Incidental Mutation 'R4720:Htr2a'
ID 354404
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 041958-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4720 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 74878314-74944299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74882499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 162 (S162T)
Ref Sequence ENSEMBL: ENSMUSP00000047774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036653]
AlphaFold P35363
Predicted Effect probably damaging
Transcript: ENSMUST00000036653
AA Change: S162T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047774
Gene: ENSMUSG00000034997
AA Change: S162T

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,018,248 (GRCm39) I1124T probably damaging Het
Acacb A G 5: 114,367,975 (GRCm39) T1658A possibly damaging Het
Acvrl1 C A 15: 101,033,654 (GRCm39) P112Q probably damaging Het
Ankar A T 1: 72,738,170 (GRCm39) I4K possibly damaging Het
Ankfn1 G C 11: 89,332,252 (GRCm39) D431E possibly damaging Het
Apobec4 T C 1: 152,632,425 (GRCm39) V151A possibly damaging Het
Atp10b A G 11: 43,093,949 (GRCm39) S498G probably benign Het
Azin1 A G 15: 38,493,744 (GRCm39) V293A probably benign Het
Ccdc88b T C 19: 6,835,083 (GRCm39) E46G probably damaging Het
Ccdc96 T C 5: 36,642,219 (GRCm39) probably benign Het
Ccnyl1 A G 1: 64,752,290 (GRCm39) D169G probably benign Het
Cdca3 T A 6: 124,809,127 (GRCm39) V89E probably damaging Het
Cdh19 A T 1: 110,823,111 (GRCm39) probably null Het
Chka G A 19: 3,936,375 (GRCm39) V238I probably damaging Het
Cntn3 T C 6: 102,218,983 (GRCm39) K546E possibly damaging Het
Crybg3 A G 16: 59,360,180 (GRCm39) V787A probably damaging Het
Dlgap3 T C 4: 127,089,508 (GRCm39) probably null Het
Dnah8 C T 17: 30,902,608 (GRCm39) L889F probably benign Het
Dnah9 T C 11: 65,967,184 (GRCm39) E1658G probably damaging Het
Dnajc11 A G 4: 152,052,996 (GRCm39) D102G probably damaging Het
Dync1i2 T G 2: 71,064,018 (GRCm39) S121A probably damaging Het
Ece1 G A 4: 137,684,486 (GRCm39) E591K probably damaging Het
Enthd1 G A 15: 80,444,510 (GRCm39) S15L probably damaging Het
Epb41l2 T A 10: 25,347,524 (GRCm39) H372Q probably damaging Het
Errfi1 T A 4: 150,951,204 (GRCm39) Y211N probably damaging Het
Fam193b G A 13: 55,691,250 (GRCm39) T208M probably benign Het
Flacc1 T C 1: 58,717,507 (GRCm39) I135V possibly damaging Het
Fmnl2 C T 2: 52,997,552 (GRCm39) T501M possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm4841 G T 18: 60,403,135 (GRCm39) D319E probably benign Het
Gucd1 A G 10: 75,345,494 (GRCm39) F187S probably damaging Het
Hcar2 GCGGATGCGCAC GC 5: 124,002,752 (GRCm39) probably null Het
Helz2 T C 2: 180,880,210 (GRCm39) D502G probably damaging Het
Hspa2 A G 12: 76,451,639 (GRCm39) E111G possibly damaging Het
Ift80 A G 3: 68,869,623 (GRCm39) Y223H possibly damaging Het
Il1rl1 A G 1: 40,485,838 (GRCm39) K330E probably benign Het
Il23r A T 6: 67,400,645 (GRCm39) F562I probably damaging Het
Isx T C 8: 75,600,487 (GRCm39) probably null Het
Jcad G A 18: 4,674,055 (GRCm39) V606I probably benign Het
Kcnn2 A T 18: 45,816,187 (GRCm39) T333S possibly damaging Het
Kcnq5 C T 1: 21,473,274 (GRCm39) A630T probably damaging Het
Kif2c T C 4: 117,028,946 (GRCm39) M188V probably benign Het
