Incidental Mutation 'R4093:Htr2a'
ID 317757
Institutional Source Beutler Lab
Gene Symbol Htr2a
Ensembl Gene ENSMUSG00000034997
Gene Name 5-hydroxytryptamine (serotonin) receptor 2A
Synonyms Htr-2, 5-HT2A receptor, Htr2
MMRRC Submission 041627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4093 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 74878314-74944299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74943789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 456 (M456I)
Ref Sequence ENSEMBL: ENSMUSP00000047774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036653]
AlphaFold P35363
Predicted Effect probably benign
Transcript: ENSMUST00000036653
AA Change: M456I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047774
Gene: ENSMUSG00000034997
AA Change: M456I

DomainStartEndE-ValueType
Pfam:7tm_4 81 264 1.2e-9 PFAM
Pfam:7TM_GPCR_Srx 82 289 1e-6 PFAM
Pfam:7TM_GPCR_Srsx 85 395 1.1e-16 PFAM
Pfam:7tm_1 91 380 5.9e-70 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 92% (69/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele show altered anxiety-related responses and increased vertical activity. Mice homozygous for a different knock-out allele exhibit abnormal enterocyte, Paneth cell and smooth muscle morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,093,996 (GRCm39) M2173V probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Angpt1 T C 15: 42,386,941 (GRCm39) T138A probably damaging Het
Atp2c2 G A 8: 120,476,610 (GRCm39) probably null Het
Cadm2 A G 16: 66,581,675 (GRCm39) V210A possibly damaging Het
Cfap70 A T 14: 20,459,181 (GRCm39) D671E probably damaging Het
Chd2 C T 7: 73,150,764 (GRCm39) E322K possibly damaging Het
Chrnd C T 1: 87,118,729 (GRCm39) Q29* probably null Het
Cip2a T C 16: 48,821,339 (GRCm39) probably benign Het
Cym A G 3: 107,121,582 (GRCm39) S237P probably benign Het
D030068K23Rik A G 8: 109,978,091 (GRCm39) noncoding transcript Het
Gsdma2 T A 11: 98,541,677 (GRCm39) S135T probably benign Het
Hc A T 2: 34,873,819 (GRCm39) Y158* probably null Het
Hoxb3 C A 11: 96,236,926 (GRCm39) H335N probably damaging Het
Ighv1-19 G A 12: 114,672,350 (GRCm39) T90I probably damaging Het
Kansl3 C A 1: 36,384,035 (GRCm39) S729I probably damaging Het
Kcnab1 T C 3: 65,207,035 (GRCm39) I137T possibly damaging Het
Kcnt1 A T 2: 25,767,927 (GRCm39) E12V probably damaging Het
Klk15 A T 7: 43,588,204 (GRCm39) S171C possibly damaging Het
Lcn2 A T 2: 32,277,728 (GRCm39) M1K probably null Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp8 T A 4: 107,700,468 (GRCm39) C135* probably null Het
Lrrc31 C A 3: 30,749,671 (GRCm39) S54I probably damaging Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Med27 G A 2: 29,267,920 (GRCm39) probably benign Het
Mical1 T C 10: 41,362,933 (GRCm39) probably benign Het
Myt1 A T 2: 181,453,191 (GRCm39) M799L probably damaging Het
Nlrc4 T C 17: 74,752,953 (GRCm39) M477V probably benign Het
Npy4r T C 14: 33,869,098 (GRCm39) I63M probably benign Het
Or2t43 A T 11: 58,457,655 (GRCm39) I172N probably damaging Het
Or52e15 C T 7: 104,645,842 (GRCm39) G90S probably benign Het
Or8b1b T A 9: 38,375,379 (GRCm39) L14Q probably null Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Piezo1 A C 8: 123,227,899 (GRCm39) probably null Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Proser1 T C 3: 53,387,133 (GRCm39) probably null Het
Psme2 A T 14: 55,825,734 (GRCm39) N143K probably benign Het
Pygo2 C A 3: 89,340,571 (GRCm39) P323Q probably damaging Het
Rab11b T C 17: 33,968,763 (GRCm39) T77A possibly damaging Het
Recql5 A G 11: 115,795,714 (GRCm39) S190P probably benign Het
Serpina12 A G 12: 104,004,183 (GRCm39) F150L probably damaging Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a2 C T 17: 12,831,281 (GRCm39) T357M probably damaging Het
Spag6l A C 16: 16,646,888 (GRCm39) N39K probably benign Het
Srl A G 16: 4,315,316 (GRCm39) S109P possibly damaging Het
Tagap A T 17: 8,148,255 (GRCm39) H152L probably damaging Het
Tbx3 T A 5: 119,818,813 (GRCm39) S463T probably benign Het
