Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:Hrh3'

203585

Institutional Source

Beutler Lab

Gene Symbol

Hrh3

Ensembl Gene

ENSMUSG00000039059

Gene Name

histamine receptor H3

Synonyms

Eae8

MMRRC Submission

039837-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R1808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

179741258-179746264 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 179741577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056480] [ENSMUST00000163215] [ENSMUST00000164442] [ENSMUST00000165248] [ENSMUST00000165762] [ENSMUST00000166724] [ENSMUST00000171736]

AlphaFold

P58406

Predicted Effect

probably benign
Transcript: ENSMUST00000056480

SMART Domains

Protein: ENSMUSP00000049963
Gene: ENSMUSG00000039059

Domain	Start	End	E-Value	Type
low complexity region	12	50	N/A	INTRINSIC
Pfam:7tm_1	51	412	7.2e-65	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000163215
AA Change: P423L

SMART Domains

Protein: ENSMUSP00000127053
Gene: ENSMUSG00000039059
AA Change: P423L

Domain	Start	End	E-Value	Type
low complexity region	12	50	N/A	INTRINSIC
Pfam:7tm_1	51	376	2e-55	PFAM
low complexity region	406	415	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164442

SMART Domains

Protein: ENSMUSP00000130553
Gene: ENSMUSG00000039059

Domain	Start	End	E-Value	Type
low complexity region	12	50	N/A	INTRINSIC
Pfam:7tm_1	51	380	4.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165248

SMART Domains

Protein: ENSMUSP00000130181
Gene: ENSMUSG00000039059

Domain	Start	End	E-Value	Type
low complexity region	12	50	N/A	INTRINSIC
Pfam:7tm_1	51	364	6.9e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165762

SMART Domains

Protein: ENSMUSP00000132203
Gene: ENSMUSG00000039059

Domain	Start	End	E-Value	Type
low complexity region	12	50	N/A	INTRINSIC
Pfam:7tm_1	51	412	1.3e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166392

Predicted Effect

probably benign
Transcript: ENSMUST00000166724

SMART Domains

Protein: ENSMUSP00000126336
Gene: ENSMUSG00000039059

Domain	Start	End	E-Value	Type
low complexity region	12	50	N/A	INTRINSIC
Pfam:7tm_1	51	93	1.8e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172211

Predicted Effect

probably benign
Transcript: ENSMUST00000171736

SMART Domains

Protein: ENSMUSP00000127085
Gene: ENSMUSG00000039059

Domain	Start	End	E-Value	Type
low complexity region	12	50	N/A	INTRINSIC
Pfam:7tm_1	51	239	5.2e-45	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

