Mutagenetix > Incidental Mutation

Incidental Mutation 'R9600:Hrh1'

723665

Institutional Source

Beutler Lab

Gene Symbol

Hrh1

Ensembl Gene

ENSMUSG00000053004

Gene Name

histamine receptor H1

Synonyms

Hir, Bphs

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9600 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114374897-114459432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114457453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 245 (K245E)

Ref Sequence

ENSEMBL: ENSMUSP00000086383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088987] [ENSMUST00000160212] [ENSMUST00000160780] [ENSMUST00000161220] [ENSMUST00000161650]

AlphaFold

P70174

Predicted Effect

probably benign
Transcript: ENSMUST00000088987
AA Change: K245E

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000086383
Gene: ENSMUSG00000053004
AA Change: K245E

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	228	2.4e-6	PFAM
Pfam:7tm_1	44	469	1.1e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160212

Predicted Effect

probably benign
Transcript: ENSMUST00000160780
AA Change: K245E

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124320
Gene: ENSMUSG00000053004
AA Change: K245E

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	228	2.4e-6	PFAM
Pfam:7tm_1	44	469	3.3e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161220
AA Change: K245E

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124037
Gene: ENSMUSG00000053004
AA Change: K245E

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	228	2.4e-6	PFAM
Pfam:7tm_1	44	469	1.1e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161650
AA Change: K245E

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124460
Gene: ENSMUSG00000053004
AA Change: K245E

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	228	2.4e-6	PFAM
Pfam:7tm_1	44	469	1.1e-72	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous null mutants show decrease in exploratory behavior, diurnal activity, aggression, anxiety, serotonin release, respiratory reaction to temperature and leptin response. Natural variants affect B. pertussis induced vasoactive amine sensitization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	G	11: 80,261,197 (GRCm39)	V210A	probably damaging	Het
Abcc9	G	A	6: 142,536,102 (GRCm39)	A1544V	possibly damaging	Het
Akap6	A	G	12: 52,933,341 (GRCm39)	T278A	probably benign	Het
Arfgef1	T	A	1: 10,233,977 (GRCm39)	I1106F	probably benign	Het
Armc7	T	C	11: 115,367,038 (GRCm39)	L61S	probably damaging	Het
Atp1a3	G	A	7: 24,700,027 (GRCm39)	T111M	probably benign	Het
Bltp1	A	T	3: 37,095,565 (GRCm39)	K1103*	probably null	Het
Cacna2d4	T	A	6: 119,322,023 (GRCm39)	S962R	probably benign	Het
Camsap2	T	C	1: 136,204,936 (GRCm39)	T526A		Het
Casq2	A	T	3: 102,052,622 (GRCm39)	D378V	unknown	Het
Chst8	C	T	7: 34,374,646 (GRCm39)	D398N	possibly damaging	Het
Cmya5	C	T	13: 93,226,604 (GRCm39)	G2828D	probably damaging	Het
Cntnap2	T	A	6: 45,969,009 (GRCm39)	N250K	probably damaging	Het
Cpne5	T	C	17: 29,380,520 (GRCm39)	N401D	probably damaging	Het
Cse1l	A	G	2: 166,757,119 (GRCm39)	N7S	probably damaging	Het
Cyp4f39	G	A	17: 32,705,920 (GRCm39)	G337D	probably damaging	Het
Dera	C	T	6: 137,814,135 (GRCm39)	R308C	probably benign	Het
Drd5	T	A	5: 38,478,174 (GRCm39)	I389N	possibly damaging	Het
F830016B08Rik	A	G	18: 60,433,237 (GRCm39)	T107A	probably damaging	Het
Fbxw22	C	A	9: 109,212,986 (GRCm39)	L320F	probably damaging	Het
Fndc3b	G	T	3: 27,552,941 (GRCm39)	T352K	probably damaging	Het
Gm36864	T	A	7: 43,886,275 (GRCm39)	I169K	unknown	Het
Hdac4	A	T	1: 91,889,277 (GRCm39)	D749E	probably damaging	Het
Herc1	C	T	9: 66,304,594 (GRCm39)	A805V	possibly damaging	Het
Khdc1a	A	G	1: 21,421,204 (GRCm39)	T130A	probably benign	Het
Lrp5	C	G	19: 3,641,712 (GRCm39)	A1417P	probably benign	Het
Macf1	T	C	4: 123,365,002 (GRCm39)	Q3253R	possibly damaging	Het
Mdn1	T	A	4: 32,684,723 (GRCm39)	L811*	probably null	Het
Mettl8	T	C	2: 70,812,383 (GRCm39)	D84G	possibly damaging	Het
Miga1	T	G	3: 151,993,186 (GRCm39)	T412P	probably benign	Het
Mtor	G	T	4: 148,632,092 (GRCm39)	R2322L	possibly damaging	Het
Muc16	T	C	9: 18,567,147 (GRCm39)	N1791D	unknown	Het
Myo9b	C	G	8: 71,743,075 (GRCm39)	S45R	possibly damaging	Het
Nup50l	A	T	6: 96,142,156 (GRCm39)	L296Q	possibly damaging	Het
Olfm4	T	C	14: 80,243,747 (GRCm39)	F105S	probably damaging	Het
Or5af2	A	T	11: 58,708,370 (GRCm39)	I179F	possibly damaging	Het
Osbpl1a	T	C	18: 13,015,277 (GRCm39)	I384V	probably benign	Het
Pcnx1	T	C	12: 82,030,435 (GRCm39)	L1131P		Het
Pex6	T	A	17: 47,035,322 (GRCm39)	V827E	probably damaging	Het
Plek	A	C	11: 16,940,119 (GRCm39)	S197A	probably benign	Het
Pmpca	T	C	2: 26,282,598 (GRCm39)	Y269H	probably benign	Het
Pop1	T	C	15: 34,512,881 (GRCm39)	I493T	probably benign	Het
Rap1gap2	T	C	11: 74,283,954 (GRCm39)	N615D	probably benign	Het
Rtp3	T	C	9: 110,815,198 (GRCm39)	Y389C	unknown	Het
Rusf1	T	A	7: 127,875,676 (GRCm39)	D253V	possibly damaging	Het
Sardh	T	C	2: 27,120,513 (GRCm39)	Q423R	probably benign	Het
Slc11a1	T	C	1: 74,422,688 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,896,239 (GRCm39)	D572G	probably damaging	Het
Slco1a8	T	G	6: 141,949,234 (GRCm39)		probably null	Het
Slfn14	A	G	11: 83,170,048 (GRCm39)	V532A	probably benign	Het
Spmip10	T	C	18: 56,725,450 (GRCm39)	W37R	probably benign	Het
Stxbp1	T	C	2: 32,701,120 (GRCm39)	Y264C	possibly damaging	Het
Syce1l	T	C	8: 114,381,750 (GRCm39)	I230T	unknown	Het
Taf5l	T	C	8: 124,730,173 (GRCm39)	Y172C		Het
Trpc4	A	T	3: 54,102,248 (GRCm39)	K49*	probably null	Het
Ttc13	A	G	8: 125,415,284 (GRCm39)	V285A	probably benign	Het
Ttc17	A	T	2: 94,204,890 (GRCm39)	L344Q	probably damaging	Het
Unc79	A	G	12: 103,135,972 (GRCm39)	H2469R	probably benign	Het
Xkr7	A	G	2: 152,896,393 (GRCm39)	I416V	probably benign	Het
Zeb2	C	A	2: 44,987,180 (GRCm39)	D35Y	unknown	Het
Zfp28	A	G	7: 6,397,917 (GRCm39)	H784R	probably benign	Het
Zfp644	A	C	5: 106,783,909 (GRCm39)	S848R	probably benign	Het
Zfp809	G	A	9: 22,150,384 (GRCm39)	E294K	possibly damaging	Het
Zfp820	A	G	17: 22,038,861 (GRCm39)	Y156H	probably benign	Het

