Incidental Mutation 'IGL00782:Hcrtr2'
| ID |
11214 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hcrtr2
|
| Ensembl Gene |
ENSMUSG00000032360 |
| Gene Name |
hypocretin (orexin) receptor 2 |
| Synonyms |
mOX2bR, mOX2aR, mOXR2, OX2r |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL00782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
76133162-76230905 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 76137779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063140]
[ENSMUST00000184757]
|
| AlphaFold |
P58308 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063140
|
| SMART Domains |
Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
71 |
364 |
2.2e-59 |
PFAM |
|
Pfam:Orexin_rec2
|
386 |
443 |
1.2e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184757
|
| SMART Domains |
Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
71 |
364 |
1.2e-59 |
PFAM |
|
Pfam:Orexin_rec2
|
383 |
443 |
2.2e-47 |
PFAM |
|
| Coding Region Coverage |
|
| 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 binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice bearing targeted mutations in this gene exhibit fragmentation of sleep/wake states with similarity to narcolepsy and rare or very rare episodes of cataplexy. In addition, mice homozygous for a funtionally null allele display enhanced depression-likebehavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
T |
7: 119,172,391 (GRCm39) |
E78V |
probably damaging |
Het |
| Atxn7 |
A |
G |
14: 14,096,218 (GRCm38) |
I508V |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,582 (GRCm39) |
N1075S |
probably benign |
Het |
| Clcn3 |
A |
G |
8: 61,375,826 (GRCm39) |
I689T |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,893,619 (GRCm39) |
|
probably benign |
Het |
| Defb11 |
T |
C |
8: 22,395,510 (GRCm39) |
I56V |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,203,095 (GRCm39) |
N244S |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 57,031,415 (GRCm39) |
S42P |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,675,073 (GRCm39) |
L945S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,331,989 (GRCm39) |
M1589V |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,556,153 (GRCm39) |
|
probably benign |
Het |
| Samd1 |
T |
C |
8: 84,726,246 (GRCm39) |
F464S |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,127,116 (GRCm39) |
S213P |
possibly damaging |
Het |
| Taar1 |
A |
G |
10: 23,796,344 (GRCm39) |
N14S |
probably benign |
Het |
| Tinf2 |
A |
G |
14: 55,917,921 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
C |
10: 12,528,555 (GRCm39) |
N2140S |
probably benign |
Het |
| Zfp780b |
T |
C |
7: 27,664,186 (GRCm39) |
D123G |
probably benign |
Het |
|
| Other mutations in Hcrtr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Hcrtr2
|
APN |
9 |
76,135,437 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL00492:Hcrtr2
|
APN |
9 |
76,153,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03096:Hcrtr2
|
APN |
9 |
76,161,908 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4508001:Hcrtr2
|
UTSW |
9 |
76,153,662 (GRCm39) |
nonsense |
probably null |
|
|
R0038:Hcrtr2
|
UTSW |
9 |
76,166,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0038:Hcrtr2
|
UTSW |
9 |
76,166,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0268:Hcrtr2
|
UTSW |
9 |
76,135,470 (GRCm39) |
missense |
probably benign |
|
|
R0389:Hcrtr2
|
UTSW |
9 |
76,153,662 (GRCm39) |
nonsense |
probably null |
|
|
R0499:Hcrtr2
|
UTSW |
9 |
76,161,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Hcrtr2
|
UTSW |
9 |
76,137,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1622:Hcrtr2
|
UTSW |
9 |
76,230,722 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1637:Hcrtr2
|
UTSW |
9 |
76,140,281 (GRCm39) |
missense |
probably benign |
|
|
R1698:Hcrtr2
|
UTSW |
9 |
76,153,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Hcrtr2
|
UTSW |
9 |
76,167,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Hcrtr2
|
UTSW |
9 |
76,153,627 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3411:Hcrtr2
|
UTSW |
9 |
76,140,290 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4469:Hcrtr2
|
UTSW |
9 |
76,137,838 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4560:Hcrtr2
|
UTSW |
9 |
76,161,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Hcrtr2
|
UTSW |
9 |
76,161,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Hcrtr2
|
UTSW |
9 |
76,137,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5027:Hcrtr2
|
UTSW |
9 |
76,230,578 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5611:Hcrtr2
|
UTSW |
9 |
76,230,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5770:Hcrtr2
|
UTSW |
9 |
76,166,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5826:Hcrtr2
|
UTSW |
9 |
76,230,569 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6023:Hcrtr2
|
UTSW |
9 |
76,137,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6110:Hcrtr2
|
UTSW |
9 |
76,167,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Hcrtr2
|
UTSW |
9 |
76,137,942 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7103:Hcrtr2
|
UTSW |
9 |
76,161,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7173:Hcrtr2
|
UTSW |
9 |
76,167,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Hcrtr2
|
UTSW |
9 |
76,140,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Hcrtr2
|
UTSW |
9 |
76,140,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Hcrtr2
|
UTSW |
9 |
76,153,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9023:Hcrtr2
|
UTSW |
9 |
76,161,854 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2012-12-06 |
Incidental Mutation