Incidental Mutation 'R6042:Htr3a'
ID 483618
Institutional Source Beutler Lab
Gene Symbol Htr3a
Ensembl Gene ENSMUSG00000032269
Gene Name 5-hydroxytryptamine (serotonin) receptor 3A
Synonyms 5-HT3 receptor
MMRRC Submission 044210-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6042 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 48810513-48822399 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48815999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 146 (H146L)
Ref Sequence ENSEMBL: ENSMUSP00000003826 (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: H146L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003826
Gene: ENSMUSG00000032269
AA Change: H146L

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: H146L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,224,023 (GRCm39) K478M probably benign Het
Ankar G T 1: 72,713,213 (GRCm39) S474* probably null Het
Barx2 C A 9: 31,758,199 (GRCm39) E246D probably benign Het
Cdh20 A T 1: 110,065,997 (GRCm39) Q757L probably damaging Het
Cnr1 T C 4: 33,944,751 (GRCm39) F380L probably damaging Het
Cntnap5b G A 1: 100,318,317 (GRCm39) A655T probably benign Het
Col2a1 T A 15: 97,898,451 (GRCm39) probably benign Het
Crybg3 C T 16: 59,370,838 (GRCm39) R2340Q possibly damaging Het
Ctsb G T 14: 63,379,305 (GRCm39) D306Y probably damaging Het
Cyp2a22 A C 7: 26,633,664 (GRCm39) Y349D probably damaging Het
Dcpp2 T C 17: 24,117,886 (GRCm39) L22S probably damaging Het
Dnah8 G T 17: 30,966,239 (GRCm39) M2476I probably damaging Het
Dst A G 1: 34,228,053 (GRCm39) E1882G probably damaging Het
Esrp1 T C 4: 11,357,580 (GRCm39) K511E possibly damaging Het
Fat3 T A 9: 16,289,113 (GRCm39) T137S probably benign Het
Fbxw24 T A 9: 109,436,079 (GRCm39) M318L probably benign Het
Fpr-rs7 T A 17: 20,333,477 (GRCm39) T338S probably benign Het
Gcgr T C 11: 120,425,584 (GRCm39) M1T probably null Het
Grifin C A 5: 140,549,311 (GRCm39) R135L possibly damaging Het
Helz T C 11: 107,504,946 (GRCm39) probably null Het
Hivep3 C G 4: 119,955,061 (GRCm39) Q1126E possibly damaging Het
Lama3 T A 18: 12,707,311 (GRCm39) V3081E probably damaging Het
Mgat5 T A 1: 127,387,636 (GRCm39) C531S probably damaging Het
Mical2 A G 7: 111,979,619 (GRCm39) D106G probably benign Het
Nectin2 C T 7: 19,472,063 (GRCm39) A109T probably benign Het
Olig3 T C 10: 19,232,503 (GRCm39) S43P probably damaging Het
Or5an9 A T 19: 12,187,286 (GRCm39) M119L probably damaging Het
Or8b39 T A 9: 37,996,390 (GRCm39) V86E probably damaging Het
Pcdh12 T C 18: 38,414,558 (GRCm39) R856G probably damaging Het
Phpt1 T A 2: 25,464,851 (GRCm39) M1L probably benign Het
Polr2m T C 9: 71,391,080 (GRCm39) I41V probably damaging Het
Pramel28 G T 4: 143,692,631 (GRCm39) D123E probably benign Het
Pzp A G 6: 128,500,977 (GRCm39) V127A possibly damaging Het
Rgs7 G T 1: 174,977,226 (GRCm39) T126K probably damaging Het
RP23-399J5.1 T C 8: 71,542,571 (GRCm39) noncoding transcript Het
Rras A T 7: 44,669,820 (GRCm39) D112V probably damaging Het
Sdcbp2 T A 2: 151,424,646 (GRCm39) Y5* probably null Het
Slc43a2 T C 11: 75,461,433 (GRCm39) F462L probably damaging Het
Smchd1 T A 17: 71,684,052 (GRCm39) K1436* probably null Het
Snrnp27 A C 6: 86,659,902 (GRCm39) S31A unknown Het
Sqstm1 A C 11: 50,098,251 (GRCm39) F172V probably benign Het
Stk32b T A 5: 37,806,458 (GRCm39) I29F probably damaging Het
Syt10 G A 15: 89,725,824 (GRCm39) T50I probably benign Het
Syt16 T C 12: 74,313,504 (GRCm39) Y477H probably damaging Het
Tacr3 A T 3: 134,638,153 (GRCm39) T437S probably benign Het
Tg G A 15: 66,555,842 (GRCm39) D845N probably benign Het
Uqcc1 G T 2: 155,763,564 (GRCm39) S36R possibly damaging Het
Vmn1r20 T C 6: 57,409,391 (GRCm39) V239A possibly damaging Het
Xpo7 T A 14: 70,933,103 (GRCm39) Q263L possibly damaging Het
Zfp442 T C 2: 150,250,016 (GRCm39) K572E probably damaging Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R probably benign 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
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'- TGGCTTGATGAAGAGAGGATACATC -3'
(R):5'- CACAGCCTCGATAACAGTGG -3'

Sequencing Primer
(F):5'- GGATACATCCTGGCTCCCC -3'
(R):5'- CCTCGATAACAGTGGGTCAG -3'
Posted On 2017-07-14