Mutagenetix > Incidental Mutation

Incidental Mutation 'R7189:Hrh2'

559513

Institutional Source

Beutler Lab

Gene Symbol

Hrh2

Ensembl Gene

ENSMUSG00000034987

Gene Name

histamine receptor H2

Synonyms

H2r

MMRRC Submission

045238-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54346148-54390199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54375270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 369 (S369G)

Ref Sequence

ENSEMBL: ENSMUSP00000038170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038101] [ENSMUST00000209846] [ENSMUST00000211742]

AlphaFold

P97292

Predicted Effect

unknown
Transcript: ENSMUST00000038101
AA Change: S369G

SMART Domains

Protein: ENSMUSP00000038170
Gene: ENSMUSG00000034987
AA Change: S369G

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000209846

Predicted Effect

probably benign
Transcript: ENSMUST00000211742

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (57/60)

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. 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	T	2: 103,397,861 (GRCm39)	A264S	probably benign	Het
Atosa	T	C	9: 74,911,633 (GRCm39)	C42R	probably damaging	Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bmp4	A	G	14: 46,621,456 (GRCm39)	S363P	probably damaging	Het
Cfap54	C	A	10: 92,773,590 (GRCm39)	A2077S	unknown	Het
Chrna7	T	C	7: 62,755,775 (GRCm39)	D257G	probably damaging	Het
Chrnd	C	T	1: 87,118,780 (GRCm39)	R46W	probably damaging	Het
Cntn2	A	G	1: 132,444,824 (GRCm39)	I851T	probably damaging	Het
Col3a1	T	A	1: 45,372,817 (GRCm39)	I534K	unknown	Het
Cyp3a25	A	T	5: 145,939,870 (GRCm39)	L46I	probably benign	Het
Dnah7b	G	C	1: 46,281,302 (GRCm39)	G2788R	probably damaging	Het
Dnpep	T	C	1: 75,290,074 (GRCm39)	E301G	probably damaging	Het
Efcab3	T	C	11: 104,986,690 (GRCm39)	S30P	probably benign	Het
Elk4	A	G	1: 131,947,127 (GRCm39)	I373V	probably damaging	Het
Fam161b	T	C	12: 84,395,420 (GRCm39)	S508G	probably damaging	Het
Fgf10	A	G	13: 118,925,659 (GRCm39)	E146G	probably benign	Het
Fsip2	A	G	2: 82,823,581 (GRCm39)	D6438G	possibly damaging	Het
Garin2	C	T	12: 78,758,982 (GRCm39)	P101S	probably benign	Het
Gask1b	T	A	3: 79,794,114 (GRCm39)	L194*	probably null	Het
Gm49355	T	A	14: 12,296,672 (GRCm38)	C10*	probably null	Het
Hfm1	A	G	5: 107,049,569 (GRCm39)		probably null	Het
Hivep3	T	C	4: 119,989,416 (GRCm39)	S1956P	probably damaging	Het
Hspg2	T	C	4: 137,260,872 (GRCm39)		probably null	Het
Hsph1	T	C	5: 149,553,925 (GRCm39)	Y181C	probably damaging	Het
Kcnh8	A	G	17: 53,201,145 (GRCm39)		probably null	Het
Kctd1	C	T	18: 15,195,700 (GRCm39)	E308K	possibly damaging	Het
Kdm8	A	T	7: 125,060,103 (GRCm39)	Y335F	probably damaging	Het
Kif2b	C	G	11: 91,467,963 (GRCm39)	G107R	probably benign	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lepr	T	C	4: 101,671,961 (GRCm39)	V995A	probably benign	Het
Mfsd4a	A	T	1: 131,980,131 (GRCm39)	V375E	probably damaging	Het
Mgl2	G	T	11: 70,027,869 (GRCm39)	W359L	probably damaging	Het
Muc5b	C	A	7: 141,414,798 (GRCm39)	Y2581*	probably null	Het
Nol10	G	T	12: 17,423,562 (GRCm39)		probably null	Het
Or4k47	T	A	2: 111,451,538 (GRCm39)	M294L	probably benign	Het
Or52n3	A	T	7: 104,530,348 (GRCm39)	K145*	probably null	Het
Otud3	C	T	4: 138,636,865 (GRCm39)	V99M	probably damaging	Het
Parvb	T	C	15: 84,187,672 (GRCm39)		probably null	Het
Pclo	C	A	5: 14,571,932 (GRCm39)	P439Q	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,419,302 (GRCm39)	H100Q	possibly damaging	Het
Plce1	A	T	19: 38,748,581 (GRCm39)	I1771F	probably damaging	Het
Plxna2	G	T	1: 194,483,366 (GRCm39)	R1559L	possibly damaging	Het
Ppp2r3d	T	A	9: 101,003,621 (GRCm39)	I416L	possibly damaging	Het
Pramel42	T	A	5: 94,685,610 (GRCm39)	Y423*	probably null	Het
Robo1	C	A	16: 72,757,039 (GRCm39)	C333*	probably null	Het
Ryr2	A	T	13: 11,898,009 (GRCm39)	Y129N	probably damaging	Het
Schip1	A	T	3: 68,525,032 (GRCm39)	K359M	probably damaging	Het
Schip1	G	T	3: 68,525,033 (GRCm39)	K359N	probably damaging	Het
Sh2d2a	T	A	3: 87,755,668 (GRCm39)	S65T	possibly damaging	Het
Ssrp1	G	A	2: 84,875,906 (GRCm39)	M588I	probably benign	Het
Stim2	T	A	5: 54,273,470 (GRCm39)	C567S	probably benign	Het
Syne1	C	A	10: 5,374,295 (GRCm39)	A171S	probably benign	Het
Tigd3	A	G	19: 5,943,050 (GRCm39)	S27P	probably benign	Het
Vipr1	C	A	9: 121,493,620 (GRCm39)	Q224K	probably damaging	Het
Vmn1r75	T	A	7: 11,614,475 (GRCm39)	M69K	possibly damaging	Het
Vmn2r72	T	G	7: 85,404,125 (GRCm39)	D22A	probably benign	Het
Zbtb24	G	A	10: 41,340,472 (GRCm39)	V523I	probably benign	Het
Zbtb43	A	G	2: 33,352,307 (GRCm39)	F20S	probably benign	Het

