Mutagenetix > Incidental Mutation

Incidental Mutation 'R4967:Hcrtr1'

384093

Institutional Source

Beutler Lab

Gene Symbol

Hcrtr1

Ensembl Gene

ENSMUSG00000028778

Gene Name

hypocretin (orexin) receptor 1

Synonyms

OX1R

MMRRC Submission

042563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130024010-130033152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130024792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 365 (F365I)

Ref Sequence

ENSEMBL: ENSMUSP00000127290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030562] [ENSMUST00000030563] [ENSMUST00000118199] [ENSMUST00000119423] [ENSMUST00000120154] [ENSMUST00000164887]

AlphaFold

P58307

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030562
AA Change: F365I

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030562
Gene: ENSMUSG00000028778
AA Change: F365I

Domain	Start	End	E-Value	Type
Pfam:7tm_1	63	358	8.8e-59	PFAM
low complexity region	406	415	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030563

SMART Domains

Protein: ENSMUSP00000030563
Gene: ENSMUSG00000028779

Domain	Start	End	E-Value	Type
low complexity region	11	101	N/A	INTRINSIC
EFh	109	137	2.5e-2	SMART
EFh	146	174	1.23e1	SMART
EFh	176	204	4.42e-3	SMART
Blast:EFh	243	273	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000118199

SMART Domains

Protein: ENSMUSP00000112638
Gene: ENSMUSG00000028779

Domain	Start	End	E-Value	Type
low complexity region	11	101	N/A	INTRINSIC
EFh	109	137	2.5e-2	SMART
EFh	146	174	1.23e1	SMART
EFh	176	204	4.42e-3	SMART
Blast:EFh	243	273	3e-9	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119423
AA Change: F365I

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112630
Gene: ENSMUSG00000028778
AA Change: F365I

Domain	Start	End	E-Value	Type
Pfam:7tm_1	63	358	5.3e-56	PFAM
low complexity region	406	415	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120154
AA Change: F365I

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113198
Gene: ENSMUSG00000028778
AA Change: F365I

Domain	Start	End	E-Value	Type
Pfam:7tm_1	63	358	8.8e-59	PFAM
low complexity region	406	415	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164887
AA Change: F365I

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127290
Gene: ENSMUSG00000028778
AA Change: F365I

Domain	Start	End	E-Value	Type
Pfam:7tm_1	63	358	8.8e-59	PFAM
low complexity region	406	415	N/A	INTRINSIC

