Incidental Mutation 'R4006:Htr2a'
ID 311490
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 040845-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4006 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 74878314-74944299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74879581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 70 (H70L)
Ref Sequence ENSEMBL: ENSMUSP00000047774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036653]
AlphaFold P35363
Predicted Effect probably benign
Transcript: ENSMUST00000036653
AA Change: H70L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047774
Gene: ENSMUSG00000034997
AA Change: H70L

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 0.0658 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,600 (GRCm39) probably null Het
Ano4 C A 10: 88,924,125 (GRCm39) V329L probably benign Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cimip1 T C 2: 173,367,880 (GRCm39) probably null Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Fbln2 C A 6: 91,246,943 (GRCm39) probably null Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or5e1 C T 7: 108,354,468 (GRCm39) T135I probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Prkcg G A 7: 3,375,983 (GRCm39) V492I probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I possibly 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
R4007:Htr2a UTSW 14 74,879,581 (GRCm39) missense probably benign
R4093:Htr2a UTSW 14 74,943,789 (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'- CAACTTCCGGCTTAGACATGG -3'
(R):5'- TAACATGGACACGGGCATGAC -3'

Sequencing Primer
(F):5'- CCGGCTTAGACATGGAAATTCTCTG -3'
(R):5'- CGGGCATGACAAGGAAACCC -3'
Posted On 2015-04-29