Mutagenetix > Incidental Mutation

Incidental Mutation 'R4764:Hrh1'

357091

Institutional Source

Beutler Lab

Gene Symbol

Hrh1

Ensembl Gene

ENSMUSG00000053004

Gene Name

histamine receptor H1

Synonyms

Hir, Bphs

MMRRC Submission

042405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114374897-114459432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114457496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 259 (V259A)

Ref Sequence

ENSEMBL: ENSMUSP00000124460 (fasta)

Gene Model

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

AlphaFold

P70174

Predicted Effect

probably benign
Transcript: ENSMUST00000088987
AA Change: V259A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000086383
Gene: ENSMUSG00000053004
AA Change: V259A

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: V259A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124320
Gene: ENSMUSG00000053004
AA Change: V259A

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: V259A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124037
Gene: ENSMUSG00000053004
AA Change: V259A

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: V259A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124460
Gene: ENSMUSG00000053004
AA Change: V259A

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

Meta Mutation Damage Score

0.0609

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	G	5: 146,122,029 (GRCm39)	S18R	probably benign	Het
2010315B03Rik	A	C	9: 124,056,396 (GRCm39)	V176G	probably benign	Het
Abcb1a	T	A	5: 8,765,732 (GRCm39)		probably null	Het
Acad11	C	A	9: 103,953,076 (GRCm39)	P102T	probably damaging	Het
Aggf1	T	A	13: 95,501,221 (GRCm39)	D387V	probably damaging	Het
Akr1c13	G	A	13: 4,248,496 (GRCm39)	V234I	probably benign	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Arl8a	C	A	1: 135,074,837 (GRCm39)	A41E	probably benign	Het
Axin1	C	A	17: 26,392,730 (GRCm39)	T337K	possibly damaging	Het
Bdp1	A	G	13: 100,192,775 (GRCm39)	L1353P	probably damaging	Het
Bptf	A	T	11: 106,934,520 (GRCm39)	V2851E	probably damaging	Het
C9	A	T	15: 6,489,124 (GRCm39)	E160D	probably damaging	Het
Cbx6	T	C	15: 79,712,881 (GRCm39)	D182G	probably damaging	Het
Cep57l1	T	C	10: 41,597,678 (GRCm39)	R242G	possibly damaging	Het
Chst8	T	C	7: 34,375,149 (GRCm39)	D230G	probably damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Cst12	A	G	2: 148,631,393 (GRCm39)	E38G	possibly damaging	Het
Disp1	G	T	1: 182,869,660 (GRCm39)	A920E	probably damaging	Het
Dtna	T	G	18: 23,668,206 (GRCm39)		probably null	Het
Elp3	T	A	14: 65,820,378 (GRCm39)	H97L	probably damaging	Het
Exoc8	A	G	8: 125,624,314 (GRCm39)	F18L	possibly damaging	Het
Extl3	T	C	14: 65,314,769 (GRCm39)	T138A	probably benign	Het
Foxi2	G	T	7: 135,012,396 (GRCm39)	G95C	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Frem1	A	T	4: 82,907,426 (GRCm39)	D811E	probably damaging	Het
Frmd4a	A	T	2: 4,608,259 (GRCm39)	E709V	probably damaging	Het
Fscn3	T	A	6: 28,436,200 (GRCm39)	*499K	probably null	Het
Galc	C	T	12: 98,209,003 (GRCm39)	G217D	possibly damaging	Het
Gm5592	G	T	7: 40,865,542 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,064,809 (GRCm39)	*521C	probably null	Het
Hnrnpul1	A	G	7: 25,442,436 (GRCm39)	S269P	probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Mtf2	T	C	5: 108,241,218 (GRCm39)	I248T	probably benign	Het
Muc2	C	T	7: 141,299,345 (GRCm39)	T130M	possibly damaging	Het
Myo16	T	C	8: 10,485,880 (GRCm39)	F653S	probably damaging	Het
Myo1e	T	C	9: 70,250,417 (GRCm39)		probably null	Het
Myo5a	G	T	9: 75,023,618 (GRCm39)		probably benign	Het
Nlrp1b	T	A	11: 71,073,489 (GRCm39)	D118V	probably damaging	Het
Npat	T	C	9: 53,483,920 (GRCm39)	F1412S	probably damaging	Het
Onecut3	G	T	10: 80,331,541 (GRCm39)	A234S	unknown	Het
Or1ad1	G	A	11: 50,875,602 (GRCm39)	E25K	probably benign	Het
Or8b37	T	G	9: 37,959,436 (GRCm39)	L306R	probably benign	Het
Osbpl6	T	A	2: 76,376,344 (GRCm39)	I73K	probably damaging	Het
Otog	C	T	7: 45,937,943 (GRCm39)	T1884I	probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pias4	A	G	10: 80,999,868 (GRCm39)	Y62H	possibly damaging	Het
Pknox1	T	A	17: 31,809,687 (GRCm39)	V97D	possibly damaging	Het
Plekhf1	A	G	7: 37,921,022 (GRCm39)	V182A	probably damaging	Het
Plscr4	T	C	9: 92,366,833 (GRCm39)	V149A	probably damaging	Het
Polr2l	A	T	7: 141,053,309 (GRCm39)	L35Q	probably damaging	Het
Ppp3ca	T	C	3: 136,596,250 (GRCm39)	I305T	probably damaging	Het
Ptprg	G	A	14: 12,122,068 (GRCm38)	A311T	probably benign	Het
Raet1e	T	G	10: 22,057,231 (GRCm39)	I185R	probably damaging	Het
Rims1	A	C	1: 22,518,543 (GRCm39)	V520G	probably damaging	Het
Rp1	A	T	1: 4,416,101 (GRCm39)	D1670E	probably damaging	Het
Rps6ka1	A	T	4: 133,587,868 (GRCm39)	I352N	probably damaging	Het
Rtp3	T	C	9: 110,816,418 (GRCm39)		probably benign	Het
Ryr3	T	A	2: 112,563,376 (GRCm39)		probably null	Het
Sall3	A	G	18: 81,017,691 (GRCm39)	V79A	probably damaging	Het
Sdsl	C	T	5: 120,600,119 (GRCm39)	V93M	probably damaging	Het
Slc7a13	A	G	4: 19,819,390 (GRCm39)	N197D	probably benign	Het
Slit1	T	A	19: 41,709,483 (GRCm39)	R137*	probably null	Het
Stxbp5	C	A	10: 9,646,367 (GRCm39)	R115L	probably damaging	Het
Tcea1	G	A	1: 4,965,167 (GRCm39)	R290H	probably damaging	Het
Tmem132e	A	T	11: 82,325,338 (GRCm39)	T113S	probably damaging	Het
Tpp1	A	T	7: 105,398,458 (GRCm39)	I286N	probably damaging	Het
Trio	G	A	15: 27,732,624 (GRCm39)	R3086*	probably null	Het
Usp22	T	A	11: 61,051,462 (GRCm39)	N294Y	probably damaging	Het
Usp44	T	A	10: 93,681,933 (GRCm39)	S128T	probably benign	Het
Zc3h7b	T	C	15: 81,653,384 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,304,372 (GRCm39)	Y1204C	possibly damaging	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
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
R9600:Hrh1	UTSW	6	114,457,453 (GRCm39)	missense	probably benign	0.31
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'- TCAAGATCATGACCGCCATC -3'
(R):5'- TGGTCATTGGCCTTTGAGCC -3'

Sequencing Primer
(F):5'- GATCATGACCGCCATCATCAACTTC -3'
(R):5'- ATTGGCCTTTGAGCCCCTGG -3'

Posted On

2015-11-11