Incidental Mutation 'IGL02887:Htr2a'
ID 363828
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 # IGL02887
Quality Score
Status
Chromosome 14
Chromosomal Location 74878314-74944299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74882583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 190 (T190A)
Ref Sequence ENSEMBL: ENSMUSP00000047774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036653]
AlphaFold P35363
Predicted Effect probably benign
Transcript: ENSMUST00000036653
AA Change: T190A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000047774
Gene: ENSMUSG00000034997
AA Change: T190A

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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,168 (GRCm39) Y69H probably damaging Het
Afap1l2 A T 19: 56,908,995 (GRCm39) S310R probably damaging Het
Aldh7a1 A G 18: 56,675,288 (GRCm39) probably benign Het
Anxa8 T A 14: 33,818,481 (GRCm39) probably null Het
Ap1ar T C 3: 127,602,192 (GRCm39) E282G probably damaging Het
Arl6ip6 T G 2: 53,092,939 (GRCm39) S155A probably benign Het
Armc9 T C 1: 86,092,557 (GRCm39) F107S probably damaging Het
Ash1l C A 3: 88,891,488 (GRCm39) D1122E probably benign Het
Atp2b4 T A 1: 133,656,512 (GRCm39) I713F probably damaging Het
BC005624 A C 2: 30,863,317 (GRCm39) probably benign Het
Calcrl T C 2: 84,169,586 (GRCm39) D365G probably benign Het
Ccdc110 A G 8: 46,396,221 (GRCm39) N704S probably benign Het
Ccr10 G T 11: 101,065,492 (GRCm39) L13I probably benign Het
Cfap52 A G 11: 67,844,341 (GRCm39) Y125H probably damaging Het
Cnr2 C A 4: 135,644,936 (GRCm39) T338K possibly damaging Het
Cntn2 T A 1: 132,444,308 (GRCm39) D935V probably damaging Het
Cog7 T C 7: 121,543,067 (GRCm39) K448R possibly damaging Het
Csnk1g2 G A 10: 80,474,369 (GRCm39) D197N probably damaging Het
Cyp2e1 T A 7: 140,343,824 (GRCm39) S21T probably damaging Het
Dcaf11 T C 14: 55,801,592 (GRCm39) F187L probably damaging Het
Dmd T A X: 82,922,110 (GRCm39) F1460Y probably benign Het
Dnah11 G A 12: 117,874,775 (GRCm39) A4030V probably damaging Het
Dnah7a A G 1: 53,561,519 (GRCm39) V2046A possibly damaging Het
Dnajc6 T C 4: 101,496,497 (GRCm39) I820T probably damaging Het
Dsel T C 1: 111,788,462 (GRCm39) D691G possibly damaging Het
Fbp1 T A 13: 63,016,894 (GRCm39) M203L probably benign Het
Fndc1 T C 17: 7,992,470 (GRCm39) T409A unknown Het
Golgb1 T G 16: 36,746,211 (GRCm39) L2930R probably damaging Het
Klra4 C T 6: 130,021,033 (GRCm39) C254Y probably damaging Het
Large1 A T 8: 73,858,667 (GRCm39) V67E probably benign Het
Lins1 T C 7: 66,363,931 (GRCm39) S609P probably damaging Het
Magi3 T C 3: 104,002,473 (GRCm39) E156G probably damaging Het
Mdh1b A G 1: 63,754,523 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,748,037 (GRCm39) D276G probably benign Het
Myh9 T A 15: 77,680,220 (GRCm39) K185* probably null Het
Myof T C 19: 37,909,227 (GRCm39) probably null Het
Naip2 T G 13: 100,298,020 (GRCm39) Y672S possibly damaging Het
Nbeal1 A G 1: 60,326,603 (GRCm39) probably benign Het
