Incidental Mutation 'IGL02834:Hrh2'
ID361580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hrh2
Ensembl Gene ENSMUSG00000034987
Gene Namehistamine receptor H2
SynonymsH2r
Accession Numbers

NCBI RefSeq: NM_001010973.2; MGI:108482

Is this an essential gene? Not available question?
Stock #IGL02834
Quality Score
Status
Chromosome13
Chromosomal Location54192129-54236180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54215000 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 332 (R332G)
Ref Sequence ENSEMBL: ENSMUSP00000147413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038101] [ENSMUST00000209846] [ENSMUST00000211742]
Predicted Effect probably benign
Transcript: ENSMUST00000038101
AA Change: R332G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038170
Gene: ENSMUSG00000034987
AA Change: R332G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 29 302 8.9e-13 PFAM
Pfam:7tm_1 35 287 1.1e-69 PFAM
low complexity region 315 326 N/A INTRINSIC
low complexity region 361 374 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160797
Predicted Effect probably benign
Transcript: ENSMUST00000209846
AA Change: R332G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211742
AA Change: R332G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 2182949; 3607154
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. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit enlarged folds in gastric mucosa, elevated serum gastrin levels, increased numbers of parietal and enterochromaffin-like cells, and lack of secretion of gastric acid in response to histamine or gastrin. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Targeted(2) Gene trapped(12)

Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530099J19Rik A T 13: 19,729,875 noncoding transcript Het
Arhgap10 A T 8: 77,365,100 L430Q probably damaging Het
Cc2d2a C T 5: 43,714,521 R900* probably null Het
Cd14 A G 18: 36,725,503 Y300H probably benign Het
Dgcr8 T A 16: 18,272,759 T584S probably benign Het
Epb41l5 C T 1: 119,623,955 G100D probably benign Het
Fat4 G A 3: 38,956,744 G1998R probably damaging Het
Fndc3b A T 3: 27,508,503 L279H probably damaging Het
Gabrr1 A G 4: 33,151,426 E114G probably damaging Het
Kif5a T C 10: 127,245,756 I180V probably benign Het
Lyg2 T A 1: 37,909,967 R105W probably damaging Het
Myc A G 15: 61,987,666 I64V probably damaging Het
Nrcam G A 12: 44,541,075 probably null Het
Ogdhl A G 14: 32,325,946 Y51C probably damaging Het
Olfr1339 C T 4: 118,734,606 L26F probably benign Het
Olfr631 T A 7: 103,929,394 C190* probably null Het
Pdlim3 A G 8: 45,917,532 R290G probably benign Het
Ppm1l G A 3: 69,549,343 A198T probably damaging Het
Prkd2 A G 7: 16,845,934 D119G probably damaging Het
Rapgef3 A T 15: 97,748,265 I820N probably damaging Het
Scnn1b A G 7: 121,912,062 Y324C probably damaging Het
Smc5 G A 19: 23,257,604 R289C probably benign Het
Vmn2r51 T A 7: 10,098,136 R508* probably null Het
Vps13c A T 9: 67,937,855 I2074L probably benign Het
Wdr64 T C 1: 175,805,849 probably benign Het
Ydjc C T 16: 17,147,289 P74L probably benign Het
Other mutations in Hrh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00720:Hrh2 APN 13 54214821 missense possibly damaging 0.83
IGL02044:Hrh2 APN 13 54214946 missense probably benign 0.09
IGL02318:Hrh2 APN 13 54214650 missense probably damaging 0.99
IGL02468:Hrh2 APN 13 54214809 missense probably benign 0.00
P0012:Hrh2 UTSW 13 54214428 missense probably benign 0.00
R4688:Hrh2 UTSW 13 54214801 missense probably benign 0.06
R7189:Hrh2 UTSW 13 54221251 missense unknown
R7207:Hrh2 UTSW 13 54214247 missense possibly damaging 0.48
Posted On2015-12-18