Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Hrh4'

35025

Institutional Source

Beutler Lab

Gene Symbol

Hrh4

Ensembl Gene

ENSMUSG00000037346

Gene Name

histamine receptor H4

Synonyms

H4R

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

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

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13140047-13155939 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 13155455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 331 (Y331*)

Ref Sequence

ENSEMBL: ENSMUSP00000041061 (fasta)

Gene Model

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

AlphaFold

Q91ZY2

Predicted Effect

probably null
Transcript: ENSMUST00000041676
AA Change: Y331*

SMART Domains

Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: Y331*

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

0.9755

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105 (GRCm39)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,401,238 (GRCm39)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Adrb1	A	T	19: 56,711,923 (GRCm39)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,562,233 (GRCm39)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,358,551 (GRCm39)		probably benign	Het
Alox15	T	A	11: 70,236,979 (GRCm39)	H393L	probably damaging	Het
Aox1	A	G	1: 58,378,605 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,288 (GRCm39)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,092,379 (GRCm39)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,418,540 (GRCm39)	D737V	probably damaging	Het
C9	T	C	15: 6,496,939 (GRCm39)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,255,107 (GRCm39)		probably benign	Het
Chst1	C	A	2: 92,443,951 (GRCm39)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,475 (GRCm39)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,923,454 (GRCm39)	H113Q	probably benign	Het
Dcn	A	T	10: 97,342,345 (GRCm39)		probably benign	Het
Dmbx1	C	T	4: 115,775,309 (GRCm39)	A324T	probably benign	Het
Dock10	G	T	1: 80,490,171 (GRCm39)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,710,921 (GRCm39)	E443G	probably benign	Het
Espl1	T	C	15: 102,221,452 (GRCm39)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,647,213 (GRCm39)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,432,365 (GRCm39)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 30,770,159 (GRCm39)		probably benign	Het
Gbp2	T	C	3: 142,335,867 (GRCm39)	V189A	probably benign	Het
Gins4	T	C	8: 23,719,426 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,845,319 (GRCm39)	T3A	probably benign	Het
Gnb1l	T	C	16: 18,366,839 (GRCm39)		probably benign	Het
Gtpbp3	T	C	8: 71,944,141 (GRCm39)	L295S	probably damaging	Het
Hsd11b1	A	T	1: 192,923,705 (GRCm39)	Y52N	probably damaging	Het
Jam3	A	G	9: 27,017,701 (GRCm39)	I29T	probably benign	Het
Kctd16	T	A	18: 40,663,930 (GRCm39)	I353N	probably benign	Het
Lama4	G	T	10: 38,904,635 (GRCm39)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,093,040 (GRCm39)	M137L	probably benign	Het
Morc2a	T	C	11: 3,628,567 (GRCm39)	I340T	probably benign	Het
Myo7a	A	C	7: 97,703,831 (GRCm39)	I1969S	probably benign	Het
Or14a258	T	C	7: 86,035,475 (GRCm39)	E131G	possibly damaging	Het
Or5b116	T	A	19: 13,422,792 (GRCm39)	C139S	probably damaging	Het
Or6n1	A	G	1: 173,916,732 (GRCm39)	N42S	probably damaging	Het
Pclo	T	C	5: 14,731,194 (GRCm39)	L3232P	unknown	Het
Polr1a	T	G	6: 71,951,123 (GRCm39)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,656,722 (GRCm39)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,386,066 (GRCm39)	T280A	probably benign	Het
Rfx3	T	C	19: 27,771,188 (GRCm39)	D521G	probably benign	Het
Scn5a	C	T	9: 119,372,201 (GRCm39)	V223I	probably damaging	Het
Sgsm3	T	G	15: 80,890,803 (GRCm39)	M119R	probably damaging	Het
Slc6a7	T	A	18: 61,129,783 (GRCm39)	M608L	probably benign	Het
Slit2	A	G	5: 48,339,673 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,723,561 (GRCm39)	I440F	probably benign	Het
Syn2	T	G	6: 115,231,111 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,361,203 (GRCm39)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,333,426 (GRCm39)		probably benign	Het
Trpm6	C	A	19: 18,800,742 (GRCm39)	P819T	probably benign	Het
Ttn	G	A	2: 76,574,033 (GRCm39)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,459,553 (GRCm39)		probably null	Het
Vars1	T	C	17: 35,230,572 (GRCm39)		probably benign	Het
Vip	A	T	10: 5,594,004 (GRCm39)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps33b	T	C	7: 79,935,802 (GRCm39)	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,753,300 (GRCm39)	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,297,362 (GRCm39)	S237T	probably benign	Het
Zfp142	G	A	1: 74,615,223 (GRCm39)	A427V	probably benign	Het
Zfp692	T	A	11: 58,205,140 (GRCm39)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,670,322 (GRCm39)	I384N	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTCCTCGAAGAAAGAGCAGCATCC -3'
(R):5'- GATACTGACTGGTTCTGTGACAGCG -3'

Sequencing Primer
(F):5'- TGAACAGCAGTATCACTGCCTTC -3'
(R):5'- GCTGGTTGCTTTGTCACAC -3'

Posted On

2013-05-09