Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01530:Hrh4'

89740

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 #

IGL01530

Quality Score

Status

Chromosome

Chromosomal Location

13140047-13155939 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 13149004 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 benign
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
Acin1	G	A	14: 54,881,443 (GRCm39)	R1117W	probably damaging	Het
Acox2	T	G	14: 8,246,363 (GRCm38)	Y476S	probably damaging	Het
Arl6ip5	G	A	6: 97,187,785 (GRCm39)	D2N	possibly damaging	Het
Ces2h	A	G	8: 105,741,116 (GRCm39)	H36R	probably benign	Het
Cfap44	C	A	16: 44,269,530 (GRCm39)	A1178E	probably damaging	Het
Clmn	T	A	12: 104,758,115 (GRCm39)	I134F	probably damaging	Het
Col6a5	A	G	9: 105,792,385 (GRCm39)		probably benign	Het
Csmd1	C	T	8: 15,953,195 (GRCm39)	E3429K	probably damaging	Het
Csmd2	A	G	4: 128,308,094 (GRCm39)	D1284G	possibly damaging	Het
Csmd3	C	T	15: 47,701,833 (GRCm39)	G1750E	possibly damaging	Het
Csmd3	T	G	15: 47,533,013 (GRCm39)	D2516A	probably damaging	Het
Depdc1a	C	T	3: 159,229,560 (GRCm39)	H631Y	probably damaging	Het
Fat2	A	T	11: 55,174,213 (GRCm39)	S2167T	probably benign	Het
Flii	G	A	11: 60,611,008 (GRCm39)	R474*	probably null	Het
Hmcn2	A	C	2: 31,244,276 (GRCm39)	D687A	possibly damaging	Het
Hsd3b5	G	A	3: 98,526,439 (GRCm39)	R336C	probably damaging	Het
Igkv5-39	T	A	6: 69,877,459 (GRCm39)	E79V	probably damaging	Het
Iqgap3	G	A	3: 88,019,610 (GRCm39)		probably null	Het
Irak3	G	A	10: 119,978,699 (GRCm39)	S492F	probably benign	Het
Kif14	T	A	1: 136,406,157 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,518,498 (GRCm39)	I2394V	probably benign	Het
Lama1	C	T	17: 68,103,785 (GRCm39)	A2002V	probably benign	Het
Map3k19	T	C	1: 127,749,841 (GRCm39)	E1170G	probably damaging	Het
Mdn1	T	C	4: 32,711,938 (GRCm39)		probably benign	Het
Mpo	G	T	11: 87,692,017 (GRCm39)	M483I	probably benign	Het
Neu3	T	C	7: 99,462,953 (GRCm39)	S257G	probably benign	Het
Nhsl3	G	A	4: 129,116,589 (GRCm39)		probably null	Het
Niban3	A	T	8: 72,056,561 (GRCm39)		probably benign	Het
Nup214	A	G	2: 31,923,733 (GRCm39)	T1421A	probably benign	Het
Pbx1	T	C	1: 168,018,873 (GRCm39)	N324S	probably benign	Het
Pcbp2	T	C	15: 102,392,601 (GRCm39)	S5P	probably benign	Het
Pds5b	A	G	5: 150,715,640 (GRCm39)	I511V	probably benign	Het
Pdzph1	C	T	17: 59,229,710 (GRCm39)	D983N	probably damaging	Het
Phldb2	A	C	16: 45,623,092 (GRCm39)	D651E	probably damaging	Het
Pkhd1	A	G	1: 20,629,643 (GRCm39)		probably null	Het
Plxnb1	A	G	9: 108,939,473 (GRCm39)	D1406G	probably benign	Het
Rhebl1	T	C	15: 98,777,367 (GRCm39)	D65G	probably damaging	Het
Smpdl3a	A	G	10: 57,683,989 (GRCm39)	H249R	probably damaging	Het
Sorbs1	T	C	19: 40,365,091 (GRCm39)	T231A	probably benign	Het
Tmem232	G	A	17: 65,563,543 (GRCm39)	Q617*	probably null	Het
Trim62	A	G	4: 128,778,252 (GRCm39)	D97G	probably benign	Het
Tsc2	T	C	17: 24,841,636 (GRCm39)	T328A	possibly damaging	Het
Ugt2b5	C	T	5: 87,285,104 (GRCm39)	V278I	probably benign	Het
Usp4	T	C	9: 108,240,099 (GRCm39)		probably null	Het
Vdac3-ps1	C	T	13: 18,206,091 (GRCm39)		noncoding transcript	Het
Wwc2	T	A	8: 48,316,974 (GRCm39)	R706S	unknown	Het
Xpot	A	C	10: 121,447,433 (GRCm39)	I114S	probably damaging	Het
Zfp777	T	A	6: 48,020,918 (GRCm39)	S279C	probably damaging	Het

Other mutations in Hrh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-03