Incidental Mutation 'R2847:Htr4'
ID 251779
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 040440-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2847 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 62457275-62629648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62561197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 153 (S153P)
Ref Sequence ENSEMBL: ENSMUSP00000027560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027560]
AlphaFold P97288
Predicted Effect probably damaging
Transcript: ENSMUST00000027560
AA Change: S153P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027560
Gene: ENSMUSG00000026322
AA Change: S153P

DomainStartEndE-ValueType
Pfam:7tm_1 36 312 7e-68 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930510E17Rik T C 9: 53,176,089 (GRCm39) noncoding transcript Het
Abca13 T C 11: 9,244,584 (GRCm39) V2149A possibly damaging Het
Abca8a T C 11: 109,932,931 (GRCm39) D1231G probably damaging Het
Adgrf5 C A 17: 43,733,531 (GRCm39) N118K possibly damaging Het
Atxn1 A T 13: 45,720,175 (GRCm39) D573E probably damaging Het
Bub3 C T 7: 131,172,613 (GRCm39) T326M possibly damaging Het
Cd151 T C 7: 141,049,463 (GRCm39) Y57H probably damaging Het
Cib4 T C 5: 30,645,932 (GRCm39) N112S probably damaging Het
Cntnap5c A T 17: 58,183,387 (GRCm39) D31V probably damaging Het
Cobl A G 11: 12,328,342 (GRCm39) L81P probably damaging Het
Cpsf1 A T 15: 76,487,051 (GRCm39) L209Q probably damaging Het
Crocc G A 4: 140,746,067 (GRCm39) A1684V probably damaging Het
Cyp4f37 T A 17: 32,848,099 (GRCm39) C206S probably damaging Het
Defb39 C T 8: 19,102,909 (GRCm39) R62H possibly damaging Het
Dennd2b T C 7: 109,124,544 (GRCm39) Q1099R probably damaging Het
Dnah6 T C 6: 73,106,314 (GRCm39) K1756E probably benign Het
Efcab12 A G 6: 115,788,072 (GRCm39) I630T probably damaging Het
Erc2 T C 14: 27,762,445 (GRCm39) V736A probably damaging Het
Fbf1 C T 11: 116,048,514 (GRCm39) probably null Het
Fndc9 C T 11: 46,128,868 (GRCm39) A129V probably damaging Het
Foxk2 CGGGGGG CGGGGGGGGG 11: 121,151,317 (GRCm39) probably benign Het
Gba2 T C 4: 43,568,000 (GRCm39) probably null Het
Gna12 T A 5: 140,771,348 (GRCm39) D61V probably damaging Het
Gpr37 C T 6: 25,666,945 (GRCm39) probably benign Het
Grin2a A G 16: 9,579,829 (GRCm39) F145L possibly damaging Het
Grin2b C A 6: 135,717,951 (GRCm39) V714L probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hmcn1 G T 1: 150,439,350 (GRCm39) Y5494* probably null Het
Igkv9-120 T A 6: 68,027,128 (GRCm39) probably benign Het
Itgb6 T C 2: 60,430,879 (GRCm39) T772A probably damaging Het
Mgam C A 6: 40,629,649 (GRCm39) A86E possibly damaging Het
Mme T A 3: 63,252,620 (GRCm39) N421K possibly damaging Het
Mmp1b C T 9: 7,370,763 (GRCm39) V331I probably benign Het
Naa16 A G 14: 79,573,323 (GRCm39) C816R probably damaging Het
Nav1 G C 1: 135,378,382 (GRCm39) probably null Het
Nln A G 13: 104,161,533 (GRCm39) M679T probably damaging Het
Or1n1b A G 2: 36,780,536 (GRCm39) L108P probably damaging Het
Or8b53 C T 9: 38,667,332 (GRCm39) T116I possibly damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Otop3 T C 11: 115,235,384 (GRCm39) F339L probably damaging Het
Pax7 T C 4: 139,506,954 (GRCm39) D361G possibly damaging Het
Peg10 C T 6: 4,756,912 (GRCm39) probably benign Het
Plekhh2 G T 17: 84,905,394 (GRCm39) R1096L probably damaging Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Rnf43 T A 11: 87,623,093 (GRCm39) N731K probably benign Het
Robo4 C T 9: 37,315,772 (GRCm39) R342* probably null Het
Sec23ip G A 7: 128,355,797 (GRCm39) V307I probably benign Het
Slc2a4 T A 11: 69,836,997 (GRCm39) N116Y probably damaging Het
Tas1r3 T A 4: 155,944,659 (GRCm39) Q854L probably benign Het
Tox3 G A 8: 90,975,018 (GRCm39) Q538* probably null Het
Trpm4 A G 7: 44,960,022 (GRCm39) F771S probably damaging Het
Tstd3 A T 4: 21,759,375 (GRCm39) F132L possibly damaging Het
Ulk2 T C 11: 61,715,555 (GRCm39) probably null Het
Unc13b T C 4: 43,180,404 (GRCm39) Y3080H probably benign Het
Utp25 A T 1: 192,810,759 (GRCm39) N81K probably benign Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn2r114 A T 17: 23,509,948 (GRCm39) M844K probably benign Het
Vmn2r60 A T 7: 41,785,857 (GRCm39) H220L probably benign Het
Vps13a A G 19: 16,680,963 (GRCm39) S1078P probably damaging Het
Vwa8 G T 14: 79,184,582 (GRCm39) R360L probably benign Het
Xlr4b A T X: 72,258,938 (GRCm39) Q25L probably null Het
Zdhhc22 T A 12: 87,035,336 (GRCm39) T39S probably benign Het
Zfp532 T A 18: 65,789,697 (GRCm39) H1045Q possibly damaging Het
Zfp773 AGCTGCTGCTGCTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTGC 7: 7,136,092 (GRCm39) probably benign Het
Zfp964 G C 8: 70,116,504 (GRCm39) C368S unknown Het
Zfp985 G A 4: 147,667,468 (GRCm39) W112* 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
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'- TAACAAACGTTTCGGCCAGG -3'
(R):5'- TGACCAAGGCATCAATAGGAC -3'

Sequencing Primer
(F):5'- AAACGTTTCGGCCAGGTGTTAATG -3'
(R):5'- GGACATTTAAATATGTTGCTCAGACC -3'
Posted On 2014-12-04