Incidental Mutation 'R6023:Hcrtr2'
ID |
479044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hcrtr2
|
Ensembl Gene |
ENSMUSG00000032360 |
Gene Name |
hypocretin (orexin) receptor 2 |
Synonyms |
mOX2bR, mOX2aR, mOXR2, OX2r |
MMRRC Submission |
044195-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R6023 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
76133162-76230905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76137886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 410
(I410F)
|
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: I410F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000058230 Gene: ENSMUSG00000032360 AA Change: I410F
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: I410F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000139377 Gene: ENSMUSG00000032360 AA Change: I410F
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
71 |
364 |
1.2e-59 |
PFAM |
Pfam:Orexin_rec2
|
383 |
443 |
2.2e-47 |
PFAM |
|
Meta Mutation Damage Score |
0.0742 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,757,843 (GRCm39) |
N1302S |
possibly damaging |
Het |
Aff3 |
A |
T |
1: 38,257,451 (GRCm39) |
S424T |
probably damaging |
Het |
Ap2b1 |
C |
T |
11: 83,226,224 (GRCm39) |
T207M |
probably damaging |
Het |
Appl2 |
T |
C |
10: 83,484,393 (GRCm39) |
Q18R |
probably null |
Het |
Atrn |
T |
C |
2: 130,862,900 (GRCm39) |
F1327L |
probably benign |
Het |
Birc6 |
A |
T |
17: 74,961,372 (GRCm39) |
I47F |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,301,321 (GRCm39) |
I451N |
probably damaging |
Het |
Clec3a |
A |
G |
8: 115,144,883 (GRCm39) |
T20A |
possibly damaging |
Het |
Cpz |
T |
A |
5: 35,669,922 (GRCm39) |
I252F |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,913,433 (GRCm39) |
D143G |
probably benign |
Het |
Dhrs1 |
A |
T |
14: 55,981,127 (GRCm39) |
Y94* |
probably null |
Het |
Dnajc25 |
A |
G |
4: 59,013,752 (GRCm39) |
K157E |
possibly damaging |
Het |
Dpp6 |
T |
C |
5: 27,928,545 (GRCm39) |
I789T |
probably damaging |
Het |
Duox1 |
T |
G |
2: 122,168,165 (GRCm39) |
F1097V |
probably benign |
Het |
Ercc8 |
A |
G |
13: 108,315,111 (GRCm39) |
T242A |
probably damaging |
Het |
Evc2 |
T |
A |
5: 37,505,960 (GRCm39) |
M93K |
probably benign |
Het |
Glra1 |
A |
T |
11: 55,424,679 (GRCm39) |
V94E |
probably damaging |
Het |
Got1l1 |
A |
T |
8: 27,689,932 (GRCm39) |
Y151* |
probably null |
Het |
Ighv1-72 |
T |
A |
12: 115,721,532 (GRCm39) |
|
probably benign |
Het |
Kel |
C |
A |
6: 41,674,409 (GRCm39) |
E340D |
probably benign |
Het |
Kif11 |
A |
G |
19: 37,379,158 (GRCm39) |
E283G |
probably damaging |
Het |
Klk4 |
T |
G |
7: 43,533,482 (GRCm39) |
F114V |
probably benign |
Het |
Krt7 |
T |
C |
15: 101,310,278 (GRCm39) |
|
probably benign |
Het |
Lrrc74a |
A |
G |
12: 86,805,380 (GRCm39) |
I401V |
probably damaging |
Het |
Luzp2 |
T |
C |
7: 54,707,815 (GRCm39) |
S68P |
possibly damaging |
Het |
Naip1 |
T |
C |
13: 100,562,694 (GRCm39) |
T824A |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,659,376 (GRCm39) |
Q747R |
possibly damaging |
Het |
Or13p4 |
T |
A |
4: 118,547,271 (GRCm39) |
Y126F |
probably damaging |
Het |
Or1j11 |
A |
G |
2: 36,311,523 (GRCm39) |
T38A |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,059 (GRCm39) |
D83G |
possibly damaging |
Het |
Or51f1 |
T |
C |
7: 102,506,169 (GRCm39) |
I107V |
possibly damaging |
Het |
Or52h2 |
T |
C |
7: 103,838,880 (GRCm39) |
H178R |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,067 (GRCm39) |
D120G |
probably damaging |
Het |
Or7g22 |
A |
C |
9: 19,049,021 (GRCm39) |
H244P |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,555,978 (GRCm39) |
I436T |
possibly damaging |
Het |
Pfdn2 |
T |
C |
1: 171,184,319 (GRCm39) |
Y65H |
probably damaging |
Het |
Polr2h |
T |
C |
16: 20,537,776 (GRCm39) |
Y58H |
probably benign |
Het |
Prrt4 |
G |
A |
6: 29,176,452 (GRCm39) |
P291L |
probably benign |
Het |
Psg29 |
G |
T |
7: 16,944,437 (GRCm39) |
V316L |
possibly damaging |
Het |
Rnf112 |
T |
A |
11: 61,340,555 (GRCm39) |
E525V |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,101,773 (GRCm39) |
K411R |
probably benign |
Het |
Sh3tc1 |
T |
A |
5: 35,864,295 (GRCm39) |
K631* |
probably null |
Het |
Syne1 |
T |
C |
10: 5,393,223 (GRCm39) |
M48V |
probably benign |
Het |
Thrb |
C |
T |
14: 18,011,209 (GRCm38) |
T226I |
probably damaging |
Het |
Trim67 |
A |
T |
8: 125,541,843 (GRCm39) |
D347V |
probably damaging |
Het |
Try4 |
T |
C |
6: 41,280,355 (GRCm39) |
S60P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,565,744 (GRCm39) |
L19876I |
probably damaging |
Het |
Vars1 |
C |
T |
17: 35,220,585 (GRCm39) |
R56C |
probably damaging |
Het |
Vmn1r9 |
A |
G |
6: 57,048,239 (GRCm39) |
I105V |
probably benign |
Het |
Vps8 |
C |
A |
16: 21,279,988 (GRCm39) |
T313K |
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 |
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 |
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'- CTGGATACTAAAACTGTTCACAGAG -3'
(R):5'- GTTAGCTTGGCTCAAGGGAACG -3'
Sequencing Primer
(F):5'- AGTCGGGTATCCTCATCA -3'
(R):5'- TCAAGGGAACGCCTCATTTG -3'
|
Posted On |
2017-06-26 |