Incidental Mutation 'IGL01519:Hrh1'
ID89409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hrh1
Ensembl Gene ENSMUSG00000053004
Gene Namehistamine receptor H1
SynonymsHir, Bphs
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01519
Quality Score
Status
Chromosome6
Chromosomal Location114397936-114483296 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 114480301 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 181 (E181A)
Ref Sequence ENSEMBL: ENSMUSP00000124460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088987] [ENSMUST00000160212] [ENSMUST00000160780] [ENSMUST00000161220] [ENSMUST00000161650]
Predicted Effect probably damaging
Transcript: ENSMUST00000088987
AA Change: E181A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086383
Gene: ENSMUSG00000053004
AA Change: E181A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 228 2.4e-6 PFAM
Pfam:7tm_1 44 469 1.1e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160212
Predicted Effect probably damaging
Transcript: ENSMUST00000160780
AA Change: E181A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124320
Gene: ENSMUSG00000053004
AA Change: E181A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 228 2.4e-6 PFAM
Pfam:7tm_1 44 469 3.3e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161220
AA Change: E181A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124037
Gene: ENSMUSG00000053004
AA Change: E181A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 228 2.4e-6 PFAM
Pfam:7tm_1 44 469 1.1e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161650
AA Change: E181A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124460
Gene: ENSMUSG00000053004
AA Change: E181A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 228 2.4e-6 PFAM
Pfam:7tm_1 44 469 1.1e-72 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 histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous null mutants show decrease in exploratory behavior, diurnal activity, aggression, anxiety, serotonin release, respiratory reaction to temperature and leptin response. Natural variants affect B. pertussis induced vasoactive amine sensitization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap17b T C X: 36,611,850 D668G probably damaging Het
Btbd3 A G 2: 138,279,777 M127V probably benign Het
Btbd9 T C 17: 30,299,601 T462A possibly damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chd1 G A 17: 17,378,569 G98R probably damaging Het
Ckap2 G A 8: 22,168,898 R610C probably benign Het
Col18a1 C T 10: 77,059,323 R1168H probably damaging Het
Csmd3 G A 15: 47,596,850 T3515I probably benign Het
Dcn A G 10: 97,483,523 Q54R probably damaging Het
Dock11 A G X: 35,963,353 I86V probably benign Het
Dram2 T A 3: 106,571,629 I179N possibly damaging Het
Fbn1 C T 2: 125,317,019 M2275I probably benign Het
Gga2 A G 7: 122,002,188 S231P probably damaging Het
Gk2 T A 5: 97,455,787 L397F probably damaging Het
Gm10436 T C 12: 88,177,561 R161G probably benign Het
Gm8122 T A 14: 43,235,239 I22L unknown Het
Golga4 A G 9: 118,527,092 E104G probably damaging Het
Herc2 G A 7: 56,103,950 R699H probably damaging Het
Lsm8 T C 6: 18,851,700 F50S probably damaging Het
Olfr161 T A 16: 3,592,534 I46N probably damaging Het
Pard6g A G 18: 80,079,856 D35G probably benign Het
Plod2 G A 9: 92,595,295 V347I probably benign Het
Snx13 T C 12: 35,138,472 probably benign Het
Taf1 T A X: 101,562,806 probably benign Het
Tarsl2 A G 7: 65,663,886 Y351C probably damaging Het
Tenm4 C A 7: 96,895,177 D2133E probably damaging Het
Thap7 A C 16: 17,528,745 probably benign Het
Tpr T A 1: 150,431,168 S1505T probably benign Het
Trav9-2 C T 14: 53,591,352 R60W probably damaging Het
Ttn A G 2: 76,878,348 probably benign Het
Other mutations in Hrh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Hrh1 APN 6 114480322 missense probably damaging 0.99
IGL01372:Hrh1 APN 6 114479997 missense probably damaging 1.00
IGL01453:Hrh1 APN 6 114481162 missense probably damaging 1.00
IGL02142:Hrh1 APN 6 114480243 missense probably damaging 1.00
IGL02352:Hrh1 APN 6 114480443 missense probably benign 0.43
IGL02359:Hrh1 APN 6 114480443 missense probably benign 0.43
FR4737:Hrh1 UTSW 6 114481123 missense possibly damaging 0.95
R0335:Hrh1 UTSW 6 114480232 missense probably damaging 1.00
R0635:Hrh1 UTSW 6 114480145 missense probably damaging 1.00
R1493:Hrh1 UTSW 6 114480877 missense probably damaging 0.98
R2283:Hrh1 UTSW 6 114480439 missense probably benign 0.00
R3870:Hrh1 UTSW 6 114480919 missense probably damaging 1.00
R4124:Hrh1 UTSW 6 114480619 missense probably benign 0.06
R4254:Hrh1 UTSW 6 114480001 missense probably damaging 1.00
R4764:Hrh1 UTSW 6 114480535 missense probably benign 0.00
R5270:Hrh1 UTSW 6 114481218 missense possibly damaging 0.75
R6189:Hrh1 UTSW 6 114479998 missense probably damaging 1.00
R6482:Hrh1 UTSW 6 114480763 missense possibly damaging 0.93
R7495:Hrh1 UTSW 6 114480673 missense probably benign 0.05
R7683:Hrh1 UTSW 6 114479787 missense probably benign
R8041:Hrh1 UTSW 6 114479917 missense not run
Posted On2013-12-03