Mutagenetix > Incidental Mutation

Incidental Mutation 'R2289:Hcrt'

244223

Institutional Source

Beutler Lab

Gene Symbol

Hcrt

Ensembl Gene

ENSMUSG00000045471

Gene Name

hypocretin

Synonyms

orexin B, orexin A

MMRRC Submission

040288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100652519-100653757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100652745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 90 (A90S)

Ref Sequence

ENSEMBL: ENSMUSP00000057578 (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

probably damaging
Transcript: ENSMUST00000055083
AA Change: A90S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057578
Gene: ENSMUSG00000045471
AA Change: A90S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147682

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp12a	G	A	14: 56,610,719 (GRCm39)	V288I	possibly damaging	Het
Cntn6	C	T	6: 104,545,989 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cplx3	T	A	9: 57,520,941 (GRCm39)	E220V	possibly damaging	Het
Cracdl	T	C	1: 37,651,342 (GRCm39)	K1175R	possibly damaging	Het
Dcaf10	T	A	4: 45,359,816 (GRCm39)	W244R	probably damaging	Het
Dixdc1	A	G	9: 50,595,172 (GRCm39)		probably null	Het
Dlg4	T	A	11: 69,917,752 (GRCm39)	Y12N	probably damaging	Het
Fsd1l	T	A	4: 53,696,931 (GRCm39)	Y442N	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Itga6	T	A	2: 71,648,873 (GRCm39)	V119D	probably damaging	Het
Klrh1	T	C	6: 129,745,140 (GRCm39)	N152S	probably null	Het
Lmtk2	T	A	5: 144,112,924 (GRCm39)	S1215T	possibly damaging	Het
Loxl2	G	A	14: 69,930,524 (GRCm39)	E763K	probably benign	Het
Mcrip1	T	C	11: 120,435,530 (GRCm39)	E35G	probably damaging	Het
Nle1	T	A	11: 82,793,879 (GRCm39)	I386F	probably benign	Het
Nqo1	T	C	8: 108,119,630 (GRCm39)	I8V	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Pax8	T	C	2: 24,330,752 (GRCm39)	D227G	probably benign	Het
Phf14	T	C	6: 12,047,845 (GRCm39)	C885R	probably damaging	Het
Rhobtb3	A	C	13: 76,059,046 (GRCm39)	C251G	probably damaging	Het
Samd13	C	T	3: 146,368,446 (GRCm39)	A49T	probably damaging	Het
Snrpa1	T	A	7: 65,713,586 (GRCm39)	V101E	probably benign	Het
Styx	A	G	14: 45,592,404 (GRCm39)	E20G	possibly damaging	Het
Thoc1	T	C	18: 9,984,488 (GRCm39)	Y325H	probably damaging	Het
Tmem163	T	A	1: 127,423,477 (GRCm39)	T262S	possibly damaging	Het
Tsr1	T	G	11: 74,790,111 (GRCm39)	L102R	probably damaging	Het
Vash1	G	C	12: 86,726,952 (GRCm39)	R64P	probably damaging	Het
Vps13b	A	C	15: 35,572,251 (GRCm39)	D956A	probably damaging	Het
Vrk1	G	A	12: 106,024,120 (GRCm39)	G199S	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp870	A	T	17: 33,102,334 (GRCm39)	S333T	probably benign	Het
Zranb1	T	C	7: 132,551,768 (GRCm39)	Y140H	probably damaging	Het
Zscan4b	A	G	7: 10,635,789 (GRCm39)		probably null	Het

Other mutations in Hcrt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8704:Hcrt	UTSW	11	100,652,752 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

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

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

Posted On

2014-10-30