|Institutional Source||Beutler Lab|
|Gene Name||histamine receptor H4|
|Is this an essential gene?||Probably non essential (E-score: 0.063)|
|Stock #||R3843 (G1)|
|Chromosomal Location||13006990-13022882 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 13022286 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 294 (Y294C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041061 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041676]|
|Predicted Effect||possibly damaging
AA Change: Y294C
PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: Y294C
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
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||
|Other mutations in Hrh4||
(F):5'- ACCTCTTCCAGTGCTTCAGG -3'
(R):5'- AACGAATTGAACCATTGCAGC -3'
(F):5'- GTGCTTCAGGACACTTACACAGAG -3'
(R):5'- TTGAACCATTGCAGCCAGAAG -3'