Kntc1 T C 5: 123,903,086 (GRCm39) V321A possibly damaging Het
Krtap4-8 A T 11: 99,671,271 (GRCm39) probably benign Het
Lcor G C 19: 41,574,334 (GRCm39) A1030P probably benign Het
Lgals3bp A C 11: 118,289,295 (GRCm39) L52R probably damaging Het
Lipk C A 19: 33,999,099 (GRCm39) H126Q probably damaging Het
Lpgat1 T C 1: 191,495,779 (GRCm39) Y323H probably damaging Het
Lrp2 T G 2: 69,311,517 (GRCm39) N2654H probably damaging Het
Lsm14b C T 2: 179,669,774 (GRCm39) Q6* probably null Het
Lysmd3 C T 13: 81,817,584 (GRCm39) A187V possibly damaging Het
Map2k5 A G 9: 63,201,001 (GRCm39) S211P probably damaging Het
Mlph A T 1: 90,869,419 (GRCm39) I474F probably damaging Het
Mpped2 T C 2: 106,614,091 (GRCm39) S142P probably damaging Het
Nemf A C 12: 69,371,062 (GRCm39) M678R probably benign Het
Nfe2l1 A T 11: 96,718,515 (GRCm39) Y7N probably damaging Het
Nfkbie T G 17: 45,867,232 (GRCm39) D122E probably benign Het
Noc3l C A 19: 38,778,066 (GRCm39) A783S probably benign Het
Nol8 T C 13: 49,816,229 (GRCm39) V761A probably damaging Het
Nvl A G 1: 180,929,152 (GRCm39) L743P probably damaging Het
Or1j1 T A 2: 36,702,484 (GRCm39) I207F probably benign Het
Plcb1 A G 2: 135,093,667 (GRCm39) K160R possibly damaging Het
Plekhg3 G T 12: 76,625,096 (GRCm39) G1313C possibly damaging Het
Plekhh1 GTCAAA G 12: 79,122,194 (GRCm39) probably null Het
Popdc3 G A 10: 45,191,002 (GRCm39) V38I probably benign Het
Prdx3 A T 19: 60,858,551 (GRCm39) V114D possibly damaging Het
Prkdc T A 16: 15,485,579 (GRCm39) S469T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Rims1 A G 1: 22,497,731 (GRCm39) Y808H probably damaging Het
Rsbn1 C A 3: 103,836,336 (GRCm39) T458N possibly damaging Het
Serpina3b A G 12: 104,096,889 (GRCm39) S57G possibly damaging Het
Skor2 G T 18: 76,948,878 (GRCm39) probably null Het
Slc22a4 A T 11: 53,879,719 (GRCm39) Y447N probably damaging Het
Slco1a7 C A 6: 141,668,948 (GRCm39) A495S probably damaging Het
Stx19 G T 16: 62,642,682 (GRCm39) R166L probably damaging Het
Svep1 T C 4: 58,205,869 (GRCm39) T170A possibly damaging Het
Sycp2 T G 2: 178,016,225 (GRCm39) S746R probably benign Het
Tchh G T 3: 93,355,189 (GRCm39) R1543L unknown Het
Tjp2 T C 19: 24,078,169 (GRCm39) D908G probably damaging Het
Ttc8 C A 12: 98,946,068 (GRCm39) A452E possibly damaging Het
Unc5a T A 13: 55,151,696 (GRCm39) W709R probably null Het
Unc80 T A 1: 66,549,951 (GRCm39) S736R possibly damaging Het
Vmn2r100 C A 17: 19,742,788 (GRCm39) H387Q probably benign Het
Vmn2r39 C T 7: 9,026,469 (GRCm39) probably null Het
Vmn2r88 T A 14: 51,650,702 (GRCm39) D138E probably benign Het
Vwce T C 19: 10,625,831 (GRCm39) F448L possibly damaging Het
Wdr75 C T 1: 45,861,645 (GRCm39) S695F probably benign Het
Zfand4 T C 6: 116,265,122 (GRCm39) probably null Het
Zfp511 T A 7: 139,617,424 (GRCm39) probably null Het
Zfyve9 T C 4: 108,501,565 (GRCm39) K584E 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
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
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
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'- TGAAAGTCTCTTGTAGTTCCCTTGC -3'
(R):5'- AGCCATGTGGAACGTGTCTC -3'

Sequencing Primer
(F):5'- GTAGTTCCCTTGCCTGTCAC -3'
(R):5'- CGGGAAGGGACAGACTCTAGTTTC -3'
Posted On 2015-10-21