Tcaf2 A G 6: 42,619,772 (GRCm39) L85P probably damaging Het
Tenm4 A T 7: 96,544,979 (GRCm39) S2332C probably damaging Het
Trim60 A T 8: 65,454,030 (GRCm39) M73K probably benign Het
Trpc1 T C 9: 95,588,918 (GRCm39) T769A probably benign Het
Tubgcp4 T A 2: 121,025,958 (GRCm39) L601Q probably benign Het
Unc5d T C 8: 29,334,865 (GRCm39) Y154C possibly damaging Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Vmn1r57 G T 7: 5,223,856 (GRCm39) S127I possibly damaging Het
Vmn1r62 T A 7: 5,678,943 (GRCm39) M208K probably damaging Het
Vmn2r110 T C 17: 20,803,642 (GRCm39) D311G possibly damaging Het
Vmn2r48 C A 7: 9,676,185 (GRCm39) S432I probably benign Het
Vmn2r48 T A 7: 9,676,186 (GRCm39) S432C probably damaging Het
Vmn2r71 T C 7: 85,270,442 (GRCm39) V536A probably benign Het
Vstm2a A G 11: 16,209,884 (GRCm39) T37A probably damaging Het
Wfs1 T C 5: 37,124,809 (GRCm39) H694R probably damaging Het
Zdbf2 T C 1: 63,348,940 (GRCm39) S2440P possibly damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null Het
Zfp64 T C 2: 168,767,855 (GRCm39) T586A probably benign Het
Zfp943 T A 17: 22,211,963 (GRCm39) C350S probably damaging Het
Other mutations in Htr2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Htr2a APN 14 74,943,645 (GRCm39) missense possibly damaging 0.93
IGL00946:Htr2a APN 14 74,943,582 (GRCm39) nonsense probably null
IGL01660:Htr2a APN 14 74,943,194 (GRCm39) missense probably damaging 1.00
IGL02200:Htr2a APN 14 74,943,605 (GRCm39) missense probably damaging 1.00
IGL02369:Htr2a APN 14 74,943,722 (GRCm39) missense probably benign 0.17
IGL02724:Htr2a APN 14 74,882,502 (GRCm39) missense probably damaging 1.00
IGL02887:Htr2a APN 14 74,882,583 (GRCm39) missense probably benign 0.05
R0038:Htr2a UTSW 14 74,943,687 (GRCm39) missense probably benign 0.00
R0038:Htr2a UTSW 14 74,943,687 (GRCm39) missense probably benign 0.00
R0117:Htr2a UTSW 14 74,882,533 (GRCm39) missense probably damaging 1.00
R0367:Htr2a UTSW 14 74,879,649 (GRCm39) missense probably damaging 1.00
R0513:Htr2a UTSW 14 74,943,764 (GRCm39) missense probably benign 0.00
R0729:Htr2a UTSW 14 74,879,587 (GRCm39) missense probably benign
R1507:Htr2a UTSW 14 74,943,419 (GRCm39) missense probably damaging 1.00
R1522:Htr2a UTSW 14 74,943,293 (GRCm39) nonsense probably null
R1539:Htr2a UTSW 14 74,882,608 (GRCm39) missense possibly damaging 0.66
R1735:Htr2a UTSW 14 74,943,568 (GRCm39) missense probably damaging 1.00
R1747:Htr2a UTSW 14 74,943,593 (GRCm39) missense probably damaging 1.00
R1854:Htr2a UTSW 14 74,943,193 (GRCm39) missense probably damaging 1.00
R2232:Htr2a UTSW 14 74,882,469 (GRCm39) missense probably damaging 1.00
R2348:Htr2a UTSW 14 74,882,550 (GRCm39) missense probably damaging 1.00
R3154:Htr2a UTSW 14 74,943,262 (GRCm39) missense probably benign 0.00
R3401:Htr2a UTSW 14 74,882,499 (GRCm39) missense probably damaging 1.00
R4006:Htr2a UTSW 14 74,879,581 (GRCm39) missense probably benign
R4007:Htr2a UTSW 14 74,879,581 (GRCm39) missense probably benign
R4094:Htr2a UTSW 14 74,943,789 (GRCm39) missense probably benign
R4095:Htr2a UTSW 14 74,943,789 (GRCm39) missense probably benign
R4502:Htr2a UTSW 14 74,879,428 (GRCm39) missense probably benign 0.02
R4720:Htr2a UTSW 14 74,882,499 (GRCm39) missense probably damaging 1.00
R4932:Htr2a UTSW 14 74,879,462 (GRCm39) missense probably benign
R5651:Htr2a UTSW 14 74,943,143 (GRCm39) missense probably damaging 0.98
R5935:Htr2a UTSW 14 74,882,530 (GRCm39) missense probably damaging 1.00
R6175:Htr2a UTSW 14 74,882,474 (GRCm39) nonsense probably null
R6937:Htr2a UTSW 14 74,882,604 (GRCm39) missense probably damaging 0.98
R7138:Htr2a UTSW 14 74,943,182 (GRCm39) missense probably damaging 1.00
R8888:Htr2a UTSW 14 74,882,617 (GRCm39) missense possibly damaging 0.91
R9423:Htr2a UTSW 14 74,943,516 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATAGGTCCGCCTTCTCACG -3'
(R):5'- ACTCCTAGTTCAAATGCTGTCC -3'

Sequencing Primer
(F):5'- TACATTCAGTGCCAGTACAAGG -3'
(R):5'- GTCCGGACATTATAGTTGGTCCAC -3'
Posted On 2015-05-15