Mutagenetix > Incidental Mutation

Incidental Mutation 'R8704:Hcrt'

669204

Institutional Source

Beutler Lab

Gene Symbol

Hcrt

Ensembl Gene

ENSMUSG00000045471

Gene Name

hypocretin

Synonyms

orexin B, orexin A

MMRRC Submission

068558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8704 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100652519-100653757 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to T at 100652752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017891] [ENSMUST00000055083] [ENSMUST00000107360] [ENSMUST00000107361] [ENSMUST00000107363]

AlphaFold

O55241

Predicted Effect

probably benign
Transcript: ENSMUST00000017891

SMART Domains

Protein: ENSMUSP00000017891
Gene: ENSMUSG00000017747

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	101	114	N/A	INTRINSIC
Pfam:GH3	177	519	1e-62	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000055083

SMART Domains

Protein: ENSMUSP00000057578
Gene: ENSMUSG00000045471

Domain	Start	End	E-Value	Type
Pfam:Orexin	1	129	2.2e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107360

SMART Domains

Protein: ENSMUSP00000102983
Gene: ENSMUSG00000045471

Domain	Start	End	E-Value	Type
Pfam:Orexin	1	106	2.3e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107361

SMART Domains

Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355

Domain	Start	End	E-Value	Type
PAS	16	88	1.41e-1	SMART
PAC	94	136	4.88e-5	SMART
low complexity region	155	168	N/A	INTRINSIC
Pfam:Ion_trans	226	486	1.5e-32	PFAM
Pfam:Ion_trans_2	412	480	2.3e-12	PFAM
cNMP	556	681	1.27e-12	SMART
low complexity region	726	735	N/A	INTRINSIC
low complexity region	766	787	N/A	INTRINSIC
coiled coil region	874	911	N/A	INTRINSIC
low complexity region	981	1006	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107363

SMART Domains

Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355

Domain	Start	End	E-Value	Type
PAS	16	88	1.41e-1	SMART
PAC	94	136	4.88e-5	SMART
low complexity region	155	168	N/A	INTRINSIC
transmembrane domain	228	250	N/A	INTRINSIC
Pfam:Ion_trans	265	474	1.1e-17	PFAM
Pfam:Ion_trans_2	412	480	2.2e-12	PFAM
cNMP	556	681	1.27e-12	SMART
low complexity region	726	735	N/A	INTRINSIC
low complexity region	766	787	N/A	INTRINSIC
coiled coil region	874	911	N/A	INTRINSIC
low complexity region	981	1006	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

98% (39/40)

MGI Phenotype

FUNCTION: This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors Hcrtr1 and Hcrtr2, function in the regulation of sleep and arousal. This neuropeptide arrangement may also play a role in feeding behavior, metabolism, and homeostasis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit altered sleep patterns, frequent periods of behavioral arrest resembling human narcolepsy, and attenuated morphine dependence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,773,489 (GRCm39)	Q628R	possibly damaging	Het
Agbl1	G	T	7: 76,239,302 (GRCm39)		probably benign	Het
Brf2	A	G	8: 27,618,499 (GRCm39)	V35A	possibly damaging	Het
Chtf8	A	C	8: 107,612,672 (GRCm39)	M89R	probably benign	Het
Copa	A	G	1: 171,931,693 (GRCm39)	I315V	probably benign	Het
Csmd2	G	A	4: 128,091,147 (GRCm39)	E229K		Het
Etf1	T	C	18: 35,039,139 (GRCm39)	E376G	probably damaging	Het
Fat2	T	A	11: 55,172,137 (GRCm39)	I2859F	probably damaging	Het
Foxp1	C	G	6: 98,993,507 (GRCm39)	Q132H	unknown	Het
Gal3st3	T	C	19: 5,352,663 (GRCm39)	V30A	probably benign	Het
Gars1	C	T	6: 55,040,215 (GRCm39)	R381C	probably damaging	Het
Gjd3	C	T	11: 98,873,445 (GRCm39)	R133H	probably damaging	Het
Haspin	T	C	11: 73,028,828 (GRCm39)	N87S	probably benign	Het
Heatr6	T	A	11: 83,668,104 (GRCm39)	M866K	probably benign	Het
Igf1r	T	C	7: 67,819,802 (GRCm39)		probably benign	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Lypd5	A	G	7: 24,050,982 (GRCm39)	H31R	possibly damaging	Het
Mib2	A	G	4: 155,743,620 (GRCm39)	M275T	possibly damaging	Het
Mmp19	G	A	10: 128,634,703 (GRCm39)	V440I	probably benign	Het
Nefm	T	C	14: 68,358,510 (GRCm39)	E508G	unknown	Het
Nlrp4a	A	T	7: 26,156,563 (GRCm39)	I763L	probably benign	Het
Or5p61	A	T	7: 107,758,711 (GRCm39)	V123D	possibly damaging	Het
Or9g4	T	A	2: 85,504,562 (GRCm39)	H311L		Het
Pcdhb1	T	A	18: 37,399,402 (GRCm39)	V451D	possibly damaging	Het
Pfkfb2	T	C	1: 130,625,780 (GRCm39)	N467D	probably benign	Het
Ptprc	G	A	1: 138,043,362 (GRCm39)	T63I	probably benign	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Rhobtb2	G	A	14: 70,031,373 (GRCm39)	P584L	probably damaging	Het
Rhoc	G	C	3: 104,699,342 (GRCm39)	A44P	probably damaging	Het
Sardh	T	C	2: 27,120,477 (GRCm39)	E435G	possibly damaging	Het
Stfa1	A	T	16: 36,105,536 (GRCm39)	D89V	probably damaging	Het
Tec	T	C	5: 72,926,105 (GRCm39)	K316E	probably damaging	Het
Tsen15	A	T	1: 152,247,541 (GRCm39)	Y150*	probably null	Het
Ugt1a5	T	C	1: 88,094,087 (GRCm39)	I105T	probably benign	Het
Usp25	A	G	16: 76,856,178 (GRCm39)	D257G	probably benign	Het
Vmn1r195	A	G	13: 22,463,058 (GRCm39)	Y176C	possibly damaging	Het
Wdr31	G	A	4: 62,380,442 (GRCm39)	A87V	probably benign	Het
Wwp2	A	T	8: 108,212,228 (GRCm39)	T177S	probably benign	Het
Zfp28	T	C	7: 6,397,637 (GRCm39)	C691R	probably damaging	Het

Other mutations in Hcrt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2289:Hcrt	UTSW	11	100,652,745 (GRCm39)	missense	probably damaging	1.00
R3983:Hcrt	UTSW	11	100,652,679 (GRCm39)	missense	probably damaging	0.98
R5270:Hcrt	UTSW	11	100,652,823 (GRCm39)	missense	probably damaging	0.96
R5886:Hcrt	UTSW	11	100,652,759 (GRCm39)	missense	probably damaging	1.00
R8539:Hcrt	UTSW	11	100,652,051 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TACCAAGAGACTGACAGCGG -3'
(R):5'- AGTGAAACCCATTTGCACCTTG -3'

Sequencing Primer
(F):5'- GCGAGCAGAGGGGGAAG -3'
(R):5'- CTTTAGGTTCCCTGGGCCG -3'

Posted On

2021-04-30