Incidental Mutation 'IGL02609:Htr2c'
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ID300433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr2c
Ensembl Gene ENSMUSG00000041380
Gene Name5-hydroxytryptamine (serotonin) receptor 2C
Synonyms5-HT2C receptor, SR1, 5HT1c, Htr1c, 5-HT2cR
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02609
Quality Score
Status
ChromosomeX
Chromosomal Location146962513-147197277 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 147193760 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036303] [ENSMUST00000096299] [ENSMUST00000156697]
Predicted Effect probably benign
Transcript: ENSMUST00000036303
SMART Domains Protein: ENSMUSP00000043936
Gene: ENSMUSG00000041380

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:7TM_GPCR_Srx 62 273 4.2e-7 PFAM
Pfam:7TM_GPCR_Srsx 65 384 2.8e-17 PFAM
Pfam:7tm_1 71 369 2.2e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096299
SMART Domains Protein: ENSMUSP00000094021
Gene: ENSMUSG00000041380

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:7tm_4 59 242 9.4e-9 PFAM
Pfam:7TM_GPCR_Srx 62 273 2.9e-7 PFAM
Pfam:7TM_GPCR_Srsx 65 384 2.8e-17 PFAM
Pfam:7tm_1 71 369 1.3e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156697
SMART Domains Protein: ENSMUSP00000138772
Gene: ENSMUSG00000041380

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 64 164 2.3e-6 PFAM
Pfam:7tm_1 71 156 3.6e-28 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. This gene encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in rodents show altered patterns of RNA editing in response to drug treatments and stressful situations. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hyperactivity, hyperphagia, reduced energy cost of locomotion, late-onset obesity, insulin resistance, and altered responses to cocaine. Mutants are also subject to spontaneous death from seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in Htr2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Htr2c APN X 147075925 missense probably damaging 1.00
IGL02378:Htr2c APN X 147193759 splice site probably benign
R2228:Htr2c UTSW X 147194190 missense probably damaging 1.00
R2228:Htr2c UTSW X 147194192 missense probably damaging 1.00
R4734:Htr2c UTSW X 147193797 missense probably benign 0.25
R4749:Htr2c UTSW X 147193797 missense probably benign 0.25
Posted On2015-04-16