Incidental Mutation 'IGL03096:Hcrtr2'
ID |
418574 |
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 # |
IGL03096
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
76133162-76230905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76161908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 161
(M161L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063140]
[ENSMUST00000184757]
|
AlphaFold |
P58308 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063140
AA Change: M161L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000058230 Gene: ENSMUSG00000032360 AA Change: M161L
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
AA Change: M161L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139377 Gene: ENSMUSG00000032360 AA Change: M161L
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 |
5730455P16Rik |
A |
G |
11: 80,265,005 (GRCm39) |
F149S |
probably damaging |
Het |
Ablim2 |
A |
T |
5: 36,040,743 (GRCm39) |
K103* |
probably null |
Het |
Anapc4 |
C |
T |
5: 53,023,271 (GRCm39) |
T704I |
possibly damaging |
Het |
Ccar1 |
A |
T |
10: 62,600,112 (GRCm39) |
D606E |
probably benign |
Het |
Ces1d |
T |
C |
8: 93,904,670 (GRCm39) |
I357V |
probably benign |
Het |
Col7a1 |
C |
A |
9: 108,784,856 (GRCm39) |
P228H |
unknown |
Het |
Dock4 |
A |
G |
12: 40,798,000 (GRCm39) |
I875V |
probably benign |
Het |
Fndc3a |
A |
T |
14: 72,836,559 (GRCm39) |
S67T |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,912,760 (GRCm39) |
T3355A |
probably damaging |
Het |
Gtf3a |
G |
A |
5: 146,890,763 (GRCm39) |
R248Q |
probably damaging |
Het |
Il27ra |
G |
T |
8: 84,758,161 (GRCm39) |
L530M |
probably damaging |
Het |
Kcnj15 |
A |
G |
16: 95,097,293 (GRCm39) |
E305G |
probably damaging |
Het |
Map3k6 |
A |
T |
4: 132,978,656 (GRCm39) |
K1086* |
probably null |
Het |
Neb |
T |
C |
2: 52,139,484 (GRCm39) |
I3044V |
possibly damaging |
Het |
Ntng1 |
A |
T |
3: 110,042,665 (GRCm39) |
S54T |
probably benign |
Het |
Or6c208 |
T |
C |
10: 129,224,318 (GRCm39) |
V272A |
probably damaging |
Het |
Pah |
T |
C |
10: 87,374,104 (GRCm39) |
|
probably null |
Het |
Pex3 |
A |
T |
10: 13,410,407 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,599,126 (GRCm39) |
|
probably benign |
Het |
Pramel27 |
A |
G |
4: 143,577,485 (GRCm39) |
D89G |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,957,689 (GRCm39) |
D250E |
probably damaging |
Het |
Prrc2c |
C |
T |
1: 162,529,928 (GRCm39) |
G144S |
unknown |
Het |
Rad51c |
A |
G |
11: 87,279,472 (GRCm39) |
L304P |
probably damaging |
Het |
Rnf20 |
A |
C |
4: 49,638,615 (GRCm39) |
|
probably benign |
Het |
Six3 |
A |
G |
17: 85,929,365 (GRCm39) |
N233S |
possibly damaging |
Het |
Slc2a9 |
T |
A |
5: 38,508,572 (GRCm39) |
I476F |
probably damaging |
Het |
Trps1 |
A |
C |
15: 50,709,875 (GRCm39) |
H154Q |
probably benign |
Het |
Uvssa |
T |
C |
5: 33,568,268 (GRCm39) |
V552A |
probably benign |
Het |
Vmn2r118 |
T |
G |
17: 55,914,996 (GRCm39) |
N550T |
probably damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,487,751 (GRCm39) |
I208K |
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 |
IGL00492:Hcrtr2
|
APN |
9 |
76,153,723 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00782:Hcrtr2
|
APN |
9 |
76,137,779 (GRCm39) |
utr 3 prime |
probably benign |
|
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 |
2016-08-02 |