Incidental Mutation 'IGL02117:Hrh4'
ID280430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hrh4
Ensembl Gene ENSMUSG00000037346
Gene Namehistamine receptor H4
SynonymsH4R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL02117
Quality Score
Status
Chromosome18
Chromosomal Location13006990-13022882 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13022420 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 339 (S339P)
Ref Sequence ENSEMBL: ENSMUSP00000041061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041676]
Predicted Effect probably benign
Transcript: ENSMUST00000041676
AA Change: S339P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: S339P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 26 211 1e-5 PFAM
Pfam:7tm_1 32 360 8.1e-58 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased allergic response to airway inflammation and decreased Th2 responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,473,546 M71L probably benign Het
Abcb11 A G 2: 69,323,825 probably benign Het
Ago4 T C 4: 126,516,852 T249A probably benign Het
Ahr A T 12: 35,512,923 C92* probably null Het
Arhgap17 G A 7: 123,286,773 probably benign Het
Arid1a G T 4: 133,692,815 T992K unknown Het
Camk2a A G 18: 60,977,989 I83M probably damaging Het
Ccdc154 T C 17: 25,167,818 probably null Het
Chtf18 T C 17: 25,722,203 H607R possibly damaging Het
Col25a1 T C 3: 130,519,773 probably benign Het
Col9a1 C T 1: 24,237,493 Q530* probably null Het
Cryl1 G T 14: 57,286,447 D219E probably damaging Het
Cul3 A T 1: 80,323,064 probably benign Het
Cul9 C A 17: 46,540,375 R373L probably benign Het
Exo1 A G 1: 175,893,743 Y316C possibly damaging Het
Fam114a1 G A 5: 65,030,122 V408M probably benign Het
Hmcn2 A T 2: 31,457,173 S4792C possibly damaging Het
Hps5 A G 7: 46,783,516 F260S probably damaging Het
Ist1 A T 8: 109,678,952 L152Q probably damaging Het
Marco A G 1: 120,490,954 V190A probably benign Het
Mdn1 T C 4: 32,709,364 V1711A probably benign Het
Mmp9 A G 2: 164,949,724 Y179C probably damaging Het
Mrgprb5 A G 7: 48,168,994 probably benign Het
Mrgprx1 G T 7: 48,021,623 C125* probably null Het
Msh6 A G 17: 87,990,806 probably benign Het
Myot C A 18: 44,355,110 R441S probably benign Het
Olfr740 A G 14: 50,453,942 R297G possibly damaging Het
Paf1 A G 7: 28,398,690 probably benign Het
Pde11a A G 2: 75,991,262 L891P probably damaging Het
Prkar2a T A 9: 108,719,261 I135N probably damaging Het
Rap1gap C T 4: 137,727,044 T646M probably damaging Het
Rgs7bp T C 13: 104,951,579 D229G possibly damaging Het
Rhobtb3 C T 13: 75,877,428 S523N probably damaging Het
Setd7 A T 3: 51,521,405 Y335N probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Socs4 T C 14: 47,290,807 Y400H probably damaging Het
Spag16 A T 1: 69,870,320 H192L probably damaging Het
Ssh1 A T 5: 113,946,480 C566* probably null Het
Stap1 T G 5: 86,086,693 I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 H238Y probably damaging Het
Tifab T C 13: 56,176,462 Y56C probably benign Het
Tssk2 A G 16: 17,899,789 E352G probably benign Het
Vmn2r57 A T 7: 41,400,450 V625D probably benign Het
Wbp1l T C 19: 46,644,437 Y75H probably benign Het
Wnt5a T C 14: 28,506,120 probably benign Het
Other mutations in Hrh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Hrh4 APN 18 13015947 splice site probably benign
IGL01544:Hrh4 APN 18 13015893 missense probably benign 0.22
IGL01765:Hrh4 APN 18 13007195 missense probably damaging 1.00
IGL02559:Hrh4 APN 18 13007244 critical splice donor site probably null
IGL03277:Hrh4 APN 18 13015883 missense probably damaging 1.00
IGL03281:Hrh4 APN 18 13022469 missense possibly damaging 0.94
R0267:Hrh4 UTSW 18 13022398 nonsense probably null
R0329:Hrh4 UTSW 18 13007245 splice site probably benign
R1601:Hrh4 UTSW 18 13015898 missense possibly damaging 0.86
R1827:Hrh4 UTSW 18 13022204 missense probably damaging 0.97
R2964:Hrh4 UTSW 18 13022369 missense probably benign 0.43
R3843:Hrh4 UTSW 18 13022286 missense possibly damaging 0.77
R5262:Hrh4 UTSW 18 13015813 missense probably damaging 0.99
R5325:Hrh4 UTSW 18 13021997 nonsense probably null
R5473:Hrh4 UTSW 18 13021928 missense probably benign 0.34
R6500:Hrh4 UTSW 18 13022468 missense probably damaging 0.98
R6622:Hrh4 UTSW 18 13022397 missense probably damaging 1.00
Posted On2015-04-16