Incidental Mutation 'R2228:Htr2c'
ID 239894
Institutional Source Beutler Lab
Gene Symbol Htr2c
Ensembl Gene ENSMUSG00000041380
Gene Name 5-hydroxytryptamine (serotonin) receptor 2C
Synonyms Htr1c, 5HT1c, 5-HT2cR, 5-HT2C receptor, SR1
MMRRC Submission 040229-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2228 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 145745509-145980273 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 145977188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 326 (C326F)
Ref Sequence ENSEMBL: ENSMUSP00000094021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036303] [ENSMUST00000096299] [ENSMUST00000156697]
AlphaFold P34968
Predicted Effect probably damaging
Transcript: ENSMUST00000036303
AA Change: C326F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043936
Gene: ENSMUSG00000041380
AA Change: C326F

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: C326F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094021
Gene: ENSMUSG00000041380
AA Change: C326F

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,559,935 (GRCm39) T242A probably benign Het
Adam24 A T 8: 41,133,404 (GRCm39) I291L probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adcy8 C A 15: 64,694,056 (GRCm39) R407L possibly damaging Het
Aldh3b2 C T 19: 4,031,133 (GRCm39) P461S probably benign Het
Araf T C X: 20,717,912 (GRCm39) F144L probably benign Het
Atp11b G T 3: 35,861,091 (GRCm39) D193Y probably damaging Het
Atp6v1b2 C A 8: 69,555,411 (GRCm39) probably null Het
Bclaf1 T A 10: 20,215,624 (GRCm39) probably benign Het
Cadps A G 14: 12,465,935 (GRCm38) Y987H probably benign Het
Capn6 T G X: 142,587,785 (GRCm39) T498P possibly damaging Het
Ccdc153 T A 9: 44,154,314 (GRCm39) L47Q probably damaging Het
Ccdc180 G T 4: 45,948,856 (GRCm39) probably null Het
Cep162 G T 9: 87,126,384 (GRCm39) T176K probably benign Het
Cpsf2 A G 12: 101,956,088 (GRCm39) D297G probably benign Het
Entpd8 T C 2: 24,975,028 (GRCm39) M453T probably damaging Het
Eprs1 T A 1: 185,099,734 (GRCm39) L18Q probably damaging Het
Fem1b G T 9: 62,704,020 (GRCm39) C413* probably null Het
Flrt1 T A 19: 7,072,723 (GRCm39) D608V probably damaging Het
Fstl5 C A 3: 76,389,659 (GRCm39) N285K probably damaging Het
Golga1 T C 2: 38,913,183 (GRCm39) D543G probably benign Het
Hivep2 A G 10: 14,004,107 (GRCm39) H235R probably damaging Het
Ifit1bl2 G T 19: 34,596,630 (GRCm39) L329M possibly damaging Het
Igsf9b T C 9: 27,244,792 (GRCm39) S920P probably damaging Het
Macroh2a1 C T 13: 56,232,075 (GRCm39) G235S probably damaging Het
Mcm8 T A 2: 132,662,041 (GRCm39) I125K possibly damaging Het
Micall1 C T 15: 79,014,036 (GRCm39) R644W probably damaging Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myo9a A G 9: 59,801,463 (GRCm39) E1887G probably benign Het
Nbn A G 4: 15,970,904 (GRCm39) T296A probably benign Het
Nckap1l T C 15: 103,364,361 (GRCm39) probably null Het
Neb T C 2: 52,123,007 (GRCm39) R3734G probably benign Het
Nup93 C T 8: 95,030,819 (GRCm39) T305I probably benign Het
Or5bw2 A T 7: 6,573,802 (GRCm39) M271L probably benign Het
P2ry4 A G X: 99,637,553 (GRCm39) L115P probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r26 T C 2: 28,343,798 (GRCm39) F1143L possibly damaging Het
Ppp1r3c C A 19: 36,711,098 (GRCm39) R224L probably benign Het
Ptafr T G 4: 132,306,691 (GRCm39) I27R possibly damaging Het
Pwwp2b T C 7: 138,835,104 (GRCm39) C182R probably damaging Het
Reln A G 5: 22,192,076 (GRCm39) F1455L possibly damaging Het
Rufy1 C T 11: 50,288,611 (GRCm39) probably null Het
Samd9l T C 6: 3,376,910 (GRCm39) H117R probably benign Het
Sfxn4 C T 19: 60,839,458 (GRCm39) G200E probably damaging Het
Sipa1l3 T A 7: 29,077,364 (GRCm39) K803* probably null Het
Smim23 C A 11: 32,771,870 (GRCm39) Q65H probably damaging Het
Spata18 A T 5: 73,824,244 (GRCm39) I156L possibly damaging Het
Sppl2b G A 10: 80,701,451 (GRCm39) V389M probably damaging Het
Srbd1 T C 17: 86,292,651 (GRCm39) I973V probably damaging Het
Ssx2ip C T 3: 146,123,531 (GRCm39) P10L probably damaging Het
Taf2 A C 15: 54,928,042 (GRCm39) D120E possibly damaging Het
Tanc1 T C 2: 59,555,068 (GRCm39) L42S probably benign Het
Tex15 C A 8: 34,061,265 (GRCm39) H232N probably benign Het
Tg A T 15: 66,545,860 (GRCm39) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,198,513 (GRCm39) probably null Het
Tro A T X: 149,438,477 (GRCm39) M60K probably benign Het
Ttc38 G A 15: 85,728,704 (GRCm39) V219I probably benign Het
U2af2 T C 7: 5,078,672 (GRCm39) I417T probably damaging Het
Ube2r2 C T 4: 41,174,044 (GRCm39) H61Y probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r113 C T 7: 20,521,832 (GRCm39) S208F probably damaging Het
Wdr35 A G 12: 9,024,955 (GRCm39) K16E possibly damaging Het
Wwp1 A T 4: 19,641,745 (GRCm39) Y437N probably damaging Het
Zdhhc4 A C 5: 143,306,162 (GRCm39) W189G probably damaging Het
Zfp512 A T 5: 31,622,919 (GRCm39) K73N probably damaging Het
Other mutations in Htr2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Htr2c APN X 145,858,921 (GRCm39) missense probably damaging 1.00
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 145,977,186 (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
Predicted Primers PCR Primer
(F):5'- ACTGCGTAATATCAGCCTGAAC -3'
(R):5'- CTGGCTTATAATCGCAGCGC -3'

Sequencing Primer
(F):5'- CTTTCTAAAGTGCTGCTGC -3'
(R):5'- TCGCAGCGCAAATATTTAGAG -3'
Posted On 2014-10-15