Incidental Mutation 'IGL00946:Htr2a'
ID 28958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr2a
Ensembl Gene ENSMUSG00000034997
Gene Name 5-hydroxytryptamine (serotonin) receptor 2A
Synonyms Htr-2, 5-HT2A receptor, Htr2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL00946
Quality Score
Status
Chromosome 14
Chromosomal Location 74878314-74944299 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 74943582 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P35363
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: 132,790,373 (GRCm39) I538T probably benign Het
Bmp10 A T 6: 87,411,344 (GRCm39) Q379L probably damaging Het
Cacna2d4 G A 6: 119,248,876 (GRCm39) A446T possibly damaging Het
Chrdl1 G A X: 142,077,164 (GRCm39) probably benign Het
Crtc2 A G 3: 90,168,112 (GRCm39) H370R probably damaging Het
Cubn T C 2: 13,461,434 (GRCm39) T698A probably damaging Het
Deup1 T C 9: 15,472,534 (GRCm39) T593A possibly damaging Het
Dus1l T C 11: 120,684,701 (GRCm39) T157A probably damaging Het
Efcab6 T C 15: 83,902,897 (GRCm39) N151S probably benign Het
Eif2b5 T A 16: 20,324,002 (GRCm39) H448Q probably benign Het
Epha8 T C 4: 136,673,121 (GRCm39) D221G probably damaging Het
Eprs1 G A 1: 185,139,898 (GRCm39) G996S probably benign Het
Fn1 G A 1: 71,684,699 (GRCm39) probably benign Het
Gfpt1 A G 6: 87,027,924 (GRCm39) Y10C probably damaging Het
Ghitm C T 14: 36,847,203 (GRCm39) M290I probably benign Het
Gpd2 T C 2: 57,158,096 (GRCm39) probably null Het
Lrrc7 T A 3: 157,866,993 (GRCm39) Q916L probably benign Het
Mfsd9 A C 1: 40,812,940 (GRCm39) D458E probably benign Het
Nmb T C 7: 80,552,208 (GRCm39) I123M probably benign Het
Nrap A T 19: 56,329,058 (GRCm39) probably null Het
Or10j7 A T 1: 173,011,190 (GRCm39) D270E probably benign Het
Or4d5 A G 9: 40,012,450 (GRCm39) I112T probably benign Het
Or4k49 T A 2: 111,495,489 (GRCm39) M306K probably benign Het
Pola1 T C X: 92,524,145 (GRCm39) I1165M probably benign Het
Sdk1 G T 5: 142,070,368 (GRCm39) probably null Het
Selenon T A 4: 134,267,037 (GRCm39) probably benign Het
Stk39 T A 2: 68,144,908 (GRCm39) T389S possibly damaging Het
Tmx3 A G 18: 90,558,178 (GRCm39) E410G possibly damaging Het
Utp20 A T 10: 88,584,177 (GRCm39) V2660E possibly damaging Het
Vps52 T C 17: 34,175,932 (GRCm39) L40P possibly damaging Het
Wdr25 C T 12: 108,990,953 (GRCm39) S380F possibly damaging Het
Xpo7 T C 14: 70,909,098 (GRCm39) T808A probably benign Het
Zc3h14 T C 12: 98,726,142 (GRCm39) probably benign Het
Other mutations in Htr2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Htr2a APN 14 74,943,645 (GRCm39) missense possibly damaging 0.93
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
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
Posted On 2013-04-17