Mutagenetix > Incidental Mutation

Incidental Mutation 'R3870:Hrh1'

276501

Institutional Source

Beutler Lab

Gene Symbol

Hrh1

Ensembl Gene

ENSMUSG00000053004

Gene Name

histamine receptor H1

Synonyms

Hir, Bphs

MMRRC Submission

040789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114374897-114459432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114457880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 387 (Y387C)

Ref Sequence

ENSEMBL: ENSMUSP00000124460 (fasta)

Gene Model

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

AlphaFold

P70174

Predicted Effect

probably damaging
Transcript: ENSMUST00000088987
AA Change: Y387C

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

SMART Domains

Protein: ENSMUSP00000086383
Gene: ENSMUSG00000053004
AA Change: Y387C

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 damaging
Transcript: ENSMUST00000160780
AA Change: Y387C

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

SMART Domains

Protein: ENSMUSP00000124320
Gene: ENSMUSG00000053004
AA Change: Y387C

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 damaging
Transcript: ENSMUST00000161220
AA Change: Y387C

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

SMART Domains

Protein: ENSMUSP00000124037
Gene: ENSMUSG00000053004
AA Change: Y387C

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 damaging
Transcript: ENSMUST00000161650
AA Change: Y387C

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

SMART Domains

Protein: ENSMUSP00000124460
Gene: ENSMUSG00000053004
AA Change: Y387C

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

0.2215

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

90% (61/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,880,828 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,182,418 (GRCm39)	C514F	probably damaging	Het
Akap8	G	A	17: 32,536,813 (GRCm39)		probably benign	Het
Armcx2	A	T	X: 133,707,048 (GRCm39)	V195E	probably benign	Het
Atg7	T	C	6: 114,674,008 (GRCm39)	S301P	possibly damaging	Het
Cc2d2a	C	A	5: 43,876,033 (GRCm39)	Y1003*	probably null	Het
Ccdc93	A	G	1: 121,390,843 (GRCm39)	S272G	probably benign	Het
Ces1d	C	G	8: 93,901,714 (GRCm39)	L418F	probably benign	Het
Cntnap5a	A	G	1: 115,987,979 (GRCm39)	E170G	probably damaging	Het
Cplane1	A	T	15: 8,247,948 (GRCm39)	K1499M	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Ehd4	T	A	2: 119,967,434 (GRCm39)	D120V	probably damaging	Het
Eif4g3	T	A	4: 137,824,211 (GRCm39)	V71E	probably damaging	Het
Exoc5	A	G	14: 49,256,853 (GRCm39)		probably benign	Het
Glud1	T	A	14: 34,047,537 (GRCm39)		probably benign	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm11555	G	T	11: 99,540,816 (GRCm39)	C64*	probably null	Het
Gm5468	A	G	15: 25,414,561 (GRCm39)		probably benign	Het
Gpatch2	T	A	1: 187,054,491 (GRCm39)	L74Q	probably damaging	Het
Hnrnpa0	G	A	13: 58,275,713 (GRCm39)	R139C	probably damaging	Het
Ldb3	A	T	14: 34,289,440 (GRCm39)	D216E	probably damaging	Het
Lingo1	A	T	9: 56,527,009 (GRCm39)	S533T	probably benign	Het
Lmtk2	T	G	5: 144,103,245 (GRCm39)		probably benign	Het
Map1s	A	G	8: 71,369,745 (GRCm39)	E939G	possibly damaging	Het
Mast1	G	A	8: 85,645,360 (GRCm39)	T695I	probably damaging	Het
Mettl21e	G	A	1: 44,245,524 (GRCm39)	R241W	probably benign	Het
Mfsd4a	G	A	1: 131,974,091 (GRCm39)	T261I	probably damaging	Het
Mmel1	T	C	4: 154,968,095 (GRCm39)	S144P	probably benign	Het
Myo16	A	T	8: 10,492,239 (GRCm39)	H727L	probably benign	Het
Ncoa6	T	C	2: 155,257,477 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,690 (GRCm39)	R352G	probably damaging	Het
Oaf	C	T	9: 43,134,055 (GRCm39)	R222Q	probably benign	Het
Or2ag2b	T	A	7: 106,418,047 (GRCm39)	Y252*	probably null	Het
Pard3	T	C	8: 128,136,167 (GRCm39)	S847P	probably damaging	Het
Pgbd1	C	T	13: 21,618,540 (GRCm39)	R39H	possibly damaging	Het
Plcb1	A	C	2: 135,167,591 (GRCm39)	I462L	probably damaging	Het
Prex2	T	C	1: 11,230,416 (GRCm39)	V814A	possibly damaging	Het
Rasal3	G	A	17: 32,612,522 (GRCm39)	R780W	possibly damaging	Het
Rubcnl	C	T	14: 75,278,356 (GRCm39)	P380L	probably benign	Het
Ryk	A	G	9: 102,768,427 (GRCm39)	E359G	probably damaging	Het
Sall2	C	A	14: 52,551,451 (GRCm39)	L579F	probably damaging	Het
Satb2	A	G	1: 56,930,379 (GRCm39)	S215P	probably damaging	Het
Scg3	T	C	9: 75,582,781 (GRCm39)		probably benign	Het
Slc35f5	A	G	1: 125,490,098 (GRCm39)	T65A	probably benign	Het
Snx33	T	C	9: 56,834,024 (GRCm39)	N15S	probably benign	Het
Stat2	T	A	10: 128,113,762 (GRCm39)	S180R	probably benign	Het
Stxbp2	A	G	8: 3,684,079 (GRCm39)	T129A	probably damaging	Het
Tas1r3	A	T	4: 155,945,810 (GRCm39)	C529S	probably damaging	Het
Tlr12	T	A	4: 128,510,361 (GRCm39)	M630L	probably benign	Het
Tnfrsf10b	T	G	14: 70,010,905 (GRCm39)	D103E	probably benign	Het
Togaram1	A	C	12: 65,049,419 (GRCm39)	E1285D	probably benign	Het
Tppp	A	G	13: 74,178,891 (GRCm39)	T111A	probably benign	Het
Trim12c	T	C	7: 103,997,544 (GRCm39)	Q4R	probably benign	Het
Ttbk2	T	G	2: 120,570,500 (GRCm39)	S1149R	probably damaging	Het
Uncx	T	C	5: 139,533,120 (GRCm39)	L395P	probably damaging	Het
Usp14	A	G	18: 10,002,370 (GRCm39)	S314P	possibly damaging	Het
Usp32	A	T	11: 84,897,881 (GRCm39)	Y1153*	probably null	Het
Vmn2r6	T	C	3: 64,464,042 (GRCm39)	E264G	probably damaging	Het
Vmn2r77	T	C	7: 86,461,050 (GRCm39)	F792S	probably damaging	Het
Vps13c	A	G	9: 67,792,008 (GRCm39)	I425V	probably benign	Het
Vstm4	C	T	14: 32,585,712 (GRCm39)	A93V	probably benign	Het
Xrcc6	T	A	15: 81,909,885 (GRCm39)	S97T	probably benign	Het
Zscan20	A	G	4: 128,480,218 (GRCm39)	C758R	probably 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
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
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'- CCAGCCCAAAATGGATGAGC -3'
(R):5'- GTTGATGTAGCCCAGCCAAATG -3'

Sequencing Primer
(F):5'- TGAGCAGAGCCTGAGTACTTGC -3'
(R):5'- AACATGTGCACAGGTTCGCTG -3'

Posted On

2015-04-06