Mutagenetix > Incidental Mutation

Incidental Mutation 'R5375:Hcrtr1'

429001

Institutional Source

Beutler Lab

Gene Symbol

Hcrtr1

Ensembl Gene

ENSMUSG00000028778

Gene Name

hypocretin (orexin) receptor 1

Synonyms

OX1R

MMRRC Submission

042951-MU

Accession Numbers

Essential gene?

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

Stock #

R5375 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130130217-130139359 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130135725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 188 (V188M)

Ref Sequence

ENSEMBL: ENSMUSP00000127290 (fasta)

Gene Model

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

AlphaFold

P58307

Predicted Effect

probably benign
Transcript: ENSMUST00000030562
AA Change: V188M

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030562
Gene: ENSMUSG00000028778
AA Change: V188M

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: ENSMUST00000119423
AA Change: V188M

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112630
Gene: ENSMUSG00000028778
AA Change: V188M

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

probably benign
Transcript: ENSMUST00000120154
AA Change: V188M

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113198
Gene: ENSMUSG00000028778
AA Change: V188M

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: ENSMUST00000164887
AA Change: V188M

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127290
Gene: ENSMUSG00000028778
AA Change: V188M

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	T	A	12: 4,210,870 (GRCm38)	N995K	probably damaging	Het
Aldh4a1	T	C	4: 139,633,922 (GRCm38)	M60T	probably benign	Het
Alpk2	A	T	18: 65,372,738 (GRCm38)	H70Q	probably damaging	Het
Babam2	T	A	5: 31,701,863 (GRCm38)	I5N	possibly damaging	Het
Blm	T	C	7: 80,513,229 (GRCm38)	T125A	probably benign	Het
Bloc1s1	T	C	10: 128,923,957 (GRCm38)		probably benign	Het
Calcr	G	T	6: 3,714,651 (GRCm38)	Q160K	probably benign	Het
Ccdc43	C	T	11: 102,690,232 (GRCm38)	A131T	probably damaging	Het
Cdh15	A	T	8: 122,865,100 (GRCm38)	N575Y	probably damaging	Het
Chd8	T	C	14: 52,204,154 (GRCm38)	D827G	probably damaging	Het
Col3a1	A	G	1: 45,347,899 (GRCm38)		probably null	Het
Creb5	A	T	6: 53,681,017 (GRCm38)	M255L	possibly damaging	Het
Cst8	A	G	2: 148,804,583 (GRCm38)	I78V	probably benign	Het
Cyld	A	G	8: 88,733,036 (GRCm38)	E440G	possibly damaging	Het
Cyp2b9	A	C	7: 26,187,742 (GRCm38)	D192A	probably damaging	Het
Dclre1b	C	T	3: 103,803,974 (GRCm38)	R207H	probably damaging	Het
Dnah6	A	T	6: 73,123,855 (GRCm38)	F1936L	probably damaging	Het
Dpp9	A	C	17: 56,189,424 (GRCm38)	Y761*	probably null	Het
Drc1	A	T	5: 30,356,401 (GRCm38)	M434L	probably benign	Het
Dtx3l	A	T	16: 35,933,027 (GRCm38)	I403N	probably damaging	Het
Ecpas	T	A	4: 58,809,401 (GRCm38)	K1658*	probably null	Het
Efcab9	A	G	11: 32,527,484 (GRCm38)	Y13H	probably damaging	Het
Efhb	T	A	17: 53,401,626 (GRCm38)	N672I	possibly damaging	Het
Eif5b	T	C	1: 38,045,754 (GRCm38)	V894A	possibly damaging	Het
Elovl3	T	C	19: 46,134,696 (GRCm38)	F237S	probably benign	Het
Emc1	T	A	4: 139,366,491 (GRCm38)	D637E	probably damaging	Het
Erbb2	C	A	11: 98,433,412 (GRCm38)	P742Q	probably damaging	Het
Fam234b	C	A	6: 135,233,357 (GRCm38)	L584M	probably damaging	Het
Fancd2	A	T	6: 113,568,712 (GRCm38)	D14V	possibly damaging	Het
Fat2	T	C	11: 55,262,820 (GRCm38)	H3522R	probably benign	Het
Fgfr2	T	C	7: 130,241,215 (GRCm38)	N147D	possibly damaging	Het
Gm26657	A	G	4: 56,741,180 (GRCm38)		probably benign	Het
Herc1	T	C	9: 66,467,887 (GRCm38)	V3331A	probably damaging	Het
Hmcn2	T	C	2: 31,430,441 (GRCm38)	V3978A	possibly damaging	Het
Invs	G	A	4: 48,385,262 (GRCm38)	R202K	probably benign	Het
Lgr5	C	T	10: 115,478,564 (GRCm38)	S156N	probably benign	Het
Mras	T	G	9: 99,394,616 (GRCm38)	D67A	probably damaging	Het
Mrpl39	A	G	16: 84,723,902 (GRCm38)	L283P	probably damaging	Het
Ncoa6	A	T	2: 155,433,995 (GRCm38)	I110N	probably benign	Het
Neb	T	C	2: 52,212,584 (GRCm38)	D544G	possibly damaging	Het
Nlrc3	A	G	16: 3,964,753 (GRCm38)	I264T	possibly damaging	Het
Or10a2	T	A	7: 107,073,873 (GRCm38)	M15K	probably benign	Het
Or1j13	A	G	2: 36,479,297 (GRCm38)	Y278H	probably damaging	Het
Or5k16	T	C	16: 58,915,885 (GRCm38)	Y252C	possibly damaging	Het
Or7g18	A	G	9: 18,876,146 (GRCm38)	K273R	probably benign	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Phf11d	T	C	14: 59,352,671 (GRCm38)	D234G	probably null	Het
Polq	A	T	16: 37,082,784 (GRCm38)	D1980V	probably damaging	Het
Rasa1	A	T	13: 85,288,903 (GRCm38)		probably benign	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Sec23a	A	G	12: 59,007,005 (GRCm38)	V69A	probably benign	Het
Sipa1	A	G	19: 5,659,612 (GRCm38)	I260T	probably damaging	Het
Smarcc1	T	A	9: 110,190,949 (GRCm38)	L628H	probably damaging	Het
Snx31	A	G	15: 36,525,584 (GRCm38)	V323A	probably damaging	Het
Sun2	A	G	15: 79,727,522 (GRCm38)	S565P	probably damaging	Het
Tmem74	C	T	15: 43,867,168 (GRCm38)	D160N	possibly damaging	Het
Tnik	T	C	3: 28,594,092 (GRCm38)	M431T	probably benign	Het
Trp53inp1	A	G	4: 11,165,305 (GRCm38)	T110A	probably benign	Het
Ttll9	G	T	2: 152,984,224 (GRCm38)	C118F	probably benign	Het
Vps4b	A	G	1: 106,791,692 (GRCm38)	L42P	probably benign	Het
Xirp2	A	T	2: 67,511,906 (GRCm38)	N1497I	probably damaging	Het
Xpo4	A	G	14: 57,638,307 (GRCm38)	V123A	probably damaging	Het
Zfhx4	A	T	3: 5,412,425 (GRCm38)	T3367S	probably damaging	Het
Zfp236	T	C	18: 82,597,688 (GRCm38)	E1782G	possibly damaging	Het
Zfp35	T	A	18: 24,002,916 (GRCm38)	C106S	possibly damaging	Het
Zfpm1	A	G	8: 122,336,073 (GRCm38)	T624A	probably benign	Het
Zmiz2	C	T	11: 6,397,519 (GRCm38)	Q276*	probably null	Het

