Incidental Mutation 'IGL02314:Htr3a'
ID287952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr3a
Ensembl Gene ENSMUSG00000032269
Gene Name5-hydroxytryptamine (serotonin) receptor 3A
Synonyms5-HT3 receptor
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02314
Quality Score
Status
Chromosome9
Chromosomal Location48899213-48911099 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 48904627 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 170 (P170L)
Ref Sequence ENSEMBL: ENSMUSP00000003826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003826] [ENSMUST00000217289]
Predicted Effect probably damaging
Transcript: ENSMUST00000003826
AA Change: P170L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003826
Gene: ENSMUSG00000032269
AA Change: P170L

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: P170L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
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 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T A 4: 47,472,143 K94* probably null Het
Axl A G 7: 25,786,920 F120L possibly damaging Het
Baz2b A G 2: 59,962,227 V519A probably benign Het
Cdk2 A T 10: 128,703,726 I99N probably damaging Het
Ces1b C A 8: 93,064,896 W358C possibly damaging Het
Clca3b A G 3: 144,828,142 probably benign Het
Col6a4 T G 9: 105,997,156 T2211P probably damaging Het
Cyp4f14 C T 17: 32,906,291 E438K probably benign Het
Dpy19l4 T A 4: 11,267,720 T407S possibly damaging Het
Dtx3 G A 10: 127,190,959 probably benign Het
Fat3 A T 9: 15,969,838 L3246H possibly damaging Het
Fat4 A T 3: 38,887,630 D224V probably damaging Het
Fndc9 A T 11: 46,238,295 I214F probably benign Het
Foxred1 A T 9: 35,205,968 I22N probably damaging Het
Gkn1 T C 6: 87,349,121 D29G probably benign Het
Gm13078 T C 4: 143,728,442 S437P probably benign Het
Gm2035 T A 12: 87,919,607 Y84F probably benign Het
Gng11 T A 6: 4,004,317 M1K probably null Het
Hdac7 T C 15: 97,809,004 D237G probably damaging Het
Hgf A G 5: 16,572,602 Y199C probably damaging Het
Hgfac A T 5: 35,041,597 M1L probably benign Het
Hsd17b6 T C 10: 127,997,908 T35A probably damaging Het
Ighv12-3 A G 12: 114,366,801 S25P probably damaging Het
Jph2 A T 2: 163,397,353 N58K probably damaging Het
Lama5 A G 2: 180,194,482 probably benign Het
Lpin3 T A 2: 160,898,718 Y394* probably null Het
Macf1 G T 4: 123,444,837 T2248K probably damaging Het
Map3k2 A G 18: 32,218,500 probably benign Het
Map4k5 G A 12: 69,818,439 P524S probably benign Het
Mcf2l C T 8: 13,001,851 S359L probably damaging Het
Mdh1b C T 1: 63,711,114 probably null Het
Mfhas1 G A 8: 35,588,773 R134H probably damaging Het
Mogs A G 6: 83,118,055 T618A probably benign Het
Mybpc2 T A 7: 44,522,388 Q39H possibly damaging Het
Myoc C T 1: 162,639,348 R29W probably damaging Het
Nae1 A G 8: 104,526,306 M162T probably damaging Het
Nfatc3 A G 8: 106,078,900 I126V probably benign Het
Nxnl2 C A 13: 51,171,529 F69L probably benign Het
Oca2 T A 7: 56,357,151 I662N probably benign Het
Odf3b T G 15: 89,378,169 K82N probably damaging Het
Olfr1151 A G 2: 87,858,056 N294D probably damaging Het
Olfr1356 A T 10: 78,847,265 S217T probably damaging Het
Olfr549 A T 7: 102,555,111 I276F probably damaging Het
Olfr872 A T 9: 20,260,478 I213L probably benign Het
Pcdhb14 G A 18: 37,450,195 E785K probably benign Het
Plb1 A C 5: 32,281,148 Y209S possibly damaging Het
Rab44 C A 17: 29,139,353 Q172K probably benign Het
Rnf214 A T 9: 45,899,807 V186E probably benign Het
Rps6ka1 C A 4: 133,850,754 G522W probably damaging Het
Samhd1 G T 2: 157,135,028 T21K probably damaging Het
Scly A G 1: 91,319,041 Y358C probably benign Het
Sfxn2 A G 19: 46,582,587 N29D possibly damaging Het
Shank2 A G 7: 144,411,271 D1451G probably benign Het
Slc44a5 G A 3: 154,256,519 S363N probably damaging Het
Smg1 A G 7: 118,154,709 probably benign Het
Tas1r3 A T 4: 155,860,662 C701S probably damaging Het
Tmem87a A G 2: 120,404,021 S14P possibly damaging Het
Trmt6 G A 2: 132,805,458 A486V probably benign Het
Ttn G A 2: 76,896,747 R1602* probably null Het
Ush2a A G 1: 188,633,629 M2227V probably benign Het
Vmn2r96 A T 17: 18,583,959 Q490H probably benign Het
Wdr19 G T 5: 65,257,120 A1279S probably benign Het
Zbtb7c G A 18: 76,145,866 R465H probably damaging Het
Zfp473 T C 7: 44,733,929 S326G probably benign Het
Other mutations in Htr3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0238:Htr3a UTSW 9 48906386 missense probably benign 0.06
R0238:Htr3a UTSW 9 48906386 missense probably benign 0.06
R0403:Htr3a UTSW 9 48908659 missense probably damaging 0.96
R0899:Htr3a UTSW 9 48901452 missense possibly damaging 0.78
R1749:Htr3a UTSW 9 48900933 missense probably damaging 1.00
R1903:Htr3a UTSW 9 48906381 missense probably damaging 1.00
R1942:Htr3a UTSW 9 48908611 missense probably damaging 1.00
R2218:Htr3a UTSW 9 48908611 missense probably damaging 1.00
R2394:Htr3a UTSW 9 48906343 missense probably benign 0.29
R2402:Htr3a UTSW 9 48901495 missense probably damaging 1.00
R3430:Htr3a UTSW 9 48907388 missense probably benign 0.35
R6042:Htr3a UTSW 9 48904699 missense probably damaging 0.99
R6395:Htr3a UTSW 9 48900571 missense probably benign 0.00
R6407:Htr3a UTSW 9 48901055 nonsense probably null
Posted On2015-04-16