Nbeal2 T A 9: 110,457,344 (GRCm39) H2273L probably damaging Het
Neb T C 2: 52,090,733 (GRCm39) K1346E possibly damaging Het
Nfatc2 T C 2: 168,346,370 (GRCm39) D908G probably damaging Het
Nlgn2 T C 11: 69,718,080 (GRCm39) N375S probably benign Het
Nova1 G T 12: 46,767,505 (GRCm39) Q139K unknown Het
Opa3 A T 7: 18,962,507 (GRCm39) Q47L probably damaging Het
Or10g7 T A 9: 39,905,109 (GRCm39) M1K probably null Het
Or2t47 A G 11: 58,442,987 (GRCm39) L26P probably damaging Het
Or6c205 T A 10: 129,086,794 (GRCm39) Y130* probably null Het
Pacs1 A T 19: 5,185,138 (GRCm39) probably benign Het
Pappa2 T A 1: 158,609,829 (GRCm39) H1544L probably damaging Het
Pax8 A G 2: 24,334,627 (GRCm39) S48P probably damaging Het
Pdilt T C 7: 119,097,272 (GRCm39) N70S possibly damaging Het
Poldip3 T C 15: 83,013,469 (GRCm39) probably benign Het
Ppp6r1 T A 7: 4,645,211 (GRCm39) I80F probably damaging Het
Pycr2 T A 1: 180,732,304 (GRCm39) probably null Het
Rapgef2 C T 3: 78,976,187 (GRCm39) probably benign Het
Rbm44 T A 1: 91,080,902 (GRCm39) D363E probably damaging Het
Rnf213 A T 11: 119,318,336 (GRCm39) I1046F probably damaging Het
Ryr2 A G 13: 11,606,155 (GRCm39) S4476P probably damaging Het
Scara5 G A 14: 66,000,278 (GRCm39) D483N unknown Het
Scmh1 T A 4: 120,325,586 (GRCm39) F101Y probably damaging Het
Sgo2a T A 1: 58,055,511 (GRCm39) V565E probably damaging Het
Simc1 T C 13: 54,673,071 (GRCm39) M473T probably benign Het
Skint6 T A 4: 113,095,381 (GRCm39) R93* probably null Het
Skint7 T C 4: 111,839,375 (GRCm39) V223A possibly damaging Het
Slc25a2 T C 18: 37,770,939 (GRCm39) I197V probably benign Het
Slit2 A G 5: 48,374,816 (GRCm39) T361A probably benign Het
Sugp1 G A 8: 70,522,776 (GRCm39) G492D probably damaging Het
Svep1 C T 4: 58,145,301 (GRCm39) G388D probably damaging Het
Tbpl2 G T 2: 23,983,888 (GRCm39) A183E probably damaging Het
Tcerg1l G T 7: 137,831,619 (GRCm39) P453T probably damaging Het
Tdpoz2 T C 3: 93,559,046 (GRCm39) T309A probably benign Het
Thbs4 T A 13: 92,927,306 (GRCm39) Y61F probably benign Het
Tmem117 C A 15: 94,992,656 (GRCm39) P439T probably damaging Het
Tmem151a A G 19: 5,132,993 (GRCm39) V71A probably benign Het
Tmem268 G T 4: 63,486,691 (GRCm39) probably benign Het
Tmem43 T A 6: 91,454,356 (GRCm39) Y48N possibly damaging Het
Tmigd1 T C 11: 76,804,812 (GRCm39) V217A probably benign Het
Tmprss11g A T 5: 86,645,188 (GRCm39) probably benign Het
Tsn T C 1: 118,237,551 (GRCm39) I38V probably benign Het
Ttc41 A T 10: 86,569,518 (GRCm39) Y632F probably damaging Het
Vmn2r117 C T 17: 23,694,552 (GRCm39) probably benign Het
Vmn2r12 A T 5: 109,238,351 (GRCm39) I463N probably benign Het
Wdsub1 T A 2: 59,683,176 (GRCm39) N466I probably damaging Het
Zdhhc21 A T 4: 82,762,427 (GRCm39) I56N probably benign Het
Zfand4 A G 6: 116,250,617 (GRCm39) T16A possibly damaging Het
Zmym4 T C 4: 126,842,268 (GRCm39) E15G probably 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
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 2015-12-18