Mutagenetix > Incidental Mutation

Incidental Mutation 'R5262:Hrh4'

401530

Institutional Source

Beutler Lab

Gene Symbol

Hrh4

Ensembl Gene

ENSMUSG00000037346

Gene Name

histamine receptor H4

Synonyms

H4R

MMRRC Submission

042857-MU

Accession Numbers

Essential gene?

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

Stock #

R5262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13140047-13155939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 13148870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 77 (L77F)

Ref Sequence

ENSEMBL: ENSMUSP00000041061 (fasta)

Gene Model

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

AlphaFold

Q91ZY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041676
AA Change: L77F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: L77F

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (61/62)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,390,557 (GRCm39)	D821V	possibly damaging	Het
Ankdd1b	C	A	13: 96,557,281 (GRCm39)	R384L	probably damaging	Het
Ces1e	A	G	8: 93,950,586 (GRCm39)	F65S	probably damaging	Het
Cfap53	A	C	18: 74,462,530 (GRCm39)	S425R	probably benign	Het
Corin	A	G	5: 72,462,298 (GRCm39)	V837A	probably damaging	Het
Cyp2d34	A	T	15: 82,502,572 (GRCm39)	V188E	probably damaging	Het
Defb26	A	T	2: 152,349,878 (GRCm39)	M134K	unknown	Het
Dnah10	A	C	5: 124,862,220 (GRCm39)	K2158N	probably damaging	Het
Dnah9	C	T	11: 66,003,159 (GRCm39)	V882M	probably benign	Het
Dpyd	C	A	3: 118,591,071 (GRCm39)	Y186*	probably null	Het
Elovl1	G	A	4: 118,288,124 (GRCm39)		probably benign	Het
Fars2	T	A	13: 36,526,001 (GRCm39)	I329N	probably damaging	Het
Gstm1	T	A	3: 107,923,679 (GRCm39)	M109L	probably benign	Het
Gtf2e1	T	C	16: 37,356,293 (GRCm39)	T80A	probably damaging	Het
Gtf2h2	A	G	13: 100,618,356 (GRCm39)		probably benign	Het
Ifi47	A	G	11: 48,986,559 (GRCm39)	T109A	probably benign	Het
Igsf5	G	T	16: 96,192,237 (GRCm39)	E179*	probably null	Het
Ints8	A	G	4: 11,211,916 (GRCm39)	I885T	probably damaging	Het
Iqgap1	T	G	7: 80,376,490 (GRCm39)	I1341L	probably benign	Het
Kmt2b	A	G	7: 30,269,219 (GRCm39)	L2567P	probably damaging	Het
Lilrb4a	T	C	10: 51,369,303 (GRCm39)		probably null	Het
Maip1	G	A	1: 57,446,131 (GRCm39)	R67H	probably damaging	Het
Muc6	T	A	7: 141,237,375 (GRCm39)	I254F	possibly damaging	Het
Nfkb1	A	T	3: 135,318,173 (GRCm39)		probably null	Het
Nlrp4a	T	C	7: 26,159,236 (GRCm39)		probably null	Het
Nrap	A	T	19: 56,308,655 (GRCm39)	I1477N	possibly damaging	Het
Pdgfa	A	G	5: 138,979,049 (GRCm39)	S52P	probably benign	Het
Pou1f1	G	T	16: 65,328,868 (GRCm39)	E196*	probably null	Het
Ppp2r5e	G	A	12: 75,640,045 (GRCm39)	R19W	probably damaging	Het
Ptn	T	A	6: 36,721,419 (GRCm39)	Q7L	probably benign	Het
Rbp3	G	T	14: 33,676,807 (GRCm39)	A252S	probably damaging	Het
Rcor2	G	T	19: 7,251,426 (GRCm39)	V313L	probably damaging	Het
Rtp3	A	T	9: 110,815,195 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,787,323 (GRCm39)	T1017A	probably damaging	Het
Scgb2b11	T	C	7: 31,908,776 (GRCm39)	N108S	probably benign	Het
Sgo2b	C	A	8: 64,396,171 (GRCm39)	L28F	probably damaging	Het
Shroom3	A	G	5: 93,112,432 (GRCm39)	E1850G	probably damaging	Het
Slc16a14	A	G	1: 84,890,612 (GRCm39)	L231P	probably benign	Het
Slfn5	A	G	11: 82,847,496 (GRCm39)	E127G	possibly damaging	Het
Snx16	C	T	3: 10,502,892 (GRCm39)	M118I	probably damaging	Het
Snx21	T	C	2: 164,633,741 (GRCm39)	F176L	probably damaging	Het
Tap2	A	G	17: 34,432,990 (GRCm39)	N424S	probably benign	Het
Tcf7l1	T	C	6: 72,613,449 (GRCm39)		probably benign	Het
Trappc8	C	T	18: 20,951,247 (GRCm39)	V1400I	probably benign	Het
Trim58	T	C	11: 58,542,494 (GRCm39)	Y485H	possibly damaging	Het
U2af1l4	C	T	7: 30,263,638 (GRCm39)	T65I	probably benign	Het
Ufl1	G	T	4: 25,251,294 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,593,031 (GRCm39)	N762S	probably damaging	Het
Virma	A	T	4: 11,539,926 (GRCm39)	D1465V	probably benign	Het
Vmn1r48	A	T	6: 90,013,016 (GRCm39)	S270T	probably benign	Het
Vrk2	T	A	11: 26,541,697 (GRCm39)	Y9F	possibly damaging	Het
Wwp1	A	G	4: 19,631,057 (GRCm39)	F659L	probably damaging	Het
Zbtb24	C	T	10: 41,340,556 (GRCm39)	Q529*	probably null	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,584,556 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- GACATGCCATTCTATGATGTATCC -3'
(R):5'- CAGTACAGGCTTAAGGACCC -3'

Sequencing Primer
(F):5'- GCTATGCATGTGTAAGTTAGAGCAC -3'
(R):5'- GGACCCAGAATTTACAACTGTAGTC -3'

Posted On

2016-07-06