Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01544:Hrh4'

90248

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 #

IGL01544

Quality Score

Status

Chromosome

Chromosomal Location

13140047-13155939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13148950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 104 (N104S)

Ref Sequence

ENSEMBL: ENSMUSP00000041061 (fasta)

Gene Model

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

AlphaFold

Q91ZY2

Predicted Effect

probably benign
Transcript: ENSMUST00000041676
AA Change: N104S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: N104S

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Bbx	C	A	16: 50,095,140 (GRCm39)	E59*	probably null	Het
Cep120	C	T	18: 53,819,033 (GRCm39)	R886H	probably benign	Het
Cep350	C	A	1: 155,828,933 (GRCm39)	V324L	probably damaging	Het
Cry1	T	A	10: 84,982,360 (GRCm39)	K329*	probably null	Het
Dhtkd1	T	C	2: 5,918,342 (GRCm39)	N627S	probably benign	Het
Dpp8	A	T	9: 64,962,270 (GRCm39)	T437S	probably benign	Het
Elovl1	G	A	4: 118,288,107 (GRCm39)		probably null	Het
Heca	A	G	10: 17,791,715 (GRCm39)	Y114H	probably damaging	Het
Ift80	T	A	3: 68,898,115 (GRCm39)	K73N	probably benign	Het
Ina	T	C	19: 47,003,948 (GRCm39)	V252A	possibly damaging	Het
Klhl36	A	G	8: 120,596,755 (GRCm39)	E152G	possibly damaging	Het
Lamp5	T	A	2: 135,910,990 (GRCm39)	L241Q	probably damaging	Het
Lrp4	G	A	2: 91,307,896 (GRCm39)	R447H	probably damaging	Het
Mmp24	G	A	2: 155,641,807 (GRCm39)	G212R	probably damaging	Het
Mpp3	A	G	11: 101,909,485 (GRCm39)	V191A	possibly damaging	Het
Mtmr4	A	G	11: 87,488,437 (GRCm39)		probably benign	Het
Mynn	C	A	3: 30,661,854 (GRCm39)	S312*	probably null	Het
Neb	T	A	2: 52,182,917 (GRCm39)	I1010F	possibly damaging	Het
Nes	T	C	3: 87,885,271 (GRCm39)	S1177P	possibly damaging	Het
Noct	T	C	3: 51,155,469 (GRCm39)	V79A	probably damaging	Het
Rad1	A	G	15: 10,490,465 (GRCm39)	D114G	probably damaging	Het
Slc26a9	T	C	1: 131,687,233 (GRCm39)		probably null	Het
Sqor	G	A	2: 122,634,266 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,467,953 (GRCm39)	W4309L	probably damaging	Het
Thoc7	A	C	14: 13,953,435 (GRCm38)	Y72D	probably damaging	Het
Thra	A	G	11: 98,647,754 (GRCm39)	I43V	possibly damaging	Het
Timm44	G	T	8: 4,325,888 (GRCm39)		probably benign	Het
Trmo	C	T	4: 46,386,169 (GRCm39)	G119R	probably damaging	Het
Trpc4	T	C	3: 54,209,567 (GRCm39)	M644T	probably damaging	Het
Wdr72	C	T	9: 74,056,007 (GRCm39)	L300F	probably damaging	Het
Wrn	T	C	8: 33,814,554 (GRCm39)	T54A	probably benign	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
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