Incidental Mutation 'R6189:Hrh1'
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ID502378
Institutional Source Beutler Lab
Gene Symbol Hrh1
Ensembl Gene ENSMUSG00000053004
Gene Namehistamine receptor H1
SynonymsHir, Bphs
MMRRC Submission 044329-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6189 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location114397936-114483296 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 114479998 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 80 (V80D)
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: V80D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086383
Gene: ENSMUSG00000053004
AA Change: V80D

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: V80D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124320
Gene: ENSMUSG00000053004
AA Change: V80D

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: V80D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124037
Gene: ENSMUSG00000053004
AA Change: V80D

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: V80D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124460
Gene: ENSMUSG00000053004
AA Change: V80D

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 228 2.4e-6 PFAM
Pfam:7tm_1 44 469 1.1e-72 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,167,054 probably benign Het
Abca8a T C 11: 110,030,884 D1448G probably damaging Het
Actn2 C T 13: 12,276,440 D693N probably damaging Het
Adam3 A C 8: 24,711,336 I267R probably benign Het
Akap2 A G 4: 57,855,928 E419G probably benign Het
Aldh1l2 A G 10: 83,508,013 probably null Het
C4bp T C 1: 130,636,819 Y376C probably damaging Het
Cacna1h A G 17: 25,397,844 W101R probably damaging Het
Ccdc84 G A 9: 44,410,321 R328C probably benign Het
Ccdc97 T A 7: 25,716,098 T47S probably benign Het
Cnot6l G A 5: 96,098,277 T171I probably benign Het
Cntnap2 T A 6: 47,271,298 S1213T probably damaging Het
Cxcl10 A T 5: 92,348,113 L55Q probably benign Het
Cyp1a1 T C 9: 57,700,683 V198A probably damaging Het
Dclre1b A G 3: 103,803,533 V354A probably damaging Het
Dmxl1 C T 18: 49,893,335 H1837Y probably benign Het
Dnajc13 G C 9: 104,213,886 D665E probably benign Het
Dnmbp T C 19: 43,890,309 T108A probably benign Het
Dnmbp T A 19: 43,901,511 T606S probably benign Het
Dok5 T A 2: 170,800,851 I23N probably damaging Het
Eml2 G A 7: 19,201,163 V432I probably damaging Het
Epha5 A T 5: 84,237,540 F311I probably damaging Het
Erbb4 T A 1: 68,043,916 M1059L probably benign Het
Fbxo40 A G 16: 36,966,164 I681T probably benign Het
Flg2 T A 3: 93,220,074 C2098S unknown Het
Gm10471 A G 5: 26,085,693 I160T probably benign Het
Gm11397 A T 13: 33,404,444 E337D probably benign Het
Gpr87 T A 3: 59,179,229 D285V probably damaging Het
Hunk G A 16: 90,487,881 R351K probably benign Het
Ifna12 A G 4: 88,603,011 W100R probably damaging Het
Ift57 G A 16: 49,763,813 G310S probably damaging Het
Igf1r T A 7: 68,207,336 Y1015* probably null Het
Igkv14-130 T C 6: 67,791,448 I96T probably damaging Het
Il34 C T 8: 110,742,718 S155N probably benign Het
Itga7 T C 10: 128,950,403 S938P possibly damaging Het
Itgam A G 7: 128,112,504 M764V probably benign Het
Lao1 T A 4: 118,967,880 M299K probably benign Het
Lnpep A T 17: 17,566,739 S533T possibly damaging Het
Lrp4 T C 2: 91,475,234 V283A possibly damaging Het
Magi3 G T 3: 104,050,865 H635N probably damaging Het
Mecr A T 4: 131,865,254 probably null Het
Mgrn1 T C 16: 4,910,810 probably null Het
Micalcl A C 7: 112,412,880 N646H probably damaging Het
Mymk C T 2: 27,067,365 V39I possibly damaging Het
Nav3 T C 10: 109,720,019 S1684G probably damaging Het
Ntn5 A T 7: 45,693,220 D330V probably benign Het
Nupl2 G T 5: 24,175,454 G149V probably damaging Het
Nutm2 T A 13: 50,469,738 V157D possibly damaging Het
Obscn T C 11: 59,069,934 I3460V probably benign Het
Olfr1037 A T 2: 86,084,913 M288K possibly damaging Het
Pcdh15 C T 10: 74,342,651 A580V probably null Het
Pcdhb10 T A 18: 37,412,403 H177Q probably damaging Het
Pitx2 T C 3: 129,218,469 Y130H probably damaging Het
Pmch G T 10: 88,091,386 probably null Het
Pofut2 T A 10: 77,268,586 I399N probably damaging Het
Prr36 C A 8: 4,214,177 probably benign Het
Ptprq C A 10: 107,517,887 C2256F probably damaging Het
Rassf5 G A 1: 131,244,979 A51V probably damaging Het
Retnla A G 16: 48,842,895 I54V probably benign Het
Rimbp2 A G 5: 128,803,897 L142P probably benign Het
Ripk1 A G 13: 34,032,501 T564A probably benign Het
Robo4 G A 9: 37,403,533 E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,579,906 probably benign Homo
Rusc1 A T 3: 89,089,012 L132Q probably damaging Het
Setd1a T C 7: 127,778,283 probably null Het
Slc38a6 A T 12: 73,310,196 K122M probably damaging Het
Susd5 A T 9: 114,095,658 D203V probably damaging Het
Trip4 G A 9: 65,879,152 R110* probably null Het
Tuba4a T A 1: 75,216,874 I95F probably benign Het
Ube2q2 T A 9: 55,162,983 S70T probably benign Het
Umodl1 A G 17: 30,996,282 I1027V possibly damaging Het
Unc80 G A 1: 66,677,471 V2917I probably benign Het
Vmn1r70 T A 7: 10,633,671 C29S probably benign Het
Vmn2r94 A T 17: 18,257,734 D138E probably benign Het
Wee2 C T 6: 40,449,683 H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,412,514 probably benign Het
Zfp872 A T 9: 22,197,131 D42V probably benign Het
Zic5 T G 14: 122,464,974 D115A unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTCCGAAGACAAGATGTGTGAG -3'
(R):5'- CACGGGTCTTGGTTCGATAC -3'

Sequencing Primer
(F):5'- AACAGGACAGCCATGGC -3'
(R):5'- TGCTGGCCACATAATCCA -3'
Posted On2018-02-27