Mutagenetix > Incidental Mutation

Incidental Mutation 'R8870:Hcrtr2'

676214

Institutional Source

Beutler Lab

Gene Symbol

Hcrtr2

Ensembl Gene

ENSMUSG00000032360

Gene Name

hypocretin (orexin) receptor 2

Synonyms

mOX2bR, mOX2aR, mOXR2, OX2r

MMRRC Submission

068684-MU

Accession Numbers

Essential gene?

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

Stock #

R8870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76133162-76230905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76153666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 242 (A242D)

Ref Sequence

ENSEMBL: ENSMUSP00000058230 (fasta)

Gene Model

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

AlphaFold

P58308

Predicted Effect

probably damaging
Transcript: ENSMUST00000063140
AA Change: A242D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: A242D

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

probably damaging
Transcript: ENSMUST00000184757
AA Change: A242D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: A242D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,471,840 (GRCm39)	N1082Y	possibly damaging	Het
4930444P10Rik	G	A	1: 16,136,451 (GRCm39)	Q122*	probably null	Het
Afg2a	A	G	3: 37,502,661 (GRCm39)	N607D	probably benign	Het
Ak8	C	T	2: 28,625,602 (GRCm39)	T215M	probably benign	Het
Ano3	T	A	2: 110,614,074 (GRCm39)	I210F	probably benign	Het
Atg9b	A	G	5: 24,592,032 (GRCm39)	F656L	probably damaging	Het
Bscl2	T	C	19: 8,824,793 (GRCm39)	M292T	probably benign	Het
Cachd1	G	T	4: 100,754,978 (GRCm39)	C143F	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Ccnb1ip1	C	T	14: 51,029,450 (GRCm39)	G204E	probably benign	Het
Ccr1	T	A	9: 123,764,022 (GRCm39)	L169F	probably benign	Het
Cdc42bpg	A	G	19: 6,364,550 (GRCm39)	N593D	possibly damaging	Het
Cdh20	T	C	1: 104,873,048 (GRCm39)	S265P	probably damaging	Het
Cenpk	A	G	13: 104,367,365 (GRCm39)	E67G	probably damaging	Het
Cep76	A	T	18: 67,773,190 (GRCm39)	I36K	probably benign	Het
Clock	A	T	5: 76,383,632 (GRCm39)	I507N	probably benign	Het
Cpne1	T	C	2: 155,920,873 (GRCm39)	T110A	probably benign	Het
Crybg2	A	T	4: 133,818,525 (GRCm39)	E1427V	possibly damaging	Het
Ctu1	A	C	7: 43,324,746 (GRCm39)	K62Q	probably damaging	Het
Dnai4	C	T	4: 102,944,529 (GRCm39)		probably null	Het
Drd5	C	A	5: 38,477,747 (GRCm39)	Q247K	possibly damaging	Het
Ect2l	A	T	10: 18,014,608 (GRCm39)	L808*	probably null	Het
Efcab3	A	G	11: 104,791,500 (GRCm39)	T2905A	probably benign	Het
Ficd	A	T	5: 113,876,248 (GRCm39)	D141V	probably damaging	Het
Fnbp1	A	G	2: 30,938,222 (GRCm39)	Y148H		Het
Gm49368	A	G	7: 127,700,685 (GRCm39)	K485R	probably benign	Het
Gpr75	C	A	11: 30,841,860 (GRCm39)	A255D	probably benign	Het
Iapp	G	T	6: 142,244,602 (GRCm39)	V10F	probably benign	Het
Ikzf2	A	G	1: 69,722,417 (GRCm39)	S31P	possibly damaging	Het
Il18rap	G	A	1: 40,564,280 (GRCm39)		probably benign	Het
Irak2	A	T	6: 113,663,902 (GRCm39)	N423Y	probably damaging	Het
Itpkb	A	G	1: 180,159,744 (GRCm39)		probably benign	Het
Itpr1	A	G	6: 108,365,172 (GRCm39)	I874M	probably damaging	Het
Kif26b	G	T	1: 178,692,594 (GRCm39)	V512F	probably damaging	Het
