Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Hcrtr2'

438034

Institutional Source

Beutler Lab

Gene Symbol

Hcrtr2

Ensembl Gene

ENSMUSG00000032360

Gene Name

hypocretin (orexin) receptor 2

Synonyms

mOX2bR, mOX2aR, mOXR2, OX2r

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76133162-76230905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76230596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000139377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063140] [ENSMUST00000184757]

AlphaFold

P58308

Predicted Effect

probably damaging
Transcript: ENSMUST00000063140
AA Change: V64A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: V64A

Domain	Start	End	E-Value	Type
Pfam:7tm_1	71	364	2.2e-59	PFAM
Pfam:Orexin_rec2	386	443	1.2e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184200

Predicted Effect

probably damaging
Transcript: ENSMUST00000184757
AA Change: V64A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: V64A

Domain	Start	End	E-Value	Type
Pfam:7tm_1	71	364	1.2e-59	PFAM
Pfam:Orexin_rec2	383	443	2.2e-47	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

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 binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice bearing targeted mutations in this gene exhibit fragmentation of sleep/wake states with similarity to narcolepsy and rare or very rare episodes of cataplexy. In addition, mice homozygous for a funtionally null allele display enhanced depression-likebehavior. [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
9930111J21Rik2	G	C	11: 48,910,828 (GRCm39)	T535R	possibly damaging	Het
Adam34	A	T	8: 44,104,749 (GRCm39)	F299I	probably benign	Het
Adamts20	A	G	15: 94,171,161 (GRCm39)	M1854T	possibly damaging	Het
Adrm1b	G	A	3: 92,335,758 (GRCm39)	P315S	probably damaging	Het
Apbb1	A	G	7: 105,208,690 (GRCm39)	V581A	probably damaging	Het
Apol6	T	A	15: 76,935,240 (GRCm39)		probably null	Het
Arhgef37	T	C	18: 61,640,334 (GRCm39)	T242A	probably benign	Het
Asxl2	T	C	12: 3,534,598 (GRCm39)	V265A	probably damaging	Het
Bicd1	A	T	6: 149,414,954 (GRCm39)	R556*	probably null	Het
C2	A	G	17: 35,091,360 (GRCm39)	I101T	probably damaging	Het
Cd22	T	A	7: 30,577,575 (GRCm39)		probably benign	Het
Cd33	T	C	7: 43,181,542 (GRCm39)	H206R	probably damaging	Het
Cd5l	G	A	3: 87,275,082 (GRCm39)	G207D	possibly damaging	Het
Chrd	A	T	16: 20,557,724 (GRCm39)	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Csn1s1	A	T	5: 87,825,503 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,987,942 (GRCm39)	V704I	probably benign	Het
Dscc1	C	A	15: 54,945,569 (GRCm39)	Q312H	probably benign	Het
Dysf	A	T	6: 84,041,860 (GRCm39)	T154S	probably damaging	Het
Foxi2	T	C	7: 135,013,433 (GRCm39)	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105 (GRCm39)	I250N	probably damaging	Het
Gfap	T	A	11: 102,787,895 (GRCm39)	T17S	probably benign	Het
Igkv4-86	A	G	6: 68,887,659 (GRCm39)	S27P	probably damaging	Het
Kalrn	G	T	16: 33,996,150 (GRCm39)	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,745,304 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,314,219 (GRCm39)	T656A	probably benign	Het
Mss51	G	T	14: 20,533,174 (GRCm39)	S432R	possibly damaging	Het
Mzf1	A	G	7: 12,778,554 (GRCm39)		probably benign	Het
Nop58	T	A	1: 59,749,672 (GRCm39)		probably benign	Het
Or10al5	A	T	17: 38,062,975 (GRCm39)	I77F	possibly damaging	Het
Otogl	T	C	10: 107,622,630 (GRCm39)	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,295,247 (GRCm39)	N1459K	probably damaging	Het
Pkn3	G	A	2: 29,969,673 (GRCm39)	G61D	probably damaging	Het
Plekha4	T	C	7: 45,203,065 (GRCm39)	S581P	probably benign	Het
Ppm1g	A	G	5: 31,363,441 (GRCm39)	F256L	probably damaging	Het
Proser1	A	G	3: 53,386,296 (GRCm39)	N726S	probably benign	Het
Rapgef1	A	G	2: 29,592,448 (GRCm39)	D480G	probably damaging	Het
Reln	G	A	5: 22,244,663 (GRCm39)	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,273,568 (GRCm39)	V40A	probably benign	Het
Slc22a23	G	A	13: 34,489,222 (GRCm39)	T221I	probably benign	Het
Slc22a28	T	A	19: 8,040,698 (GRCm39)	T518S	probably damaging	Het
Slc4a1ap	A	G	5: 31,711,173 (GRCm39)		probably benign	Het
St8sia4	T	C	1: 95,555,409 (GRCm39)	D207G	probably damaging	Het
Syde1	T	A	10: 78,421,725 (GRCm39)	T609S	probably benign	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tle4	T	C	19: 14,427,159 (GRCm39)	D754G	probably damaging	Het
Ttn	C	T	2: 76,562,869 (GRCm39)	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,416,743 (GRCm39)	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,106,692 (GRCm39)	L203M	probably benign	Het
Vmn1r6	T	C	6: 56,979,362 (GRCm39)	L8P	probably damaging	Het
Vmn2r103	A	G	17: 20,013,904 (GRCm39)	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,576,030 (GRCm39)	D300E	probably damaging	Het
Vmn2r66	T	A	7: 84,654,951 (GRCm39)	K453*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Vps54	A	G	11: 21,261,130 (GRCm39)	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,568,348 (GRCm39)	N1214Y	probably benign	Het
Zc3h18	T	G	8: 123,135,109 (GRCm39)		probably null	Het
Zfp51	A	G	17: 21,684,354 (GRCm39)	E323G	probably damaging	Het