Meta Mutation Damage Score

0.4365

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (102/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for one null allele display increased susceptibility to pharmacologically induced seizures. Mice homozygous for a second null allele display a decrease in depression like behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,502 (GRCm39)	Y199*	probably null	Het
Adhfe1	A	T	1: 9,637,029 (GRCm39)	I394F	probably benign	Het
Arhgap26	G	T	18: 39,379,893 (GRCm39)	R485L	probably damaging	Het
Atat1	T	A	17: 36,212,467 (GRCm39)	N231I	probably damaging	Het
B4galnt2	T	C	11: 95,760,100 (GRCm39)	N309S	probably benign	Het
Bank1	A	T	3: 135,772,134 (GRCm39)	F499I	probably damaging	Het
Bcl9l	A	G	9: 44,416,365 (GRCm39)	D146G	possibly damaging	Het
Bglap3	A	T	3: 88,283,671 (GRCm39)		probably benign	Het
Bscl2	C	A	19: 8,825,344 (GRCm39)	T376K	probably benign	Het
Cercam	A	T	2: 29,761,033 (GRCm39)		probably null	Het
Clec4f	C	T	6: 83,633,012 (GRCm39)	M1I	probably null	Het
Clec4n	A	T	6: 123,209,066 (GRCm39)	I14F	probably benign	Het
Cmya5	T	C	13: 93,227,093 (GRCm39)	E2665G	probably damaging	Het
Cog4	T	A	8: 111,578,915 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,352,856 (GRCm39)	F1961L	probably benign	Het
Cyp4a29	A	T	4: 115,104,196 (GRCm39)	H88L	probably benign	Het
Dhdh	A	G	7: 45,128,530 (GRCm39)	L216P	probably damaging	Het
Dpp6	T	C	5: 27,871,509 (GRCm39)	F544S	probably damaging	Het
Dthd1	C	T	5: 63,045,549 (GRCm39)	T771I	probably benign	Het
Emc10	A	G	7: 44,142,612 (GRCm39)		probably null	Het
Fgg	A	T	3: 82,920,072 (GRCm39)	T284S	probably benign	Het
Gask1a	C	T	9: 121,794,784 (GRCm39)	R313W	probably damaging	Het
Gm3002	T	A	14: 3,824,737 (GRCm38)	N24K	probably damaging	Het
Gm8674	G	A	13: 50,056,034 (GRCm39)		noncoding transcript	Het
Gpr63	G	A	4: 25,008,368 (GRCm39)	W364*	probably null	Het
Hcn4	C	G	9: 58,767,111 (GRCm39)	P891A	unknown	Het
Hmcn2	A	G	2: 31,244,176 (GRCm39)		probably null	Het
Hoxc5	T	A	15: 102,923,786 (GRCm39)	L194H	probably damaging	Het
Ifna11	A	G	4: 88,738,287 (GRCm39)	N31S	probably null	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Iqgap2	A	T	13: 95,766,514 (GRCm39)	D1496E	probably benign	Het
Kif28	G	T	1: 179,536,007 (GRCm39)	Q556K	probably damaging	Het
Klhl42	C	T	6: 147,009,502 (GRCm39)	T447I	possibly damaging	Het
Lrp1b	A	C	2: 41,678,986 (GRCm39)	D35E	probably damaging	Het
Lsm14b	A	G	2: 179,675,692 (GRCm39)		probably benign	Het
Map3k1	T	C	13: 111,909,272 (GRCm39)	E226G	probably damaging	Het
Map3k14	T	A	11: 103,130,357 (GRCm39)	N187Y	probably benign	Het
Mcm6	A	T	1: 128,263,586 (GRCm39)	V645E	probably damaging	Het
Mdh1b	G	T	1: 63,759,022 (GRCm39)	P190Q	probably damaging	Het
Meiob	T	G	17: 25,037,353 (GRCm39)	L77R	probably damaging	Het
Mrgpra3	A	T	7: 47,239,267 (GRCm39)	F220I	probably benign	Het
Mrtfa	C	A	15: 80,929,476 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,575,817 (GRCm39)	S1324T	possibly damaging	Het
Myot	T	A	18: 44,487,995 (GRCm39)	D437E	possibly damaging	Het
Ncoa6	G	T	2: 155,263,252 (GRCm39)	T394K	possibly damaging	Het
Nf1	T	A	11: 79,456,379 (GRCm39)		probably null	Het
Nup210	T	A	6: 91,013,451 (GRCm39)	T1190S	possibly damaging	Het
Odf1	T	A	15: 38,226,652 (GRCm39)	I184N	probably damaging	Het
Or10d1	C	T	9: 39,484,054 (GRCm39)	C167Y	probably damaging	Het
Or13d1	T	C	4: 52,970,960 (GRCm39)	V113A	possibly damaging	Het
Or1n1b	A	G	2: 36,780,719 (GRCm39)	I47T	probably damaging	Het
Or5k15	G	T	16: 58,709,957 (GRCm39)	Q209K	possibly damaging	Het
Padi1	A	G	4: 140,572,901 (GRCm39)	V21A	probably benign	Het
Pdzrn3	C	T	6: 101,128,551 (GRCm39)	R705H	probably damaging	Het
Pik3cb	T	C	9: 98,987,685 (GRCm39)	I18V	probably benign	Het
Pmpca	T	C	2: 26,280,320 (GRCm39)	S117P	probably damaging	Het
Poteg	T	A	8: 27,985,009 (GRCm39)		probably benign	Het
Pramel32	T	C	4: 88,547,432 (GRCm39)	T80A	probably damaging	Het
Rab30	G	A	7: 92,478,771 (GRCm39)	R72H	probably damaging	Het
Ramp2	T	A	11: 101,138,383 (GRCm39)		probably null	Het
Rbks	G	A	5: 31,781,876 (GRCm39)	T308I	probably damaging	Het
Rnf112	A	G	11: 61,343,752 (GRCm39)		probably benign	Het
Rnf38	G	A	4: 44,152,460 (GRCm39)	P3S	probably damaging	Het
Sec16a	A	G	2: 26,302,883 (GRCm39)	S2344P	probably benign	Het
Slc16a8	C	T	15: 79,137,084 (GRCm39)	V109M	possibly damaging	Het
Slc28a1	A	T	7: 80,791,757 (GRCm39)	T308S	possibly damaging	Het
Slc39a3	T	C	10: 80,867,453 (GRCm39)	T98A	possibly damaging	Het
Smarcc2	T	C	10: 128,319,049 (GRCm39)	F731L	probably damaging	Het
Smc4	A	G	3: 68,925,572 (GRCm39)		probably benign	Het
Sparcl1	T	G	5: 104,240,776 (GRCm39)	D216A	probably damaging	Het
Speg	G	A	1: 75,364,513 (GRCm39)	R192H	probably damaging	Het
Sspo	T	C	6: 48,441,539 (GRCm39)	L1892P	probably damaging	Het
Styxl2	A	T	1: 165,954,675 (GRCm39)	V25E	probably damaging	Het
Tacc2	A	G	7: 130,225,678 (GRCm39)	N807D	probably damaging	Het
Teddm1a	A	T	1: 153,767,979 (GRCm39)	K148*	probably null	Het
Tex15	T	A	8: 34,064,498 (GRCm39)	D1309E	probably benign	Het
Thbs1	A	T	2: 117,945,259 (GRCm39)	E277D	probably benign	Het
Ticrr	G	A	7: 79,310,158 (GRCm39)	R24Q	probably damaging	Het
Tigd4	A	G	3: 84,502,460 (GRCm39)	E459G	probably benign	Het
Tln2	C	A	9: 67,262,407 (GRCm39)	A615S	probably damaging	Het
Tmprss5	T	C	9: 49,026,817 (GRCm39)	V410A	probably damaging	Het
Tnrc6a	G	T	7: 122,789,095 (GRCm39)	W1638L	probably damaging	Het
Tpr	A	G	1: 150,285,810 (GRCm39)	D424G	probably damaging	Het
Trim34a	A	T	7: 103,910,271 (GRCm39)	K358*	probably null	Het
Tssk5	T	A	15: 76,258,856 (GRCm39)	D10V	possibly damaging	Het
Usp35	A	C	7: 96,962,782 (GRCm39)	L470R	probably damaging	Het
Usp42	T	C	5: 143,701,119 (GRCm39)	D968G	possibly damaging	Het
Utrn	A	G	10: 12,331,164 (GRCm39)	V2924A	probably damaging	Het
Wdtc1	C	A	4: 133,021,654 (GRCm39)	A627S	probably damaging	Het
Xrra1	A	G	7: 99,555,730 (GRCm39)	T366A	probably damaging	Het
Zfp712	T	A	13: 67,188,773 (GRCm39)	K585*	probably null	Het
Zfp97	T	A	17: 17,365,393 (GRCm39)	N297K	probably damaging	Het
Zfp97	G	T	17: 17,364,938 (GRCm39)	E146*	probably null	Het

Other mutations in Hcrtr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Hcrtr1	APN	4	130,031,062 (GRCm39)	missense	probably damaging	1.00
IGL00754:Hcrtr1	APN	4	130,031,026 (GRCm39)	missense	probably damaging	1.00
IGL02005:Hcrtr1	APN	4	130,031,056 (GRCm39)	missense	probably benign	0.31
R0084:Hcrtr1	UTSW	4	130,031,059 (GRCm39)	missense	possibly damaging	0.79
R0590:Hcrtr1	UTSW	4	130,029,487 (GRCm39)	missense	probably damaging	0.96
R1531:Hcrtr1	UTSW	4	130,024,720 (GRCm39)	nonsense	probably null
R1659:Hcrtr1	UTSW	4	130,029,129 (GRCm39)	nonsense	probably null
R2055:Hcrtr1	UTSW	4	130,024,680 (GRCm39)	missense	probably benign	0.08
R3028:Hcrtr1	UTSW	4	130,029,604 (GRCm39)	missense	probably benign	0.31
R4488:Hcrtr1	UTSW	4	130,029,556 (GRCm39)	missense	probably benign	0.02
R5301:Hcrtr1	UTSW	4	130,031,463 (GRCm39)	splice site	probably null
R5375:Hcrtr1	UTSW	4	130,029,518 (GRCm39)	missense	probably benign	0.08
R5636:Hcrtr1	UTSW	4	130,024,738 (GRCm39)	missense	possibly damaging	0.59
R6283:Hcrtr1	UTSW	4	130,029,133 (GRCm39)	missense	probably benign	0.01
R6505:Hcrtr1	UTSW	4	130,031,379 (GRCm39)	missense	probably benign
R7018:Hcrtr1	UTSW	4	130,029,661 (GRCm39)	missense	probably damaging	1.00
R7042:Hcrtr1	UTSW	4	130,024,653 (GRCm39)	unclassified	probably benign
R7091:Hcrtr1	UTSW	4	130,024,707 (GRCm39)	missense	probably damaging	0.99
R7259:Hcrtr1	UTSW	4	130,029,611 (GRCm39)	missense	possibly damaging	0.79
R7612:Hcrtr1	UTSW	4	130,029,478 (GRCm39)	missense	possibly damaging	0.61
R8140:Hcrtr1	UTSW	4	130,029,083 (GRCm39)	missense	probably damaging	0.99
R9410:Hcrtr1	UTSW	4	130,029,514 (GRCm39)	missense	probably damaging	0.98
R9485:Hcrtr1	UTSW	4	130,031,054 (GRCm39)	missense	possibly damaging	0.95
Z1177:Hcrtr1	UTSW	4	130,027,666 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCTTCCTGTGACTGCTGG -3'
(R):5'- TGCATTTTGCTCCAGGAACCG -3'

Sequencing Primer
(F):5'- AAGGACCAGGTCTCCCAGAG -3'
(R):5'- TCCAGGAACCGGCTGGG -3'

Posted On

2016-04-27