Incidental Mutation 'R1137:Htr4'
ID 95242
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 039210-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1137 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 62457275-62629648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62570624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 226 (I226M)
Ref Sequence ENSEMBL: ENSMUSP00000027560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027560]
AlphaFold P97288
Predicted Effect probably damaging
Transcript: ENSMUST00000027560
AA Change: I226M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027560
Gene: ENSMUSG00000026322
AA Change: I226M

DomainStartEndE-ValueType
Pfam:7tm_1 36 312 7e-68 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,256 (GRCm39) S54T probably benign Het
Ahdc1 A G 4: 132,789,424 (GRCm39) T222A possibly damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Cep250 A G 2: 155,832,760 (GRCm39) K1561E probably benign Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Clca4a A G 3: 144,676,446 (GRCm39) V78A probably damaging Het
Clec4n G A 6: 123,223,526 (GRCm39) M170I possibly damaging Het
Cp G T 3: 20,033,116 (GRCm39) A648S probably benign Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dnah8 A G 17: 31,074,910 (GRCm39) D4543G probably damaging Het
Elp3 A G 14: 65,785,370 (GRCm39) V477A probably damaging Het
Exoc6b A G 6: 84,885,205 (GRCm39) S245P probably benign Het
Fkbp9 G T 6: 56,837,682 (GRCm39) G312V probably damaging Het
Impa2 G A 18: 67,451,497 (GRCm39) V264I probably benign Het
Kif20b T C 19: 34,914,486 (GRCm39) probably null Het
Kmt2c C A 5: 25,515,981 (GRCm39) V2621F possibly damaging Het
Lif A G 11: 4,219,237 (GRCm39) D172G probably damaging Het
Llgl1 C A 11: 60,595,559 (GRCm39) H82N probably benign Het
Lrwd1 T C 5: 136,162,273 (GRCm39) I162M probably benign Het
Mdn1 T A 4: 32,694,511 (GRCm39) I1078N probably damaging Het
Muc1 A T 3: 89,137,745 (GRCm39) T196S probably benign Het
Myh7b T C 2: 155,464,634 (GRCm39) L657P probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Ppp1cb T C 5: 32,645,015 (GRCm39) M55T probably damaging Het
Ppp1r9a T C 6: 5,159,697 (GRCm39) M1078T possibly damaging Het
Rarg T C 15: 102,149,595 (GRCm39) T125A probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Slc5a7 G A 17: 54,600,039 (GRCm39) R125C probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tigit G T 16: 43,469,485 (GRCm39) T202N probably benign Het
Tmem132b C T 5: 125,860,606 (GRCm39) A617V possibly damaging Het
Tpm1 T C 9: 66,938,400 (GRCm39) probably null Het
Ubr3 A G 2: 69,768,659 (GRCm39) probably benign Het
Vcan T A 13: 89,852,422 (GRCm39) D846V probably damaging Het
Vmn1r16 T G 6: 57,300,221 (GRCm39) N134H probably damaging 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
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
R7184:Htr4 UTSW 18 62,570,498 (GRCm39) nonsense probably null
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'- TCCCTCCCACTCTCAGATAGAGAAAAGG -3'
(R):5'- GAAAGCAGTCCACACCTGCTCG -3'

Sequencing Primer
(F):5'- GGAAATTCAGCCACAACTCTAACTC -3'
(R):5'- TGTAGTCTATGAAAGGGTCCAC -3'
Posted On 2014-01-05