Incidental Mutation 'IGL00492:Hcrtr2'
| ID |
4842 |
| 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: 0.061)
|
| Stock # |
IGL00492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
76133162-76230905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76153723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 223
(Y223C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063140]
[ENSMUST00000184757]
|
| AlphaFold |
P58308 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063140
AA Change: Y223C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: Y223C
| 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 damaging
Transcript: ENSMUST00000184757
AA Change: Y223C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: Y223C
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap29 |
G |
T |
3: 121,796,961 (GRCm39) |
E108* |
probably null |
Het |
| Braf |
A |
T |
6: 39,637,933 (GRCm39) |
|
probably null |
Het |
| Calr3 |
G |
A |
8: 73,185,240 (GRCm39) |
Q112* |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,320,110 (GRCm39) |
I649T |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,577,670 (GRCm39) |
V65A |
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,209,646 (GRCm39) |
Y126H |
probably damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,856,776 (GRCm39) |
Y170* |
probably null |
Het |
| Efcab7 |
A |
G |
4: 99,719,700 (GRCm39) |
T61A |
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,332,730 (GRCm39) |
L83M |
probably damaging |
Het |
| Fbxo17 |
A |
C |
7: 28,434,766 (GRCm39) |
S184R |
probably damaging |
Het |
| Fcf1 |
T |
C |
12: 85,029,106 (GRCm39) |
|
probably null |
Het |
| Kcnn1 |
A |
G |
8: 71,300,706 (GRCm39) |
F432S |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,719,231 (GRCm39) |
|
probably benign |
Het |
| Lce1j |
T |
C |
3: 92,696,713 (GRCm39) |
T22A |
unknown |
Het |
| Lrfn5 |
T |
A |
12: 61,890,912 (GRCm39) |
S734T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,852,760 (GRCm39) |
S2253R |
possibly damaging |
Het |
| Msantd5f1 |
C |
T |
4: 73,605,570 (GRCm39) |
T327I |
probably damaging |
Het |
| Myrfl |
G |
A |
10: 116,632,011 (GRCm39) |
L645F |
possibly damaging |
Het |
| Nudt9 |
A |
G |
5: 104,209,628 (GRCm39) |
|
probably benign |
Het |
| Ostn |
T |
A |
16: 27,140,132 (GRCm39) |
M15K |
possibly damaging |
Het |
| Psg20 |
T |
C |
7: 18,408,536 (GRCm39) |
T395A |
possibly damaging |
Het |
| Rpf1 |
G |
A |
3: 146,218,002 (GRCm39) |
H171Y |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,063,902 (GRCm39) |
E1325G |
probably damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,571,499 (GRCm39) |
V77L |
probably benign |
Het |
| Tbck |
A |
C |
3: 132,428,501 (GRCm39) |
K285N |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,468 (GRCm39) |
C86Y |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,381 (GRCm39) |
I73T |
probably damaging |
Het |
| Zfp512b |
T |
C |
2: 181,228,862 (GRCm39) |
D701G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,192 (GRCm39) |
Y379N |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 166,878,843 (GRCm39) |
H980Q |
probably damaging |
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 |
|
IGL00782:Hcrtr2
|
APN |
9 |
76,137,779 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation