Incidental Mutation 'IGL03277:Hrh4'
ID415436
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: 0.071) question?
Stock #IGL03277
Quality Score
Status
Chromosome18
Chromosomal Location13006990-13022882 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13015883 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 101 (S101P)
Ref Sequence ENSEMBL: ENSMUSP00000041061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041676]
Predicted Effect probably damaging
Transcript: ENSMUST00000041676
AA Change: S101P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: S101P

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amt A G 9: 108,301,219 T342A probably benign Het
B3glct T C 5: 149,726,834 L134P probably damaging Het
Bms1 A T 6: 118,405,122 M485K probably benign Het
Chd6 T C 2: 160,983,061 N1226S probably null Het
Cpne2 T C 8: 94,548,372 Y3H probably benign Het
Dmxl2 A G 9: 54,404,220 V1739A probably damaging Het
Dnah7a T A 1: 53,630,322 T543S probably benign Het
Dock11 T G X: 36,013,950 V1000G probably benign Het
Ednrb T A 14: 103,843,299 N60Y probably benign Het
Eif3d A G 15: 77,959,649 M499T possibly damaging Het
Elmod1 G A 9: 53,925,988 L178F probably damaging Het
Fam214a G A 9: 75,009,232 R371Q probably damaging Het
Ift172 A G 5: 31,267,298 V684A possibly damaging Het
Mtx2 A G 2: 74,868,404 T124A probably damaging Het
Nat3 T A 8: 67,547,689 H73Q probably benign Het
Ndst2 A G 14: 20,730,166 L2P possibly damaging Het
Nipsnap3a G T 4: 52,997,219 A162S probably benign Het
Olfr1030 T C 2: 85,984,173 I111T probably damaging Het
Olfr47 T G 6: 43,235,942 C111W probably damaging Het
Peg3 T C 7: 6,711,674 D183G probably damaging Het
Prlr A G 15: 10,328,801 E454G probably benign Het
Prom1 G A 5: 44,032,971 Q364* probably null Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sema5b A G 16: 35,651,312 D425G probably damaging Het
Slc16a7 A T 10: 125,230,691 C360S probably benign Het
Slc38a7 T A 8: 95,848,476 I59F probably damaging Het
Slc5a6 A G 5: 31,038,028 C449R possibly damaging Het
Slc9b1 T C 3: 135,390,508 Y357H possibly damaging Het
Snx17 A T 5: 31,195,740 probably benign Het
Stk32b A C 5: 37,628,976 M48R probably damaging Het
Tspan9 A G 6: 127,967,075 probably null Het
Tst A T 15: 78,405,321 N171K probably damaging Het
Vmn1r180 T A 7: 23,953,285 I291N probably damaging Het
Vmn2r32 T A 7: 7,474,252 D380V probably benign Het
Wdfy4 T C 14: 33,068,904 T2189A probably benign Het
Zbtb20 A G 16: 43,618,437 N640S possibly damaging Het
Zfp142 A G 1: 74,571,034 S1098P 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
IGL02559:Hrh4 APN 18 13007244 critical splice donor site probably null
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
R7574:Hrh4 UTSW 18 13021913 missense possibly damaging 0.92
Posted On2016-08-02