Incidental Mutation 'PIT4508001:Hcrtr2'
| ID |
556228 |
| 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 # |
PIT4508001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
76133162-76230905 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 76153662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 243
(Y243*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063140]
[ENSMUST00000184757]
|
| AlphaFold |
P58308 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063140
AA Change: Y243*
|
| SMART Domains |
Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: Y243*
| 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 null
Transcript: ENSMUST00000184757
AA Change: Y243*
|
| SMART Domains |
Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: Y243*
| 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: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,903,057 (GRCm39) |
A6T |
possibly damaging |
Het |
| Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,767,284 (GRCm39) |
F478S |
probably damaging |
Het |
| Esco2 |
A |
T |
14: 66,068,914 (GRCm39) |
V132E |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,033 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
| H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
| Itga3 |
T |
C |
11: 94,946,719 (GRCm39) |
H730R |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,360,606 (GRCm39) |
L127Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
| Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,606,527 (GRCm39) |
D335E |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
| Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
| Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,722,892 (GRCm39) |
A331S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
| Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
| Zfp326 |
A |
T |
5: 106,062,556 (GRCm39) |
Q475L |
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGGATGTTTTCATATCCAGAG -3'
(R):5'- TGGTCCCATCACTTGAGAAAC -3'
Sequencing Primer
(F):5'- TGTTTTCATATCCAGAGTCTCATTG -3'
(R):5'- GTTTGACTCTCATCTCAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation