Incidental Mutation 'IGL02117:Hrh4'
ID 280430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hrh4
Ensembl Gene ENSMUSG00000037346
Gene Name histamine receptor H4
Synonyms H4R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL02117
Quality Score
Status
Chromosome 18
Chromosomal Location 13140047-13155939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13155477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 339 (S339P)
Ref Sequence ENSEMBL: ENSMUSP00000041061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041676]
AlphaFold Q91ZY2
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: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Hrh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Hrh4 APN 18 13,149,004 (GRCm39) splice site probably benign
IGL01544:Hrh4 APN 18 13,148,950 (GRCm39) missense probably benign 0.22
IGL01765:Hrh4 APN 18 13,140,252 (GRCm39) missense probably damaging 1.00
IGL02559:Hrh4 APN 18 13,140,301 (GRCm39) critical splice donor site probably null
IGL03277:Hrh4 APN 18 13,148,940 (GRCm39) missense probably damaging 1.00
IGL03281:Hrh4 APN 18 13,155,526 (GRCm39) missense possibly damaging 0.94
BB009:Hrh4 UTSW 18 13,148,869 (GRCm39) nonsense probably null
BB019:Hrh4 UTSW 18 13,148,869 (GRCm39) nonsense probably null
R0267:Hrh4 UTSW 18 13,155,455 (GRCm39) nonsense probably null
R0329:Hrh4 UTSW 18 13,140,302 (GRCm39) splice site probably benign
R1601:Hrh4 UTSW 18 13,148,955 (GRCm39) missense possibly damaging 0.86
R1827:Hrh4 UTSW 18 13,155,261 (GRCm39) missense probably damaging 0.97
R2964:Hrh4 UTSW 18 13,155,426 (GRCm39) missense probably benign 0.43
R3843:Hrh4 UTSW 18 13,155,343 (GRCm39) missense possibly damaging 0.77
R5262:Hrh4 UTSW 18 13,148,870 (GRCm39) missense probably damaging 0.99
R5325:Hrh4 UTSW 18 13,155,054 (GRCm39) nonsense probably null
R5473:Hrh4 UTSW 18 13,154,985 (GRCm39) missense probably benign 0.34
R6500:Hrh4 UTSW 18 13,155,525 (GRCm39) missense probably damaging 0.98
R6622:Hrh4 UTSW 18 13,155,454 (GRCm39) missense probably damaging 1.00
R7574:Hrh4 UTSW 18 13,154,970 (GRCm39) missense possibly damaging 0.92
R7877:Hrh4 UTSW 18 13,155,582 (GRCm39) missense possibly damaging 0.50
R7932:Hrh4 UTSW 18 13,148,869 (GRCm39) nonsense probably null
R8197:Hrh4 UTSW 18 13,154,986 (GRCm39) missense probably damaging 1.00
R8278:Hrh4 UTSW 18 13,140,284 (GRCm39) missense probably damaging 0.99
R8549:Hrh4 UTSW 18 13,155,115 (GRCm39) missense possibly damaging 0.62
R8873:Hrh4 UTSW 18 13,140,195 (GRCm39) missense
R9615:Hrh4 UTSW 18 13,154,944 (GRCm39) missense probably benign 0.41
R9738:Hrh4 UTSW 18 13,155,270 (GRCm39) missense possibly damaging 0.65
Posted On 2015-04-16