Other mutations in Hrh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Hrh1	APN	6	114,457,283 (GRCm39)	missense	probably damaging	0.99
IGL01372:Hrh1	APN	6	114,456,958 (GRCm39)	missense	probably damaging	1.00
IGL01453:Hrh1	APN	6	114,458,123 (GRCm39)	missense	probably damaging	1.00
IGL01519:Hrh1	APN	6	114,457,262 (GRCm39)	missense	probably damaging	1.00
IGL02142:Hrh1	APN	6	114,457,204 (GRCm39)	missense	probably damaging	1.00
IGL02352:Hrh1	APN	6	114,457,404 (GRCm39)	missense	probably benign	0.43
IGL02359:Hrh1	APN	6	114,457,404 (GRCm39)	missense	probably benign	0.43
FR4737:Hrh1	UTSW	6	114,458,084 (GRCm39)	missense	possibly damaging	0.95
R0335:Hrh1	UTSW	6	114,457,193 (GRCm39)	missense	probably damaging	1.00
R0635:Hrh1	UTSW	6	114,457,106 (GRCm39)	missense	probably damaging	1.00
R1493:Hrh1	UTSW	6	114,457,838 (GRCm39)	missense	probably damaging	0.98
R2283:Hrh1	UTSW	6	114,457,400 (GRCm39)	missense	probably benign	0.00
R3870:Hrh1	UTSW	6	114,457,880 (GRCm39)	missense	probably damaging	1.00
R4124:Hrh1	UTSW	6	114,457,580 (GRCm39)	missense	probably benign	0.06
R4254:Hrh1	UTSW	6	114,456,962 (GRCm39)	missense	probably damaging	1.00
R4764:Hrh1	UTSW	6	114,457,496 (GRCm39)	missense	probably benign	0.00
R5270:Hrh1	UTSW	6	114,458,179 (GRCm39)	missense	possibly damaging	0.75
R6189:Hrh1	UTSW	6	114,456,959 (GRCm39)	missense	probably damaging	1.00
R6482:Hrh1	UTSW	6	114,457,724 (GRCm39)	missense	possibly damaging	0.93
R7495:Hrh1	UTSW	6	114,457,634 (GRCm39)	missense	probably benign	0.05
R7683:Hrh1	UTSW	6	114,456,748 (GRCm39)	missense	probably benign
R8041:Hrh1	UTSW	6	114,456,878 (GRCm39)	missense	not run
R8131:Hrh1	UTSW	6	114,457,253 (GRCm39)	missense	probably benign	0.10
R8354:Hrh1	UTSW	6	114,457,814 (GRCm39)	missense	probably benign	0.05
R8454:Hrh1	UTSW	6	114,457,814 (GRCm39)	missense	probably benign	0.05
R8502:Hrh1	UTSW	6	114,457,966 (GRCm39)	missense	probably damaging	1.00
R8558:Hrh1	UTSW	6	114,457,564 (GRCm39)	missense	probably benign
R9703:Hrh1	UTSW	6	114,457,979 (GRCm39)	missense	probably benign	0.01
R9774:Hrh1	UTSW	6	114,457,241 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CACTTGGTTCAAGATCATGACCG -3'
(R):5'- TGGTCATTGGCCTTTGAGCC -3'

Sequencing Primer
(F):5'- GGTTCAAGATCATGACCGCCATC -3'
(R):5'- ACAGGCTGTGTCTGCATGAC -3'

Posted On

2022-09-12