Mutagenetix > Incidental Mutation

Incidental Mutation 'R5050:Hrh3'

394582

Institutional Source

Beutler Lab

Gene Symbol

Hrh3

Ensembl Gene

ENSMUSG00000039059

Gene Name

histamine receptor H3

Synonyms

Eae8

MMRRC Submission

042640-MU

Accession Numbers

Essential gene?

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

Stock #

R5050 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

179741258-179746264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 179742350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 394 (L394P)

Ref Sequence

ENSEMBL: ENSMUSP00000130553 (fasta)

Gene Model

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

AlphaFold

P58406

Predicted Effect

probably damaging
Transcript: ENSMUST00000056480
AA Change: L426P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049963
Gene: ENSMUSG00000039059
AA Change: L426P

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

probably benign
Transcript: ENSMUST00000163215

SMART Domains

Protein: ENSMUSP00000127053
Gene: ENSMUSG00000039059

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 damaging
Transcript: ENSMUST00000164442
AA Change: L394P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130553
Gene: ENSMUSG00000039059
AA Change: L394P

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 damaging
Transcript: ENSMUST00000165248
AA Change: L378P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130181
Gene: ENSMUSG00000039059
AA Change: L378P

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 damaging
Transcript: ENSMUST00000165762
AA Change: L426P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132203
Gene: ENSMUSG00000039059
AA Change: L426P

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

possibly damaging
Transcript: ENSMUST00000171736
AA Change: L282P

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127085
Gene: ENSMUSG00000039059
AA Change: L282P

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

Meta Mutation Damage Score

0.8641

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,822 (GRCm39)		probably benign	Het
Ap3m1	A	G	14: 21,094,843 (GRCm39)	I108T	probably benign	Het
Apobec1	T	C	6: 122,568,061 (GRCm39)	M1V	probably null	Het
Aqr	A	T	2: 113,943,090 (GRCm39)	L1161*	probably null	Het
Aqr	A	T	2: 114,000,506 (GRCm39)		probably null	Het
Arhgef37	A	G	18: 61,637,402 (GRCm39)	I420T	probably benign	Het
Cacna1g	C	T	11: 94,350,541 (GRCm39)	E435K	probably damaging	Het
Card6	G	T	15: 5,129,858 (GRCm39)	H513N	probably benign	Het
Ccdc158	A	C	5: 92,814,738 (GRCm39)	F29L	probably benign	Het
Ccr6	T	C	17: 8,474,936 (GRCm39)	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 179,900,018 (GRCm39)	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654 (GRCm39)	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,233 (GRCm39)	F16S	probably benign	Het
Cdkl1	T	C	12: 69,804,014 (GRCm39)	K141R	probably damaging	Het
Cfhr4	T	A	1: 139,664,578 (GRCm39)	I494F	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,704,184 (GRCm39)	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,922,500 (GRCm39)	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,536,255 (GRCm39)	D2596A	probably benign	Het
Dync1li2	T	C	8: 105,164,073 (GRCm39)	K151E	probably damaging	Het
Eno4	C	T	19: 58,943,928 (GRCm39)	H297Y	probably benign	Het
Epg5	T	A	18: 78,019,156 (GRCm39)	D976E	possibly damaging	Het
Fhip2a	T	A	19: 57,371,602 (GRCm39)	F571L	probably damaging	Het
Gm4553	C	A	7: 141,718,773 (GRCm39)	K218N	unknown	Het
Gpld1	A	T	13: 25,146,739 (GRCm39)	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,252,567 (GRCm39)		probably benign	Het
Gucy2g	T	C	19: 55,229,367 (GRCm39)	E101G	probably benign	Het
Gvin3	T	C	7: 106,196,179 (GRCm39)		noncoding transcript	Het
Hira	G	A	16: 18,744,609 (GRCm39)	R442K	possibly damaging	Het
Igkv1-110	T	A	6: 68,248,176 (GRCm39)	F95Y	probably damaging	Het
Iqgap3	T	G	3: 87,997,493 (GRCm39)	V223G	probably damaging	Het
Itpk1	T	C	12: 102,671,069 (GRCm39)	T3A	probably damaging	Het
Jag1	A	G	2: 136,927,074 (GRCm39)	V895A	possibly damaging	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Large2	A	T	2: 92,198,124 (GRCm39)	L282Q	probably benign	Het
Lgmn	A	G	12: 102,369,680 (GRCm39)		probably null	Het
Lrp4	A	T	2: 91,322,767 (GRCm39)	I1119F	probably benign	Het
Map3k19	T	C	1: 127,751,299 (GRCm39)	H684R	probably benign	Het
Mier3	C	T	13: 111,851,107 (GRCm39)	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,213,685 (GRCm39)	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,929,932 (GRCm39)	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,473,670 (GRCm39)	I1568V	probably benign	Het
Or52e8b	T	A	7: 104,673,594 (GRCm39)	I198F	probably damaging	Het
Plch2	C	T	4: 155,127,766 (GRCm39)		probably benign	Het
Plek	T	C	11: 16,945,216 (GRCm39)	D38G	probably damaging	Het
Polr2f	A	G	15: 79,028,862 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,685,645 (GRCm39)	S38P	probably benign	Het
Sf1	C	T	19: 6,422,589 (GRCm39)	T248I	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Sharpin	A	T	15: 76,232,530 (GRCm39)	L160H	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Syn3	T	C	10: 86,243,532 (GRCm39)	T136A	probably benign	Het
Tcam1	G	A	11: 106,176,278 (GRCm39)	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,120,325 (GRCm39)	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,544,995 (GRCm39)	L2337P	probably damaging	Het
Ttn	G	A	2: 76,715,155 (GRCm39)		probably benign	Het
Tysnd1	T	A	10: 61,532,050 (GRCm39)	I234N	probably damaging	Het
Vmn2r51	T	C	7: 9,834,349 (GRCm39)	K230E	probably damaging	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
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
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'- GGTTGATGCTCTAAGAGGCTGC -3'
(R):5'- CAAGAAGGTAGCCAAGTCGC -3'

Sequencing Primer
(F):5'- ATGCTCTAAGAGGCTGCCATGG -3'
(R):5'- AAGTCGCTGGCTATCATCG -3'

Posted On

2016-06-15