Incidental Mutation 'R4094:Htr2a'
ID 317824
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 041628-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4094 (G1)
Quality Score 225
Status Not 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: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,071,192 (GRCm39) C1500R probably damaging Het
Amz1 A T 5: 140,737,921 (GRCm39) M93L probably damaging Het
Asb18 A T 1: 89,942,147 (GRCm39) N51K probably damaging Het
Bcl11b G T 12: 107,883,094 (GRCm39) P335Q probably damaging Het
Bsn A C 9: 107,991,069 (GRCm39) V1561G probably damaging Het
Cadm2 A T 16: 66,679,685 (GRCm39) N49K probably damaging Het
Cct8 T G 16: 87,284,516 (GRCm39) I283L possibly damaging Het
Cdc25b A G 2: 131,031,037 (GRCm39) M121V probably benign Het
Cpne4 A G 9: 104,563,734 (GRCm39) D37G probably damaging Het
Cym A G 3: 107,121,582 (GRCm39) S237P probably benign Het
Dhx35 T A 2: 158,684,276 (GRCm39) I517N probably damaging Het
Ehf T C 2: 103,121,095 (GRCm39) probably benign Het
Erp29 A G 5: 121,590,345 (GRCm39) probably benign Het
Fgd6 C A 10: 93,879,296 (GRCm39) P50Q probably damaging Het
Fhip1b T C 7: 105,037,425 (GRCm39) D386G probably damaging Het
Foxn3 G T 12: 99,162,700 (GRCm39) D400E probably damaging Het
Frmd4a A G 2: 4,615,843 (GRCm39) Y1031C probably damaging Het
Gna13 T A 11: 109,287,242 (GRCm39) I355N probably damaging Het
Hgs T A 11: 120,359,859 (GRCm39) L21* probably null Het
Itga2 T C 13: 115,007,161 (GRCm39) D389G probably benign Het
Kdm1b T C 13: 47,216,496 (GRCm39) C289R probably damaging Het
Kdm4c T A 4: 74,229,915 (GRCm39) D237E probably benign Het
Lilrb4b A T 10: 51,357,506 (GRCm39) E114V probably damaging Het
Loxl1 G A 9: 58,219,739 (GRCm39) T144I probably damaging Het
Macf1 C T 4: 123,353,062 (GRCm39) R1784Q probably benign Het
Maml2 G A 9: 13,531,449 (GRCm39) S221N probably benign Het
Map3k1 A G 13: 111,892,696 (GRCm39) M853T possibly damaging Het
Micu3 T G 8: 40,788,929 (GRCm39) S147A probably null Het
Nccrp1 T C 7: 28,243,651 (GRCm39) Y261C possibly damaging Het
Or51aa5 T A 7: 103,167,244 (GRCm39) I116F possibly damaging Het
Or5m5 A G 2: 85,814,562 (GRCm39) Y126C probably damaging Het
Or8k18 T C 2: 86,085,674 (GRCm39) D121G probably damaging Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Pclo C A 5: 14,905,659 (GRCm39) T4963N unknown Het
Pdxk T C 10: 78,300,644 (GRCm39) H13R probably damaging Het
Plcg1 A G 2: 160,589,761 (GRCm39) E95G probably damaging Het
Ppargc1a T C 5: 51,647,406 (GRCm39) N276S possibly damaging Het
Prr12 A G 7: 44,697,371 (GRCm39) L848P unknown Het
Ptcd2 A G 13: 99,468,957 (GRCm39) I202T probably damaging Het
Rab27a A C 9: 72,982,826 (GRCm39) I44L probably damaging Het
Rbfox2 A T 15: 77,016,925 (GRCm39) S82T probably damaging Het
Rsbn1 T A 3: 103,835,974 (GRCm39) F337L probably damaging Het
Samd8 T C 14: 21,843,113 (GRCm39) I414T probably damaging Het
Sema3e A G 5: 14,283,704 (GRCm39) I478V probably benign Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc2a3 A T 6: 122,712,527 (GRCm39) I239N probably benign Het
Spc25 G A 2: 69,032,975 (GRCm39) S50L probably damaging Het
St8sia4 A T 1: 95,555,411 (GRCm39) S206R possibly damaging Het
Syngr3 G A 17: 24,908,817 (GRCm39) probably benign Het
Tigd4 A G 3: 84,501,947 (GRCm39) D288G probably damaging Het
Trim34b A G 7: 103,983,795 (GRCm39) M251V probably benign Het
Ttll5 A T 12: 86,003,376 (GRCm39) R214* probably null Het
Ttn T C 2: 76,730,860 (GRCm39) probably benign Het
Vmp1 A G 11: 86,534,406 (GRCm39) I167T probably benign 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
Zscan4f A T 7: 11,135,185 (GRCm39) N197I 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
R4093: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'- CTCCTAGTTCAAATGCTGTCCGG -3'

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