Incidental Mutation 'IGL02200:Htr2a'
ID284161
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: 0.082) question?
Stock #IGL02200
Quality Score
Status
Chromosome14
Chromosomal Location74640840-74709494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 74706165 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 395 (I395N)
Ref Sequence ENSEMBL: ENSMUSP00000047774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036653]
Predicted Effect probably damaging
Transcript: ENSMUST00000036653
AA Change: I395N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047774
Gene: ENSMUSG00000034997
AA Change: I395N

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,069,014 E207G probably benign Het
Ahi1 T C 10: 20,981,314 probably benign Het
Ankrd26 A T 6: 118,559,341 V97E probably damaging Het
Cadps2 T C 6: 23,385,528 Y736C probably damaging Het
Cdon T C 9: 35,483,109 W884R probably benign Het
Cflar A G 1: 58,752,669 D380G probably damaging Het
Clca3a1 A T 3: 144,751,929 probably benign Het
Clca3b A G 3: 144,841,429 S316P probably damaging Het
Crispld1 T C 1: 17,750,333 probably benign Het
Diaph1 G A 18: 37,890,682 P701L unknown Het
Dip2b T C 15: 100,151,202 L159P possibly damaging Het
Dock1 A G 7: 134,744,271 T181A probably benign Het
Ear1 C T 14: 43,819,252 R53H probably benign Het
Gm1840 A G 8: 5,639,968 noncoding transcript Het
Gm2663 A G 6: 40,996,013 V220A probably benign Het
Grik1 A G 16: 87,940,565 F614L probably damaging Het
Itsn2 A G 12: 4,636,632 D528G probably damaging Het
Kdr T C 5: 75,950,102 probably benign Het
M6pr A G 6: 122,315,068 M120V probably benign Het
Mettl13 G A 1: 162,538,823 probably benign Het
Mtfmt A G 9: 65,448,781 probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Ogfrl1 C T 1: 23,370,069 V359I probably benign Het
Olfr583 C T 7: 103,051,793 T165I probably benign Het
Ovch2 T C 7: 107,794,823 Y141C probably damaging Het
Pwwp2a A C 11: 43,706,128 I432L possibly damaging Het
Ryr3 C T 2: 112,849,510 V1245M probably damaging Het
Sis T C 3: 72,943,604 H587R probably damaging Het
Snrnp40 A G 4: 130,360,221 K6E probably damaging Het
Snx13 A T 12: 35,086,885 D115V probably damaging Het
Sohlh2 C A 3: 55,190,556 T143K probably damaging Het
Spag4 T C 2: 156,066,597 L55S probably benign Het
Tcrg-C2 T C 13: 19,307,351 probably benign Het
Vmn2r77 T C 7: 86,801,979 S358P probably benign Het
Other mutations in Htr2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Htr2a APN 14 74706205 missense possibly damaging 0.93
IGL00946:Htr2a APN 14 74706142 nonsense probably null
IGL01660:Htr2a APN 14 74705754 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 On2015-04-16