Incidental Mutation 'R4560:Hcrtr2'
| ID |
343048 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
76133162-76230905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76161970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 140
(V140A)
|
| 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: V140A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: V140A
| 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: V140A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: V140A
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
C |
14: 56,016,407 (GRCm39) |
|
probably null |
Het |
| Atp8b1 |
A |
T |
18: 64,689,950 (GRCm39) |
L594* |
probably null |
Het |
| Atp8b1 |
C |
T |
18: 64,701,318 (GRCm39) |
V347I |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,392,745 (GRCm39) |
D342G |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,867,084 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ccdc89 |
T |
G |
7: 90,076,336 (GRCm39) |
L182R |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,233,568 (GRCm39) |
F537S |
probably benign |
Het |
| Cidec |
A |
T |
6: 113,405,399 (GRCm39) |
M118K |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,778,843 (GRCm39) |
|
probably null |
Het |
| Ctif |
A |
T |
18: 75,652,952 (GRCm39) |
L435Q |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,342,903 (GRCm39) |
V533A |
probably damaging |
Het |
| Drc1 |
T |
A |
5: 30,520,441 (GRCm39) |
M594K |
probably benign |
Het |
| Dthd1 |
C |
T |
5: 62,984,435 (GRCm39) |
T380I |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,156,777 (GRCm39) |
S3475P |
possibly damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Ikbke |
C |
T |
1: 131,199,857 (GRCm39) |
C243Y |
probably damaging |
Het |
| Il21 |
C |
A |
3: 37,279,633 (GRCm39) |
E128* |
probably null |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Me3 |
G |
T |
7: 89,498,938 (GRCm39) |
R506L |
probably benign |
Het |
| Mtf2 |
T |
A |
5: 108,234,855 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
G |
12: 13,633,528 (GRCm39) |
N2311S |
probably benign |
Het |
| Nomo1 |
G |
T |
7: 45,690,904 (GRCm39) |
V97L |
probably damaging |
Het |
| Pcdhb11 |
G |
A |
18: 37,556,787 (GRCm39) |
V706I |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,282,082 (GRCm39) |
R2920C |
probably damaging |
Het |
| Prox2 |
T |
C |
12: 85,141,817 (GRCm39) |
T129A |
probably benign |
Het |
| Rgs18 |
T |
G |
1: 144,631,720 (GRCm39) |
I131L |
probably benign |
Het |
| Rnf19b |
G |
T |
4: 128,965,616 (GRCm39) |
C57F |
probably damaging |
Het |
| Rpl11 |
T |
C |
4: 135,778,522 (GRCm39) |
Y122C |
probably damaging |
Het |
| Sarnp |
A |
G |
10: 128,682,412 (GRCm39) |
K5R |
probably damaging |
Het |
| Scg2 |
A |
T |
1: 79,412,898 (GRCm39) |
H568Q |
probably damaging |
Het |
| Septin10 |
T |
C |
10: 59,019,417 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Smco2 |
T |
A |
6: 146,772,674 (GRCm39) |
V292D |
possibly damaging |
Het |
| Smok3c |
A |
G |
5: 138,062,746 (GRCm39) |
M78V |
probably benign |
Het |
| Spag16 |
C |
A |
1: 69,883,455 (GRCm39) |
F61L |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,236,585 (GRCm39) |
R297H |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,889,571 (GRCm39) |
S750P |
probably damaging |
Het |
| Syt3 |
C |
A |
7: 44,045,368 (GRCm39) |
P536Q |
probably benign |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Trim9 |
A |
C |
12: 70,393,892 (GRCm39) |
Y17* |
probably null |
Het |
| Tsga10 |
A |
G |
1: 37,846,163 (GRCm39) |
M321T |
probably benign |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ubxn1 |
C |
T |
19: 8,851,588 (GRCm39) |
T207I |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,678,851 (GRCm39) |
V791D |
probably damaging |
Het |
| Vps54 |
C |
G |
11: 21,262,260 (GRCm39) |
C785W |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,973,860 (GRCm39) |
D43G |
probably benign |
Het |
| Zfp952 |
A |
G |
17: 33,222,928 (GRCm39) |
H469R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGTGAAGCCTACTTACCG -3'
(R):5'- TGAAGTGAAACACCAAGTTCCC -3'
Sequencing Primer
(F):5'- GTTCATCACATACTGTAAAGAGGGTG -3'
(R):5'- TGCACATCTACATTTCTACTTTCATC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation