Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Hrh2'

288126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hrh2

Ensembl Gene

ENSMUSG00000034987

Gene Name

histamine receptor H2

Synonyms

H2r

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

54346148-54390199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54368669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 215 (I215T)

Ref Sequence

ENSEMBL: ENSMUSP00000147413 (fasta)

Gene Model

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

AlphaFold

P97292

Predicted Effect

probably damaging
Transcript: ENSMUST00000038101
AA Change: I215T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038170
Gene: ENSMUSG00000034987
AA Change: I215T

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

noncoding transcript
Transcript: ENSMUST00000160797

Predicted Effect

probably damaging
Transcript: ENSMUST00000209846
AA Change: I215T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211742
AA Change: I215T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

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. 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
1700123K08Rik	A	G	5: 138,561,838 (GRCm39)	F116S	probably damaging	Het
Abhd18	G	A	3: 40,884,662 (GRCm39)		probably null	Het
Akr1c6	G	T	13: 4,488,496 (GRCm39)	C34F	probably benign	Het
Ankef1	T	A	2: 136,386,695 (GRCm39)	I180N	possibly damaging	Het
Ap1b1	G	A	11: 4,969,294 (GRCm39)	V217I	probably benign	Het
Arhgap27	T	C	11: 103,223,989 (GRCm39)	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,170,627 (GRCm39)	T1136A	probably benign	Het
Ascc3	T	A	10: 50,604,250 (GRCm39)	Y1323*	probably null	Het
Bsx	A	C	9: 40,785,517 (GRCm39)	Q15P	probably benign	Het
Cdh20	A	G	1: 104,881,764 (GRCm39)	I410V	probably null	Het
Cfhr4	T	A	1: 139,708,835 (GRCm39)	E24D	probably benign	Het
Col20a1	A	G	2: 180,648,952 (GRCm39)	D945G	probably damaging	Het
Cox20	A	G	1: 178,150,043 (GRCm39)		probably null	Het
Cplane1	A	G	15: 8,204,509 (GRCm39)	K96E	probably damaging	Het
Cpne9	A	G	6: 113,270,699 (GRCm39)	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,439,444 (GRCm39)	T33A	probably benign	Het
Dvl3	A	G	16: 20,342,493 (GRCm39)	R149G	possibly damaging	Het
Dysf	A	G	6: 84,163,446 (GRCm39)	I1624V	possibly damaging	Het
Echs1	A	T	7: 139,691,623 (GRCm39)	L167Q	probably damaging	Het
Ect2	A	T	3: 27,192,868 (GRCm39)	N358K	probably benign	Het
Eml4	A	G	17: 83,748,795 (GRCm39)	I230V	probably benign	Het
Fut10	A	G	8: 31,726,286 (GRCm39)	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,299,483 (GRCm39)	N401K	probably damaging	Het
Gm4795	C	T	10: 44,882,735 (GRCm39)		noncoding transcript	Het
Gm5592	C	A	7: 40,936,212 (GRCm39)	T238N	probably benign	Het
Gm9892	T	C	8: 52,649,260 (GRCm39)		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388 (GRCm39)	M134I	possibly damaging	Het
Grk3	A	G	5: 113,085,669 (GRCm39)	Y314H	probably damaging	Het
Ilkap	A	G	1: 91,312,960 (GRCm39)		probably null	Het
Inpp4a	T	C	1: 37,407,384 (GRCm39)	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Lmo7	C	T	14: 102,137,502 (GRCm39)		probably benign	Het
Luc7l3	C	T	11: 94,183,819 (GRCm39)	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,205,515 (GRCm39)	I219S	probably benign	Het
Myo9b	G	A	8: 71,806,768 (GRCm39)	E1581K	probably damaging	Het
Nfs1	T	A	2: 155,966,191 (GRCm39)	Q458L	probably damaging	Het
Numb	A	T	12: 83,878,692 (GRCm39)		probably null	Het
Nxf1	G	A	19: 8,741,514 (GRCm39)		probably null	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or52z1	A	G	7: 103,437,475 (GRCm39)	V3A	probably benign	Het
Pacc1	A	G	1: 191,080,605 (GRCm39)	E275G	possibly damaging	Het
Pde2a	A	T	7: 101,152,550 (GRCm39)	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 110,666,505 (GRCm39)	L1011F	probably benign	Het
Potefam3e	T	C	8: 19,797,815 (GRCm39)		probably null	Het
Prss27	G	T	17: 24,264,571 (GRCm39)	V245L	probably benign	Het
Rbm7	T	C	9: 48,405,411 (GRCm39)	N56S	probably damaging	Het
Rftn1	T	C	17: 50,343,998 (GRCm39)	I97V	possibly damaging	Het
Ric3	T	C	7: 108,647,287 (GRCm39)	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323 (GRCm39)		probably benign	Het
Sall2	T	C	14: 52,553,022 (GRCm39)	T56A	probably damaging	Het
Sgk1	T	C	10: 21,871,440 (GRCm39)	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,050,223 (GRCm39)	A281T	probably damaging	Het
Spta1	A	G	1: 174,002,029 (GRCm39)	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,900,092 (GRCm39)	D468G	probably damaging	Het
Tmem108	A	T	9: 103,376,981 (GRCm39)	V156E	probably benign	Het
Tnfaip3	T	G	10: 18,880,215 (GRCm39)	R617S	probably benign	Het
Traf3	A	G	12: 111,204,031 (GRCm39)	M7V	probably benign	Het
Ubr3	T	A	2: 69,809,741 (GRCm39)	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,718,795 (GRCm39)	V716A	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
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
R9796:Hrh2	UTSW	13	54,375,241 (GRCm39)	missense	probably benign

Posted On

2015-04-16