Incidental Mutation 'IGL02559:Hrh4'
ID298642
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: 0.069) question?
Stock #IGL02559
Quality Score
Status
Chromosome18
Chromosomal Location13006990-13022882 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 13007244 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041676]
Predicted Effect probably null
Transcript: ENSMUST00000041676
SMART Domains Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,687,070 Q1004* probably null Het
Bahcc1 A G 11: 120,285,172 D1914G probably damaging Het
Bcl11b A T 12: 107,915,394 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col24a1 A T 3: 145,314,173 I102F probably benign Het
Col7a1 C T 9: 108,973,216 R2063C unknown Het
Ddo T A 10: 40,647,521 L169Q probably damaging Het
Defb4 G T 8: 19,201,297 C60F probably damaging Het
Dock9 A T 14: 121,625,147 probably benign Het
Dysf A T 6: 84,067,446 probably benign Het
Fasn G A 11: 120,809,066 A2253V possibly damaging Het
Fbxw26 T C 9: 109,722,164 D355G probably benign Het
Gak C T 5: 108,584,232 E797K probably null Het
Gm10654 T C 8: 70,932,130 noncoding transcript Het
Gnas T C 2: 174,341,936 probably benign Het
Hdac3 A G 18: 37,954,891 F8S probably damaging Het
Hist1h2bj T A 13: 22,043,363 V45E possibly damaging Het
Klhl1 A G 14: 96,151,960 V586A possibly damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Mmp28 G T 11: 83,447,740 N128K probably benign Het
Mndal T C 1: 173,872,920 T162A probably benign Het
Myh3 A G 11: 67,101,095 E1822G possibly damaging Het
Mylpf A G 7: 127,214,143 Y133C probably damaging Het
Nup210l G A 3: 90,159,953 A767T probably benign Het
Olfr1404 T C 1: 173,216,521 V290A probably damaging Het
Olfr221 A G 14: 52,036,007 Y35H probably damaging Het
Olfr666 T A 7: 104,892,954 R225W probably benign Het
Paics A G 5: 76,964,604 I312V possibly damaging Het
Pkdrej G T 15: 85,817,848 Q1296K probably benign Het
Ppil2 T C 16: 17,109,651 K26E possibly damaging Het
Rufy1 A G 11: 50,420,483 F170L probably damaging Het
Shcbp1 T A 8: 4,749,305 E93V probably damaging Het
Slamf1 T A 1: 171,767,258 I11K possibly damaging Het
Slc5a5 C T 8: 70,890,271 G215D probably damaging Het
Slco1a1 A T 6: 141,921,788 V473D probably benign Het
Slit1 A G 19: 41,721,085 V123A probably benign Het
Srgap2 A C 1: 131,524,936 probably null Het
Stk32c T C 7: 139,120,690 M208V probably benign Het
Syt15 T C 14: 34,221,803 V103A probably benign Het
Tacc2 T A 7: 130,759,267 L456Q probably damaging Het
Tanc1 A G 2: 59,724,654 probably benign Het
Tepsin G T 11: 120,096,905 D62E probably benign Het
Thap3 T C 4: 151,983,687 D106G probably benign Het
Ttn T C 2: 76,786,217 D14818G probably damaging Het
Txndc2 T C 17: 65,639,590 N39S possibly damaging Het
Ubxn11 A G 4: 134,124,943 E200G probably damaging Het
Vmn2r11 T G 5: 109,052,180 Q469P probably damaging Het
Yipf2 T C 9: 21,592,186 T22A probably damaging 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
IGL02117:Hrh4 APN 18 13022420 missense probably benign 0.02
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