Incidental Mutation 'IGL02378:Htr2c'
ID 291255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr2c
Ensembl Gene ENSMUSG00000041380
Gene Name 5-hydroxytryptamine (serotonin) receptor 2C
Synonyms Htr1c, 5HT1c, 5-HT2cR, 5-HT2C receptor, SR1
Accession Numbers
Essential gene? Not available question?
Stock # IGL02378
Quality Score
Status
Chromosome X
Chromosomal Location 145745509-145980273 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 145976755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036303] [ENSMUST00000096299] [ENSMUST00000156697]
AlphaFold P34968
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,080,424 (GRCm39) T414I probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acer2 A T 4: 86,804,491 (GRCm39) T69S probably benign Het
Adcy2 A G 13: 68,878,411 (GRCm39) V409A probably damaging Het
Anks3 T A 16: 4,768,626 (GRCm39) Y239F possibly damaging Het
Arhgap42 G A 9: 9,035,584 (GRCm39) H253Y possibly damaging Het
Asb18 A T 1: 89,920,710 (GRCm39) L189Q probably damaging Het
C3 T C 17: 57,519,698 (GRCm39) R1185G probably benign Het
Cdca7l T A 12: 117,835,862 (GRCm39) V66E possibly damaging Het
Cdrt4 G T 11: 62,883,534 (GRCm39) E79* probably null Het
Cep57 A C 9: 13,732,842 (GRCm39) Y34* probably null Het
Cep63 A T 9: 102,473,314 (GRCm39) probably benign Het
Clip4 T A 17: 72,144,721 (GRCm39) I516K possibly damaging Het
Dnah10 A G 5: 124,850,131 (GRCm39) E1551G probably damaging Het
Dysf T C 6: 84,088,887 (GRCm39) I843T probably damaging Het
Gabra1 C A 11: 42,031,082 (GRCm39) V283F probably damaging Het
Hcfc2 T C 10: 82,544,905 (GRCm39) I179T possibly damaging Het
Irgc G A 7: 24,131,500 (GRCm39) T439I probably benign Het
Itgae T A 11: 73,008,947 (GRCm39) L476H probably benign Het
Jarid2 A C 13: 45,067,801 (GRCm39) K1070T probably damaging Het
Lama2 A G 10: 26,919,652 (GRCm39) I2193T probably damaging Het
Med19 A G 2: 84,515,625 (GRCm39) E103G probably damaging Het
Nav1 C T 1: 135,397,716 (GRCm39) D818N probably benign Het
Nom1 G T 5: 29,656,124 (GRCm39) E830* probably null Het
Or10g9b T G 9: 39,917,769 (GRCm39) T159P probably damaging Het
Or5b98 A C 19: 12,931,747 (GRCm39) S265R probably benign Het
Orai3 G T 7: 127,369,333 (GRCm39) R58L probably damaging Het
Osbpl8 T A 10: 111,118,006 (GRCm39) M583K possibly damaging Het
Pik3cb A T 9: 98,944,893 (GRCm39) M624K probably benign Het
Rars2 G A 4: 34,656,199 (GRCm39) R451H possibly damaging Het
Rgs22 A G 15: 36,103,951 (GRCm39) L170P probably benign Het
Rps6kl1 C A 12: 85,185,448 (GRCm39) D417Y probably damaging Het
Senp6 A G 9: 80,033,674 (GRCm39) D106G probably damaging Het
Setx C T 2: 29,063,738 (GRCm39) probably benign Het
Sfswap T A 5: 129,616,668 (GRCm39) Y371N probably damaging Het
Slc24a3 C T 2: 145,360,322 (GRCm39) R141C possibly damaging Het
Sorcs1 C T 19: 50,171,109 (GRCm39) W926* probably null Het
Steap4 A G 5: 8,026,741 (GRCm39) T235A probably benign Het
Tead2 T A 7: 44,867,571 (GRCm39) probably null Het
Tll1 A T 8: 64,470,660 (GRCm39) L921* probably null Het
Tnfrsf19 T A 14: 61,208,451 (GRCm39) T357S probably benign Het
Tnik C A 3: 28,692,608 (GRCm39) S825* probably null Het
Vil1 T A 1: 74,469,850 (GRCm39) probably null Het
Vmn2r106 T C 17: 20,497,791 (GRCm39) K483E probably damaging Het
Vwa5a G A 9: 38,645,266 (GRCm39) M450I probably benign Het
Xirp2 C T 2: 67,344,112 (GRCm39) P2118S probably benign Het
Other mutations in Htr2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Htr2c APN X 145,858,921 (GRCm39) missense probably damaging 1.00
IGL02609:Htr2c APN X 145,976,756 (GRCm39) splice site probably benign
R2228:Htr2c UTSW X 145,977,188 (GRCm39) missense probably damaging 1.00
R2228:Htr2c UTSW X 145,977,186 (GRCm39) missense probably damaging 1.00
R4734:Htr2c UTSW X 145,976,793 (GRCm39) missense probably benign 0.25
R4749:Htr2c UTSW X 145,976,793 (GRCm39) missense probably benign 0.25
Posted On 2015-04-16