Other mutations in Hrh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00720:Hrh2	APN	13	54,368,840 (GRCm39)	missense	possibly damaging	0.83
IGL02044:Hrh2	APN	13	54,368,965 (GRCm39)	missense	probably benign	0.09
IGL02318:Hrh2	APN	13	54,368,669 (GRCm39)	missense	probably damaging	0.99
IGL02468:Hrh2	APN	13	54,368,828 (GRCm39)	missense	probably benign	0.00
IGL02834:Hrh2	APN	13	54,369,019 (GRCm39)	missense	probably benign
P0012:Hrh2	UTSW	13	54,368,447 (GRCm39)	missense	probably benign	0.00
R4688:Hrh2	UTSW	13	54,368,820 (GRCm39)	missense	probably benign	0.06
R7207:Hrh2	UTSW	13	54,368,266 (GRCm39)	missense	possibly damaging	0.48
R7664:Hrh2	UTSW	13	54,368,875 (GRCm39)	missense	probably damaging	1.00
R7747:Hrh2	UTSW	13	54,368,549 (GRCm39)	missense	possibly damaging	0.63
R7762:Hrh2	UTSW	13	54,368,058 (GRCm39)	nonsense	probably null
R8053:Hrh2	UTSW	13	54,368,104 (GRCm39)	missense	probably benign
R8726:Hrh2	UTSW	13	54,368,171 (GRCm39)	missense	probably damaging	1.00
R9287:Hrh2	UTSW	13	54,368,358 (GRCm39)	missense	probably benign	0.14
R9342:Hrh2	UTSW	13	54,368,222 (GRCm39)	missense	probably damaging	1.00
R9699:Hrh2	UTSW	13	54,368,299 (GRCm39)	missense	probably damaging	1.00
R9796:Hrh2	UTSW	13	54,375,241 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGTGTAGGGTAAAACATGGATACC -3'
(R):5'- GGATGAAAACCACGTTCCCC -3'

Sequencing Primer
(F):5'- ACACTCTGGGACTTCAGGCATATG -3'
(R):5'- CATTGCCACTGCCAGAGATTC -3'

Posted On

2019-06-26