Incidental Mutation 'R4135:Htr5a'
ID314840
Institutional Source Beutler Lab
Gene Symbol Htr5a
Ensembl Gene ENSMUSG00000039106
Gene Name5-hydroxytryptamine (serotonin) receptor 5A
SynonymsHtr5
MMRRC Submission 040995-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #R4135 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location27842149-27855088 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27842692 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 82 (M82V)
Ref Sequence ENSEMBL: ENSMUSP00000038884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036227]
Predicted Effect probably benign
Transcript: ENSMUST00000036227
AA Change: M82V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000038884
Gene: ENSMUSG00000039106
AA Change: M82V

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
Meta Mutation Damage Score 0.2139 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T A 1: 160,077,522 probably benign Het
9230110F15Rik A G 9: 35,839,428 S33P possibly damaging Het
Bak1 T A 17: 27,021,270 T148S possibly damaging Het
Cdc25a C A 9: 109,881,517 H157Q possibly damaging Het
Chst5 T C 8: 111,890,184 Y268C probably damaging Het
Csnk1g2 T C 10: 80,638,296 I145T possibly damaging Het
Ctsr T C 13: 61,161,270 T224A probably benign Het
Cux1 T C 5: 136,307,896 K921E probably damaging Het
Dcaf12l1 T C X: 44,789,453 N156S probably damaging Het
Dennd2d T A 3: 106,482,661 D2E probably benign Het
Dock2 T C 11: 34,714,501 K264E possibly damaging Het
Eif3c C G 7: 126,566,299 probably benign Het
Gabrb3 G T 7: 57,591,288 A5S probably benign Het
Gcnt2 T A 13: 40,887,807 N147K probably damaging Het
Gm14139 A T 2: 150,181,868 probably benign Het
Gm6987 T A X: 94,024,610 noncoding transcript Het
Hbp1 A T 12: 31,934,422 L262Q probably damaging Het
Hsd11b2 T C 8: 105,523,166 V303A probably benign Het
Mcc T C 18: 44,724,640 D136G probably benign Het
Mrpl32 C T 13: 14,612,979 V14M probably damaging Het
Msl1 A G 11: 98,796,300 D157G possibly damaging Het
Mthfd1 G A 12: 76,282,874 probably null Het
Nkx6-1 T A 5: 101,659,505 D337V probably damaging Het
Nlrp5 T C 7: 23,418,398 W516R possibly damaging Het
Olfr131 A G 17: 38,082,357 V207A possibly damaging Het
Olfr168 T A 16: 19,530,702 I73F possibly damaging Het
Olfr312 C A 11: 58,831,994 T280K probably damaging Het
Olfr705 A G 7: 106,714,003 L226P probably damaging Het
Olfr723 T C 14: 49,928,815 H243R probably damaging Het
Pold3 T A 7: 100,100,647 R104* probably null Het
Rapsn A T 2: 91,036,817 N155Y probably damaging Het
Rorc C A 3: 94,389,519 Q269K probably damaging Het
Rreb1 A T 13: 37,947,123 N1418Y probably damaging Het
Rusc2 G A 4: 43,425,563 D1223N possibly damaging Het
Sema6d T C 2: 124,664,120 I616T probably damaging Het
Ttc6 T A 12: 57,632,795 probably benign Het
Ugt3a2 A T 15: 9,338,724 Y58F probably damaging Het
Vmn2r-ps159 T G 4: 156,338,790 noncoding transcript Het
Vwa5b1 A T 4: 138,594,330 M384K possibly damaging Het
Washc3 G A 10: 88,219,280 E111K probably benign Het
Xirp2 A G 2: 67,525,397 S3501G probably benign Het
Zfp352 C T 4: 90,225,024 T467M probably damaging Het
Zfp729a C A 13: 67,619,806 C768F probably damaging Het
Zfp810 T C 9: 22,279,073 K180E probably damaging 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
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
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
R7992:Htr5a UTSW 5 27850997 missense probably damaging 1.00
RF009:Htr5a UTSW 5 27842861 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTGTAAACTTGACCTCC -3'
(R):5'- GTGATTGACCAGTAGCGGTC -3'

Sequencing Primer
(F):5'- TTGGAACCTAACCGCAGCTTG -3'
(R):5'- CAGTAGCGGTCCAGAGCTATTG -3'
Posted On2015-05-14