Incidental Mutation 'R1637:Hcrtr2'
| ID |
173253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcrtr2
|
| Ensembl Gene |
ENSMUSG00000032360 |
| Gene Name |
hypocretin (orexin) receptor 2 |
| Synonyms |
mOX2bR, mOX2aR, mOXR2, OX2r |
| MMRRC Submission |
039673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1637 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
76133162-76230905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76140281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 336
(T336A)
|
| 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: T336A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: T336A
| 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: T336A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: T336A
| 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: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
A |
5: 109,886,858 (GRCm39) |
H50L |
probably benign |
Het |
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Agpat5 |
A |
G |
8: 18,931,827 (GRCm39) |
R316G |
probably benign |
Het |
| Ankrd39 |
G |
A |
1: 36,578,573 (GRCm39) |
Q151* |
probably null |
Het |
| Arl13b |
T |
C |
16: 62,651,147 (GRCm39) |
D30G |
probably damaging |
Het |
| Atpaf1 |
A |
G |
4: 115,645,499 (GRCm39) |
S123G |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,614 (GRCm39) |
S1276P |
probably benign |
Het |
| Car1 |
T |
C |
3: 14,842,846 (GRCm39) |
I60V |
possibly damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,215,644 (GRCm39) |
I411V |
probably damaging |
Het |
| Cyp2c37 |
A |
T |
19: 39,990,426 (GRCm39) |
K375* |
probably null |
Het |
| Cysrt1 |
T |
C |
2: 25,129,297 (GRCm39) |
I72V |
probably benign |
Het |
| Dock9 |
T |
A |
14: 121,889,187 (GRCm39) |
D312V |
possibly damaging |
Het |
| Ecd |
T |
C |
14: 20,396,760 (GRCm39) |
I42V |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,694 (GRCm39) |
T536A |
probably benign |
Het |
| Gjd2 |
A |
T |
2: 113,841,789 (GRCm39) |
Y229* |
probably null |
Het |
| Gramd1b |
A |
T |
9: 40,215,834 (GRCm39) |
|
probably null |
Het |
| Hjurp |
G |
A |
1: 88,193,843 (GRCm39) |
S279F |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,244,608 (GRCm39) |
L152F |
probably benign |
Het |
| Izumo1r |
A |
G |
9: 14,813,105 (GRCm39) |
C56R |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,352,585 (GRCm39) |
E850G |
probably damaging |
Het |
| Larp4b |
C |
G |
13: 9,201,133 (GRCm39) |
T335S |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,118,268 (GRCm39) |
R42S |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,618,261 (GRCm39) |
L920R |
probably benign |
Het |
| Mapk8 |
G |
A |
14: 33,132,919 (GRCm39) |
R6C |
probably benign |
Het |
| Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
| Myoc |
A |
G |
1: 162,466,936 (GRCm39) |
Y35C |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,474 (GRCm39) |
M66I |
probably benign |
Het |
| Nkpd1 |
T |
C |
7: 19,257,904 (GRCm39) |
I411T |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 89,321,238 (GRCm39) |
N382S |
possibly damaging |
Het |
| Or2t47 |
A |
T |
11: 58,442,246 (GRCm39) |
V273E |
possibly damaging |
Het |
| Or4c114 |
A |
T |
2: 88,905,396 (GRCm39) |
L13Q |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,664,060 (GRCm39) |
E303G |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,413 (GRCm39) |
M1047K |
probably benign |
Het |
| Pofut1 |
T |
G |
2: 153,107,709 (GRCm39) |
F268C |
probably damaging |
Het |
| Psrc1 |
G |
T |
3: 108,292,609 (GRCm39) |
S134I |
probably damaging |
Het |
| Slc6a2 |
A |
T |
8: 93,708,618 (GRCm39) |
I245F |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,149,534 (GRCm39) |
S787P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,736,798 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
A |
12: 76,042,776 (GRCm39) |
H3916N |
probably damaging |
Het |
| Taar6 |
A |
G |
10: 23,861,079 (GRCm39) |
S156P |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,975,170 (GRCm39) |
F86L |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Ttll8 |
A |
G |
15: 88,798,647 (GRCm39) |
V696A |
probably benign |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,222 (GRCm39) |
C301S |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,207,573 (GRCm39) |
Y928C |
probably benign |
Het |
| Zfand1 |
G |
A |
3: 10,411,042 (GRCm39) |
A104V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTCTACACAAATCTACTCAAGGGCA -3'
(R):5'- CAGGAGACCATTCCCAAGAGGCTA -3'
Sequencing Primer
(F):5'- GAAGCCCTCTATCTACTTTAGAATTG -3'
(R):5'- ACCATTCCCAAGAGGCTATGTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation