Incidental Mutation 'R7184:Htr4'
ID 559204
Institutional Source Beutler Lab
Gene Symbol Htr4
Ensembl Gene ENSMUSG00000026322
Gene Name 5 hydroxytryptamine (serotonin) receptor 4
Synonyms 5-HT4, 5-HT<4L>
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 62457275-62629648 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 62570498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 184 (C184*)
Ref Sequence ENSEMBL: ENSMUSP00000027560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027560]
AlphaFold P97288
Predicted Effect probably null
Transcript: ENSMUST00000027560
AA Change: C184*
SMART Domains Protein: ENSMUSP00000027560
Gene: ENSMUSG00000026322
AA Change: C184*

DomainStartEndE-ValueType
Pfam:7tm_1 36 312 7e-68 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice exhibit attenuated feeding behavior following stress and novelty and show a hypersensitivity to seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null Het
Other mutations in Htr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01965:Htr4 APN 18 62,570,740 (GRCm39) missense probably damaging 1.00
IGL02822:Htr4 APN 18 62,561,255 (GRCm39) splice site probably benign
IGL03240:Htr4 APN 18 62,570,692 (GRCm39) missense possibly damaging 0.92
P0042:Htr4 UTSW 18 62,546,748 (GRCm39) missense probably damaging 1.00
R0485:Htr4 UTSW 18 62,561,225 (GRCm39) missense probably damaging 1.00
R1137:Htr4 UTSW 18 62,570,624 (GRCm39) missense probably damaging 1.00
R1661:Htr4 UTSW 18 62,545,305 (GRCm39) missense probably damaging 0.97
R1665:Htr4 UTSW 18 62,545,305 (GRCm39) missense probably damaging 0.97
R1682:Htr4 UTSW 18 62,561,137 (GRCm39) missense possibly damaging 0.91
R1903:Htr4 UTSW 18 62,561,193 (GRCm39) missense probably benign 0.01
R2215:Htr4 UTSW 18 62,546,787 (GRCm39) nonsense probably null
R2847:Htr4 UTSW 18 62,561,197 (GRCm39) missense probably damaging 1.00
R2848:Htr4 UTSW 18 62,561,197 (GRCm39) missense probably damaging 1.00
R5764:Htr4 UTSW 18 62,570,613 (GRCm39) missense probably damaging 0.97
R5787:Htr4 UTSW 18 62,546,693 (GRCm39) missense probably damaging 0.98
R7278:Htr4 UTSW 18 62,545,247 (GRCm39) missense probably benign 0.04
R7811:Htr4 UTSW 18 62,545,269 (GRCm39) missense possibly damaging 0.51
R8190:Htr4 UTSW 18 62,570,971 (GRCm39) missense possibly damaging 0.64
R8312:Htr4 UTSW 18 62,570,549 (GRCm39) missense probably damaging 1.00
R8699:Htr4 UTSW 18 62,570,763 (GRCm39) missense probably damaging 1.00
R8725:Htr4 UTSW 18 62,561,209 (GRCm39) missense probably damaging 1.00
R8727:Htr4 UTSW 18 62,561,209 (GRCm39) missense probably damaging 1.00
R8757:Htr4 UTSW 18 62,545,335 (GRCm39) missense probably damaging 1.00
R8787:Htr4 UTSW 18 62,570,853 (GRCm39) missense possibly damaging 0.87
Z1177:Htr4 UTSW 18 62,570,679 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- ACTCCTAGAAACTCTGAGAGATGTTC -3'
(R):5'- TCCTCATGCGATGTGTGCTG -3'

Sequencing Primer
(F):5'- GAAAGTCCTATGTGCTATAGACTTG -3'
(R):5'- CTGGTCAGCTGGCTGGG -3'
Posted On 2019-06-26