Incidental Mutation 'R6622:Hrh4'
ID 524571
Institutional Source Beutler Lab
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 # R6622 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 13140047-13155939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13155454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 331 (Y331C)
Ref Sequence ENSEMBL: ENSMUSP00000041061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041676]
AlphaFold Q91ZY2
Predicted Effect probably damaging
Transcript: ENSMUST00000041676
AA Change: Y331C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: Y331C

Pfam:7TM_GPCR_Srsx 26 211 1e-5 PFAM
Pfam:7tm_1 32 360 8.1e-58 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A C 5: 81,942,606 (GRCm39) D1412A probably benign Het
Arhgap26 A G 18: 39,032,916 (GRCm39) probably benign Het
Card14 A G 11: 119,224,814 (GRCm39) M614V probably benign Het
Cbx2 A G 11: 118,919,961 (GRCm39) T509A probably damaging Het
Cep135 A G 5: 76,788,815 (GRCm39) D1136G probably benign Het
Cep170 T A 1: 176,583,898 (GRCm39) Q827L probably damaging Het
Clock A T 5: 76,389,801 (GRCm39) I349K probably damaging Het
Cnppd1 A T 1: 75,113,539 (GRCm39) V243E probably damaging Het
Cops3 A G 11: 59,723,960 (GRCm39) F93L probably damaging Het
Cplane1 C A 15: 8,273,706 (GRCm39) A2563D probably damaging Het
Cxxc5 T G 18: 35,992,372 (GRCm39) C258G possibly damaging Het
Cycs G A 6: 50,543,443 (GRCm39) probably benign Het
Cyp2c40 A T 19: 39,790,990 (GRCm39) H280Q probably damaging Het
Cyp4f14 C T 17: 33,133,619 (GRCm39) R79H probably benign Het
Dnajc27 A G 12: 4,153,114 (GRCm39) S197G probably benign Het
Dscam C T 16: 96,446,273 (GRCm39) G1456E probably benign Het
Dst G A 1: 34,218,332 (GRCm39) V1591I probably benign Het
Epha5 A G 5: 84,385,387 (GRCm39) S315P possibly damaging Het
Frmd4a A G 2: 4,610,873 (GRCm39) T1012A probably benign Het
Fxr2 G A 11: 69,532,416 (GRCm39) probably null Het
Hcn4 T A 9: 58,765,010 (GRCm39) V534E unknown Het
Insyn1 A G 9: 58,406,533 (GRCm39) I148V probably benign Het
Kif16b T A 2: 142,554,362 (GRCm39) H812L probably benign Het
Krt14 T A 11: 100,094,786 (GRCm39) R451S probably benign Het
Man2b1 A G 8: 85,811,108 (GRCm39) T80A probably damaging Het
Nedd4l A G 18: 65,307,305 (GRCm39) T383A probably damaging Het
Pcdha9 T A 18: 37,131,707 (GRCm39) L259M possibly damaging Het
Pdgfd T C 9: 6,293,818 (GRCm39) C131R probably damaging Het
Prrc2a C G 17: 35,374,396 (GRCm39) R1418P probably damaging Het
Ptpra G T 2: 30,327,589 (GRCm39) E114D probably damaging Het
Ptprt A T 2: 161,395,760 (GRCm39) C1157S probably damaging Het
Rnf126 A T 10: 79,597,397 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,297,202 (GRCm39) V748A probably damaging Het
Serinc5 T A 13: 92,825,194 (GRCm39) S208T probably benign Het
Sftpb A G 6: 72,282,639 (GRCm39) I74V possibly damaging Het
Slc22a14 A C 9: 118,999,643 (GRCm39) I516S possibly damaging Het
Slco2a1 G A 9: 102,951,704 (GRCm39) C411Y possibly damaging Het
Spata31f1e T A 4: 42,793,111 (GRCm39) L340F probably damaging Het
Tent5a G T 9: 85,208,509 (GRCm39) R105S probably damaging Het
Tet3 G A 6: 83,380,426 (GRCm39) P581S probably benign Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Tnrc6b T A 15: 80,763,385 (GRCm39) W296R probably damaging Het
Trpm1 T A 7: 63,890,343 (GRCm39) L982H probably damaging Het
Ttn C A 2: 76,550,862 (GRCm39) R23183I possibly damaging Het
Tuft1 T A 3: 94,542,726 (GRCm39) Y46F probably damaging Het
Vmn1r167 T A 7: 23,205,014 (GRCm39) M1L probably null Het
Zfp808 A G 13: 62,319,646 (GRCm39) R292G possibly damaging Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G probably benign Het
Zp2 C T 7: 119,741,136 (GRCm39) M129I 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
IGL02117:Hrh4 APN 18 13,155,477 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-06-22