Other mutations in Hcrtr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Hcrtr2	APN	9	76,135,437 (GRCm39)	missense	possibly damaging	0.86
IGL00492:Hcrtr2	APN	9	76,153,723 (GRCm39)	missense	probably damaging	1.00
IGL00782:Hcrtr2	APN	9	76,137,779 (GRCm39)	utr 3 prime	probably benign
IGL03096:Hcrtr2	APN	9	76,161,908 (GRCm39)	missense	probably benign	0.01
PIT4508001:Hcrtr2	UTSW	9	76,153,662 (GRCm39)	nonsense	probably null
R0038:Hcrtr2	UTSW	9	76,166,963 (GRCm39)	missense	probably benign	0.00
R0038:Hcrtr2	UTSW	9	76,166,963 (GRCm39)	missense	probably benign	0.00
R0268:Hcrtr2	UTSW	9	76,135,470 (GRCm39)	missense	probably benign
R0389:Hcrtr2	UTSW	9	76,153,662 (GRCm39)	nonsense	probably null
R0499:Hcrtr2	UTSW	9	76,161,954 (GRCm39)	missense	probably damaging	1.00
R0607:Hcrtr2	UTSW	9	76,137,966 (GRCm39)	missense	probably benign	0.00
R1622:Hcrtr2	UTSW	9	76,230,722 (GRCm39)	missense	probably benign	0.03
R1637:Hcrtr2	UTSW	9	76,140,281 (GRCm39)	missense	probably benign
R1698:Hcrtr2	UTSW	9	76,153,735 (GRCm39)	missense	probably damaging	1.00
R1856:Hcrtr2	UTSW	9	76,167,067 (GRCm39)	missense	probably damaging	1.00
R1876:Hcrtr2	UTSW	9	76,153,627 (GRCm39)	critical splice donor site	probably null
R3411:Hcrtr2	UTSW	9	76,140,290 (GRCm39)	missense	probably benign	0.30
R4469:Hcrtr2	UTSW	9	76,137,838 (GRCm39)	missense	probably benign	0.30
R4560:Hcrtr2	UTSW	9	76,161,970 (GRCm39)	missense	probably damaging	1.00
R4797:Hcrtr2	UTSW	9	76,161,816 (GRCm39)	missense	probably damaging	1.00
R5001:Hcrtr2	UTSW	9	76,137,886 (GRCm39)	missense	probably benign	0.00
R5027:Hcrtr2	UTSW	9	76,230,578 (GRCm39)	missense	probably benign	0.31
R5770:Hcrtr2	UTSW	9	76,166,948 (GRCm39)	missense	probably damaging	0.98
R5826:Hcrtr2	UTSW	9	76,230,569 (GRCm39)	missense	probably benign	0.32
R6023:Hcrtr2	UTSW	9	76,137,886 (GRCm39)	missense	probably benign	0.00
R6110:Hcrtr2	UTSW	9	76,167,064 (GRCm39)	missense	probably damaging	1.00
R7084:Hcrtr2	UTSW	9	76,137,942 (GRCm39)	missense	probably benign	0.21
R7103:Hcrtr2	UTSW	9	76,161,793 (GRCm39)	missense	probably benign	0.00
R7173:Hcrtr2	UTSW	9	76,167,013 (GRCm39)	missense	probably damaging	1.00
R7783:Hcrtr2	UTSW	9	76,140,196 (GRCm39)	missense	probably damaging	1.00
R8255:Hcrtr2	UTSW	9	76,140,203 (GRCm39)	missense	probably damaging	1.00
R8870:Hcrtr2	UTSW	9	76,153,666 (GRCm39)	missense	probably damaging	0.99
R9023:Hcrtr2	UTSW	9	76,161,854 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GAGATCCCTCCTAGTTTGTAAATTCAG -3'
(R):5'- TGATGTCCAGCACCAAACTG -3'

Sequencing Primer
(F):5'- GCAGCGACCTCTTTGTTT -3'
(R):5'- GCACCAAACTGGAGGATTCC -3'

Posted On

2016-10-26