Incidental Mutation 'IGL02636:Htr5a'
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ID301507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr5a
Ensembl Gene ENSMUSG00000039106
Gene Name5-hydroxytryptamine (serotonin) receptor 5A
SynonymsHtr5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL02636
Quality Score
Status
Chromosome5
Chromosomal Location27842149-27855088 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27842660 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 71 (F71S)
Ref Sequence ENSEMBL: ENSMUSP00000038884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036227]
Predicted Effect probably damaging
Transcript: ENSMUST00000036227
AA Change: F71S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038884
Gene: ENSMUSG00000039106
AA Change: F71S

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
low complexity region 41 56 N/A INTRINSIC
Pfam:7tm_1 57 338 4.1e-71 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]
PHENOTYPE: The are conflicting reports about mice with homozygous null alleles regarding increased exploratory behavior and an abnormal exploratory behavior response to LSD. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 C A 6: 85,628,654 Q1960K probably benign Het
Arhgef40 T A 14: 51,997,408 V1056E probably damaging Het
Cdh26 T A 2: 178,449,962 F105I probably damaging Het
Cep162 A T 9: 87,248,379 D59E possibly damaging Het
Cngb3 A T 4: 19,396,690 T348S probably damaging Het
Eci3 A T 13: 34,946,980 probably null Het
Gapvd1 A G 2: 34,725,404 I409T probably benign Het
Golga2 T C 2: 32,296,723 probably null Het
Hoxd3 G A 2: 74,746,954 A393T probably benign Het
Hyou1 T C 9: 44,381,410 probably null Het
Igsf6 C A 7: 121,067,280 probably benign Het
Klrb1c C A 6: 128,788,552 C25F probably benign Het
Lrguk C A 6: 34,090,188 T483K probably damaging Het
Lrpprc A T 17: 84,753,104 probably benign Het
Lrrk1 A T 7: 66,308,659 probably null Het
Megf8 G A 7: 25,358,432 G2098D probably damaging Het
Nfkbia T C 12: 55,491,173 Q165R possibly damaging Het
Nipsnap2 A G 5: 129,745,290 probably benign Het
Phykpl C T 11: 51,598,713 T382I probably damaging Het
Prdm10 A G 9: 31,329,681 D206G possibly damaging Het
Rab26 T C 17: 24,533,559 S9G probably benign Het
Sema3e C A 5: 14,225,656 N258K probably benign Het
Slfn10-ps T A 11: 83,030,145 noncoding transcript Het
Tgm5 A T 2: 121,076,796 C149S probably damaging Het
Timp4 C T 6: 115,249,824 probably null Het
Traf7 T C 17: 24,512,990 K251E probably benign Het
Ugcg G T 4: 59,207,763 R34L possibly damaging Het
Unc13d T C 11: 116,073,618 H300R probably damaging Het
Vmn1r20 G T 6: 57,431,761 C24F probably benign Het
Vmn2r13 T C 5: 109,192,017 R31G probably damaging Het
Vsig10l A G 7: 43,463,578 T87A possibly damaging Het
Zfp353-ps T A 8: 42,082,440 noncoding transcript Het
Other mutations in Htr5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Htr5a APN 5 27842744 missense probably benign 0.41
IGL02164:Htr5a APN 5 27842465 missense probably damaging 1.00
IGL02552:Htr5a APN 5 27842960 missense probably benign 0.00
R1023:Htr5a UTSW 5 27842998 missense possibly damaging 0.81
R1998:Htr5a UTSW 5 27850889 missense possibly damaging 0.95
R1999:Htr5a UTSW 5 27850889 missense possibly damaging 0.95
R2000:Htr5a UTSW 5 27850889 missense possibly damaging 0.95
R4134:Htr5a UTSW 5 27842692 missense probably benign 0.01
R4135:Htr5a UTSW 5 27842692 missense probably benign 0.01
R5378:Htr5a UTSW 5 27850995 missense probably damaging 1.00
R5421:Htr5a UTSW 5 27850987 missense possibly damaging 0.81
R6440:Htr5a UTSW 5 27850872 missense probably damaging 1.00
R7571:Htr5a UTSW 5 27842895 nonsense probably null
RF009:Htr5a UTSW 5 27842861 missense probably damaging 1.00
Posted On2015-04-16