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 histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced locomotor activity and body temperature, and attenuated behavioral responses to the drugs thioperamide, methamphetamine, and scopolamine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,121,691 (GRCm39)	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,156,015 (GRCm39)		probably null	Het
A2ml1	A	C	6: 128,520,262 (GRCm39)	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,508,334 (GRCm39)	L236V	probably benign	Het
Arf3	T	C	15: 98,638,954 (GRCm39)	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,051 (GRCm39)	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,052,573 (GRCm39)	F382S	probably damaging	Het
Bud13	T	A	9: 46,199,705 (GRCm39)	F355L	probably benign	Het
C2	G	A	17: 35,083,508 (GRCm39)	P349S	probably damaging	Het
Cbl	C	A	9: 44,075,526 (GRCm39)	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,142,896 (GRCm39)	L51Q	probably damaging	Het
Ccdc34	T	A	2: 109,874,601 (GRCm39)	M320K	probably benign	Het
Cntln	A	G	4: 85,015,000 (GRCm39)	E1097G	probably damaging	Het
Ctsc	A	C	7: 87,948,750 (GRCm39)	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,906,562 (GRCm39)	P163L	probably benign	Het
Dcxr	A	T	11: 120,616,438 (GRCm39)		probably null	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,903,160 (GRCm39)	L933P	probably damaging	Het
Dtna	T	C	18: 23,702,697 (GRCm39)	L76P	probably damaging	Het
Fcgbp	T	A	7: 27,784,515 (GRCm39)	C192S	probably benign	Het
Galnt5	T	A	2: 57,916,137 (GRCm39)	D683E	probably benign	Het
Greb1l	G	A	18: 10,542,143 (GRCm39)	A1297T	probably benign	Het
Grik4	T	C	9: 42,540,322 (GRCm39)	N286S	probably benign	Het
Hrc	A	T	7: 44,986,202 (GRCm39)	E451V	probably damaging	Het
Ints13	A	G	6: 146,455,695 (GRCm39)	I152T	probably damaging	Het
Irgm1	A	T	11: 48,757,259 (GRCm39)	V184D	probably damaging	Het
Itga5	C	T	15: 103,258,826 (GRCm39)	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,654 (GRCm39)	T73A	probably benign	Het
Kidins220	A	G	12: 25,053,008 (GRCm39)	T433A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Kmt2d	T	C	15: 98,764,567 (GRCm39)	D12G	probably damaging	Het
Mms19	A	G	19: 41,954,698 (GRCm39)	S74P	probably damaging	Het
Myh1	G	T	11: 67,102,300 (GRCm39)	E864*	probably null	Het
Nek1	A	G	8: 61,469,264 (GRCm39)	D107G	probably damaging	Het
Npc1	T	C	18: 12,327,149 (GRCm39)	N1149D	probably damaging	Het
Or14j6	T	A	17: 38,214,661 (GRCm39)	S75T	probably damaging	Het
Or3a1b	C	A	11: 74,012,257 (GRCm39)	S47R	probably damaging	Het
Or4k36	T	C	2: 111,146,343 (GRCm39)	V173A	probably benign	Het
Or5p79	A	C	7: 108,221,817 (GRCm39)	K266T	possibly damaging	Het
Osbp	T	C	19: 11,948,142 (GRCm39)	S150P	probably damaging	Het
Paf1	T	C	7: 28,096,247 (GRCm39)	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,201,174 (GRCm39)	V420A	probably benign	Het
Pdss1	G	T	2: 22,796,846 (GRCm39)	E120*	probably null	Het
Pink1	A	T	4: 138,044,630 (GRCm39)	V339E	probably damaging	Het
Pkn3	C	T	2: 29,969,663 (GRCm39)	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,730,165 (GRCm39)	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,276,412 (GRCm39)	I31T	probably damaging	Het
Rbms3	T	C	9: 116,651,894 (GRCm39)	E152G	probably damaging	Het
Rfx1	A	C	8: 84,821,677 (GRCm39)	Q804H	probably damaging	Het
Rpe	G	T	1: 66,754,356 (GRCm39)	V143L	probably benign	Het
Sap30l	G	T	11: 57,700,771 (GRCm39)	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,863,268 (GRCm39)	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,154,856 (GRCm39)	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,060,947 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,948 (GRCm39)		probably null	Het
Spaca3	T	A	11: 80,758,511 (GRCm39)	V158E	probably damaging	Het
Sprtn	C	A	8: 125,629,770 (GRCm39)	N354K	probably benign	Het
Stab1	T	A	14: 30,863,101 (GRCm39)	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,866,548 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,918,168 (GRCm39)	S1248P	probably damaging	Het
Tshr	T	C	12: 91,504,090 (GRCm39)	F343L	probably benign	Het
Ttn	C	A	2: 76,555,698 (GRCm39)	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,935,839 (GRCm39)	M68K	probably benign	Het
Ucp2	T	C	7: 100,148,021 (GRCm39)	V238A	probably damaging	Het
Urgcp	C	A	11: 5,667,242 (GRCm39)	L365F	probably damaging	Het
Vezt	A	T	10: 93,826,026 (GRCm39)	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,240,184 (GRCm39)	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,205 (GRCm39)	F2158L	probably benign	Het

Other mutations in Hrh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01652:Hrh3	APN	2	179,742,896 (GRCm39)	missense	possibly damaging	0.69
IGL01827:Hrh3	APN	2	179,745,739 (GRCm39)	missense	possibly damaging	0.95
IGL01912:Hrh3	APN	2	179,743,169 (GRCm39)	missense	probably damaging	1.00
IGL02992:Hrh3	APN	2	179,742,608 (GRCm39)	missense	probably benign	0.11
IGL03273:Hrh3	APN	2	179,742,441 (GRCm39)	missense	possibly damaging	0.85
R1403:Hrh3	UTSW	2	179,744,547 (GRCm39)	missense	probably damaging	1.00
R1403:Hrh3	UTSW	2	179,744,547 (GRCm39)	missense	probably damaging	1.00
R2060:Hrh3	UTSW	2	179,743,043 (GRCm39)	missense	possibly damaging	0.95
R4110:Hrh3	UTSW	2	179,744,643 (GRCm39)	missense	possibly damaging	0.84
R4111:Hrh3	UTSW	2	179,744,643 (GRCm39)	missense	possibly damaging	0.84
R4113:Hrh3	UTSW	2	179,744,643 (GRCm39)	missense	possibly damaging	0.84
R4330:Hrh3	UTSW	2	179,741,665 (GRCm39)	unclassified	probably benign
R4935:Hrh3	UTSW	2	179,743,061 (GRCm39)	missense	probably damaging	1.00
R5050:Hrh3	UTSW	2	179,742,350 (GRCm39)	missense	probably damaging	1.00
R5543:Hrh3	UTSW	2	179,745,763 (GRCm39)	missense	probably damaging	0.99
R5780:Hrh3	UTSW	2	179,742,608 (GRCm39)	missense	probably damaging	0.96
R7571:Hrh3	UTSW	2	179,743,079 (GRCm39)	missense	probably damaging	0.98
R8699:Hrh3	UTSW	2	179,743,149 (GRCm39)	missense	probably damaging	0.99
R9603:Hrh3	UTSW	2	179,742,444 (GRCm39)	nonsense	probably null
R9698:Hrh3	UTSW	2	179,743,206 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- CAAAGCATTCCTCCCAGGTGTC -3'
(R):5'- TGCCCCATGAAGTGTCAAGC -3'

Sequencing Primer
(F):5'- ATTCCTCCCAGGTGTCGAGAAC -3'
(R):5'- ATGAAGTGTCAAGCGCCCC -3'

Posted On

2014-06-23