Incidental Mutation 'IGL01318:Htr5a'
ID73932
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: 0.118) question?
Stock #IGL01318
Quality Score
Status
Chromosome5
Chromosomal Location27842149-27855088 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27842744 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 99 (V99A)
Ref Sequence ENSEMBL: ENSMUSP00000038884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036227]
Predicted Effect probably benign
Transcript: ENSMUST00000036227
AA Change: V99A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038884
Gene: ENSMUSG00000039106
AA Change: V99A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik T A X: 58,919,469 I196N probably damaging Het
Alg10b T C 15: 90,228,389 probably benign Het
Ambn T C 5: 88,460,695 probably benign Het
Asap2 A G 12: 21,247,295 D585G probably null Het
Chaf1a G T 17: 56,059,336 probably benign Het
Ddhd1 A G 14: 45,616,551 S443P probably damaging Het
Dlk2 A G 17: 46,302,464 E215G probably damaging Het
Efhd2 T C 4: 141,859,865 N202S probably benign Het
Fam208b A C 13: 3,575,067 S946A possibly damaging Het
Gkap1 A T 13: 58,237,039 I308K probably damaging Het
Gm14025 C A 2: 129,038,702 V435L probably benign Het
Gm9848 T A 13: 113,108,240 noncoding transcript Het
Hmcn1 G A 1: 150,719,240 T1826I probably damaging Het
Inha T G 1: 75,509,928 F289C probably damaging Het
Kcna3 T C 3: 107,037,978 V519A probably benign Het
Kcnma1 A T 14: 23,314,322 probably benign Het
Kctd1 A G 18: 15,062,690 V292A possibly damaging Het
Map2k4 A G 11: 65,756,263 probably benign Het
Mfap2 G T 4: 141,015,545 A175S possibly damaging Het
Milr1 G A 11: 106,765,245 A114T possibly damaging Het
Mogs G T 6: 83,118,577 V792F probably damaging Het
Nt5dc3 T A 10: 86,825,225 M418K possibly damaging Het
Olfr1098 A T 2: 86,922,949 N194K probably benign Het
Olfr1448 A G 19: 12,920,126 L61P probably damaging Het
Olfr77 A G 9: 19,920,758 E183G probably benign Het
Osbpl10 G A 9: 115,232,122 W756* probably null Het
Pgam5 A G 5: 110,265,525 Y235H probably damaging Het
Pgm5 G T 19: 24,816,478 A274E probably damaging Het
Prex1 C A 2: 166,569,340 probably benign Het
Prps1l1 A T 12: 34,985,378 N164I probably benign Het
Ralbp1 C A 17: 65,864,282 R232L probably damaging Het
Rnaseh2a C T 8: 84,965,123 probably benign Het
Stard9 A T 2: 120,698,719 H1819L possibly damaging Het
Stom T A 2: 35,336,877 I15F probably benign Het
Tph1 T G 7: 46,665,238 T22P probably damaging Het
Uqcrfs1 A G 13: 30,540,921 I212T probably benign Het
Ush2a T C 1: 188,814,353 I3442T probably benign Het
Vmn2r113 A G 17: 22,958,335 I698V probably benign Het
Vmn2r75 T C 7: 86,165,566 I240V probably benign Het
Wdr17 T C 8: 54,672,550 T432A probably damaging Het
Other mutations in Htr5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Htr5a APN 5 27842465 missense probably damaging 1.00
IGL02552:Htr5a APN 5 27842960 missense probably benign 0.00
IGL02636:Htr5a APN 5 27842660 missense probably damaging 1.00
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 On2013-10-07