Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03281:Hrh4'

415594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hrh4

Ensembl Gene

ENSMUSG00000037346

Gene Name

histamine receptor H4

Synonyms

H4R

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL03281

Quality Score

Status

Chromosome

Chromosomal Location

13140047-13155939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13155526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 355 (V355A)

Ref Sequence

ENSEMBL: ENSMUSP00000041061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041676]

AlphaFold

Q91ZY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041676
AA Change: V355A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: V355A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	26	211	1e-5	PFAM
Pfam:7tm_1	32	360	8.1e-58	PFAM

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 a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased allergic response to airway inflammation and decreased Th2 responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,601 (GRCm39)	R361H	probably benign	Het
Abcd2	G	T	15: 91,035,876 (GRCm39)	T663K	probably damaging	Het
Btbd8	A	T	5: 107,651,742 (GRCm39)	T212S	probably benign	Het
Bud23	C	T	5: 135,092,741 (GRCm39)	R28H	probably benign	Het
Celsr2	T	C	3: 108,320,256 (GRCm39)	Y852C	probably damaging	Het
Dll1	C	A	17: 15,593,866 (GRCm39)	R167L	probably benign	Het
Hmgxb4	A	G	8: 75,750,790 (GRCm39)	T538A	probably damaging	Het
Hrnr	A	T	3: 93,230,158 (GRCm39)	E132V	probably benign	Het
Ighv7-1	A	T	12: 113,860,571 (GRCm39)		probably benign	Het
Kcnu1	A	T	8: 26,382,105 (GRCm39)	Q485L	probably null	Het
Lrp1b	T	A	2: 40,615,526 (GRCm39)	M3626L	probably benign	Het
Magea6	G	T	X: 153,707,623 (GRCm39)	C144*	probably null	Het
Map1a	G	T	2: 121,135,541 (GRCm39)	R1881L	probably damaging	Het
Naip2	T	A	13: 100,298,128 (GRCm39)	Y636F	probably damaging	Het
Or12j5	T	A	7: 140,083,713 (GRCm39)	I220F	probably damaging	Het
Or6c2	T	A	10: 129,362,272 (GRCm39)	F59I	probably benign	Het
Prg4	A	G	1: 150,325,839 (GRCm39)		probably benign	Het
Ptpn4	T	G	1: 119,587,642 (GRCm39)	Q900H	probably damaging	Het
Ralgps1	A	G	2: 33,062,428 (GRCm39)		probably null	Het
Rasgrp4	C	T	7: 28,845,450 (GRCm39)	A381V	possibly damaging	Het
Selenbp1	A	T	3: 94,844,621 (GRCm39)	K93*	probably null	Het
Skint5	T	A	4: 113,524,415 (GRCm39)	K855N	unknown	Het
Tssk4	T	C	14: 55,887,885 (GRCm39)	V27A	possibly damaging	Het
Ttc39a	C	A	4: 109,290,219 (GRCm39)	Q310K	possibly damaging	Het
Utp18	C	T	11: 93,766,784 (GRCm39)	V276I	probably damaging	Het
Vmn2r45	C	A	7: 8,486,603 (GRCm39)	L228F	probably damaging	Het

Other mutations in Hrh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Hrh4	APN	18	13,149,004 (GRCm39)	splice site	probably benign
IGL01544:Hrh4	APN	18	13,148,950 (GRCm39)	missense	probably benign	0.22
IGL01765:Hrh4	APN	18	13,140,252 (GRCm39)	missense	probably damaging	1.00
IGL02117:Hrh4	APN	18	13,155,477 (GRCm39)	missense	probably benign	0.02
IGL02559:Hrh4	APN	18	13,140,301 (GRCm39)	critical splice donor site	probably null
IGL03277:Hrh4	APN	18	13,148,940 (GRCm39)	missense	probably damaging	1.00
BB009:Hrh4	UTSW	18	13,148,869 (GRCm39)	nonsense	probably null
BB019:Hrh4	UTSW	18	13,148,869 (GRCm39)	nonsense	probably null
R0267:Hrh4	UTSW	18	13,155,455 (GRCm39)	nonsense	probably null
R0329:Hrh4	UTSW	18	13,140,302 (GRCm39)	splice site	probably benign
R1601:Hrh4	UTSW	18	13,148,955 (GRCm39)	missense	possibly damaging	0.86
R1827:Hrh4	UTSW	18	13,155,261 (GRCm39)	missense	probably damaging	0.97
R2964:Hrh4	UTSW	18	13,155,426 (GRCm39)	missense	probably benign	0.43
R3843:Hrh4	UTSW	18	13,155,343 (GRCm39)	missense	possibly damaging	0.77
R5262:Hrh4	UTSW	18	13,148,870 (GRCm39)	missense	probably damaging	0.99
R5325:Hrh4	UTSW	18	13,155,054 (GRCm39)	nonsense	probably null
R5473:Hrh4	UTSW	18	13,154,985 (GRCm39)	missense	probably benign	0.34
R6500:Hrh4	UTSW	18	13,155,525 (GRCm39)	missense	probably damaging	0.98
R6622:Hrh4	UTSW	18	13,155,454 (GRCm39)	missense	probably damaging	1.00
R7574:Hrh4	UTSW	18	13,154,970 (GRCm39)	missense	possibly damaging	0.92
R7877:Hrh4	UTSW	18	13,155,582 (GRCm39)	missense	possibly damaging	0.50
R7932:Hrh4	UTSW	18	13,148,869 (GRCm39)	nonsense	probably null
R8197:Hrh4	UTSW	18	13,154,986 (GRCm39)	missense	probably damaging	1.00
R8278:Hrh4	UTSW	18	13,140,284 (GRCm39)	missense	probably damaging	0.99
R8549:Hrh4	UTSW	18	13,155,115 (GRCm39)	missense	possibly damaging	0.62
R8873:Hrh4	UTSW	18	13,140,195 (GRCm39)	missense
R9615:Hrh4	UTSW	18	13,154,944 (GRCm39)	missense	probably benign	0.41
R9738:Hrh4	UTSW	18	13,155,270 (GRCm39)	missense	possibly damaging	0.65

Posted On

2016-08-02