Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Hrh4'

298642

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 #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

13140047-13155939 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 13140301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041061 (fasta)

Gene Model

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

AlphaFold

Q91ZY2

Predicted Effect

probably null
Transcript: ENSMUST00000041676

SMART Domains

Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,507,433 (GRCm39)	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,175,998 (GRCm39)	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,881,653 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col24a1	A	T	3: 145,019,934 (GRCm39)	I102F	probably benign	Het
Col7a1	C	T	9: 108,802,284 (GRCm39)	R2063C	unknown	Het
Ddo	T	A	10: 40,523,517 (GRCm39)	L169Q	probably damaging	Het
Defb4	G	T	8: 19,251,313 (GRCm39)	C60F	probably damaging	Het
Dock9	A	T	14: 121,862,559 (GRCm39)		probably benign	Het
Dysf	A	T	6: 84,044,428 (GRCm39)		probably benign	Het
Fasn	G	A	11: 120,699,892 (GRCm39)	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,551,232 (GRCm39)	D355G	probably benign	Het
Gak	C	T	5: 108,732,098 (GRCm39)	E797K	probably null	Het
Gm10654	T	C	8: 71,384,774 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,183,729 (GRCm39)		probably benign	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hdac3	A	G	18: 38,087,944 (GRCm39)	F8S	probably damaging	Het
Klhl1	A	G	14: 96,389,396 (GRCm39)	V586A	possibly damaging	Het
Lct	T	C	1: 128,222,003 (GRCm39)	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,338,566 (GRCm39)	N128K	probably benign	Het
Mndal	T	C	1: 173,700,486 (GRCm39)	T162A	probably benign	Het
Myh3	A	G	11: 66,991,921 (GRCm39)	E1822G	possibly damaging	Het
Mylpf	A	G	7: 126,813,315 (GRCm39)	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,067,260 (GRCm39)	A767T	probably benign	Het
Or10j3b	T	C	1: 173,044,088 (GRCm39)	V290A	probably damaging	Het
Or52n2	T	A	7: 104,542,161 (GRCm39)	R225W	probably benign	Het
Or5au1	A	G	14: 52,273,464 (GRCm39)	Y35H	probably damaging	Het
Paics	A	G	5: 77,112,451 (GRCm39)	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,702,049 (GRCm39)	Q1296K	probably benign	Het
Rufy1	A	G	11: 50,311,310 (GRCm39)	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,799,305 (GRCm39)	E93V	probably damaging	Het
Slamf1	T	A	1: 171,594,826 (GRCm39)	I11K	possibly damaging	Het
Slc5a5	C	T	8: 71,342,915 (GRCm39)	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,867,514 (GRCm39)	V473D	probably benign	Het
Slit1	A	G	19: 41,709,524 (GRCm39)	V123A	probably benign	Het
Srgap2	A	C	1: 131,452,674 (GRCm39)		probably null	Het
Stk32c	T	C	7: 138,700,606 (GRCm39)	M208V	probably benign	Het
Syt15	T	C	14: 33,943,760 (GRCm39)	V103A	probably benign	Het
Tacc2	T	A	7: 130,360,997 (GRCm39)	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,554,998 (GRCm39)		probably benign	Het
Tepsin	G	T	11: 119,987,731 (GRCm39)	D62E	probably benign	Het
Thap3	T	C	4: 152,068,144 (GRCm39)	D106G	probably benign	Het
Ttn	T	C	2: 76,616,561 (GRCm39)	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,946,585 (GRCm39)	N39S	possibly damaging	Het
Ubxn11	A	G	4: 133,852,254 (GRCm39)	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,200,046 (GRCm39)	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,503,482 (GRCm39)	T22A	probably damaging	Het
Ypel1	T	C	16: 16,927,515 (GRCm39)	K26E	possibly 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
IGL03277:Hrh4	APN	18	13,148,940 (GRCm39)	missense	probably damaging	1.00
IGL03281:Hrh4	APN	18	13,155,526 (GRCm39)	missense	possibly damaging	0.94
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

2015-04-16