Mutagenetix > Incidental Mutation

Incidental Mutation 'R7042:Hcrtr1'

547102

Institutional Source

Beutler Lab

Gene Symbol

Hcrtr1

Ensembl Gene

ENSMUSG00000028778

Gene Name

hypocretin (orexin) receptor 1

Synonyms

OX1R

MMRRC Submission

045141-MU

Accession Numbers

Essential gene?

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

Stock #

R7042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130024010-130033152 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 130024653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112638 (fasta)

Gene Model

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

AlphaFold

P58307

Predicted Effect

unknown
Transcript: ENSMUST00000030562
AA Change: V411A

SMART Domains

Protein: ENSMUSP00000030562
Gene: ENSMUSG00000028778
AA Change: V411A

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

unknown
Transcript: ENSMUST00000119423
AA Change: V411A

SMART Domains

Protein: ENSMUSP00000112630
Gene: ENSMUSG00000028778
AA Change: V411A

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

unknown
Transcript: ENSMUST00000120154
AA Change: V411A

SMART Domains

Protein: ENSMUSP00000113198
Gene: ENSMUSG00000028778
AA Change: V411A

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

unknown
Transcript: ENSMUST00000164887
AA Change: V411A

SMART Domains

Protein: ENSMUSP00000127290
Gene: ENSMUSG00000028778
AA Change: V411A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,192,098 (GRCm39)	S554G	possibly damaging	Het
Adcy7	G	T	8: 89,042,378 (GRCm39)	R415L	probably damaging	Het
Aox1	A	T	1: 58,141,759 (GRCm39)	I1182F	probably damaging	Het
Ccdc7b	T	A	8: 129,811,730 (GRCm39)	Y147N	probably benign	Het
Clcnka	A	G	4: 141,118,691 (GRCm39)	I398T	probably damaging	Het
Cst8	T	A	2: 148,641,796 (GRCm39)		probably null	Het
Dcxr	T	C	11: 120,617,841 (GRCm39)	D45G	possibly damaging	Het
Dhx38	A	T	8: 110,283,617 (GRCm39)	M510K	possibly damaging	Het
Dync2i1	T	C	12: 116,218,061 (GRCm39)	I182M	probably benign	Het
Ebf1	T	A	11: 44,882,338 (GRCm39)	H431Q	probably damaging	Het
Eml4	T	C	17: 83,768,999 (GRCm39)	I681T	probably damaging	Het
Etf1	T	C	18: 35,043,219 (GRCm39)	N164S	probably benign	Het
Fmo2	A	G	1: 162,708,226 (GRCm39)	V303A	probably damaging	Het
Foxl2	T	A	9: 98,837,715 (GRCm39)	M1K	probably null	Het
Gm3404	A	T	5: 146,462,969 (GRCm39)	E50D	probably benign	Het
Gpr61	G	A	3: 108,058,647 (GRCm39)	P5S	possibly damaging	Het
Ier3ip1	T	A	18: 77,017,828 (GRCm39)	F3I	possibly damaging	Het
Ifi206	G	A	1: 173,308,808 (GRCm39)	P396L		Het
Ifi209	G	A	1: 173,470,236 (GRCm39)	V275I	probably benign	Het
Ighv1-69	T	C	12: 115,586,909 (GRCm39)	S75G	probably benign	Het
Kcnj3	A	T	2: 55,484,877 (GRCm39)	H325L	possibly damaging	Het
Klrk1	A	T	6: 129,593,734 (GRCm39)	S50T	possibly damaging	Het
Mfsd4b4	T	A	10: 39,768,514 (GRCm39)	Y193F	probably damaging	Het
Nlrp5	A	G	7: 23,116,905 (GRCm39)	I210V	possibly damaging	Het
Or4p20	T	A	2: 88,253,746 (GRCm39)	I208F	possibly damaging	Het
Or5w12	A	T	2: 87,501,935 (GRCm39)	Y259N	possibly damaging	Het
Or8b3	G	T	9: 38,314,196 (GRCm39)	G6C	probably damaging	Het
Or8d23	A	G	9: 38,841,622 (GRCm39)	S52G	possibly damaging	Het
Pax6	A	T	2: 105,526,718 (GRCm39)	H208L	probably benign	Het
Pgc	C	A	17: 48,044,745 (GRCm39)	Q331K	probably benign	Het
Phldb1	A	G	9: 44,605,721 (GRCm39)	S370P	probably damaging	Het
Pi4k2a	T	C	19: 42,093,337 (GRCm39)	I226T	probably benign	Het
Pick1	T	C	15: 79,132,965 (GRCm39)	S342P	probably damaging	Het
Plscr1	A	G	9: 92,153,588 (GRCm39)	M312V	probably damaging	Het
Ppp3cc	T	G	14: 70,462,468 (GRCm39)	K399Q	probably benign	Het
Qpctl	T	C	7: 18,880,943 (GRCm39)	H163R	probably benign	Het
Rab11fip5	A	G	6: 85,351,110 (GRCm39)	V134A	possibly damaging	Het
Rasal1	T	A	5: 120,802,025 (GRCm39)		probably null	Het
Rem2	T	A	14: 54,715,548 (GRCm39)	I171N	probably damaging	Het
Sec22a	T	A	16: 35,149,885 (GRCm39)	I214L	probably benign	Het
Setbp1	T	C	18: 79,130,070 (GRCm39)	D54G	probably damaging	Het
Slc27a2	C	T	2: 126,409,700 (GRCm39)	A294V	probably damaging	Het
Slfn14	T	A	11: 83,167,430 (GRCm39)	D695V	probably damaging	Het
Smc6	T	A	12: 11,359,301 (GRCm39)	I975K	probably damaging	Het
Spice1	T	C	16: 44,206,043 (GRCm39)	F835L	probably benign	Het
Tars2	A	T	3: 95,658,057 (GRCm39)	H222Q	probably benign	Het
Tmtc2	A	T	10: 105,206,477 (GRCm39)	F273I	probably damaging	Het
Ttc39d	C	A	17: 80,523,891 (GRCm39)	D183E	probably benign	Het
Vasp	A	G	7: 18,995,946 (GRCm39)	S128P	probably benign	Het
Vcpip1	A	G	1: 9,818,378 (GRCm39)	S2P	unknown	Het
Vmn2r98	T	C	17: 19,301,184 (GRCm39)	Y729H	probably benign	Het
Wdr18	A	T	10: 79,801,944 (GRCm39)	D243V	probably benign	Het
Xirp2	T	C	2: 67,343,633 (GRCm39)	V1958A	probably benign	Het
Zfp451	A	T	1: 33,816,474 (GRCm39)	M492K	probably damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	probably benign	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
R4967:Hcrtr1	UTSW	4	130,024,792 (GRCm39)	missense	possibly damaging	0.69
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
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'- GAGCAGCTTAAGCCCCTATC -3'
(R):5'- TGTTCCTTGAGGTCAACCCC -3'

Sequencing Primer
(F):5'- CCCTATCCACCCAGCTTAGG -3'
(R):5'- GAGGTCAACCCCCTTCCTG -3'

Posted On

2019-05-13