Other mutations in Hcrtr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Hcrtr1	APN	4	130,137,269 (GRCm38)	missense	probably damaging	1.00
IGL00754:Hcrtr1	APN	4	130,137,233 (GRCm38)	missense	probably damaging	1.00
IGL02005:Hcrtr1	APN	4	130,137,263 (GRCm38)	missense	probably benign	0.31
R0084:Hcrtr1	UTSW	4	130,137,266 (GRCm38)	missense	possibly damaging	0.79
R0590:Hcrtr1	UTSW	4	130,135,694 (GRCm38)	missense	probably damaging	0.96
R1531:Hcrtr1	UTSW	4	130,130,927 (GRCm38)	nonsense	probably null
R1659:Hcrtr1	UTSW	4	130,135,336 (GRCm38)	nonsense	probably null
R2055:Hcrtr1	UTSW	4	130,130,887 (GRCm38)	missense	probably benign	0.08
R3028:Hcrtr1	UTSW	4	130,135,811 (GRCm38)	missense	probably benign	0.31
R4488:Hcrtr1	UTSW	4	130,135,763 (GRCm38)	missense	probably benign	0.02
R4967:Hcrtr1	UTSW	4	130,130,999 (GRCm38)	missense	possibly damaging	0.69
R5301:Hcrtr1	UTSW	4	130,137,670 (GRCm38)	splice site	probably null
R5636:Hcrtr1	UTSW	4	130,130,945 (GRCm38)	missense	possibly damaging	0.59
R6283:Hcrtr1	UTSW	4	130,135,340 (GRCm38)	missense	probably benign	0.01
R6505:Hcrtr1	UTSW	4	130,137,586 (GRCm38)	missense	probably benign
R7018:Hcrtr1	UTSW	4	130,135,868 (GRCm38)	missense	probably damaging	1.00
R7042:Hcrtr1	UTSW	4	130,130,860 (GRCm38)	unclassified	probably benign
R7091:Hcrtr1	UTSW	4	130,130,914 (GRCm38)	missense	probably damaging	0.99
R7259:Hcrtr1	UTSW	4	130,135,818 (GRCm38)	missense	possibly damaging	0.79
R7612:Hcrtr1	UTSW	4	130,135,685 (GRCm38)	missense	possibly damaging	0.61
R8140:Hcrtr1	UTSW	4	130,135,290 (GRCm38)	missense	probably damaging	0.99
R9410:Hcrtr1	UTSW	4	130,135,721 (GRCm38)	missense	probably damaging	0.98
R9485:Hcrtr1	UTSW	4	130,137,261 (GRCm38)	missense	possibly damaging	0.95
Z1177:Hcrtr1	UTSW	4	130,133,873 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AATTGCCCAGTCTAGTGGTGC -3'
(R):5'- GCCCTACCTCTGATGTTGTG -3'

Sequencing Primer
(F):5'- AGTCTAGTGGTGCCAGCCTG -3'
(R):5'- ACCTCTGATGTTGTGTCCCTGTG -3'

Posted On

2016-09-06