Incidental Mutation 'R2181:Htr6'
ID237179
Institutional Source Beutler Lab
Gene Symbol Htr6
Ensembl Gene ENSMUSG00000028747
Gene Name5-hydroxytryptamine (serotonin) receptor 6
Synonyms5-HT6
MMRRC Submission 040183-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #R2181 (G1)
Quality Score216
Status Not validated
Chromosome4
Chromosomal Location139061108-139075570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 139074425 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 113 (S113P)
Ref Sequence ENSEMBL: ENSMUSP00000101428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068036] [ENSMUST00000105802]
Predicted Effect probably damaging
Transcript: ENSMUST00000068036
AA Change: S113P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068333
Gene: ENSMUSG00000028747
AA Change: S113P

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
Pfam:7tm_1 43 322 4.6e-63 PFAM
low complexity region 364 378 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
low complexity region 404 416 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105802
AA Change: S113P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101428
Gene: ENSMUSG00000028747
AA Change: S113P

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
Pfam:7tm_1 43 322 1.9e-72 PFAM
low complexity region 364 378 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
low complexity region 404 416 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210295
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the seven-transmembrane G protein-coupled receptor family of proteins. The encoded protein couples with the Gs alpha subunit and stimulates adenylate cyclase to activate the cyclic AMP-dependent signaling pathway. This receptor is thought to regulate cholinergic neuronal transmission in the brain. Several antidepressants and antipsychotic drugs have a high affinity for this receptor. [provided by RefSeq, Aug 2013]
PHENOTYPE: Male mice homozygous for some disruptions in this gene display decreased body size. Mice homozygous for a different null allele display decreased sensitivity to alcohol induced behavioral responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik C T 16: 3,907,086 S43N possibly damaging Het
Abcb5 T G 12: 118,867,946 I1224L possibly damaging Het
Adgra2 G A 8: 27,121,673 G1002S probably damaging Het
Arhgap28 T C 17: 67,896,117 T114A probably damaging Het
Colec12 T A 18: 9,846,828 S75T probably damaging Het
Cyp2c67 A G 19: 39,609,097 C486R possibly damaging Het
Ecm2 T A 13: 49,530,289 L581Q probably damaging Het
Faxc T A 4: 21,931,591 S10T probably benign Het
Frem2 A G 3: 53,574,587 I1893T possibly damaging Het
Gabrr3 T A 16: 59,448,009 D328E probably damaging Het
Gbp7 A G 3: 142,544,030 I421V possibly damaging Het
Gorasp1 A G 9: 119,928,356 S317P probably damaging Het
Ift74 A G 4: 94,632,714 E168G probably damaging Het
Kdm6b A T 11: 69,401,126 Y1443* probably null Het
Mmp28 A C 11: 83,442,717 V466G possibly damaging Het
Nbea A T 3: 56,029,939 S750R possibly damaging Het
Nbeal1 T C 1: 60,278,780 F1959L probably damaging Het
Nelfa T C 5: 33,900,509 N314D probably benign Het
Numbl T A 7: 27,268,921 probably null Het
Olfr1370 G T 13: 21,073,224 P26T probably damaging Het
Olfr1467 G T 19: 13,365,074 V149F probably benign Het
Olfr272 T A 4: 52,911,524 K90M probably damaging Het
Olfr346 G A 2: 36,688,334 D111N probably damaging Het
Olfr678 T C 7: 105,070,211 V248A possibly damaging Het
Penk T C 4: 4,134,041 probably null Het
Pglyrp2 A G 17: 32,418,962 S31P probably damaging Het
Pigg T C 5: 108,336,500 S538P probably damaging Het
Pld2 A G 11: 70,542,989 T252A possibly damaging Het
Ppp2r5e T C 12: 75,462,324 I394V probably benign Het
Sh3rf1 G T 8: 61,363,238 V510F probably damaging Het
Slc4a2 A G 5: 24,435,653 H677R possibly damaging Het
Stam2 A T 2: 52,703,144 H345Q probably benign Het
Tmtc3 T C 10: 100,448,973 N600S probably benign Het
Trappc8 A G 18: 20,819,222 probably null Het
Vmn1r72 A T 7: 11,669,668 C284* probably null Het
Vmn2r76 T C 7: 86,225,535 I745V probably benign Het
Zfhx4 A C 3: 5,403,332 D2850A probably damaging Het
Zfp764 A G 7: 127,406,499 W36R probably damaging Het
Zfp804b G A 5: 6,771,674 T463I probably damaging Het
Zfp811 T G 17: 32,797,721 K448N probably damaging Het
Other mutations in Htr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02859:Htr6 APN 4 139074434 missense probably damaging 1.00
IGL03093:Htr6 APN 4 139061769 missense probably damaging 1.00
R0179:Htr6 UTSW 4 139062126 missense probably damaging 1.00
R0415:Htr6 UTSW 4 139062081 missense possibly damaging 0.53
R1551:Htr6 UTSW 4 139074465 nonsense probably null
R1631:Htr6 UTSW 4 139061493 missense probably benign 0.12
R4404:Htr6 UTSW 4 139062202 missense probably benign 0.03
R5310:Htr6 UTSW 4 139061666 missense probably damaging 0.99
R5604:Htr6 UTSW 4 139061503 missense probably benign 0.00
R5768:Htr6 UTSW 4 139061704 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCTTTGCCCAGTTCATGC -3'
(R):5'- TGTCAACAGTAGCACCCCAG -3'

Sequencing Primer
(F):5'- GTTCATGCCAGCCCAGCAAG -3'
(R):5'- AATTCGCTGCTGATCGCG -3'
Posted On2014-10-02