Mutagenetix > Incidental Mutation

Incidental Mutation 'R3411:Hcrtr2'

267722

Institutional Source

Beutler Lab

Gene Symbol

Hcrtr2

Ensembl Gene

ENSMUSG00000032360

Gene Name

hypocretin (orexin) receptor 2

Synonyms

mOX2bR, mOX2aR, mOXR2, OX2r

MMRRC Submission

040629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76133162-76230905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76140290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 333 (F333L)

Ref Sequence

ENSEMBL: ENSMUSP00000139377 (fasta)

Gene Model

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

AlphaFold

P58308

Predicted Effect

probably benign
Transcript: ENSMUST00000063140
AA Change: F333L

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: F333L

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 benign
Transcript: ENSMUST00000184757
AA Change: F333L

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: F333L

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

Meta Mutation Damage Score

0.2353

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (62/62)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,466,596 (GRCm39)	V675D	possibly damaging	Het
Adamts16	T	C	13: 70,901,345 (GRCm39)	T911A	probably benign	Het
Adgra1	T	C	7: 139,427,619 (GRCm39)	F62S	possibly damaging	Het
Adgra3	A	G	5: 50,159,272 (GRCm39)	V326A	probably damaging	Het
Aff1	T	A	5: 103,902,572 (GRCm39)	M1K	probably null	Het
AI429214	C	T	8: 37,461,071 (GRCm39)	S73L	probably benign	Het
Apc	C	A	18: 34,402,312 (GRCm39)		probably benign	Het
Apcs	T	C	1: 172,722,130 (GRCm39)	Y72C	probably damaging	Het
Arid4a	T	C	12: 71,108,299 (GRCm39)		probably benign	Het
Armcx4	C	A	X: 133,591,774 (GRCm39)	Q561K	probably benign	Het
Atp5po	C	T	16: 91,725,794 (GRCm39)	R64H	probably damaging	Het
Bank1	G	A	3: 135,953,534 (GRCm39)		probably benign	Het
Ccdc150	A	G	1: 54,395,932 (GRCm39)	D805G	probably benign	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Dnah1	A	T	14: 30,991,774 (GRCm39)	M3076K	possibly damaging	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Egfem1	C	T	3: 29,637,170 (GRCm39)	T202I	probably damaging	Het
Fam120b	T	A	17: 15,651,897 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,881,416 (GRCm39)	T1263A	possibly damaging	Het
Gm6802	C	A	12: 19,540,621 (GRCm39)		noncoding transcript	Het
Golga2	C	A	2: 32,192,954 (GRCm39)	A424E	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Grik5	T	C	7: 24,762,397 (GRCm39)	D198G	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Htr1b	A	C	9: 81,514,094 (GRCm39)	V171G	probably benign	Het
Kalrn	G	T	16: 34,032,642 (GRCm39)	D1117E	probably benign	Het
Kcp	T	C	6: 29,482,845 (GRCm39)	N1408S	possibly damaging	Het
Klhl7	G	T	5: 24,343,319 (GRCm39)	V212L	probably damaging	Het
Klra17	T	A	6: 129,851,809 (GRCm39)	N21I	probably damaging	Het
Lrrc8d	A	T	5: 105,974,572 (GRCm39)		noncoding transcript	Het
Mast2	C	G	4: 116,168,107 (GRCm39)	E881Q	possibly damaging	Het
Mcm6	T	C	1: 128,279,322 (GRCm39)	T155A	probably benign	Het
Mslnl	T	C	17: 25,963,491 (GRCm39)	F326L	probably benign	Het
Nlrp4c	A	G	7: 6,095,569 (GRCm39)	K816E	possibly damaging	Het
Or10g1	T	A	14: 52,647,818 (GRCm39)	R170S	possibly damaging	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5p69	A	T	7: 107,967,551 (GRCm39)	I285F	possibly damaging	Het
Or8k3	T	C	2: 86,058,986 (GRCm39)	S110G	probably benign	Het
Otoa	A	G	7: 120,721,266 (GRCm39)	Q427R	probably damaging	Het
Pcdhb6	A	G	18: 37,468,945 (GRCm39)	E622G	probably damaging	Het
Pdzd8	A	G	19: 59,333,845 (GRCm39)	Y59H	probably damaging	Het
Psmc3	A	C	2: 90,886,263 (GRCm39)	D159A	probably damaging	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Rpn2	C	A	2: 157,132,572 (GRCm39)	A108E	possibly damaging	Het
Serpina3n	A	G	12: 104,377,536 (GRCm39)	E263G	possibly damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Slc16a4	G	A	3: 107,208,188 (GRCm39)	E233K	probably benign	Het
Smu1	T	C	4: 40,752,008 (GRCm39)	T183A	probably benign	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Styxl1	T	C	5: 135,794,618 (GRCm39)	Y83C	probably damaging	Het
Sypl2	C	T	3: 108,124,045 (GRCm39)	V166I	possibly damaging	Het
Tal2	A	G	4: 53,785,843 (GRCm39)	N8S	probably damaging	Het
Tenm4	T	C	7: 96,501,737 (GRCm39)	Y1314H	probably damaging	Het
Ttn	A	C	2: 76,772,749 (GRCm39)	N2415K	possibly damaging	Het
Usp53	T	C	3: 122,743,507 (GRCm39)		probably null	Het
Vmn2r65	T	C	7: 84,595,896 (GRCm39)	I263V	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
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
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'- CTACTTTAGAATTGCCTCGGGG -3'
(R):5'- TTGCATTTCCTGGTTGCAAG -3'

Sequencing Primer
(F):5'- GGGCATCTGCTCTAGAAACTC -3'
(R):5'- GCAAGACATGGAGACTTTTTCTGAGC -3'

Posted On

2015-02-18