Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01652:Hrh3'

102855

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hrh3

Ensembl Gene

ENSMUSG00000039059

Gene Name

histamine receptor H3

Synonyms

Eae8

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

IGL01652

Quality Score

Status

Chromosome

Chromosomal Location

179741258-179746264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 179742896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 244 (P244Q)

Ref Sequence

ENSEMBL: ENSMUSP00000130181 (fasta)

Gene Model

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

AlphaFold

P58406

Predicted Effect

probably benign
Transcript: ENSMUST00000056480
AA Change: P244Q

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000049963
Gene: ENSMUSG00000039059
AA Change: P244Q

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

possibly damaging
Transcript: ENSMUST00000163215
AA Change: P244Q

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127053
Gene: ENSMUSG00000039059
AA Change: P244Q

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
AA Change: P244Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130553
Gene: ENSMUSG00000039059
AA Change: P244Q

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

possibly damaging
Transcript: ENSMUST00000165248
AA Change: P244Q

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130181
Gene: ENSMUSG00000039059
AA Change: P244Q

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
AA Change: P244Q

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132203
Gene: ENSMUSG00000039059
AA Change: P244Q

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

probably benign
Transcript: ENSMUST00000171736
AA Change: P244Q

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127085
Gene: ENSMUSG00000039059
AA Change: P244Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172211

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 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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	A	T	17: 72,910,526 (GRCm39)	V60E	probably damaging	Het
Ank2	T	C	3: 126,726,690 (GRCm39)	K868R	probably benign	Het
Ankrd13a	A	T	5: 114,929,397 (GRCm39)	D158V	probably damaging	Het
Arhgap12	G	T	18: 6,061,853 (GRCm39)	N380K	possibly damaging	Het
Cpn1	A	T	19: 43,974,533 (GRCm39)	F65L	possibly damaging	Het
Dlec1	T	A	9: 118,972,975 (GRCm39)	H1496Q	probably benign	Het
Dock1	C	T	7: 134,379,226 (GRCm39)		probably benign	Het
Dok1	T	C	6: 83,009,543 (GRCm39)	N143D	probably damaging	Het
Fcmr	C	T	1: 130,806,244 (GRCm39)	P363L	probably benign	Het
Galk2	A	G	2: 125,738,685 (GRCm39)	T171A	probably benign	Het
Icam1	T	C	9: 20,930,472 (GRCm39)	Y109H	probably damaging	Het
Nup93	T	C	8: 95,023,187 (GRCm39)	V132A	possibly damaging	Het
Or4c113	A	T	2: 88,884,913 (GRCm39)	Y286N	probably damaging	Het
Pla2g4f	T	C	2: 120,132,716 (GRCm39)	I707V	possibly damaging	Het
Rpgrip1	G	A	14: 52,382,949 (GRCm39)		probably benign	Het
Sbf2	A	T	7: 110,046,327 (GRCm39)	V290E	probably damaging	Het
Stard3	T	G	11: 98,269,559 (GRCm39)		probably benign	Het
Sufu	T	C	19: 46,464,059 (GRCm39)	Y424H	probably damaging	Het
Trim35	T	G	14: 66,546,250 (GRCm39)	V339G	probably damaging	Het
Vmn1r80	A	G	7: 11,927,063 (GRCm39)	I58V	probably benign	Het

Other mutations in Hrh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1808:Hrh3	UTSW	2	179,741,577 (GRCm39)	unclassified	probably benign
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

Posted On

2014-01-21