Incidental Mutation 'IGL00946:Htr2a'
ID28958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr2a
Ensembl Gene ENSMUSG00000034997
Gene Name5-hydroxytryptamine (serotonin) receptor 2A
SynonymsHtr2, 5-HT2A receptor, Htr-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL00946
Quality Score
Status
Chromosome14
Chromosomal Location74640840-74709494 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 74706142 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 387 (Y387*)
Ref Sequence ENSEMBL: ENSMUSP00000047774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036653]
Predicted Effect probably null
Transcript: ENSMUST00000036653
AA Change: Y387*
SMART Domains Protein: ENSMUSP00000047774
Gene: ENSMUSG00000034997
AA Change: Y387*

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T C 4: 133,063,062 I538T probably benign Het
Bmp10 A T 6: 87,434,362 Q379L probably damaging Het
Cacna2d4 G A 6: 119,271,915 A446T possibly damaging Het
Chrdl1 G A X: 143,294,168 probably benign Het
Crtc2 A G 3: 90,260,805 H370R probably damaging Het
Cubn T C 2: 13,456,623 T698A probably damaging Het
Deup1 T C 9: 15,561,238 T593A possibly damaging Het
Dus1l T C 11: 120,793,875 T157A probably damaging Het
Efcab6 T C 15: 84,018,696 N151S probably benign Het
Eif2b5 T A 16: 20,505,252 H448Q probably benign Het
Epha8 T C 4: 136,945,810 D221G probably damaging Het
Eprs G A 1: 185,407,701 G996S probably benign Het
Fn1 G A 1: 71,645,540 probably benign Het
Gfpt1 A G 6: 87,050,942 Y10C probably damaging Het
Ghitm C T 14: 37,125,246 M290I probably benign Het
Gpd2 T C 2: 57,268,084 probably null Het
Lrrc7 T A 3: 158,161,356 Q916L probably benign Het
Mfsd9 A C 1: 40,773,780 D458E probably benign Het
Nmb T C 7: 80,902,460 I123M probably benign Het
Nrap A T 19: 56,340,626 probably null Het
Olfr1299 T A 2: 111,665,144 M306K probably benign Het
Olfr1406 A T 1: 173,183,623 D270E probably benign Het
Olfr984 A G 9: 40,101,154 I112T probably benign Het
Pola1 T C X: 93,480,539 I1165M probably benign Het
Sdk1 G T 5: 142,084,613 probably null Het
Selenon T A 4: 134,539,726 probably benign Het
Stk39 T A 2: 68,314,564 T389S possibly damaging Het
Tmx3 A G 18: 90,540,054 E410G possibly damaging Het
Utp20 A T 10: 88,748,315 V2660E possibly damaging Het
Vps52 T C 17: 33,956,958 L40P possibly damaging Het
Wdr25 C T 12: 109,025,027 S380F possibly damaging Het
Xpo7 T C 14: 70,671,658 T808A probably benign Het
Zc3h14 T C 12: 98,759,883 probably benign Het
Other mutations in Htr2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Htr2a APN 14 74706205 missense possibly damaging 0.93
IGL01660:Htr2a APN 14 74705754 missense probably damaging 1.00
IGL02200:Htr2a APN 14 74706165 missense probably damaging 1.00
IGL02369:Htr2a APN 14 74706282 missense probably benign 0.17
IGL02724:Htr2a APN 14 74645062 missense probably damaging 1.00
IGL02887:Htr2a APN 14 74645143 missense probably benign 0.05
R0038:Htr2a UTSW 14 74706247 missense probably benign 0.00
R0038:Htr2a UTSW 14 74706247 missense probably benign 0.00
R0117:Htr2a UTSW 14 74645093 missense probably damaging 1.00
R0367:Htr2a UTSW 14 74642209 missense probably damaging 1.00
R0513:Htr2a UTSW 14 74706324 missense probably benign 0.00
R0729:Htr2a UTSW 14 74642147 missense probably benign
R1507:Htr2a UTSW 14 74705979 missense probably damaging 1.00
R1522:Htr2a UTSW 14 74705853 nonsense probably null
R1539:Htr2a UTSW 14 74645168 missense possibly damaging 0.66
R1735:Htr2a UTSW 14 74706128 missense probably damaging 1.00
R1747:Htr2a UTSW 14 74706153 missense probably damaging 1.00
R1854:Htr2a UTSW 14 74705753 missense probably damaging 1.00
R2232:Htr2a UTSW 14 74645029 missense probably damaging 1.00
R2348:Htr2a UTSW 14 74645110 missense probably damaging 1.00
R3154:Htr2a UTSW 14 74705822 missense probably benign 0.00
R3401:Htr2a UTSW 14 74645059 missense probably damaging 1.00
R4006:Htr2a UTSW 14 74642141 missense probably benign
R4007:Htr2a UTSW 14 74642141 missense probably benign
R4093:Htr2a UTSW 14 74706349 missense probably benign
R4094:Htr2a UTSW 14 74706349 missense probably benign
R4095:Htr2a UTSW 14 74706349 missense probably benign
R4502:Htr2a UTSW 14 74641988 missense probably benign 0.02
R4720:Htr2a UTSW 14 74645059 missense probably damaging 1.00
R4932:Htr2a UTSW 14 74642022 missense probably benign
R5651:Htr2a UTSW 14 74705703 missense probably damaging 0.98
R5935:Htr2a UTSW 14 74645090 missense probably damaging 1.00
R6175:Htr2a UTSW 14 74645034 nonsense probably null
R6937:Htr2a UTSW 14 74645164 missense probably damaging 0.98
R7138:Htr2a UTSW 14 74705742 missense probably damaging 1.00
Posted On2013-04-17