Incidental Mutation 'IGL03240:Htr4'
ID414237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr4
Ensembl Gene ENSMUSG00000026322
Gene Name5 hydroxytryptamine (serotonin) receptor 4
Synonyms5-HT4, 5-HT<4L>
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03240
Quality Score
Status
Chromosome18
Chromosomal Location62324204-62467802 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 62437621 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 249 (H249L)
Ref Sequence ENSEMBL: ENSMUSP00000027560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027560]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027560
AA Change: H249L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027560
Gene: ENSMUSG00000026322
AA Change: H249L

DomainStartEndE-ValueType
Pfam:7tm_1 36 312 7e-68 PFAM
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,556,716 probably benign Het
AA467197 A G 2: 122,639,262 T57A probably benign Het
Akap11 A T 14: 78,495,905 D1852E probably damaging Het
Arg2 T A 12: 79,131,831 probably null Het
Arhgef4 A G 1: 34,806,026 D1437G probably benign Het
AW551984 C A 9: 39,589,122 R780L probably benign Het
Baz1a T A 12: 54,927,567 K503* probably null Het
Cdk2ap1 A T 5: 124,346,144 H96Q probably damaging Het
Col11a1 T A 3: 114,217,210 probably null Het
Col12a1 A T 9: 79,678,383 probably null Het
Col22a1 G A 15: 71,807,928 P877S unknown Het
Col7a1 A T 9: 108,968,373 N1681Y probably null Het
Dennd1b T G 1: 139,139,392 S398A possibly damaging Het
Fam126b A G 1: 58,529,917 L501P probably damaging Het
Fam129b A C 2: 32,922,097 Y397S probably benign Het
Fgd2 C T 17: 29,361,161 probably benign Het
Hadh T C 3: 131,248,543 S98G probably benign Het
Has2 C T 15: 56,668,260 R353H probably damaging Het
Heg1 T C 16: 33,727,413 S857P probably benign Het
Hemgn T A 4: 46,400,732 R43* probably null Het
Iqgap3 T C 3: 88,114,974 S495P probably benign Het
Kars T C 8: 112,005,639 D99G probably benign Het
Krt40 T A 11: 99,537,568 S333C probably damaging Het
Lamc2 T C 1: 153,124,125 I1163V probably damaging Het
Lrrn2 A T 1: 132,938,327 I377F possibly damaging Het
Mcm5 T A 8: 75,115,902 I268N probably damaging Het
Mmp21 G T 7: 133,674,571 H514Q probably damaging Het
Mtcl1 G A 17: 66,338,019 P1478S probably damaging Het
Mybbp1a A G 11: 72,445,666 T495A possibly damaging Het
Myo10 T A 15: 25,701,602 V21E probably damaging Het
Nap1l4 A G 7: 143,538,245 S49P probably benign Het
Ncoa2 G A 1: 13,177,092 S369F probably damaging Het
Olfr1009 A T 2: 85,722,331 K309* probably null Het
Pon2 A G 6: 5,265,316 probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Psmd6 A G 14: 14,112,393 probably benign Het
Ptprk G T 10: 28,492,961 R643L probably damaging Het
Ptprq T A 10: 107,688,507 Y455F probably benign Het
Sec23b G A 2: 144,566,759 probably benign Het
Sh3pxd2a A G 19: 47,268,026 L751P probably damaging Het
Snx6 T A 12: 54,783,443 H77L probably damaging Het
Svep1 C A 4: 58,048,188 C3472F possibly damaging Het
Trpd52l3 A T 19: 30,003,996 E50D probably damaging Het
Ttc33 A G 15: 5,217,328 D205G probably damaging Het
Tubgcp3 A T 8: 12,649,797 V352E probably benign Het
Tulp2 T G 7: 45,522,310 F436C probably damaging Het
Uhrf1bp1 C A 17: 27,893,253 N1167K probably benign Het
Vmn1r123 T A 7: 21,162,357 M58K possibly damaging Het
Vmn2r113 T C 17: 22,955,957 V514A probably benign Het
Vps13c T C 9: 67,955,047 V2982A probably benign Het
Ywhaq T C 12: 21,395,000 T215A possibly damaging Het
Zfp677 A T 17: 21,396,873 H64L probably damaging Het
Other mutations in Htr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01965:Htr4 APN 18 62437669 missense probably damaging 1.00
IGL02822:Htr4 APN 18 62428184 splice site probably benign
P0042:Htr4 UTSW 18 62413677 missense probably damaging 1.00
R0485:Htr4 UTSW 18 62428154 missense probably damaging 1.00
R1137:Htr4 UTSW 18 62437553 missense probably damaging 1.00
R1661:Htr4 UTSW 18 62412234 missense probably damaging 0.97
R1665:Htr4 UTSW 18 62412234 missense probably damaging 0.97
R1682:Htr4 UTSW 18 62428066 missense possibly damaging 0.91
R1903:Htr4 UTSW 18 62428122 missense probably benign 0.01
R2215:Htr4 UTSW 18 62413716 nonsense probably null
R2847:Htr4 UTSW 18 62428126 missense probably damaging 1.00
R2848:Htr4 UTSW 18 62428126 missense probably damaging 1.00
R5764:Htr4 UTSW 18 62437542 missense probably damaging 0.97
R5787:Htr4 UTSW 18 62413622 missense probably damaging 0.98
R7184:Htr4 UTSW 18 62437427 nonsense probably null
R7278:Htr4 UTSW 18 62412176 missense probably benign 0.04
R7811:Htr4 UTSW 18 62412198 missense possibly damaging 0.51
Z1177:Htr4 UTSW 18 62437608 missense probably benign 0.29
Posted On2016-08-02