Incidental Mutation 'IGL02024:Htr2c'
ID 184087
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 # IGL02024
Quality Score
Status
Chromosome X
Chromosomal Location 145745509-145980273 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145858921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 77 (M77K)
Ref Sequence ENSEMBL: ENSMUSP00000094021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036303] [ENSMUST00000096299] [ENSMUST00000112831] [ENSMUST00000156697]
AlphaFold P34968
Predicted Effect probably damaging
Transcript: ENSMUST00000036303
AA Change: M77K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043936
Gene: ENSMUSG00000041380
AA Change: M77K

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 damaging
Transcript: ENSMUST00000096299
AA Change: M77K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094021
Gene: ENSMUSG00000041380
AA Change: M77K

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 damaging
Transcript: ENSMUST00000112831
AA Change: M77K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108450
Gene: ENSMUSG00000041380
AA Change: M77K

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 64 155 2e-6 PFAM
Pfam:7tm_1 71 153 1.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134368
Predicted Effect probably damaging
Transcript: ENSMUST00000156697
AA Change: M77K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138772
Gene: ENSMUSG00000041380
AA Change: M77K

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,113,705 (GRCm39) H246Y probably damaging Het
Abat G A 16: 8,429,000 (GRCm39) A322T probably damaging Het
Bcat1 A G 6: 144,978,564 (GRCm39) V152A probably damaging Het
Btaf1 A G 19: 36,969,826 (GRCm39) probably benign Het
Elavl2 T C 4: 91,141,776 (GRCm39) T291A probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Fcgbp G A 7: 27,805,799 (GRCm39) C2026Y probably damaging Het
Fcgrt T A 7: 44,744,682 (GRCm39) H258L probably damaging Het
Galnt6 C T 15: 100,601,374 (GRCm39) D302N probably benign Het
Gldc T A 19: 30,078,227 (GRCm39) R923S probably damaging Het
Hspg2 G T 4: 137,267,384 (GRCm39) A2033S probably damaging Het
Ifi208 A G 1: 173,510,856 (GRCm39) Y337C probably damaging Het
Ints11 G T 4: 155,972,972 (GRCm39) W554L probably damaging Het
Itgbl1 T A 14: 124,094,904 (GRCm39) C186S probably damaging Het
Lipf A G 19: 33,953,995 (GRCm39) Y362C probably damaging Het
Map2k7 T A 8: 4,297,663 (GRCm39) S421R possibly damaging Het
Mroh9 T G 1: 162,890,071 (GRCm39) N222T possibly damaging Het
Msl3 C A X: 167,453,247 (GRCm39) R89L probably benign Het
Nrip1 T A 16: 76,088,563 (GRCm39) D998V probably benign Het
Nrk T A X: 137,896,678 (GRCm39) I1265N probably damaging Het
Ntn5 A G 7: 45,340,830 (GRCm39) probably benign Het
Or11g27 A G 14: 50,771,307 (GRCm39) N146S probably benign Het
Or5w20 A T 2: 87,727,243 (GRCm39) R233S possibly damaging Het
Or6s1 T G 14: 51,308,766 (GRCm39) E28A probably benign Het
Plch2 T C 4: 155,127,595 (GRCm39) probably benign Het
Porcn C T X: 8,067,901 (GRCm39) V233I probably benign Het
Ppp2r2a T C 14: 67,276,361 (GRCm39) K48R probably benign Het
Ppp4r3c1 G A X: 88,975,129 (GRCm39) T356I probably benign Het
Rccd1 A T 7: 79,968,755 (GRCm39) D268E probably benign Het
Sacs C A 14: 61,427,127 (GRCm39) S178R probably damaging Het
Samd12 T A 15: 53,521,862 (GRCm39) D116V probably damaging Het
Slc12a8 A G 16: 33,428,568 (GRCm39) E46G probably damaging Het
Slc30a10 A T 1: 185,187,438 (GRCm39) I60F possibly damaging Het
Slc6a8 C T X: 72,722,583 (GRCm39) probably benign Het
Sos2 A G 12: 69,664,822 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,783,338 (GRCm39) V79A probably benign Het
Tmem184c A T 8: 78,331,443 (GRCm39) V102E probably benign Het
Ttc19 G T 11: 62,203,939 (GRCm39) R300I probably damaging Het
Unc5d T A 8: 29,142,855 (GRCm39) I866F probably benign Het
Vmn1r7 A T 6: 57,001,874 (GRCm39) C129S probably benign Het
Vps41 T A 13: 18,975,827 (GRCm39) probably benign Het
Vwa8 C T 14: 79,331,724 (GRCm39) A1275V possibly damaging Het
Other mutations in Htr2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02378:Htr2c APN X 145,976,755 (GRCm39) splice site probably benign
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 2014-05-07