Lhx6	G	A	2: 35,995,232 (GRCm39)		probably benign	Het
Lrfn1	A	G	7: 28,158,918 (GRCm39)	E279G	possibly damaging	Het
Masp1	A	C	16: 23,314,882 (GRCm39)	D126E	probably damaging	Het
Mef2a	T	C	7: 66,890,176 (GRCm39)	I299V	probably benign	Het
Midn	A	G	10: 79,985,939 (GRCm39)	S10G	probably damaging	Het
Mrps12	A	T	7: 28,439,361 (GRCm39)	L118Q	probably damaging	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Mzf1	A	G	7: 12,786,836 (GRCm39)	V78A	probably benign	Het
Ncoa6	A	G	2: 155,263,078 (GRCm39)	V452A	probably damaging	Het
Neb	A	G	2: 52,051,481 (GRCm39)	Y6600H	probably damaging	Het
Nlgn2	A	G	11: 69,716,297 (GRCm39)	L748P	possibly damaging	Het
Nnmt	A	T	9: 48,514,801 (GRCm39)	L72H	probably damaging	Het
Nrxn3	A	G	12: 90,171,560 (GRCm39)	T964A	probably benign	Het
Or12k7	A	G	2: 36,958,982 (GRCm39)	I222V	probably benign	Het
Or1e35	T	G	11: 73,797,725 (GRCm39)	M198L	probably benign	Het
Or2y16	T	A	11: 49,335,350 (GRCm39)	V224E	probably damaging	Het
Or4k35	T	A	2: 111,100,464 (GRCm39)	I83F	possibly damaging	Het
Or5h27	G	A	16: 59,006,130 (GRCm39)	P239S	unknown	Het
Or8c11	A	G	9: 38,289,720 (GRCm39)	N175S	probably benign	Het
Or8g33	A	G	9: 39,337,548 (GRCm39)	V273A	probably damaging	Het
Osbpl11	A	G	16: 33,034,850 (GRCm39)	N280D	probably benign	Het
Peg10	A	T	6: 4,754,825 (GRCm39)	Y202F	probably damaging	Het
Pick1	A	G	15: 79,140,107 (GRCm39)	R469G	unknown	Het
Rev3l	A	G	10: 39,738,786 (GRCm39)	I2847V	probably damaging	Het
Rmc1	A	G	18: 12,321,618 (GRCm39)	E473G	probably benign	Het
Rnaseh2b	T	A	14: 62,569,617 (GRCm39)	L18Q	probably damaging	Het
Rpl19	A	G	11: 97,920,615 (GRCm39)	Y122C	probably benign	Het
Selp	A	G	1: 163,964,787 (GRCm39)	Y483C	probably damaging	Het
Setd2	T	A	9: 110,423,321 (GRCm39)	F347L		Het
Snx14	A	G	9: 88,295,541 (GRCm39)	I208T	probably benign	Het
Spag16	T	A	1: 70,036,017 (GRCm39)	F348L	probably benign	Het
Spata22	A	T	11: 73,231,091 (GRCm39)	N115I	probably damaging	Het
Spata31	T	C	13: 65,068,818 (GRCm39)	V322A	probably benign	Het
Stc1	A	T	14: 69,275,825 (GRCm39)	H206L	probably benign	Het
Tas2r129	A	G	6: 132,928,522 (GRCm39)	D153G	probably damaging	Het
Tmem196	T	A	12: 119,982,268 (GRCm39)	N167K	possibly damaging	Het
Tmpo	T	C	10: 90,987,581 (GRCm39)	T356A	probably damaging	Het
Tnks	A	G	8: 35,314,433 (GRCm39)		probably null	Het
Ttbk1	A	C	17: 46,781,661 (GRCm39)	L364R	probably damaging	Het
Vmn1r176	A	T	7: 23,534,480 (GRCm39)	N224K	probably damaging	Het
Vmn1r36	T	A	6: 66,693,720 (GRCm39)	M52L	probably benign	Het
Vmn2r93	A	T	17: 18,525,320 (GRCm39)	H326L	possibly damaging	Het
Wrn	A	T	8: 33,819,220 (GRCm39)	M244K	probably benign	Het
Zcchc24	C	T	14: 25,757,578 (GRCm39)	A102T	probably benign	Het
Zfp1010	T	A	2: 176,957,312 (GRCm39)	Q62L	probably benign	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
R5611:Hcrtr2	UTSW	9	76,230,596 (GRCm39)	missense	probably damaging	0.98
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
R9023:Hcrtr2	UTSW	9	76,161,854 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGGATGTTTTCATATCCAGAGTC -3'
(R):5'- TGGTCCCATCACTTGAGAAAC -3'

Sequencing Primer
(F):5'- TGTTTTCATATCCAGAGTCTCATTG -3'
(R):5'- GGAAGATTTTACTGTTTGACTCT -3'

Posted On

2021-07-15