Incidental Mutation 'IGL00839:Hrh1'
ID 11338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hrh1
Ensembl Gene ENSMUSG00000053004
Gene Name histamine receptor H1
Synonyms Hir, Bphs
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00839
Quality Score
Status
Chromosome 6
Chromosomal Location 114374897-114459432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 114457283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 188 (T188I)
Ref Sequence ENSEMBL: ENSMUSP00000124460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088987] [ENSMUST00000160212] [ENSMUST00000160780] [ENSMUST00000161220] [ENSMUST00000161650]
AlphaFold P70174
Predicted Effect probably damaging
Transcript: ENSMUST00000088987
AA Change: T188I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086383
Gene: ENSMUSG00000053004
AA Change: T188I

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: T188I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124320
Gene: ENSMUSG00000053004
AA Change: T188I

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: T188I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124037
Gene: ENSMUSG00000053004
AA Change: T188I

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: T188I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124460
Gene: ENSMUSG00000053004
AA Change: T188I

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,873 (GRCm39) S1031T probably benign Het
a T A 2: 154,887,593 (GRCm39) F18I probably benign Het
Acsl4 A T X: 141,122,948 (GRCm39) N421K possibly damaging Het
Ampd1 A G 3: 103,007,010 (GRCm39) E745G possibly damaging Het
Ankrd44 T C 1: 54,706,594 (GRCm39) N436D probably benign Het
Ap1s2 A G X: 162,709,951 (GRCm39) Y160C probably damaging Het
Bms1 C T 6: 118,382,252 (GRCm39) V429M probably benign Het
Cep57l1 T C 10: 41,607,089 (GRCm39) E158G probably damaging Het
Cldn34b4 T A X: 75,440,955 (GRCm39) C71S probably damaging Het
Col1a2 C T 6: 4,531,095 (GRCm39) probably benign Het
Crisp3 T G 17: 40,550,147 (GRCm39) probably null Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Defa24 T A 8: 22,224,713 (GRCm39) L54H probably damaging Het
Dennd1a A G 2: 37,706,994 (GRCm39) V504A probably benign Het
Eloa G A 4: 135,738,670 (GRCm39) R97C probably damaging Het
Espl1 T C 15: 102,228,982 (GRCm39) probably benign Het
Fgb T A 3: 82,950,598 (GRCm39) R385S possibly damaging Het
Glod4 T A 11: 76,124,104 (GRCm39) H223L probably benign Het
Hsph1 G T 5: 149,541,919 (GRCm39) A769D possibly damaging Het
Jak2 C T 19: 29,279,047 (GRCm39) P933S probably damaging Het
Lrrd1 T A 5: 3,900,017 (GRCm39) D107E probably benign Het
Osbpl8 T A 10: 111,127,371 (GRCm39) S776R probably benign Het
Pcna C T 2: 132,093,340 (GRCm39) V136I probably benign Het
Pde11a A G 2: 76,045,729 (GRCm39) F365S probably damaging Het
Pi15 A G 1: 17,691,747 (GRCm39) H183R probably damaging Het
Plce1 A G 19: 38,687,006 (GRCm39) Y638C probably damaging Het
Pnpla6 A G 8: 3,592,299 (GRCm39) D1196G probably benign Het
Pramel26 T C 4: 143,539,293 (GRCm39) T67A probably benign Het
Psg22 A G 7: 18,456,893 (GRCm39) I220V probably benign Het
Rap1gap2 A T 11: 74,328,274 (GRCm39) Y97N probably damaging Het
Taf2 A T 15: 54,909,174 (GRCm39) C690* probably null Het
Taf3 A T 2: 9,957,728 (GRCm39) D146E probably damaging Het
Tnrc6c A G 11: 117,605,011 (GRCm39) T49A possibly damaging Het
Trdn T C 10: 33,347,602 (GRCm39) probably null Het
Ttc29 C T 8: 79,060,385 (GRCm39) T435I probably benign Het
Vps37b T C 5: 124,148,814 (GRCm39) T74A possibly damaging Het
Zbtb11 T A 16: 55,820,965 (GRCm39) Y687* probably null Het
Other mutations in Hrh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Hrh1 APN 6 114,456,958 (GRCm39) missense probably damaging 1.00
IGL01453:Hrh1 APN 6 114,458,123 (GRCm39) missense probably damaging 1.00
IGL01519:Hrh1 APN 6 114,457,262 (GRCm39) missense probably damaging 1.00
IGL02142:Hrh1 APN 6 114,457,204 (GRCm39) missense probably damaging 1.00
IGL02352:Hrh1 APN 6 114,457,404 (GRCm39) missense probably benign 0.43
IGL02359:Hrh1 APN 6 114,457,404 (GRCm39) missense probably benign 0.43
FR4737:Hrh1 UTSW 6 114,458,084 (GRCm39) missense possibly damaging 0.95
R0335:Hrh1 UTSW 6 114,457,193 (GRCm39) missense probably damaging 1.00
R0635:Hrh1 UTSW 6 114,457,106 (GRCm39) missense probably damaging 1.00
R1493:Hrh1 UTSW 6 114,457,838 (GRCm39) missense probably damaging 0.98
R2283:Hrh1 UTSW 6 114,457,400 (GRCm39) missense probably benign 0.00
R3870:Hrh1 UTSW 6 114,457,880 (GRCm39) missense probably damaging 1.00
R4124:Hrh1 UTSW 6 114,457,580 (GRCm39) missense probably benign 0.06
R4254:Hrh1 UTSW 6 114,456,962 (GRCm39) missense probably damaging 1.00
R4764:Hrh1 UTSW 6 114,457,496 (GRCm39) missense probably benign 0.00
R5270:Hrh1 UTSW 6 114,458,179 (GRCm39) missense possibly damaging 0.75
R6189:Hrh1 UTSW 6 114,456,959 (GRCm39) missense probably damaging 1.00
R6482:Hrh1 UTSW 6 114,457,724 (GRCm39) missense possibly damaging 0.93
R7495:Hrh1 UTSW 6 114,457,634 (GRCm39) missense probably benign 0.05
R7683:Hrh1 UTSW 6 114,456,748 (GRCm39) missense probably benign
R8041:Hrh1 UTSW 6 114,456,878 (GRCm39) missense not run
R8131:Hrh1 UTSW 6 114,457,253 (GRCm39) missense probably benign 0.10
R8354:Hrh1 UTSW 6 114,457,814 (GRCm39) missense probably benign 0.05
R8454:Hrh1 UTSW 6 114,457,814 (GRCm39) missense probably benign 0.05
R8502:Hrh1 UTSW 6 114,457,966 (GRCm39) missense probably damaging 1.00
R8558:Hrh1 UTSW 6 114,457,564 (GRCm39) missense probably benign
R9600:Hrh1 UTSW 6 114,457,453 (GRCm39) missense probably benign 0.31
R9703:Hrh1 UTSW 6 114,457,979 (GRCm39) missense probably benign 0.01
R9774:Hrh1 UTSW 6 114,457,241 (GRCm39) missense probably benign 0.01
Posted On 2012-12-06