Mutagenetix > Incidental Mutation

Incidental Mutation 'R9796:Hrh2'

734958

Institutional Source

Beutler Lab

Gene Symbol

Hrh2

Ensembl Gene

ENSMUSG00000034987

Gene Name

histamine receptor H2

Synonyms

H2r

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9796 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54346148-54390199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54375241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 359 (T359I)

Ref Sequence

ENSEMBL: ENSMUSP00000038170 (fasta)

Gene Model

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

AlphaFold

P97292

Predicted Effect

probably benign
Transcript: ENSMUST00000038101
AA Change: T359I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038170
Gene: ENSMUSG00000034987
AA Change: T359I

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

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. 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	T	10: 29,101,349 (GRCm39)	T574I	possibly damaging	Het
Aadac	T	G	3: 59,945,882 (GRCm39)	V184G	probably damaging	Het
Adam6b	G	A	12: 113,454,272 (GRCm39)	C363Y	probably damaging	Het
Adamts8	T	A	9: 30,862,569 (GRCm39)	I258N	probably damaging	Het
Adarb2	C	T	13: 8,619,852 (GRCm39)	L113F	probably damaging	Het
Aff4	A	G	11: 53,302,824 (GRCm39)	N1099S	probably damaging	Het
Alg10b	G	T	15: 90,108,728 (GRCm39)	A30S	possibly damaging	Het
Als2	T	A	1: 59,209,601 (GRCm39)	E1460D	probably benign	Het
Ascc3	C	T	10: 50,608,801 (GRCm39)	R1515*	probably null	Het
Asxl2	C	T	12: 3,546,508 (GRCm39)	P431S	probably benign	Het
AU018091	A	T	7: 3,213,785 (GRCm39)	V153D	probably damaging	Het
Cd177	A	G	7: 24,459,169 (GRCm39)	V80A	probably benign	Het
Cdc16	G	T	8: 13,807,693 (GRCm39)		probably benign	Het
Cdk14	A	G	5: 5,316,012 (GRCm39)	S4P	probably benign	Het
Ctu2	A	T	8: 123,202,989 (GRCm39)	Y8F	probably benign	Het
Dnhd1	T	C	7: 105,342,537 (GRCm39)	F1294L	probably damaging	Het
Epha7	A	G	4: 28,817,457 (GRCm39)	D37G	probably damaging	Het
Fan1	T	A	7: 64,022,278 (GRCm39)	N325I	probably benign	Het
Fbn1	T	A	2: 125,158,941 (GRCm39)	M2275L	probably benign	Het
Fbxo38	T	C	18: 62,674,055 (GRCm39)	K9E	possibly damaging	Het
Gm3696	T	C	14: 18,435,140 (GRCm39)	N48S	possibly damaging	Het
Greb1l	A	G	18: 10,538,233 (GRCm39)	E1082G	possibly damaging	Het
Gtdc1	A	T	2: 44,715,386 (GRCm39)	N52K	probably benign	Het
Ifi44l	A	G	3: 151,468,419 (GRCm39)	V37A		Het
Igfn1	C	A	1: 135,897,611 (GRCm39)	W985L	probably benign	Het
Il22b	A	G	10: 118,130,081 (GRCm39)	S108P	probably benign	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Klk1	T	C	7: 43,877,965 (GRCm39)	W74R	possibly damaging	Het
Lmntd2	A	T	7: 140,793,597 (GRCm39)	N96K	possibly damaging	Het
Lrch4	A	G	5: 137,635,269 (GRCm39)	H253R	probably damaging	Het
Lrrc8d	A	T	5: 105,959,917 (GRCm39)	D109V	probably benign	Het
Magi3	T	C	3: 103,928,291 (GRCm39)	T1004A	probably benign	Het
Mapk10	A	G	5: 103,135,101 (GRCm39)	V287A	possibly damaging	Het
Mtss2	G	A	8: 111,456,753 (GRCm39)		probably null	Het
Mybpc1	T	C	10: 88,406,497 (GRCm39)	I116V	possibly damaging	Het
Mylk4	T	A	13: 32,900,643 (GRCm39)	M296L	probably damaging	Het
Nav3	A	G	10: 109,527,969 (GRCm39)	F2238S	probably damaging	Het
Or11g26	G	T	14: 50,753,229 (GRCm39)	L189F	probably damaging	Het
Pax6	T	C	2: 105,522,541 (GRCm39)	F243L	probably damaging	Het
Pcdhb22	G	A	18: 37,652,404 (GRCm39)	E34K	possibly damaging	Het
Pdzrn4	T	A	15: 92,578,353 (GRCm39)	F359I	possibly damaging	Het
Prkn	A	T	17: 11,456,554 (GRCm39)	D126V	possibly damaging	Het
Rnf168	C	T	16: 32,117,872 (GRCm39)	R478C	probably damaging	Het
Sh3gl2	G	A	4: 85,295,765 (GRCm39)	V156I	possibly damaging	Het
Taf2	A	T	15: 54,910,832 (GRCm39)	M614K	probably damaging	Het
Tbc1d31	G	A	15: 57,833,179 (GRCm39)	V973M	probably damaging	Het
Tmem131l	T	G	3: 83,829,402 (GRCm39)	K1085T	probably damaging	Het
Tpst1	A	G	5: 130,163,300 (GRCm39)	T366A	probably benign	Het
Unc50	A	G	1: 37,471,679 (GRCm39)	T110A	probably benign	Het
Vmn2r60	A	G	7: 41,785,172 (GRCm39)	H128R	probably benign	Het
Vps13a	A	T	19: 16,631,828 (GRCm39)	N2602K	probably benign	Het
Vps13d	A	G	4: 144,854,505 (GRCm39)		probably null	Het
Vps50	A	G	6: 3,562,300 (GRCm39)	E465G	probably damaging	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
R7189:Hrh2	UTSW	13	54,375,270 (GRCm39)	missense	unknown
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

Predicted Primers

PCR Primer
(F):5'- TGCTGGTGTAGGGTAAAACATG -3'
(R):5'- TCTTGACACGGCACAGTTG -3'

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

Posted On

2022-11-14