Mutagenetix > Incidental Mutation

Incidental Mutation 'R5301:Hcrtr1'

475480

Institutional Source

Beutler Lab

Gene Symbol

Hcrtr1

Ensembl Gene

ENSMUSG00000028778

Gene Name

hypocretin (orexin) receptor 1

Synonyms

OX1R

MMRRC Submission

042884-MU

Accession Numbers

Essential gene?

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

Stock #

R5301 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

130024010-130033152 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 130031463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113198 (fasta)

Gene Model

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

AlphaFold

P58307

Predicted Effect

probably null
Transcript: ENSMUST00000030562

SMART Domains

Protein: ENSMUSP00000030562
Gene: ENSMUSG00000028778

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

SMART Domains

Protein: ENSMUSP00000112630
Gene: ENSMUSG00000028778

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 null
Transcript: ENSMUST00000120154

SMART Domains

Protein: ENSMUSP00000113198
Gene: ENSMUSG00000028778

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

SMART Domains

Protein: ENSMUSP00000127290
Gene: ENSMUSG00000028778

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (52/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,896,502 (GRCm39)	V578A	probably damaging	Het
Abcb11	T	C	2: 69,117,191 (GRCm39)	I486V	probably damaging	Het
Abcc9	G	A	6: 142,536,207 (GRCm39)	T1509I	probably benign	Het
Akr1c20	T	A	13: 4,573,279 (GRCm39)	D12V	probably damaging	Het
Asb1	A	G	1: 91,482,475 (GRCm39)	Y66C	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Bcl10	A	G	3: 145,636,342 (GRCm39)	D80G	probably damaging	Het
Bdnf	T	C	2: 109,553,884 (GRCm39)	V46A	probably benign	Het
Cyp11a1	A	G	9: 57,926,544 (GRCm39)		probably benign	Het
Cyp3a44	A	G	5: 145,725,326 (GRCm39)	S292P	probably damaging	Het
Desi2	A	G	1: 178,071,952 (GRCm39)	I85M	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock10	T	C	1: 80,625,973 (GRCm39)	D49G	probably benign	Het
Epcam	T	A	17: 87,944,305 (GRCm39)	L20Q	possibly damaging	Het
Ercc4	T	C	16: 12,948,550 (GRCm39)	V589A	probably damaging	Het
Fcgbp	A	T	7: 27,793,099 (GRCm39)	K1034N	possibly damaging	Het
Fras1	C	T	5: 96,805,125 (GRCm39)	L1256F	possibly damaging	Het
Gata5	T	C	2: 179,975,786 (GRCm39)	Y126C	probably damaging	Het
Gja1	T	C	10: 56,264,475 (GRCm39)	L278P	probably damaging	Het
Gm11596	C	A	11: 99,683,847 (GRCm39)	R91L	unknown	Het
Gm29125	A	T	1: 80,362,154 (GRCm39)		noncoding transcript	Het
Ifi207	G	A	1: 173,556,977 (GRCm39)	S587L	possibly damaging	Het
Ino80d	T	C	1: 63,113,578 (GRCm39)	T291A	probably benign	Het
Itgb3	A	G	11: 104,524,480 (GRCm39)		probably null	Het
Kif26b	A	G	1: 178,358,233 (GRCm39)	S115G	unknown	Het
Klc3	T	C	7: 19,130,274 (GRCm39)	Y301C	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Meioc	A	T	11: 102,570,871 (GRCm39)	R867S	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mthfd2	C	A	6: 83,287,465 (GRCm39)	G200V	probably damaging	Het
Nrap	A	G	19: 56,367,541 (GRCm39)	I312T	probably damaging	Het
Nrp1	T	G	8: 129,160,678 (GRCm39)		probably null	Het
Obscn	A	G	11: 59,026,234 (GRCm39)	L323P	probably damaging	Het
Or11g1	T	C	14: 50,651,030 (GRCm39)	S10P	probably benign	Het
Or1b1	C	T	2: 36,995,210 (GRCm39)	V151M	probably benign	Het
Or9i14	G	A	19: 13,792,933 (GRCm39)	T7I	probably damaging	Het
Pkn2	A	C	3: 142,544,967 (GRCm39)		probably null	Het
Ppp1r18	A	G	17: 36,179,237 (GRCm39)	R371G	probably benign	Het
Prkar2b	A	C	12: 32,025,927 (GRCm39)	V31G	probably damaging	Het
Reg3b	T	A	6: 78,348,243 (GRCm39)	M19K	probably damaging	Het
Sec14l2	G	A	11: 4,068,727 (GRCm39)		probably benign	Het
Sgca	C	T	11: 94,854,157 (GRCm39)	R104Q	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Sorcs2	A	G	5: 36,196,734 (GRCm39)	V637A	probably damaging	Het
Tdrd9	T	A	12: 112,002,963 (GRCm39)		probably null	Het
Tmem181a	T	C	17: 6,346,070 (GRCm39)	I229T	possibly damaging	Het
Tmpo	A	T	10: 90,985,650 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,555,384 (GRCm39)	V280A	probably benign	Het
Vmn1r234	G	T	17: 21,449,589 (GRCm39)	V168F	probably benign	Het
Vmn2r96	T	A	17: 18,817,950 (GRCm39)	I701N	probably damaging	Het
Wnt16	T	A	6: 22,297,848 (GRCm39)	M238K	probably damaging	Het
Zfp607b	A	G	7: 27,403,172 (GRCm39)	T543A	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
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
R7042:Hcrtr1	UTSW	4	130,024,653 (GRCm39)	unclassified	probably benign
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'- TCGGGTAGAGATAATCGCGC -3'
(R):5'- ACGGAGGTAGACAAAGTCCC -3'

Sequencing Primer
(F):5'- GATAATCGCGCCACAGGTATCG -3'
(R):5'- GAGGTAGACAAAGTCCCTAATGTCC -3'

Posted On

2017-04-27