nf1 A T 11: 79,309,400 (GRCm39) K438M possibly damaging Het
Nlrp9c A G 7: 26,077,437 (GRCm39) S727P possibly damaging Het
Nmbr C T 10: 14,646,139 (GRCm39) Q338* probably null Het
Nt5e A G 9: 88,249,385 (GRCm39) S440G possibly damaging Het
Nubp2 T C 17: 25,103,445 (GRCm39) E144G probably damaging Het
Or12e7 T C 2: 87,288,381 (GRCm39) F291L probably benign Het
Or2ag1b A G 7: 106,288,462 (GRCm39) Y159H probably benign Het
Or52s1 G A 7: 102,861,933 (GRCm39) V289M possibly damaging Het
Otogl T A 10: 107,642,557 (GRCm39) N1291I probably damaging Het
Pa2g4 T C 10: 128,399,511 (GRCm39) K51R probably benign Het
Pcdhb12 A G 18: 37,569,780 (GRCm39) I309V probably benign Het
Pck1 T G 2: 172,998,861 (GRCm39) I373S possibly damaging Het
Pga5 A G 19: 10,646,817 (GRCm39) Y305H probably damaging Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Ppfia4 T C 1: 134,256,927 (GRCm39) E98G possibly damaging Het
Rab39 G A 9: 53,617,330 (GRCm39) T29I probably damaging Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Rars2 A C 4: 34,656,030 (GRCm39) Q421P probably benign Het
Rars2 T C 4: 34,645,838 (GRCm39) Y252H probably damaging Het
Rasa2 A T 9: 96,450,460 (GRCm39) D479E probably damaging Het
Rbl2 A T 8: 91,833,135 (GRCm39) T689S probably damaging Het
Rims4 C T 2: 163,705,945 (GRCm39) V230M probably benign Het
Skp2 A C 15: 9,127,971 (GRCm39) probably null Het
Slc35f4 A T 14: 49,541,713 (GRCm39) I347N possibly damaging Het
Slc4a2 A T 5: 24,641,272 (GRCm39) probably null Het
Slc52a3 T C 2: 151,850,076 (GRCm39) *461Q probably null Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Susd5 A G 9: 113,925,977 (GRCm39) *620W probably null Het
Timm21 T C 18: 84,965,791 (GRCm39) N239S probably damaging Het
Tmem63c T C 12: 87,122,413 (GRCm39) W404R probably damaging Het
Tnrc6b A G 15: 80,772,065 (GRCm39) D1118G probably damaging Het
Traf2 G C 2: 25,427,138 (GRCm39) A71G possibly damaging Het
Trim54 A G 5: 31,291,463 (GRCm39) M195V probably benign Het
Trip11 C T 12: 101,850,987 (GRCm39) E741K probably damaging Het
Trp73 AGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTG 4: 154,146,981 (GRCm39) probably benign Het
Trpm5 G T 7: 142,636,695 (GRCm39) T414N probably damaging Het
Vps51 G T 19: 6,121,467 (GRCm39) S185* probably null Het
Zfp329 G T 7: 12,544,756 (GRCm39) T256K probably damaging Het
Zfp729b A G 13: 67,740,022 (GRCm39) Y748H probably damaging Het
Zfp777 T C 6: 48,001,903 (GRCm39) E773G probably damaging 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
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
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
Posted On 2013-08-19