Incidental Mutation 'IGL01453:Hrh1'
ID84691
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 #IGL01453
Quality Score
Status
Chromosome6
Chromosomal Location114397936-114483296 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 114481162 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 468 (I468N)
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: I468N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086383
Gene: ENSMUSG00000053004
AA Change: I468N

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: I468N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124320
Gene: ENSMUSG00000053004
AA Change: I468N

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: I468N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124037
Gene: ENSMUSG00000053004
AA Change: I468N

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: I468N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124460
Gene: ENSMUSG00000053004
AA Change: I468N

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
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Abcb5 A G 12: 118,867,970 S1216P probably damaging Het
Abl1 A G 2: 31,778,977 T104A probably damaging Het
Adgrg6 A T 10: 14,420,458 M1066K possibly damaging Het
Armc1 T C 3: 19,144,430 N122S probably benign Het
Fat1 C T 8: 45,051,270 T4600M probably damaging Het
Krt34 A T 11: 100,040,090 L162Q probably damaging Het
Macrod2 A T 2: 140,452,572 probably benign Het
Mfsd9 C A 1: 40,790,478 probably benign Het
Nap1l1 C T 10: 111,492,978 T256I probably benign Het
Olfr1112 A G 2: 87,191,848 I54V probably benign Het
Olfr190 T C 16: 59,074,769 I104V probably benign Het
Olfr424 A G 1: 174,137,113 Y123C possibly damaging Het
Pard6a T A 8: 105,702,677 probably null Het
Pmm2 G A 16: 8,648,668 R119Q probably damaging Het
Por C T 5: 135,734,186 Q517* probably null Het
Ppil6 T C 10: 41,498,477 I118T probably benign Het
Psg26 A G 7: 18,480,074 V221A possibly damaging Het
Ptpru C A 4: 131,769,492 probably benign Het
Rpl27a T A 7: 109,519,625 V15E probably benign Het
Setd1b T C 5: 123,158,464 probably benign Het
Slc17a1 A G 13: 23,874,731 N56S probably damaging Het
Sybu A T 15: 44,672,805 D508E probably damaging Het
Tada2b A C 5: 36,476,342 N222K probably damaging Het
Tbcb T C 7: 30,231,202 probably null Het
Tmprss11f C A 5: 86,544,832 G78* probably null Het
Vmn2r65 T C 7: 84,940,500 Y736C probably damaging Het
Zc3h7a G A 16: 11,149,378 P517S probably benign Het
Zfp280d A G 9: 72,322,586 T392A possibly damaging Het
Zfp318 T A 17: 46,409,016 probably null 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
IGL01519:Hrh1 APN 6 114480301 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 On2013-11-11