Mutagenetix > Incidental Mutation

Incidental Mutation 'R8053:Hrh2'

619209

Institutional Source

Beutler Lab

Gene Symbol

Hrh2

Ensembl Gene

ENSMUSG00000034987

Gene Name

histamine receptor H2

Synonyms

H2r

MMRRC Submission

067490-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54346148-54390199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54368104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 27 (T27A)

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: T27A

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

SMART Domains

Protein: ENSMUSP00000038170
Gene: ENSMUSG00000034987
AA Change: T27A

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
AA Change: T27A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211742
AA Change: T27A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	T	12: 18,583,728 (GRCm39)	R263*	probably null	Het
Abca12	G	A	1: 71,388,328 (GRCm39)	R181*	probably null	Het
Adar	T	C	3: 89,654,592 (GRCm39)	L908P	probably damaging	Het
Ankrd55	C	T	13: 112,459,687 (GRCm39)	R94C	probably damaging	Het
Aopep	A	T	13: 63,338,345 (GRCm39)	K574*	probably null	Het
Carf	A	T	1: 60,167,197 (GRCm39)	T177S	probably benign	Het
Ccdc162	C	A	10: 41,520,577 (GRCm39)	G693V	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Chd4	G	T	6: 125,105,779 (GRCm39)	E1799*	probably null	Het
Chrna3	T	A	9: 54,922,674 (GRCm39)	N378I	probably benign	Het
Clec4a2	T	C	6: 123,104,998 (GRCm39)	V96A	probably benign	Het
Cntnap5b	T	A	1: 100,318,402 (GRCm39)	L683Q	probably damaging	Het
Crisp4	T	A	1: 18,194,498 (GRCm39)	Q208L	probably benign	Het
Crocc	A	G	4: 140,770,230 (GRCm39)		probably null	Het
Cyp2ab1	T	C	16: 20,133,018 (GRCm39)	E192G	probably benign	Het
Cyrib	T	C	15: 63,813,832 (GRCm39)	D155G	probably damaging	Het
Daglb	A	G	5: 143,489,024 (GRCm39)	K627R	probably benign	Het
Desi2	G	A	1: 178,065,482 (GRCm39)	W16*	probably null	Het
Dtx3l	T	C	16: 35,759,322 (GRCm39)		probably benign	Het
Elf2	A	G	3: 51,215,551 (GRCm39)	V53A	possibly damaging	Het
Eomes	A	G	9: 118,309,621 (GRCm39)	D325G	probably damaging	Het
Etl4	A	T	2: 20,666,774 (GRCm39)	L60F	probably damaging	Het
Exoc4	A	G	6: 33,309,191 (GRCm39)	D271G	probably benign	Het
F5	A	G	1: 164,020,338 (GRCm39)	I938V	probably benign	Het
Fdxr	T	A	11: 115,160,665 (GRCm39)	K290M	probably benign	Het
Fgd5	G	A	6: 91,966,425 (GRCm39)	S886N	probably benign	Het
Gm11595	G	A	11: 99,662,954 (GRCm39)	S242F	unknown	Het
Gm14322	A	T	2: 177,411,424 (GRCm39)	Q78L	probably damaging	Het
Gm8267	A	T	14: 44,962,307 (GRCm39)	S38T	possibly damaging	Het
Gpr75	A	T	11: 30,841,559 (GRCm39)	T155S	probably benign	Het
Hectd3	T	C	4: 116,858,055 (GRCm39)	S628P	possibly damaging	Het
Kif16b	G	A	2: 142,695,634 (GRCm39)	R157C	probably damaging	Het
Krt16	T	C	11: 100,137,613 (GRCm39)	Y364C	probably damaging	Het
Lrrc37	T	A	11: 103,495,392 (GRCm39)	K2809I	unknown	Het
Map2k5	T	A	9: 63,250,707 (GRCm39)	N95I	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Mthfd1	T	A	12: 76,327,282 (GRCm39)	D123E	probably damaging	Het
Muc2	A	T	7: 141,284,575 (GRCm39)	Y827F	probably benign	Het
Myh15	T	A	16: 48,963,302 (GRCm39)	M1081K	possibly damaging	Het
Nbeal1	A	G	1: 60,318,954 (GRCm39)	T1998A	probably damaging	Het
Neb	T	A	2: 52,176,029 (GRCm39)	T1477S	possibly damaging	Het
Nox4	C	A	7: 87,019,255 (GRCm39)	P416Q	probably damaging	Het
Or10ak7	A	G	4: 118,791,308 (GRCm39)	S246P	probably damaging	Het
Or1e31	T	C	11: 73,689,822 (GRCm39)	T254A	probably benign	Het
Or2j3	A	T	17: 38,616,101 (GRCm39)	F84I	probably benign	Het
Or4c123	A	T	2: 89,127,540 (GRCm39)	F25I	possibly damaging	Het
Or5g23	T	C	2: 85,439,234 (GRCm39)	T7A	probably damaging	Het
Pcdhga4	A	G	18: 37,819,308 (GRCm39)	K286E	probably benign	Het
Pde10a	A	G	17: 9,193,604 (GRCm39)	T679A	probably benign	Het
Phc2	C	T	4: 128,603,433 (GRCm39)	Q188*	probably null	Het
Pramel12	C	A	4: 143,144,208 (GRCm39)	Q185K	probably benign	Het
Prdm15	A	G	16: 97,636,807 (GRCm39)	M170T	probably benign	Het
Rab20	G	T	8: 11,504,443 (GRCm39)	Q86K	probably damaging	Het
Rev1	T	C	1: 38,102,222 (GRCm39)	I714V	possibly damaging	Het
Rexo2	A	G	9: 48,386,418 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,293,473 (GRCm39)	K75E		Het
Sdk2	C	T	11: 113,745,177 (GRCm39)	R706Q	probably damaging	Het
Sema3c	C	T	5: 17,860,020 (GRCm39)	T95I	probably benign	Het
Sh3rf2	T	A	18: 42,286,087 (GRCm39)	S527T	probably damaging	Het
Sis	A	T	3: 72,856,901 (GRCm39)	Y434*	probably null	Het
Slc16a6	G	A	11: 109,349,395 (GRCm39)	T222I	probably damaging	Het
Smad6	A	G	9: 63,927,789 (GRCm39)	L173P	probably damaging	Het
Sugct	T	A	13: 17,476,554 (GRCm39)	N310I	probably damaging	Het
Syne1	T	A	10: 5,002,658 (GRCm39)	K259*	probably null	Het
Taar6	A	G	10: 23,861,144 (GRCm39)	V134A	possibly damaging	Het
Tmem199	A	G	11: 78,398,612 (GRCm39)	I184T	possibly damaging	Het
Tnrc18	G	T	5: 142,736,385 (GRCm39)	D1530E	unknown	Het
Tnxb	G	A	17: 34,923,153 (GRCm39)	V2579M	probably damaging	Het
Vangl2	A	G	1: 171,832,303 (GRCm39)	F518L	probably damaging	Het
Vmn2r40	T	C	7: 8,911,245 (GRCm39)	T683A		Het
Wapl	C	T	14: 34,414,278 (GRCm39)	T380I	probably damaging	Het
Zfp874b	A	T	13: 67,622,217 (GRCm39)	H360Q	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
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'- AGCATTGGGTCAGTCACTACAC -3'
(R):5'- TAGATGTTGCAGAAGACCTGGC -3'

Sequencing Primer
(F):5'- GGGTCAGTCACTACACCCTCC -3'
(R):5'- TGGCCAAAGCTCCACTTG -3'

Posted On

2020-01-23